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

    Gene ID: 5268, updated on 10-Dec-2024

    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, Dec 2024]
    Expression
    Biased expression in esophagus (RPKM 119.0), skin (RPKM 115.3) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SERPINB5 in Genome Data Viewer
    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_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904316 Neighboring gene vacuolar protein sorting 4 homolog B Neighboring gene proteasome 26S subunit, ATPase 5 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13468 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:61094350-61095549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9530 Neighboring gene VPS4B-SERPINB5 intergenic CAGE-defined mid-level expression enhancer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:61134418-61135617 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:61142940-61144139 Neighboring gene ATP synthase membrane subunit c locus 1 pseudogene 6 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:61178432-61178952 Neighboring gene serpin family B member 12 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:61255863-61257062 Neighboring gene serpin family B member 13

    Genomic regions, transcripts, and products

    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

    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

    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)

    NEW Try the new Transcript table

    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
      B2R6Y4, P36952, Q6N0B4, Q8WW89
      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: 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

    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)

    mRNA and Protein(s)

    1. XM_054318687.1XP_054174662.1  serpin B5 isoform X1