SERPINB5 serpin family B member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERPINB5provided by HGNC
Official Full Name: serpin family B member 5provided by HGNC
Primary source: HGNC:HGNC:8949
See related: Ensembl:ENSG00000206075 MIM:154790; AllianceGenome:HGNC:8949
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PI5; maspin
Summary: Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to act upstream of or within several processes, including extracellular matrix organization; prostate gland morphogenesis; and regulation of epithelial cell proliferation. Located in cytoplasm. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in esophagus (RPKM 119.0), skin (RPKM 115.3) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.33

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (63476958..63505085)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (63682029..63710157)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (61144191..61172318)

Chromosome 18 - NC_000018.10 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?

SERPINB5 promotes colorectal cancer invasion and migration by promoting EMT and angiogenesis via the TNF-alpha/NF-kappaB pathway.
Title: SERPINB5 promotes colorectal cancer invasion and migration by promoting EMT and angiogenesis via the TNF-α/NF-κB pathway.
DPM1 modulates desmosomal adhesion and epidermal differentiation through SERPINB5.
Title: DPM1 modulates desmosomal adhesion and epidermal differentiation through SERPINB5.
The Role of Galectin3, Tubulinbeta, and Maspin in Promoting Tumor Budding in Colorectal Carcinoma and Their Clinical Implications.
Title: The Role of Galectin3, Tubulinβ, and Maspin in Promoting Tumor Budding in Colorectal Carcinoma and Their Clinical Implications.
FOXA2 suppresses gallbladder carcinoma cell migration, invasion, and epithelial-mesenchymal transition by targeting SERPINB5.
Title: FOXA2 suppresses gallbladder carcinoma cell migration, invasion, and epithelial-mesenchymal transition by targeting SERPINB5.
Effect of Maspin Gene Methylation Induced by Specific shRNA Sequences on the Proliferation of Oral Squamous Cell Carcinoma HN13 Cells.
Title: Effect of Maspin Gene Methylation Induced by Specific shRNA Sequences on the Proliferation of Oral Squamous Cell Carcinoma HN13 Cells.
PI3K-AKT, JAK2-STAT3 pathways and cell-cell contact regulate maspin subcellular localization.
Title: PI3K-AKT, JAK2-STAT3 pathways and cell-cell contact regulate maspin subcellular localization.
Association and functional significance of genetic variants present in regulatory elements of SERPINB5 gene in gallbladder cancer.
Title: Association and functional significance of genetic variants present in regulatory elements of SERPINB5 gene in gallbladder cancer.
Cytoplasmic-only Expression of Maspin Predicts Poor Prognosis in Patients With Oral Squamous Cell Carcinoma.
Title: Cytoplasmic-only Expression of Maspin Predicts Poor Prognosis in Patients With Oral Squamous Cell Carcinoma.
The potential function of IKKalpha in gastric precancerous lesion via mediating Maspin.
Title: The potential function of IKKα in gastric precancerous lesion via mediating Maspin.
Cytoplasmic-only Expression of Maspin Predicts Unfavorable Prognosis in Patients With Pancreatic Ductal Adenocarcinoma.
Title: Cytoplasmic-only Expression of Maspin Predicts Unfavorable Prognosis in Patients With Pancreatic Ductal Adenocarcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (225)

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

EBI GWAS Catalog

Description
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

GDB:435240 (e-PCR)
- UniSTS:157215

GDB:435245 (e-PCR)
- UniSTS:157216

D11S3014 (e-PCR)
- UniSTS:152118

RH17976 (e-PCR)
- UniSTS:58530

NoName (e-PCR)
- UniSTS:62643

D11S3270 (e-PCR)
- UniSTS:152513

SHGC-12569 (e-PCR)
- UniSTS:11720

SERPINB5_1312 (e-PCR)
- UniSTS:277706

SERPINB5_v405 (e-PCR)
- UniSTS:277706

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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

Process	Evidence Code	Pubs
involved_in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of an epithelium	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in prostate gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cornified envelope	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: serpin B5

Names: PI-5; peptidase inhibitor 5; protease inhibitor 5 (maspin); serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5; serpin peptidase inhibitor, clade B (ovalbumin), member 5

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_002639.5 → NP_002630.2 serpin B5

See identical proteins and their annotated locations for NP_002630.2

Status: VALIDATED

Source sequence(s)

AC036176

Consensus CDS

CCDS32839.1

UniProtKB/Swiss-Prot

B2R6Y4, P36952, Q6N0B4, Q8WW89

Related

ENSP00000372221.4, ENST00000382771.9

Conserved Domains (1) summary

cd02057
Location:4 → 375

maspin_like; Maspin (mammary serine proteinase inhibitor), a member of the serpin superfamily, with a multitude of effects on cells and tissues at an assortment of developmental stages. Maspin has tumor suppressing activity against breast and prostate cancer. In ...

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_000018.10 Reference GRCh38.p14 Primary Assembly

Range

63476958..63505085

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006722483.4 → XP_006722546.1 serpin B5 isoform X1

Conserved Domains (1) summary

cl00137
Location:1 → 204

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 ...