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

Gene ID: 5268, updated on 5-Aug-2022

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 be involved in negative regulation of endopeptidase 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, Apr 2022]
Expression
Biased expression in esophagus (RPKM 119.0), skin (RPKM 115.3) and 3 other tissues See more
Orthologs
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Genomic context

See SERPINB5 in Genome Data Viewer
Location:
18q21.33
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (63476958..63505085)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (63682029..63710157)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (61144191..61172318)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene vacuolar protein sorting 4 homolog B Neighboring gene proteasome 26S subunit, ATPase 5 pseudogene Neighboring gene VPS4B-SERPINB5 intergenic CAGE-defined mid-level expression enhancer Neighboring gene ATP synthase membrane subunit c locus 1 pseudogene 6 Neighboring gene serpin family B member 12 Neighboring gene serpin family B member 13

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?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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
PubMed 
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
PubMed 
located_in sarcoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

  1. NM_002639.5NP_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
    P36952, Q8WW89
    UniProtKB/TrEMBL
    A0A024R2B6
    Related
    ENSP00000372221.4, ENST00000382771.9
    Conserved Domains (1) summary
    cd02057
    Location:4375
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    63476958..63505085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722483.4XP_006722546.1  serpin B5 isoform X1

    Conserved Domains (1) summary
    cl00137
    Location:1204
    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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    63682029..63710157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)