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    BIRC5 baculoviral IAP repeat containing 5 [ Homo sapiens (human) ]

    Gene ID: 332, updated on 19-Sep-2021

    Summary

    Official Symbol
    BIRC5provided by HGNC
    Official Full Name
    baculoviral IAP repeat containing 5provided by HGNC
    Primary source
    HGNC:HGNC:593
    See related
    Ensembl:ENSG00000089685 MIM:603352
    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
    API4; EPR-1
    Summary
    This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
    Expression
    Biased expression in bone marrow (RPKM 13.2), testis (RPKM 10.8) and 12 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See BIRC5 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (78214253..78225635)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76210334..76221716)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985050 Neighboring gene thymidine kinase 1 Neighboring gene arylformamidase Neighboring gene transmembrane protein 235 Neighboring gene uncharacterized LOC105371910 Neighboring gene threonine aldolase 1, pseudogene

    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

    Associated conditions

    Description Tests
    A genome-wide association study of behavioral disinhibition.
    GeneReviews: Not available
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    GeneReviews: Not available
    Genome-wide association study of chronic periodontitis in a general German population.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr upregulates survivin expression by transactivating the survivin promoter PubMed

    Go to the HIV-1, Human Interaction Database

    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 chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microtubule binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of chromosome passenger complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in spindle microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    baculoviral IAP repeat-containing protein 5
    Names
    apoptosis inhibitor 4
    apoptosis inhibitor survivin
    survivin variant 3 alpha

    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.

    Genomic

    1. NG_029069.1 RefSeqGene

      Range
      5058..16440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001012270.2NP_001012270.1  baculoviral IAP repeat-containing protein 5 isoform 2

      See identical proteins and their annotated locations for NP_001012270.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as survivin-deltaEx3, lacks an exon in the 3' coding region which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus when it is compared to isoform 1.
      Source sequence(s)
      AI800528, AL519719, AL547142, BC008718, BG178974, BI254058, BI520186, BM476145
      Consensus CDS
      CCDS32751.1
      UniProtKB/Swiss-Prot
      O15392
      Related
      ENSP00000364086.1, ENST00000374948.6
      Conserved Domains (1) summary
      pfam00653
      Location:1876
      BIR; Inhibitor of Apoptosis domain
    2. NM_001012271.2NP_001012271.1  baculoviral IAP repeat-containing protein 5 isoform 3

      See identical proteins and their annotated locations for NP_001012271.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as survivin-2B, includes an alternate in-frame segment, compared to variant 1, resulting in a longer protein (isoform 3) that has a distinct sequence when it is compared to isoform 1.
      Source sequence(s)
      AB028869, AI800528, AL519719, BC008718, BE537971, BG759111, BI254058, BI520186, BQ687404, CB112371
      Consensus CDS
      CCDS32752.1
      UniProtKB/Swiss-Prot
      O15392
      UniProtKB/TrEMBL
      H3BLT4
      Related
      ENSP00000301633.3, ENST00000301633.8
      Conserved Domains (1) summary
      pfam00653
      Location:18110
      BIR; Inhibitor of Apoptosis domain
    3. NM_001168.3NP_001159.2  baculoviral IAP repeat-containing protein 5 isoform 1

      See identical proteins and their annotated locations for NP_001159.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the most frequently occurring transcript and it encodes isoform 1.
      Source sequence(s)
      AI800528, AL519719, BC008718, BC034148, BG759111, BI254058, BI520186
      Consensus CDS
      CCDS11755.1
      UniProtKB/Swiss-Prot
      O15392
      UniProtKB/TrEMBL
      A0A0B4J1S3
      Related
      ENSP00000324180.4, ENST00000350051.8
      Conserved Domains (1) summary
      pfam00653
      Location:1887
      BIR; Inhibitor of Apoptosis domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      78214253..78225635
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_934452.3 RNA Sequence

    2. XR_243654.5 RNA Sequence

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