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

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; 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

Location:: 6p25.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (2948159..2971793, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (2817071..2840707, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (2948393..2972027, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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].
Protects the intracellular compartment of keratinocytes from ectopic kallikrein-8.
Title: SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes.
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.
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.

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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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH68324 (e-PCR)
- UniSTS:34818

D8S2279 (e-PCR)
- UniSTS:473907

GDB:314949 (e-PCR)
- UniSTS:156503

D1S1423 (e-PCR)
- UniSTS:149619

SGC35714 (e-PCR)
- UniSTS:64633

SHGC-78089 (e-PCR)
- UniSTS:102047

RH71006 (e-PCR)
- UniSTS:70874

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 more info	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 more info	PubMed
located_in extracellular region	HDA more info	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

NG_027692.1 RefSeqGene

Range

5599..29007

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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 ...
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
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
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
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
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
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
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
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

NR_164657.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133351

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

2948159..2971793 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047418893.1 → XP_047274849.1 serpin B6 isoform X4

UniProtKB/TrEMBL

A0A2R8YD12
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 ...
XM_047418885.1 → XP_047274841.1 serpin B6 isoform X1
XM_047418887.1 → XP_047274843.1 serpin B6 isoform X1
XM_047418884.1 → XP_047274840.1 serpin B6 isoform X1
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
XM_047418888.1 → XP_047274844.1 serpin B6 isoform X1
XM_047418890.1 → XP_047274846.1 serpin B6 isoform X5

UniProtKB/TrEMBL

A0A024QZX5
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
XM_047418889.1 → XP_047274845.1 serpin B6 isoform X2

UniProtKB/TrEMBL

A0A024QZX5
XM_047418883.1 → XP_047274839.1 serpin B6 isoform X1
XM_047418892.1 → XP_047274848.1 serpin B6 isoform X3

UniProtKB/Swiss-Prot

B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
XM_047418891.1 → XP_047274847.1 serpin B6 isoform X3

UniProtKB/Swiss-Prot

B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7