| (MBTPS2) membrane-bound transcription factor peptidase, site 2 [Homo sapiens] |
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Gene
Transcript(s)
Exon(s)
Protein(s)
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Accession
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193
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Official symbol
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MBTPS2
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Official name
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membrane-bound transcription factor peptidase, site 2
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Gene type
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gene with protein product
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Organism
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Homo sapiens
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Location
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Chromosome X (NC_000023.10) : 21857706...21903540 (+)
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Map
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Xp22.12-p22.11
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Length
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45835 nt
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NM_015884.2
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MBTPS2, mRNA isoform 1
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Accession
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Name
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Organism
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Length
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O43462
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Membrane-bound transcription factor site-2 protease
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Homo sapiens
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519 aa
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| Synonyms |
FLJ32174; S2P
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| Alternative name(s) |
membrane-bound transcription factor protease, site 2
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Related Articles in PubMed
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Go to ensembl 
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>ref|Gene_ID:51360|MBTPS2|NC_000023.10:21857706...21903540 (+)
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| Primary source |
RefSeq : NM_015884.2 (GI:197245414)
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| Name |
Membrane-bound transcription factor peptidase, site 2 (MBTPS2)
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| Type of transcript |
mRNA
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| Organism |
Homo sapiens
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| Length |
4482 nt
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| Map |
Xp22.12-p22.11
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| Location |
Chromosome X (NC_000023.10) strand : +
| 21857706...21857926 | 21861287...21861435 | 21863288...21863501 | 21869626...21869729 |
| 21871493...21871620 | 21886584...21886702 | 21887615...21887795 | 21896159...21896253 |
| 21896614...21896809 | 21899014...21899089 | 21900550...21903540 |
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| Exon(s) |
Start |
End |
Length |
is coding |
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Exon 1
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1
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221
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221
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1
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Exon 2
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222
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370
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149
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1
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Exon 3
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371
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584
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214
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1
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Exon 4
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585
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688
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104
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1
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Exon 5
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689
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816
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128
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1
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Exon 6
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817
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935
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119
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1
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Exon 7
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936
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1116
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181
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1
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Exon 8
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1117
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1211
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95
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1
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Exon 9
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1212
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1407
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196
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1
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Exon 10
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1408
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1483
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76
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1
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Exon 11
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1484
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4474
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2991
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1
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| ID |
Class |
Location |
Mutation |
Length |
is synonymous |
Source |
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| Primary source |
NCBI : CCDS14201
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| Nucleotide |
MBTPS2, mRNA isoform 1[NM_015884.2] : 147...1706
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| Length |
1560
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| Location |
Chromosome X (NC_000023.10) strand : +
| 21857852...21857926 | 21861287...21861435 | 21863288...21863501 | 21869626...21869729 |
| 21871493...21871620 | 21886584...21886702 | 21887615...21887795 | 21896159...21896253 |
| 21896614...21896809 | 21899014...21899089 | 21900550...21900772 |
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| Start codon |
1
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| Translation |
NP_056968.1 |
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| 1 |
GAAACCGTGC |
CACCGCAAGG |
AAGGAGCCGG |
CGGTAGCTTG |
GTTCCTGAGC |
GGATGCTGGG |
GCTGTAAGGC |
GCGCGCGGTC |
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| 81 |
AGCTGTTGGC |
GGTGCAGGGA |
GGAGGACGCC |
GGGGCTCGCC |
TTCCCTCCTC |
TGCCGCCGCT |
GCCGCCATGA |
TTCCGGTGTC |
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| 161 |
GCTGGTGGTG |
GTGGTGGTGG |
GTGGCTGGAC |
TGTCGTCTAC |
CTGACCGACT |
TGGTGCTGAA |
GTCATCTGTC |
TATTTTAAAC |
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| 241 |
ATTCTTATGA |
AGACTGGCTG |
GAAAACAACG |
GACTGAGCAT |
CTCCCCTTTC |
CACATAAGAT |
GGCAAACTGC |
TGTTTTCAAT |
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| 321 |
CGTGCCTTTT |
ACAGTTGGGG |
ACGGCGGAAA |
GCAAGGATGC |
TTTACCAATG |
GTTCAATTTT |
GGAATGGTGT |
TTGGCGTAAT |
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| 401 |
TGCCATGTTT |
AGCTCATTTT |
TTCTCCTTGG |
AAAAACGCTG |
ATGCAGACTT |
TGGCACAAAT |
GATGGCTGAC |
TCTCCCTCTT |
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| 481 |
CTTATTCTTC |
CTCCTCTTCT |
TCCTCTTCCT |
CCTCTTCTTC |
CTCTTCCTCT |
TCTTCATCTT |
CTTCCTCTTC |
CTCGCTTCAC |
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| 561 |
AATGAACAGG |
TGTTACAAGT |
TGTGGTTCCT |
GGTATAAATT |
TACCCGTCAA |
TCAACTGACC |
TATTTCTTCA |
CGGCAGTTCT |
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| 641 |
CATTAGTGGT |
GTTGTACATG |
AAATTGGACA |
TGGGATAGCA |
GCTATTAGGG |
AACAAGTTCG |
ATTTAATGGC |
TTTGGGATTT |
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| 721 |
TTCTCTTCAT |
TATTTATCCT |
GGAGCATTTG |
TTGATCTGTT |
CACCACTCAT |
TTGCAACTTA |
TATCGCCAGT |
CCAGCAGCTA |
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| 801 |
AGGATATTTT |
GTGCAGGTAT |
CTGGCATAAT |
TTTGTCCTTG |
CACTCTTGGG |
TATTTTAGCT |
CTTGTTCTCC |
TCCCAGTAAT |
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| 881 |
TCTCTTGCCA |
TTTTACTACA |
CTGGAGTTGG |
GGTGCTCATC |
ACTGAAGTTG |
CTGAGGACTC |
TCCTGCCATT |
GGACCCAGAG |
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| 961 |
GCCTTTTTGT |
GGGAGACCTT |
GTCACCCATC |
TACAGGATTG |
TCCTGTTACT |
AATGTGCAAG |
ATTGGAATGA |
ATGTTTAGAT |
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| 1041 |
ACCATCGCCT |
ATGAGCCCCA |
AATTGGTTAC |
TGTATAAGTG |
CATCAACTTT |
ACAGCAGTTA |
AGTTTCCCAG |
TTAGAGCATA |
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| 1121 |
CAAACGACTA |
GATGGTTCAA |
CTGAATGCTG |
TAACAATCAC |
AGCCTCACAG |
ATGTGTGCTT |
TTCCTACAGA |
AATAATTTTA |
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| 1201 |
ATAAGCGTTT |
GCATACATGT |
CTTCCTGCCC |
GGAAAGCAGT |
TGAAGCAACT |
CAAGTTTGCA |
GAACCAATAA |
AGACTGTAAA |
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| 1281 |
AAAAGCTCAA |
GTTCAAGTTT |
CTGTATAATA |
CCTTCTTTGG |
AAACTCACAC |
TCGCTTAATA |
AAAGTAAAAC |
ACCCACCTCA |
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| 1361 |
GATTGATATG |
TTATACGTAG |
GACATCCTCT |
GCATCTTCAC |
TACACAGTGA |
GCATCACCAG |
TTTTATCCCA |
CGTTTTAACT |
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| 1441 |
TTCTAAGCAT |
AGATCTGCCA |
GTGGTTGTGG |
AGACATTTGT |
CAAGTACCTG |
ATTTCCCTCT |
CAGGAGCTCT |
GGCTATTGTT |
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| 1521 |
AATGCAGTAC |
CCTGCTTTGC |
TTTGGATGGA |
CAATGGATTC |
TAAACTCTTT |
CTTGGATGCC |
ACCCTTACCT |
CAGTGATTGG |
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| 1601 |
AGACAATGAT |
GTCAAAGATC |
TAATAGGGTT |
TTTCATCTTG |
CTGGGTGGCA |
GTGTACTTTT |
GGCTGCCAAT |
GTGACCCTGG |
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| 1681 |
GACTCTGGAT |
GGTTACAGCA |
CGGTAATGTT |
TGCACTCATC |
TGACAGAATC |
CCTGAGTTAC |
AGTATACAGC |
TATGTGGTAA |
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| 1761 |
TATTCATTGC |
CATTGAAATT |
CTTACTTGGT |
ATGAAATATA |
AAGTGTTTCC |
TTAAAATTAC |
ATCTTAGCCA |
ACAACCCTGA |
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| 1841 |
GCTCCTCCCA |
TATCCAGAGT |
ACCCAAACTC |
TGTGGTAGAA |
GATAAGCAGA |
AGAAATGAAA |
GGCATAGTCC |
CTGACTATAT |
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| 1921 |
TCTAATTTAG |
GACTGAATGT |
ACCCAGATGC |
TTGTGGAATA |
ATATCTAAGC |
AAGTGCAAAT |
TCATGTAATA |
CCGTTTTGTC |
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| 2001 |
TGATTACATA |
TTGTGTTGAA |
ATAGTATAAA |
GGAGAACAGA |
ACTGGGTGGA |
ATTAATTGGG |
AAAAACTTCT |
TACAAAAGCA |
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| 2081 |
TCATTAATCA |
AAATTTGAAG |
GAGACCAGAC |
TTTGGCCAAG |
TGGAAGGATG |
ACCATTGTCT |
TGGCCTGTAT |
CTCTTGTCCT |
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| 2161 |
TTGTCTTGTT |
TGAAAAGTAT |
TTTAAAACTT |
AATGGTGTAT |
TATTTTGTGC |
TCTGAAAGCT |
GAGGTCTGAT |
TACAATTAGT |
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| 2241 |
AAAATTCTAT |
AGAAGAATCT |
GCTGACGTGA |
AAGGGAAAAA |
TCTTTGTCAA |
ATGATACCAA |
ATAAATGAAC |
AAAACAGGAA |
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| 2321 |
GTAGGGCCTA |
TGATATCGTG |
AGACATGTTT |
TGCCCCACAA |
GAGTTGCATC |
TTTTATAAGG |
TGTCTCTGCC |
CCCTCATAAA |
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| 2401 |
GCAGCACTAG |
CTTTGACATC |
CACGGTGAGC |
TGCAGGAAGC |
ATCACACACC |
AGCAGCATGT |
GAGCAGAGGG |
AGGCAGTTGG |
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| 2481 |
GGTTGAACTT |
CGGAACTAGG |
CCGGGTCTCC |
TGACAGATCA |
CAAGACACCC |
CAGAGGATCT |
TCAGCAGTCC |
TACTTCCCAT |
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| 2561 |
TCTCTATAGA |
GCTTTGAAGC |
TTGGAACCCT |
TCCAGGGTAA |
ACATTTTCTC |
TTGTGCTGCT |
CAGGACATCT |
GGGGCCTAGC |
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| 2641 |
TCCTGGGTTC |
CTGTCTCCAA |
GAAGCAATGA |
CCTTAAACTC |
TGAGCCATAC |
TCTGTCCTCA |
CCAGCGGCTC |
CCATGTTTTT |
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| 2721 |
CTGTGTCAGG |
TTATTAAGTA |
CCTAGTCCTT |
GTTTTCTGTC |
TCTCTCCTAA |
GCTACCTCTC |
TGGGTCCACA |
GAAGACTTGG |
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| 2801 |
TAGTATAGTG |
AGAATGGCTA |
TACGTGAGTA |
CAAACGTGGA |
TTTTCCAGGG |
CTTGGGAACT |
GATTCTTGAG |
CCCAGAAGAG |
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| 2881 |
CCACGCCTGC |
TTTGAGGTCT |
TTTGGAGTGG |
AGATGCAGCC |
CTGGGAAATT |
TGGGGAGTCA |
GCAGGCCAGT |
GTGAAGCTAT |
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| 2961 |
TGGTCCTAGG |
AGTATATGAG |
CTTGCTGTTT |
CTTTGATGGA |
AAATACATGC |
TTCTCTTGTA |
TACTCAGAAG |
TGACTAAGGG |
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| 3041 |
CAATAACTCA |
TTAATAGCCA |
TCTATCCAAC |
TTCTTTACTG |
AGTGATGTAT |
TCCATGGGGT |
TACCTTTTTC |
AGATTATTGA |
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| 3121 |
GTTGCTCTGT |
AAGCACTAAA |
ACTTTTTAAT |
CATTTTTAAG |
AAACTTTTTA |
GATTGTATTA |
CAAATTTGCC |
TTAACAGTAA |
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| 3201 |
TTAGATGTTG |
AATATAATTT |
TAACATTTTA |
TTAATGACTT |
GGGTCATCAG |
TTAATACCAG |
TACTAAAACC |
ATACGAATTA |
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| 3281 |
TTGGTTTATT |
CCAGAAAATA |
CAGTATTTGT |
TCTATTTTTA |
GGTAGACAAT |
CATTTGGGAT |
CAGAGTACAT |
TAGCATAGTA |
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| 3361 |
ATGCTCAGTC |
AGACCTGTTC |
AAGTAGTAGA |
GCTTGGAGAA |
TGCCATGAAA |
TACTTATATA |
ATTAATTTGA |
TTGCATGAAC |
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| 3441 |
TAAGCAATTT |
TACTAATGAA |
AAGGTTGTAT |
ATGTGCAAGT |
CACTTTTTTA |
AAAACCAAGA |
AAAAACTTTA |
ATAGAGGAAA |
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| 3521 |
TCTTATTCAT |
TAATTTATTT |
TTCTGAGTAA |
AAAAACGAAA |
CCCAAATCTC |
ATTTTATTTC |
AACTGTTAAA |
CATTTTGATC |
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| 3601 |
TGTTGACCCA |
TAGGATCAGG |
ATTTGGGAAC |
CACTTTACTA |
GGAAAGAGCA |
GATCAGTACC |
ATTTGTATAA |
AACCGGCCTC |
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| 3681 |
ATTATGTAAG |
AAAGAAAATG |
TTACGTGTTT |
TCTTCTTTAG |
CTTGGTTGTG |
GGCACTTCTA |
CAGCAAGGAC |
CATATCATAT |
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| 3761 |
TCATCTTTGC |
ATCCCTGGCA |
CAGTGCATGA |
GACATAAGTA |
CTTAATAAAT |
GCAGTTGAAT |
GGATAATGAT |
TAGTGTTATT |
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| 3841 |
TATGGATTAG |
AAAAAGCATG |
TTTCTATTTA |
AGTAAGCTGT |
AAAAAGTATT |
ATTGAATATT |
TACTGTAAAT |
ATATGTTCAC |
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| 3921 |
ATAAAAAAAT |
AACTTGGAGG |
GTCTTTGTGT |
CCCTGGCATA |
TTATCATCTT |
CATGGAAAGA |
ATCCACTGTG |
GTTTCTGTAG |
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| 4001 |
AGTGATTGGA |
AAAATGGATT |
ATTTTGAGGA |
TTGAAGAAAG |
TGTTCTTTCT |
GCGTTGTCAC |
TTTGTTCAAC |
AGTAAAACTT |
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| 4081 |
TATTCTCAGT |
GTTCCTACTC |
TGCATTGTTT |
ACATTTTTGA |
CAGTTTTTTT |
TAATCACCTA |
CAATCTGTAA |
AGAATGTATA |
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| 4161 |
TATTCTTTTC |
AGCATCTCAG |
TTTGAAAAGA |
CATGCAGTTA |
AACTTGACCT |
TTTGATAATC |
GCTCTTACAG |
GTCATTGTCT |
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| 4241 |
GTTCTAACAG |
CAAATTGTAA |
ACATGTGCTT |
CATAGATATT |
GTGGCTCTCA |
GTCATCACTT |
TGTCCTATGG |
TATTTATTGA |
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| 4321 |
ATGTTCACAT |
ACTAATGGTG |
CACAGGTGTT |
TTTTTCTATA |
AATCTTCTGA |
CTGTCCTGTA |
ATTCATTCTT |
AAGCTTTAAC |
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| 4401 |
TTGAAGGTAT |
CGTAATTGCC |
GGCATTTGAT |
GTTTAGCAAT |
AAAAGAATAA |
ATGTGTACCA |
GCATTTTATG |
TTTAAAAAAA |
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| 4481 |
AA |
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>gi|197245414|ref|NM_015884.2|Membrane-bound transcription factor peptidase, site 2 (MBTPS2)
GAAACCGTGCCACCGCAAGGAAGGAGCCGGCGGTAGCTTGGTTCCTGAGCGGATGCTGGGGCTGTAAGGCGCGCGCGGTC
AGCTGTTGGCGGTGCAGGGAGGAGGACGCCGGGGCTCGCCTTCCCTCCTCTGCCGCCGCTGCCGCCATGATTCCGGTGTC
GCTGGTGGTGGTGGTGGTGGGTGGCTGGACTGTCGTCTACCTGACCGACTTGGTGCTGAAGTCATCTGTCTATTTTAAAC
ATTCTTATGAAGACTGGCTGGAAAACAACGGACTGAGCATCTCCCCTTTCCACATAAGATGGCAAACTGCTGTTTTCAAT
CGTGCCTTTTACAGTTGGGGACGGCGGAAAGCAAGGATGCTTTACCAATGGTTCAATTTTGGAATGGTGTTTGGCGTAAT
TGCCATGTTTAGCTCATTTTTTCTCCTTGGAAAAACGCTGATGCAGACTTTGGCACAAATGATGGCTGACTCTCCCTCTT
CTTATTCTTCCTCCTCTTCTTCCTCTTCCTCCTCTTCTTCCTCTTCCTCTTCTTCATCTTCTTCCTCTTCCTCGCTTCAC
AATGAACAGGTGTTACAAGTTGTGGTTCCTGGTATAAATTTACCCGTCAATCAACTGACCTATTTCTTCACGGCAGTTCT
CATTAGTGGTGTTGTACATGAAATTGGACATGGGATAGCAGCTATTAGGGAACAAGTTCGATTTAATGGCTTTGGGATTT
TTCTCTTCATTATTTATCCTGGAGCATTTGTTGATCTGTTCACCACTCATTTGCAACTTATATCGCCAGTCCAGCAGCTA
AGGATATTTTGTGCAGGTATCTGGCATAATTTTGTCCTTGCACTCTTGGGTATTTTAGCTCTTGTTCTCCTCCCAGTAAT
TCTCTTGCCATTTTACTACACTGGAGTTGGGGTGCTCATCACTGAAGTTGCTGAGGACTCTCCTGCCATTGGACCCAGAG
GCCTTTTTGTGGGAGACCTTGTCACCCATCTACAGGATTGTCCTGTTACTAATGTGCAAGATTGGAATGAATGTTTAGAT
ACCATCGCCTATGAGCCCCAAATTGGTTACTGTATAAGTGCATCAACTTTACAGCAGTTAAGTTTCCCAGTTAGAGCATA
CAAACGACTAGATGGTTCAACTGAATGCTGTAACAATCACAGCCTCACAGATGTGTGCTTTTCCTACAGAAATAATTTTA
ATAAGCGTTTGCATACATGTCTTCCTGCCCGGAAAGCAGTTGAAGCAACTCAAGTTTGCAGAACCAATAAAGACTGTAAA
AAAAGCTCAAGTTCAAGTTTCTGTATAATACCTTCTTTGGAAACTCACACTCGCTTAATAAAAGTAAAACACCCACCTCA
GATTGATATGTTATACGTAGGACATCCTCTGCATCTTCACTACACAGTGAGCATCACCAGTTTTATCCCACGTTTTAACT
TTCTAAGCATAGATCTGCCAGTGGTTGTGGAGACATTTGTCAAGTACCTGATTTCCCTCTCAGGAGCTCTGGCTATTGTT
AATGCAGTACCCTGCTTTGCTTTGGATGGACAATGGATTCTAAACTCTTTCTTGGATGCCACCCTTACCTCAGTGATTGG
AGACAATGATGTCAAAGATCTAATAGGGTTTTTCATCTTGCTGGGTGGCAGTGTACTTTTGGCTGCCAATGTGACCCTGG
GACTCTGGATGGTTACAGCACGGTAATGTTTGCACTCATCTGACAGAATCCCTGAGTTACAGTATACAGCTATGTGGTAA
TATTCATTGCCATTGAAATTCTTACTTGGTATGAAATATAAAGTGTTTCCTTAAAATTACATCTTAGCCAACAACCCTGA
GCTCCTCCCATATCCAGAGTACCCAAACTCTGTGGTAGAAGATAAGCAGAAGAAATGAAAGGCATAGTCCCTGACTATAT
TCTAATTTAGGACTGAATGTACCCAGATGCTTGTGGAATAATATCTAAGCAAGTGCAAATTCATGTAATACCGTTTTGTC
TGATTACATATTGTGTTGAAATAGTATAAAGGAGAACAGAACTGGGTGGAATTAATTGGGAAAAACTTCTTACAAAAGCA
TCATTAATCAAAATTTGAAGGAGACCAGACTTTGGCCAAGTGGAAGGATGACCATTGTCTTGGCCTGTATCTCTTGTCCT
TTGTCTTGTTTGAAAAGTATTTTAAAACTTAATGGTGTATTATTTTGTGCTCTGAAAGCTGAGGTCTGATTACAATTAGT
AAAATTCTATAGAAGAATCTGCTGACGTGAAAGGGAAAAATCTTTGTCAAATGATACCAAATAAATGAACAAAACAGGAA
GTAGGGCCTATGATATCGTGAGACATGTTTTGCCCCACAAGAGTTGCATCTTTTATAAGGTGTCTCTGCCCCCTCATAAA
GCAGCACTAGCTTTGACATCCACGGTGAGCTGCAGGAAGCATCACACACCAGCAGCATGTGAGCAGAGGGAGGCAGTTGG
GGTTGAACTTCGGAACTAGGCCGGGTCTCCTGACAGATCACAAGACACCCCAGAGGATCTTCAGCAGTCCTACTTCCCAT
TCTCTATAGAGCTTTGAAGCTTGGAACCCTTCCAGGGTAAACATTTTCTCTTGTGCTGCTCAGGACATCTGGGGCCTAGC
TCCTGGGTTCCTGTCTCCAAGAAGCAATGACCTTAAACTCTGAGCCATACTCTGTCCTCACCAGCGGCTCCCATGTTTTT
CTGTGTCAGGTTATTAAGTACCTAGTCCTTGTTTTCTGTCTCTCTCCTAAGCTACCTCTCTGGGTCCACAGAAGACTTGG
TAGTATAGTGAGAATGGCTATACGTGAGTACAAACGTGGATTTTCCAGGGCTTGGGAACTGATTCTTGAGCCCAGAAGAG
CCACGCCTGCTTTGAGGTCTTTTGGAGTGGAGATGCAGCCCTGGGAAATTTGGGGAGTCAGCAGGCCAGTGTGAAGCTAT
TGGTCCTAGGAGTATATGAGCTTGCTGTTTCTTTGATGGAAAATACATGCTTCTCTTGTATACTCAGAAGTGACTAAGGG
CAATAACTCATTAATAGCCATCTATCCAACTTCTTTACTGAGTGATGTATTCCATGGGGTTACCTTTTTCAGATTATTGA
GTTGCTCTGTAAGCACTAAAACTTTTTAATCATTTTTAAGAAACTTTTTAGATTGTATTACAAATTTGCCTTAACAGTAA
TTAGATGTTGAATATAATTTTAACATTTTATTAATGACTTGGGTCATCAGTTAATACCAGTACTAAAACCATACGAATTA
TTGGTTTATTCCAGAAAATACAGTATTTGTTCTATTTTTAGGTAGACAATCATTTGGGATCAGAGTACATTAGCATAGTA
ATGCTCAGTCAGACCTGTTCAAGTAGTAGAGCTTGGAGAATGCCATGAAATACTTATATAATTAATTTGATTGCATGAAC
TAAGCAATTTTACTAATGAAAAGGTTGTATATGTGCAAGTCACTTTTTTAAAAACCAAGAAAAAACTTTAATAGAGGAAA
TCTTATTCATTAATTTATTTTTCTGAGTAAAAAAACGAAACCCAAATCTCATTTTATTTCAACTGTTAAACATTTTGATC
TGTTGACCCATAGGATCAGGATTTGGGAACCACTTTACTAGGAAAGAGCAGATCAGTACCATTTGTATAAAACCGGCCTC
ATTATGTAAGAAAGAAAATGTTACGTGTTTTCTTCTTTAGCTTGGTTGTGGGCACTTCTACAGCAAGGACCATATCATAT
TCATCTTTGCATCCCTGGCACAGTGCATGAGACATAAGTACTTAATAAATGCAGTTGAATGGATAATGATTAGTGTTATT
TATGGATTAGAAAAAGCATGTTTCTATTTAAGTAAGCTGTAAAAAGTATTATTGAATATTTACTGTAAATATATGTTCAC
ATAAAAAAATAACTTGGAGGGTCTTTGTGTCCCTGGCATATTATCATCTTCATGGAAAGAATCCACTGTGGTTTCTGTAG
AGTGATTGGAAAAATGGATTATTTTGAGGATTGAAGAAAGTGTTCTTTCTGCGTTGTCACTTTGTTCAACAGTAAAACTT
TATTCTCAGTGTTCCTACTCTGCATTGTTTACATTTTTGACAGTTTTTTTTAATCACCTACAATCTGTAAAGAATGTATA
TATTCTTTTCAGCATCTCAGTTTGAAAAGACATGCAGTTAAACTTGACCTTTTGATAATCGCTCTTACAGGTCATTGTCT
GTTCTAACAGCAAATTGTAAACATGTGCTTCATAGATATTGTGGCTCTCAGTCATCACTTTGTCCTATGGTATTTATTGA
ATGTTCACATACTAATGGTGCACAGGTGTTTTTTTCTATAAATCTTCTGACTGTCCTGTAATTCATTCTTAAGCTTTAAC
TTGAAGGTATCGTAATTGCCGGCATTTGATGTTTAGCAATAAAAGAATAAATGTGTACCAGCATTTTATGTTTAAAAAAA
AA
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| Exon number |
1
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| Length |
221 nt
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| Location |
Chromosome X (NC_000023.10) : 21857706...21857926 (+)
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| Is part of |
MBTPS2, mRNA isoform 1
(NM_015884.2)
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| Sequence |
Show
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GAAACCGTGCCACCGCAAGGAAGGAGCCGGCGGTAGCTTGGTTCCTGAGCGGATGCTGGGGCTGTAAGGCGCGCGCGGTC
AGCTGTTGGCGGTGCAGGGAGGAGGACGCCGGGGCTCGCCTTCCCTCCTCTGCCGCCGCTGCCGCCATGATTCCGGTGTC
GCTGGTGGTGGTGGTGGTGGGTGGCTGGACTGTCGTCTACCTGACCGACTTGGTGCTGAAG
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| Exon number |
2
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| Length |
149 nt
|
| Location |
Chromosome X (NC_000023.10) : 21861287...21861435 (+)
|
| Is part of |
MBTPS2, mRNA isoform 1
(NM_015884.2)
|
| Sequence |
Show
|
|
TCATCTGTCTATTTTAAACATTCTTATGAAGACTGGCTGGAAAACAACGGACTGAGCATCTCCCCTTTCCACATAAGATG
GCAAACTGCTGTTTTCAATCGTGCCTTTTACAGTTGGGGACGGCGGAAAGCAAGGATGCTTTACCAATG
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| Exon number |
3
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| Length |
214 nt
|
| Location |
Chromosome X (NC_000023.10) : 21863288...21863501 (+)
|
| Is part of |
MBTPS2, mRNA isoform 1
(NM_015884.2)
|
| Sequence |
Show
|
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GTTCAATTTTGGAATGGTGTTTGGCGTAATTGCCATGTTTAGCTCATTTTTTCTCCTTGGAAAAACGCTGATGCAGACTT
TGGCACAAATGATGGCTGACTCTCCCTCTTCTTATTCTTCCTCCTCTTCTTCCTCTTCCTCCTCTTCTTCCTCTTCCTCT
TCTTCATCTTCTTCCTCTTCCTCGCTTCACAATGAACAGGTGTTACAAGTTGTG
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| Exon number |
4
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| Length |
104 nt
|
| Location |
Chromosome X (NC_000023.10) : 21869626...21869729 (+)
|
| Is part of |
MBTPS2, mRNA isoform 1
(NM_015884.2)
|
| Sequence |
Show
|
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GTTCCTGGTATAAATTTACCCGTCAATCAACTGACCTATTTCTTCACGGCAGTTCTCATTAGTGGTGTTGTACATGAAAT
TGGACATGGGATAGCAGCTATTAG
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| Exon number |
5
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| Length |
128 nt
|
| Location |
Chromosome X (NC_000023.10) : 21871493...21871620 (+)
|
| Is part of |
MBTPS2, mRNA isoform 1
(NM_015884.2)
|
| Sequence |
Show
|
|
GGAACAAGTTCGATTTAATGGCTTTGGGATTTTTCTCTTCATTATTTATCCTGGAGCATTTGTTGATCTGTTCACCACTC
ATTTGCAACTTATATCGCCAGTCCAGCAGCTAAGGATATTTTGTGCAG
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| Exon number |
6
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| Length |
119 nt
|
| Location |
Chromosome X (NC_000023.10) : 21886584...21886702 (+)
|
| Is part of |
MBTPS2, mRNA isoform 1
(NM_015884.2)
|
| Sequence |
Show
|
|
GTATCTGGCATAATTTTGTCCTTGCACTCTTGGGTATTTTAGCTCTTGTTCTCCTCCCAGTAATTCTCTTGCCATTTTAC
TACACTGGAGTTGGGGTGCTCATCACTGAAGTTGCTGAG
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| Exon number |
7
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| Length |
181 nt
|
| Location |
Chromosome X (NC_000023.10) : 21887615...21887795 (+)
|
| Is part of |
MBTPS2, mRNA isoform 1
(NM_015884.2)
|
| Sequence |
Show
|
|
GACTCTCCTGCCATTGGACCCAGAGGCCTTTTTGTGGGAGACCTTGTCACCCATCTACAGGATTGTCCTGTTACTAATGT
GCAAGATTGGAATGAATGTTTAGATACCATCGCCTATGAGCCCCAAATTGGTTACTGTATAAGTGCATCAACTTTACAGC
AGTTAAGTTTCCCAGTTAGAG
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| Exon number |
8
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| Length |
95 nt
|
| Location |
Chromosome X (NC_000023.10) : 21896159...21896253 (+)
|
| Is part of |
MBTPS2, mRNA isoform 1
(NM_015884.2)
|
| Sequence |
Show
|
|
CATACAAACGACTAGATGGTTCAACTGAATGCTGTAACAATCACAGCCTCACAGATGTGTGCTTTTCCTACAGAAATAAT
TTTAATAAGCGTTTG
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| Exon number |
9
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| Length |
196 nt
|
| Location |
Chromosome X (NC_000023.10) : 21896614...21896809 (+)
|
| Is part of |
MBTPS2, mRNA isoform 1
(NM_015884.2)
|
| Sequence |
Show
|
|
CATACATGTCTTCCTGCCCGGAAAGCAGTTGAAGCAACTCAAGTTTGCAGAACCAATAAAGACTGTAAAAAAAGCTCAAG
TTCAAGTTTCTGTATAATACCTTCTTTGGAAACTCACACTCGCTTAATAAAAGTAAAACACCCACCTCAGATTGATATGT
TATACGTAGGACATCCTCTGCATCTTCACTACACAG
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| Exon number |
11
|
| Length |
2991 nt
|
| Location |
Chromosome X (NC_000023.10) : 21900550...21903540 (+)
|
| Is part of |
MBTPS2, mRNA isoform 1
(NM_015884.2)
|
| Sequence |
Show
|
|
GTACCTGATTTCCCTCTCAGGAGCTCTGGCTATTGTTAATGCAGTACCCTGCTTTGCTTTGGATGGACAATGGATTCTAA
ACTCTTTCTTGGATGCCACCCTTACCTCAGTGATTGGAGACAATGATGTCAAAGATCTAATAGGGTTTTTCATCTTGCTG
GGTGGCAGTGTACTTTTGGCTGCCAATGTGACCCTGGGACTCTGGATGGTTACAGCACGGTAATGTTTGCACTCATCTGA
CAGAATCCCTGAGTTACAGTATACAGCTATGTGGTAATATTCATTGCCATTGAAATTCTTACTTGGTATGAAATATAAAG
TGTTTCCTTAAAATTACATCTTAGCCAACAACCCTGAGCTCCTCCCATATCCAGAGTACCCAAACTCTGTGGTAGAAGAT
AAGCAGAAGAAATGAAAGGCATAGTCCCTGACTATATTCTAATTTAGGACTGAATGTACCCAGATGCTTGTGGAATAATA
TCTAAGCAAGTGCAAATTCATGTAATACCGTTTTGTCTGATTACATATTGTGTTGAAATAGTATAAAGGAGAACAGAACT
GGGTGGAATTAATTGGGAAAAACTTCTTACAAAAGCATCATTAATCAAAATTTGAAGGAGACCAGACTTTGGCCAAGTGG
AAGGATGACCATTGTCTTGGCCTGTATCTCTTGTCCTTTGTCTTGTTTGAAAAGTATTTTAAAACTTAATGGTGTATTAT
TTTGTGCTCTGAAAGCTGAGGTCTGATTACAATTAGTAAAATTCTATAGAAGAATCTGCTGACGTGAAAGGGAAAAATCT
TTGTCAAATGATACCAAATAAATGAACAAAACAGGAAGTAGGGCCTATGATATCGTGAGACATGTTTTGCCCCACAAGAG
TTGCATCTTTTATAAGGTGTCTCTGCCCCCTCATAAAGCAGCACTAGCTTTGACATCCACGGTGAGCTGCAGGAAGCATC
ACACACCAGCAGCATGTGAGCAGAGGGAGGCAGTTGGGGTTGAACTTCGGAACTAGGCCGGGTCTCCTGACAGATCACAA
GACACCCCAGAGGATCTTCAGCAGTCCTACTTCCCATTCTCTATAGAGCTTTGAAGCTTGGAACCCTTCCAGGGTAAACA
TTTTCTCTTGTGCTGCTCAGGACATCTGGGGCCTAGCTCCTGGGTTCCTGTCTCCAAGAAGCAATGACCTTAAACTCTGA
GCCATACTCTGTCCTCACCAGCGGCTCCCATGTTTTTCTGTGTCAGGTTATTAAGTACCTAGTCCTTGTTTTCTGTCTCT
CTCCTAAGCTACCTCTCTGGGTCCACAGAAGACTTGGTAGTATAGTGAGAATGGCTATACGTGAGTACAAACGTGGATTT
TCCAGGGCTTGGGAACTGATTCTTGAGCCCAGAAGAGCCACGCCTGCTTTGAGGTCTTTTGGAGTGGAGATGCAGCCCTG
GGAAATTTGGGGAGTCAGCAGGCCAGTGTGAAGCTATTGGTCCTAGGAGTATATGAGCTTGCTGTTTCTTTGATGGAAAA
TACATGCTTCTCTTGTATACTCAGAAGTGACTAAGGGCAATAACTCATTAATAGCCATCTATCCAACTTCTTTACTGAGT
GATGTATTCCATGGGGTTACCTTTTTCAGATTATTGAGTTGCTCTGTAAGCACTAAAACTTTTTAATCATTTTTAAGAAA
CTTTTTAGATTGTATTACAAATTTGCCTTAACAGTAATTAGATGTTGAATATAATTTTAACATTTTATTAATGACTTGGG
TCATCAGTTAATACCAGTACTAAAACCATACGAATTATTGGTTTATTCCAGAAAATACAGTATTTGTTCTATTTTTAGGT
AGACAATCATTTGGGATCAGAGTACATTAGCATAGTAATGCTCAGTCAGACCTGTTCAAGTAGTAGAGCTTGGAGAATGC
CATGAAATACTTATATAATTAATTTGATTGCATGAACTAAGCAATTTTACTAATGAAAAGGTTGTATATGTGCAAGTCAC
TTTTTTAAAAACCAAGAAAAAACTTTAATAGAGGAAATCTTATTCATTAATTTATTTTTCTGAGTAAAAAAACGAAACCC
AAATCTCATTTTATTTCAACTGTTAAACATTTTGATCTGTTGACCCATAGGATCAGGATTTGGGAACCACTTTACTAGGA
AAGAGCAGATCAGTACCATTTGTATAAAACCGGCCTCATTATGTAAGAAAGAAAATGTTACGTGTTTTCTTCTTTAGCTT
GGTTGTGGGCACTTCTACAGCAAGGACCATATCATATTCATCTTTGCATCCCTGGCACAGTGCATGAGACATAAGTACTT
AATAAATGCAGTTGAATGGATAATGATTAGTGTTATTTATGGATTAGAAAAAGCATGTTTCTATTTAAGTAAGCTGTAAA
AAGTATTATTGAATATTTACTGTAAATATATGTTCACATAAAAAAATAACTTGGAGGGTCTTTGTGTCCCTGGCATATTA
TCATCTTCATGGAAAGAATCCACTGTGGTTTCTGTAGAGTGATTGGAAAAATGGATTATTTTGAGGATTGAAGAAAGTGT
TCTTTCTGCGTTGTCACTTTGTTCAACAGTAAAACTTTATTCTCAGTGTTCCTACTCTGCATTGTTTACATTTTTGACAG
TTTTTTTTAATCACCTACAATCTGTAAAGAATGTATATATTCTTTTCAGCATCTCAGTTTGAAAAGACATGCAGTTAAAC
TTGACCTTTTGATAATCGCTCTTACAGGTCATTGTCTGTTCTAACAGCAAATTGTAAACATGTGCTTCATAGATATTGTG
GCTCTCAGTCATCACTTTGTCCTATGGTATTTATTGAATGTTCACATACTAATGGTGCACAGGTGTTTTTTTCTATAAAT
CTTCTGACTGTCCTGTAATTCATTCTTAAGCTTTAACTTGAAGGTATCGTAATTGCCGGCATTTGATGTTTAGCAATAAA
AGAATAAATGTGTACCAGCATTTTATGTTTA
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| Primary source |
Uniprot : O43462
|
| Name |
Membrane-bound transcription factor site-2 protease
|
| Alternative name(s) |
Endopeptidase S2P
Sterol regulatory element-binding proteins intramembrane protease
|
| Synonym(s) |
SREBPs intramembrane protease
|
| Organism |
Homo sapiens
|
| Length |
519 aa
|
| Protein existence |
---
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General annotation (Comments)
|
top
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Catalytic activity
|
Cleaves several transcription factors that are type-2 transmembrane proteins within membrane-spanning domains. Known substrates include sterol regulatory element-binding protein (SREBP) -1, SREBP-2 and forms of the transcriptional activator ATF6. SREBP-2 is cleaved at the site 477-DRSRILL-|- CVLTFLCLSFNPLTSLLQWGGA-505. The residues Asn-Pro, 11 residues distal to the site of cleavage in the membrane-spanning domain, are important for cleavage by S2P endopeptidase. Replacement of either of these residues does not prevent cleavage, but there is no cleavage if both of these residues are replaced.
|
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Cofactor
|
Binds 1 zinc ion per subunit.
|
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Disease
|
Defects in MBTPS2 are the cause of ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]. A syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy.
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Function
|
Intramembrane proteolysis of sterol-regulatory element- binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop.
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|
Similarity
|
Belongs to the peptidase M50A family.
|
|
Subcellular location
|
Membrane; Multi-pass membrane protein (Probable). Cytoplasm.
|
|
Tissue specificity
|
Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas.
|
|
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Biological process
|
proteolysis [GO:0006508]
cholesterol metabolic process [GO:0008203]
|
|
Cellular component
|
cytoplasm [GO:0005737]
integral to membrane [GO:0016021]
|
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Molecular function
|
metalloendopeptidase activity [GO:0004222]
metal ion binding [GO:0046872]
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With
|
Uniprot accession
|
IntAct
|
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Alternative product(s)
|
top
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Feature key |
Position
|
Length
|
Description
|
Feature identifier
|
Region
|
|
|
|
|
|
Compositional bias
|
109 - 136
|
28
|
Poly-Ser
|
O43462-COMPBIAS-109
|
|
Compositional bias
|
285 - 386
|
102
|
Cys-rich
|
O43462-COMPBIAS-285
|
|
Compositional bias
|
380 - 384
|
5
|
Poly-Ser
|
O43462-COMPBIAS-380
|
|
Topological domain
|
1 - 3
|
3
|
Cytoplasmic
|
O43462-TOPO_DOM-1
|
|
Topological domain
|
25 - 74
|
50
|
Lumenal (Probable)
|
O43462-TOPO_DOM-25
|
|
Topological domain
|
108 - 144
|
37
|
Lumenal (Probable)
|
O43462-TOPO_DOM-108
|
|
Topological domain
|
252 - 446
|
195
|
Lumenal (Probable)
|
O43462-TOPO_DOM-252
|
|
Topological domain
|
477 - 492
|
16
|
Lumenal (Potential)
|
O43462-TOPO_DOM-477
|
|
Topological domain
|
514 - 519
|
6
|
Cytoplasmic (Potential)
|
O43462-TOPO_DOM-514
|
|
Transmembrane
|
4 - 24
|
21
|
Helical; (Potential)
|
O43462-TRANSMEM-4
|
|
Transmembrane
|
75 - 95
|
21
|
Helical; (Potential)
|
O43462-TRANSMEM-75
|
|
Transmembrane
|
96 - 107
|
12
|
Helical; (Potential)
|
O43462-TRANSMEM-96
|
|
Transmembrane
|
145 - 169
|
25
|
Helical; (Potential)
|
O43462-TRANSMEM-145
|
|
Transmembrane
|
174 - 186
|
13
|
Helical; (Potential)
|
O43462-TRANSMEM-174
|
|
Transmembrane
|
187 - 209
|
23
|
Helical; (Potential)
|
O43462-TRANSMEM-187
|
|
Transmembrane
|
229 - 251
|
23
|
Helical; (Potential)
|
O43462-TRANSMEM-229
|
|
Transmembrane
|
447 - 464
|
18
|
Helical; (Potential)
|
O43462-TRANSMEM-447
|
|
Transmembrane
|
465 - 476
|
12
|
Helical; (Potential)
|
O43462-TRANSMEM-465
|
|
Transmembrane
|
493 - 513
|
21
|
Helical; (Potential)
|
O43462-TRANSMEM-493
|
Sites
|
|
|
|
|
|
Active site
|
172 - 172
|
1
|
|
O43462-ACT_SITE-172
|
|
Metal binding
|
171 - 171
|
1
|
Zinc; catalytic
|
O43462-METAL-171
|
|
Metal binding
|
175 - 175
|
1
|
Zinc; catalytic
|
O43462-METAL-175
|
Natural variations
|
|
|
|
|
|
Natural variant site
|
87 - 87
|
1
|
M -> I (in IFAPS; does not affect subcellular localization; impairs activity)
|
VAR_063054
|
|
Natural variant site
|
226 - 226
|
1
|
W -> L (in IFAPS; does not affect subcellular localization; impairs activity)
|
VAR_063055
|
|
Natural variant site
|
227 - 227
|
1
|
H -> L (in IFAPS; does not affect subcellular localization; impairs activity)
|
VAR_063056
|
|
Natural variant site
|
429 - 429
|
1
|
R -> H (in IFAPS; does not affect subcellular localization; impairs activity)
|
VAR_063057
|
|
Natural variant site
|
475 - 475
|
1
|
F -> S (in IFAPS; does not affect subcellular localization; impairs activity)
|
VAR_063058
|
Amino acid modifications
|
|
|
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|
|
Glycosylation
|
337 - 337
|
1
|
N-linked (GlcNAc...)
|
O43462-CARBOHYD-337
|
Experimental info
|
|
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|
Mutagenesis
|
171 - 171
|
1
|
H->F: Loss of activity
|
O43462-MUTAGEN-171
|
|
Mutagenesis
|
172 - 172
|
1
|
E->D: Partial loss of activity
|
O43462-MUTAGEN-172
|
|
Mutagenesis
|
175 - 175
|
1
|
H->F: Loss of activity
|
O43462-MUTAGEN-175
|
|
Mutagenesis
|
467 - 467
|
1
|
D->N: Loss of activity
|
O43462-MUTAGEN-467
|
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| 1 |
MIPVSLVVVV |
VGGWTVVYLT |
DLVLKSSVYF |
KHSYEDWLEN |
NGLSISPFHI |
RWQTAVFNRA |
FYSWGRRKAR |
MLYQWFNFGM |
|
| 81 |
VFGVIAMFSS |
FFLLGKTLMQ |
TLAQMMADSP |
SSYSSSSSSS |
SSSSSSSSSS |
SSSSSSLHNE |
QVLQVVVPGI |
NLPVNQLTYF |
|
| 161 |
FTAVLISGVV |
HEIGHGIAAI |
REQVRFNGFG |
IFLFIIYPGA |
FVDLFTTHLQ |
LISPVQQLRI |
FCAGIWHNFV |
LALLGILALV |
|
| 241 |
LLPVILLPFY |
YTGVGVLITE |
VAEDSPAIGP |
RGLFVGDLVT |
HLQDCPVTNV |
QDWNECLDTI |
AYEPQIGYCI |
SASTLQQLSF |
|
| 321 |
PVRAYKRLDG |
STECCNNHSL |
TDVCFSYRNN |
FNKRLHTCLP |
ARKAVEATQV |
CRTNKDCKKS |
SSSSFCIIPS |
LETHTRLIKV |
|
| 401 |
KHPPQIDMLY |
VGHPLHLHYT |
VSITSFIPRF |
NFLSIDLPVV |
VETFVKYLIS |
LSGALAIVNA |
VPCFALDGQW |
ILNSFLDATL |
|
| 481 |
TSVIGDNDVK |
DLIGFFILLG |
GSVLLAANVT |
LGLWMVTAR |
|
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>sp|O43462|MBTP2_human Membrane-bound transcription factor site-2 protease
MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRAFYSWGRRKARMLYQWFNFGM
VFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYF
FTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALV
LLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTIAYEPQIGYCISASTLQQLSF
PVRAYKRLDGSTECCNNHSLTDVCFSYRNNFNKRLHTCLPARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKV
KHPPQIDMLYVGHPLHLHYTVSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATL
TSVIGDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR
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