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MGP002279

Record overview

MGPD IDMGP002279
Gene ID5269
SpeciesHomo sapiens (Human)
Gene Nameserpin peptidase inhibitor, clade B (ovalbumin), member 6
Gene Symbol SERPINB6
SynonymsCAP; PI6; PTI; PI-6; SPI3; DFNB91; MSTP057;
Alternate namesserpin B6; cytoplasmic antiproteinase; protease inhibitor 6 (placental thrombin inhibitor); serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6;
Chromosome6
Map Location6p25
SummaryThe protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
OrthologsView orthologs and multiple alignments for SERPINB6

Proteins

serpin B6 isoform a
Refseq ID:NP_004559
Protein GI:41152086
UniProt ID:P35237
mRNA ID:NM_004568
Length:376
RefSeq Status:
MDVLAEANGTFALNLLKTLGKDNSKNVFFSPMSMSCALAMVYMGAKGNTAAQMAQILSFNKSGGGGDIHQGFQSLLTEVNKTGTQYLLRMANRLFGEKSC
DFLSSFRDSCQKFYQAEMEELDFISAVEKSRKHINTWVAEKTEGKIAELLSPGSVDPLTRLVLVNAVYFRGNWDEQFDKENTEERLFKVSKNEEKPVQMM
FKQSTFKKTYIGEIFTQILVLPYVGKELNMIIMLPDETTDLRTVEKELTYEKFVEWTRLDMMDEEEVEVSLPRFKLEESYDMESVLRNLGMTDAFELGKA
DFSGMSQTDLSLSKVVHKSFVEVNEEGTEAAAATAAIMMMRCARFVPRFCADHPFLFFIQHSKTNGILFCGRFSSP
 
serpin B6 isoform a
Refseq ID:NP_001258754
Protein GI:425876772
UniProt ID:P35237
mRNA ID:NM_001271825
Length:376
RefSeq Status:
Protein sequence is identical to GI:41152086 (mRNA isoform)
 
serpin B6 isoform a
Refseq ID:NP_001284628
Protein GI:663071052
UniProt ID:P35237
mRNA ID:NM_001297699
Length:376
RefSeq Status:
Protein sequence is identical to GI:41152086 (mRNA isoform)
 
serpin B6 isoform a
Refseq ID:NP_001258753
Protein GI:425876770
UniProt ID:P35237
mRNA ID:NM_001271824
Length:376
RefSeq Status:
Protein sequence is identical to GI:41152086 (mRNA isoform)
 
serpin B6 isoform a
Refseq ID:NP_001284629
Protein GI:663071054
UniProt ID:P35237
mRNA ID:NM_001297700
Length:376
RefSeq Status:
Protein sequence is identical to GI:41152086 (mRNA isoform)
 
serpin B6 isoform b
Refseq ID:NP_001182220
Protein GI:425876796
UniProt ID:P35237
mRNA ID:NM_001195291
Length:380
RefSeq Status:
MSAIMDVLAEANGTFALNLLKTLGKDNSKNVFFSPMSMSCALAMVYMGAKGNTAAQMAQILSFNKSGGGGDIHQGFQSLLTEVNKTGTQYLLRMANRLFG
EKSCDFLSSFRDSCQKFYQAEMEELDFISAVEKSRKHINTWVAEKTEGKIAELLSPGSVDPLTRLVLVNAVYFRGNWDEQFDKENTEERLFKVSKNEEKP
VQMMFKQSTFKKTYIGEIFTQILVLPYVGKELNMIIMLPDETTDLRTVEKELTYEKFVEWTRLDMMDEEEVEVSLPRFKLEESYDMESVLRNLGMTDAFE
LGKADFSGMSQTDLSLSKVVHKSFVEVNEEGTEAAAATAAIMMMRCARFVPRFCADHPFLFFIQHSKTNGILFCGRFSSP
 
serpin B6 isoform c
Refseq ID:NP_001258751
Protein GI:425876766
UniProt ID:P35237
mRNA ID:NM_001271822
Length:390
RefSeq Status:
MGAAQSLPGHRSAIMDVLAEANGTFALNLLKTLGKDNSKNVFFSPMSMSCALAMVYMGAKGNTAAQMAQILSFNKSGGGGDIHQGFQSLLTEVNKTGTQY
LLRMANRLFGEKSCDFLSSFRDSCQKFYQAEMEELDFISAVEKSRKHINTWVAEKTEGKIAELLSPGSVDPLTRLVLVNAVYFRGNWDEQFDKENTEERL
FKVSKNEEKPVQMMFKQSTFKKTYIGEIFTQILVLPYVGKELNMIIMLPDETTDLRTVEKELTYEKFVEWTRLDMMDEEEVEVSLPRFKLEESYDMESVL
RNLGMTDAFELGKADFSGMSQTDLSLSKVVHKSFVEVNEEGTEAAAATAAIMMMRCARFVPRFCADHPFLFFIQHSKTNGILFCGRFSSP
 
serpin B6 isoform d
Refseq ID:NP_001258752
Protein GI:425876768
UniProt ID:P35237
mRNA ID:NM_001271823
Length:395
RefSeq Status:
MSSRQRGNFNYKLAFKSAIMDVLAEANGTFALNLLKTLGKDNSKNVFFSPMSMSCALAMVYMGAKGNTAAQMAQILSFNKSGGGGDIHQGFQSLLTEVNK
TGTQYLLRMANRLFGEKSCDFLSSFRDSCQKFYQAEMEELDFISAVEKSRKHINTWVAEKTEGKIAELLSPGSVDPLTRLVLVNAVYFRGNWDEQFDKEN
TEERLFKVSKNEEKPVQMMFKQSTFKKTYIGEIFTQILVLPYVGKELNMIIMLPDETTDLRTVEKELTYEKFVEWTRLDMMDEEEVEVSLPRFKLEESYD
MESVLRNLGMTDAFELGKADFSGMSQTDLSLSKVVHKSFVEVNEEGTEAAAATAAIMMMRCARFVPRFCADHPFLFFIQHSKTNGILFCGRFSSP
 
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