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SERPINB6 serpin family B member 6 [ Homo sapiens (human) ]

Gene ID: 5269, updated on 4-Oct-2020

Summary

Official Symbol
SERPINB6provided by HGNC
Official Full Name
serpin family B member 6provided by HGNC
Primary source
HGNC:HGNC:8950
See related
Ensembl:ENSG00000124570 MIM:173321
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAP; PI6; PTI; PI-6; SPI3; DFNB91; MSTP057
Summary
The 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]
Expression
Ubiquitous expression in small intestine (RPKM 25.4), testis (RPKM 22.1) and 25 other tissues See more
Orthologs

Genomic context

See SERPINB6 in Genome Data Viewer
Location:
6p25.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (2948159..2971793, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (2948393..2972399, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927730 Neighboring gene serpin family B member 9 Neighboring gene uncharacterized LOC105374887 Neighboring gene SERPINB6-LINC01011 intergenic CAGE-defined mid-level expression enhancer Neighboring gene long intergenic non-protein coding RNA 1011 Neighboring gene NQO2 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111370, DKFZp686I04222

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular response to osmotic stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
NOT nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
secretory granule membrane TAS
Traceable Author Statement
more info
 
serine protease inhibitor complex IDA
Inferred from Direct Assay
more info
PubMed 
tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
serpin B6
Names
cytoplasmic antiproteinase
protease inhibitor 6 (placental thrombin inhibitor)
serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6
serpin peptidase inhibitor, clade B (ovalbumin), member 6

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027692.1 RefSeqGene

    Range
    5001..29007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195291.3NP_001182220.2  serpin B6 isoform b

    See identical proteins and their annotated locations for NP_001182220.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional exon in the 5' region, which includes an upstream in-frame AUG start codon, compared to variant 1. The resulting isoform (b) has a longer N-terminus, compared to isoform a. Variants 2 and 9 both encode the same isoform (b).
    Source sequence(s)
    AL133351
    Consensus CDS
    CCDS75386.1
    UniProtKB/Swiss-Prot
    P35237
    UniProtKB/TrEMBL
    A0A024QZX5
    Related
    ENSP00000481398.1, ENST00000616722.4
    Conserved Domains (1) summary
    cd19565
    Location:5380
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
  2. NM_001271822.2NP_001258751.1  serpin B6 isoform c

    See identical proteins and their annotated locations for NP_001258751.1

    Status: REVIEWED

    Source sequence(s)
    AL133351, BC001394, CX782163, HY169891
    UniProtKB/Swiss-Prot
    P35237
    Conserved Domains (1) summary
    cd19565
    Location:15390
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
  3. NM_001271823.2NP_001258752.1  serpin B6 isoform d

    See identical proteins and their annotated locations for NP_001258752.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' exon, which includes an upstream in-frame AUG start codon, compared to variant 1. The resulting isoform (d) has a longer N-terminus, compared to isoform a.
    Source sequence(s)
    AL133351
    Consensus CDS
    CCDS75387.1
    UniProtKB/Swiss-Prot
    P35237
    UniProtKB/TrEMBL
    A0A087X1N8
    Related
    ENSP00000484343.1, ENST00000612421.3
    Conserved Domains (1) summary
    cl00137
    Location:23395
    SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...
  4. NM_001271824.2NP_001258753.1  serpin B6 isoform a

    See identical proteins and their annotated locations for NP_001258753.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an additional segment in the 5' UTR, compared to variant 1. Variants 1, 5-8, and 10 all encode the same isoform (a).
    Source sequence(s)
    AL133351
    Consensus CDS
    CCDS4479.1
    UniProtKB/Swiss-Prot
    P35237
    UniProtKB/TrEMBL
    A0A024QZX3
    Related
    ENSP00000369919.3, ENST00000380546.7
    Conserved Domains (1) summary
    cd19565
    Location:1376
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
  5. NM_001271825.2NP_001258754.1  serpin B6 isoform a

    See identical proteins and their annotated locations for NP_001258754.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate 5' UTR exon, compared to variant 1. Variants 1, 5-8, and 10 all encode the same isoform (a).
    Source sequence(s)
    BC001394, CX755337, DA847833
    Consensus CDS
    CCDS4479.1
    UniProtKB/Swiss-Prot
    P35237
    UniProtKB/TrEMBL
    A0A024QZX3
    Related
    ENSP00000369896.1, ENST00000380524.5
    Conserved Domains (1) summary
    cd19565
    Location:1376
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
  6. NM_001297699.2NP_001284628.1  serpin B6 isoform a

    See identical proteins and their annotated locations for NP_001284628.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an additional segment in the 5' UTR, compared to variant 1. Variants 1, 5-8, and 10 all encode the same isoform (a).
    Source sequence(s)
    AL133351
    Consensus CDS
    CCDS4479.1
    UniProtKB/Swiss-Prot
    P35237
    UniProtKB/TrEMBL
    A0A024QZX3
    Related
    ENSP00000493936.1, ENST00000643098.1
    Conserved Domains (1) summary
    cd19565
    Location:1376
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
  7. NM_001297700.2NP_001284629.1  serpin B6 isoform a

    See identical proteins and their annotated locations for NP_001284629.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) contains an alternate 5' UTR exon, compared to variant 1. Variants 1, 5-8, and 10 all encode the same isoform (a).
    Source sequence(s)
    AL133351
    Consensus CDS
    CCDS4479.1
    UniProtKB/Swiss-Prot
    P35237
    UniProtKB/TrEMBL
    A0A024QZX3
    Related
    ENSP00000369891.1, ENST00000380520.6
    Conserved Domains (1) summary
    cd19565
    Location:1376
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
  8. NM_001374515.1NP_001361444.1  serpin B6 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variant 2, encodes isoform b.
    Source sequence(s)
    AL133351
    Conserved Domains (1) summary
    cd19565
    Location:5380
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
  9. NM_001374516.1NP_001361445.1  serpin B6 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 1 and 5-8, encodes isoform a.
    Source sequence(s)
    AL133351
    Related
    ENSP00000369901.1, ENST00000380529.5
    Conserved Domains (1) summary
    cd19565
    Location:1376
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
  10. NM_001374517.1NP_001361446.1  serpin B6 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL133351
    Related
    ENSP00000494161.1, ENST00000642543.1
  11. NM_004568.6NP_004559.4  serpin B6 isoform a

    See identical proteins and their annotated locations for NP_004559.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 5-8, and 10 all encode the same isoform (a).
    Source sequence(s)
    AL133351
    Consensus CDS
    CCDS4479.1
    UniProtKB/Swiss-Prot
    P35237
    UniProtKB/TrEMBL
    A0A024QZX3
    Related
    ENSP00000369912.1, ENST00000380539.6
    Conserved Domains (1) summary
    cd19565
    Location:1376
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

RNA

  1. NR_164657.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL133351

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    2948159..2971793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514672.1XP_011512974.1  serpin B6 isoform X1

    Conserved Domains (1) summary
    cd02058
    Location:82454
    PAI-2; Plasminogen Activator Inhibitor-2 (PAI-2). PAI-2 is a serine protease inhibitor that belongs to the ov-serpin branch of the serpin superfamily. It is is an effective inhibitor of urinary plasminogen activator (urokinase or uPA) and is involved in cell ...
  2. XM_017010940.1XP_016866429.1  serpin B6 isoform X2

    UniProtKB/TrEMBL
    A0A024QZX5
    Conserved Domains (1) summary
    cd19565
    Location:5380
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
  3. XM_024446462.1XP_024302230.1  serpin B6 isoform X2

    Conserved Domains (1) summary
    cd19565
    Location:5380
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
  4. XM_024446465.1XP_024302233.1  serpin B6 isoform X5

    Conserved Domains (1) summary
    cl00137
    Location:12332
    SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...
  5. XM_017010941.1XP_016866430.1  serpin B6 isoform X5

    Conserved Domains (1) summary
    cl00137
    Location:12332
    SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...
  6. XM_024446464.1XP_024302232.1  serpin B6 isoform X4

    Conserved Domains (1) summary
    cd19565
    Location:1376
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
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