SERPINB9 serpin family B member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERPINB9provided by HGNC
Official Full Name: serpin family B member 9provided by HGNC
Primary source: HGNC:HGNC:8955
See related: Ensembl:ENSG00000170542 MIM:601799; AllianceGenome:HGNC:8955
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: PI9; CAP3; PI-9; CAP-3
Summary: This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012]
Expression: Broad expression in placenta (RPKM 26.1), appendix (RPKM 19.1) and 21 other tissues See more
Orthologs: all
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Genomic context

Location:: 6p25.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (2887270..2903309, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (2753393..2769547, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (2887504..2903543, 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mass Spectrometry-Based Proteomics Identifies Serpin B9 as a Key Protein in Promoting Bone Metastases in Lung Cancer.
Title: Mass Spectrometry-Based Proteomics Identifies Serpin B9 as a Key Protein in Promoting Bone Metastases in Lung Cancer.
Overexpression of SerpinB9 in non-seminomatous germ cell tumors.
Title: Overexpression of SerpinB9 in non-seminomatous germ cell tumors.
The expression analysis of SerpinB9 in hepatoblastoma microenvironment.
Title: The expression analysis of SerpinB9 in hepatoblastoma microenvironment.
Serpin B9 controls tumor cell killing by CAR T cells.
Title: Serpin B9 controls tumor cell killing by CAR T cells.
SERPINB9 is commonly amplified and high expression in cancer cells correlates with poor immune checkpoint blockade response.
Title: SERPINB9 is commonly amplified and high expression in cancer cells correlates with poor immune checkpoint blockade response.
Decreased GZMB, NRP1, ITPR1, and SERPINB9 Transcripts Lead to Reduced Regulatory T Cells Suppressive Capacity in Generalized Vitiligo Patients.
Title: Decreased GZMB, NRP1, ITPR1, and SERPINB9 Transcripts Lead to Reduced Regulatory T Cells Suppressive Capacity in Generalized Vitiligo Patients.
Proteomics-Based Approach Reveals the Involvement of SERPINB9 in Recurrent and Relapsed Multiple Myeloma.
Title: Proteomics-Based Approach Reveals the Involvement of SERPINB9 in Recurrent and Relapsed Multiple Myeloma.
Identification of CD56(dim) subpopulation marked with high expression of GZMB/PRF1/PI-9 in CD56(+) interferon-alpha-induced dendritic cells.
Title: Identification of CD56(dim) subpopulation marked with high expression of GZMB/PRF1/PI-9 in CD56(+) interferon-α-induced dendritic cells.
Telomere length correlates with subtelomeric DNA methylation in long-term mindfulness practitioners.
Title: Telomere length correlates with subtelomeric DNA methylation in long-term mindfulness practitioners.
It was concluded that disturbed regulation of serpinB9 in circulating T cells represents a novel risk factor for post-transplant Cutaneous squamous cell carcinoma in kidney transplant recipients.
Title: Disrupted regulation of serpinB9 in circulating T cells is associated with an increased risk for post-transplant skin cancer.

Submit: New GeneRIF Correction See all GeneRIFs (39)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

L17705 (e-PCR)
- UniSTS:66091

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D11S3114 (e-PCR)
- UniSTS:152207

L17877 (e-PCR)
- UniSTS:61334

RH75915 (e-PCR)
- UniSTS:88993

RH48376 (e-PCR)
- UniSTS:57305

RH104467 (e-PCR)
- UniSTS:98791

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein 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 estrogen stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in mast cell mediated immunity	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of apoptotic process	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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protection from natural killer cell mediated cytotoxicity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: serpin B9

Names: cytoplasmic antiproteinase 3; peptidase inhibitor 9; protease inhibitor 9 (ovalbumin type); serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9; serpin peptidase inhibitor, clade B (ovalbumin), member 9; serpin peptidase inhibitor, clade B, member 9; testicular tissue protein Li 180

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.

mRNA and Protein(s)

NM_004155.6 → NP_004146.1 serpin B9

See identical proteins and their annotated locations for NP_004146.1

Status: REVIEWED

Source sequence(s)

AL133351, BC002538, BX485378

Consensus CDS

CCDS4478.1

UniProtKB/Swiss-Prot

B2RBW3, P50453, Q5TD03

UniProtKB/TrEMBL

A0A024QZT4

Related

ENSP00000370074.4, ENST00000380698.5

Conserved Domains (1) summary

cl00137
Location:4 → 376

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 ...

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

2887270..2903309 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005249184.6 → XP_005249241.1 serpin B9 isoform X1

See identical proteins and their annotated locations for XP_005249241.1

UniProtKB/Swiss-Prot

B2RBW3, P50453, Q5TD03

UniProtKB/TrEMBL

A0A024QZT4

Conserved Domains (1) summary

cl00137
Location:4 → 376

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 ...
XM_011514678.3 → XP_011512980.1 serpin B9 isoform X2

See identical proteins and their annotated locations for XP_011512980.1

Conserved Domains (1) summary

cl00137
Location:13 → 325

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 ...
XM_047418894.1 → XP_047274850.1 serpin B9 isoform X2