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

Gene ID: 5269, updated on 8-Apr-2024

Summary

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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; AllianceGenome:HGNC:8950
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
all
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Genomic context

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Location:
6p25.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (2948159..2971793, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (2817071..2840707, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (2948393..2972027, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23876 Neighboring gene serpin family B member 9 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23879 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2869952-2870526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2875298-2876239 Neighboring gene SERPINB9 antisense RNA 1 Neighboring gene MPRA-validated peak5624 silencer Neighboring gene serpin family B member 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2903007-2903508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16837 Neighboring gene hESC enhancers GRCh37_chr6:2907997-2908830 and GRCh37_chr6:2908831-2909664 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:2916616-2917158 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:2921833-2922334 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:2928364-2929022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2929023-2929682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2960063-2960678 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2971582-2972106 Neighboring gene SERPINB6-LINC01011 intergenic CAGE-defined mid-level expression enhancer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2988143-2988952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2988953-2989762 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2989763-2990572 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2990573-2991380 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:2994147-2994331 Neighboring gene long intergenic non-protein coding RNA 1011 Neighboring gene NQO2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16839 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3014049-3014548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3017263-3017764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3017765-3018264 Neighboring gene N-ribosyldihydronicotinamide:quinone dehydrogenase 2 Neighboring gene HIV-1 Tat specific factor 1 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Human cytoplasmic antiproteinase neutralizes rapidly and efficiently chymotrypsin and trypsin-like proteases utilizing distinct reactive site residues. Riewald M, et al. J Biol Chem, 1996 Jun 14. PMID 8662739
  2. Identification and characterization of the cytoplasmic antiproteinase (CAP) in human platelets. Evidence for the interaction of CAP with endogenous platelet proteins. Riewald M, et al. J Biol Chem, 1996 Mar 22. PMID 8636153
  3. Identification and purification of a novel serine proteinase inhibitor. Coughlin PB, et al. J Biol Chem, 1993 May 5. PMID 8486644
  4. Isolation and characterization of an intracellular serine proteinase inhibitor from a monkey kidney epithelial cell line. Morgenstern KA, et al. J Biol Chem, 1993 Oct 15. PMID 8408007
  5. Chromosomal mapping of the human proteinase inhibitor 6 (PI6) gene to 6p25 by fluorescence in situ hybridization. Coughlin P, et al. Genomics, 1995 Mar 20. PMID 7601482

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
    Title: A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
  2. the discovery overexpression of GPD1 and RRBP1 proteins and lack of expression for HNRNPH1 and SERPINB6 proteins which are new candidate biomarkers of colon cancer.
    Title: [Colorectal cancer 2D-proteomics: identification of altered protein expression].
  3. Protects the intracellular compartment of keratinocytes from ectopic kallikrein-8.
    Title: SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes.
  4. Expressed in developing gonads and in both somatic and germ cells of adult gonads.
    Title: Expression of serpinb6 serpins in germ and somatic cells of mouse gonads.
  5. In mast cells, SERPINB6 serves to regulate the activity of endogenous beta-tryptase in the cytoplasm.
    Title: Intracellular serpin SERPINB6 (PI6) is abundantly expressed by human mast cells and forms complexes with beta-tryptase monomers.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive nonsyndromic hearing loss 91
MedGen: C3150704 OMIM: 613453 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC111370, DKFZp686I04222

Gene Ontology Provided by GOA

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

General protein information

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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)

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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
    5599..29007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195291.3 → NP_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/TrEMBL
    A0A024QZX5
    Related
    ENSP00000481398.1, ENST00000616722.4
    Conserved Domains (1) summary
    cd19565
    Location:5 → 380
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  2. NM_001271822.2 → NP_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:15 → 390
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  3. NM_001271823.2 → NP_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/TrEMBL
    A0A087X1N8
    Related
    ENSP00000484343.1, ENST00000612421.3
    Conserved Domains (1) summary
    cl00137
    Location:23 → 395
    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_001271824.2 → NP_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
    B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
    Related
    ENSP00000369919.3, ENST00000380546.7
    Conserved Domains (1) summary
    cd19565
    Location:1 → 376
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  5. NM_001271825.2 → NP_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
    B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
    Related
    ENSP00000369896.1, ENST00000380524.5
    Conserved Domains (1) summary
    cd19565
    Location:1 → 376
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  6. NM_001297699.2 → NP_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
    B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
    Related
    ENSP00000493936.1, ENST00000643098.1
    Conserved Domains (1) summary
    cd19565
    Location:1 → 376
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  7. NM_001297700.2 → NP_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
    B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
    Related
    ENSP00000369891.1, ENST00000380520.6
    Conserved Domains (1) summary
    cd19565
    Location:1 → 376
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  8. NM_001374515.1 → NP_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
    Consensus CDS
    CCDS75386.1
    UniProtKB/TrEMBL
    A0A024QZX5
    Conserved Domains (1) summary
    cd19565
    Location:5 → 380
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  9. NM_001374516.1 → NP_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
    Consensus CDS
    CCDS4479.1
    UniProtKB/Swiss-Prot
    B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
    Related
    ENSP00000369901.1, ENST00000380529.5
    Conserved Domains (1) summary
    cd19565
    Location:1 → 376
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  10. NM_001374517.1 → NP_001361446.1  serpin B6 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL133351
    Consensus CDS
    CCDS93850.1
    UniProtKB/TrEMBL
    A0A2R8YD12
    Related
    ENSP00000494161.1, ENST00000642543.1
    Conserved Domains (1) summary
    cl38926
    Location:11 → 332
    serpin; SERine Proteinase INhibitors (serpin) family

  11. NM_004568.6 → NP_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
    B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
    Related
    ENSP00000369912.2, ENST00000380539.7
    Conserved Domains (1) summary
    cd19565
    Location:1 → 376
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047418893.1 → XP_047274849.1  serpin B6 isoform X4

    UniProtKB/TrEMBL
    A0A2R8YD12

  2. XM_011514672.2 → XP_011512974.1  serpin B6 isoform X1

    Conserved Domains (1) summary
    cd02058
    Location:82 → 454
    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 ...

  3. XM_047418885.1 → XP_047274841.1  serpin B6 isoform X1

  4. XM_047418887.1 → XP_047274843.1  serpin B6 isoform X1

  5. XM_047418884.1 → XP_047274840.1  serpin B6 isoform X1

  6. XM_024446465.2 → XP_024302233.1  serpin B6 isoform X4

    UniProtKB/TrEMBL
    A0A2R8YD12
    Conserved Domains (1) summary
    cl38926
    Location:11 → 332
    serpin; SERine Proteinase INhibitors (serpin) family

  7. XM_047418888.1 → XP_047274844.1  serpin B6 isoform X1

  8. XM_047418890.1 → XP_047274846.1  serpin B6 isoform X5

    UniProtKB/TrEMBL
    A0A024QZX5

  9. XM_017010941.2 → XP_016866430.1  serpin B6 isoform X4

    UniProtKB/TrEMBL
    A0A2R8YD12
    Conserved Domains (1) summary
    cl38926
    Location:11 → 332
    serpin; SERine Proteinase INhibitors (serpin) family

  10. XM_047418889.1 → XP_047274845.1  serpin B6 isoform X2

    UniProtKB/TrEMBL
    A0A024QZX5

  11. XM_047418883.1 → XP_047274839.1  serpin B6 isoform X1

  12. XM_047418892.1 → XP_047274848.1  serpin B6 isoform X3

    UniProtKB/Swiss-Prot
    B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7

  13. XM_047418891.1 → XP_047274847.1  serpin B6 isoform X3

    UniProtKB/Swiss-Prot
    B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    2817071..2840707 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355638.1 → XP_054211613.1  serpin B6 isoform X4

    UniProtKB/TrEMBL
    A0A2R8YD12

  2. XM_054355631.1 → XP_054211606.1  serpin B6 isoform X1

  3. XM_054355633.1 → XP_054211608.1  serpin B6 isoform X1

  4. XM_054355634.1 → XP_054211609.1  serpin B6 isoform X1

  5. XM_054355632.1 → XP_054211607.1  serpin B6 isoform X1

  6. XM_054355635.1 → XP_054211610.1  serpin B6 isoform X1

  7. XM_054355639.1 → XP_054211614.1  serpin B6 isoform X4

    UniProtKB/TrEMBL
    A0A2R8YD12

  8. XM_054355630.1 → XP_054211605.1  serpin B6 isoform X1

  9. XM_054355636.1 → XP_054211611.1  serpin B6 isoform X2

    UniProtKB/TrEMBL
    A0A024QZX5

  10. XM_054355637.1 → XP_054211612.1  serpin B6 isoform X3

    UniProtKB/Swiss-Prot
    B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P35237.3 GenPept UniProtKB/Swiss-Prot:P35237

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