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    ANXA5 annexin A5 [ Homo sapiens (human) ]

    Gene ID: 308, updated on 8-Jul-2021

    Summary

    Official Symbol
    ANXA5provided by HGNC
    Official Full Name
    annexin A5provided by HGNC
    Primary source
    HGNC:HGNC:543
    See related
    Ensembl:ENSG00000164111 MIM:131230
    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
    PP4; ANX5; ENX2; RPRGL3; HEL-S-7
    Summary
    The Annexin 5 gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa.The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. Polymorphisms in this gene have been implicated in various obstetric complications. [provided by RefSeq, Dec 2019]
    Expression
    Ubiquitous expression in fat (RPKM 198.4), placenta (RPKM 170.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ANXA5 in Genome Data Viewer
    Location:
    4q27
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (121667946..121696994, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (122589101..122618135, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377401 Neighboring gene uncharacterized LOC105377402 Neighboring gene small integral membrane protein 43 Neighboring gene uncharacterized LOC100192379 Neighboring gene Sharpr-MPRA regulatory region 4891

    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
    Genome-wide association study of smoking behaviours in patients with COPD.
    GeneReviews: Not available
    Pregnancy loss, recurrent, susceptibility to, 3
    MedGen: C3280674 OMIM: 614391 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of annexin A5 (ANXA5) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of annexin A4 and A5 in umbilical cord blood mononuclear cells and T-cell lines but downregulates the expression of annexin A1 in umbilical cord blood mononuclear cells PubMed
    Tat tat HIV-1 Tat-induced programmed neuronal cell death involves downregulation of annexin 5 PubMed
    tat HIV-1 Tat is strongly associated with ANXA5 in HIV-1-infected lymphocytic cells PubMed
    capsid gag HIV-1 CA is strongly associated with ANXA5 in HIV-1-infected lymphocytic cells 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 calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calcium-dependent phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables phospholipid binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    annexin A5
    Names
    CBP-I
    PAP-I
    VAC-alpha
    anchorin CII
    annexin V
    annexin-5
    calphobindin I
    endonexin II
    epididymis secretory protein Li 7
    lipocortin V
    placental anticoagulant protein 4
    placental anticoagulant protein I
    thromboplastin inhibitor
    vascular anticoagulant-alpha

    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.

    Genomic

    1. NG_032042.1 RefSeqGene

      Range
      5013..34047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_606

    mRNA and Protein(s)

    1. NM_001154.4NP_001145.1  annexin A5

      See identical proteins and their annotated locations for NP_001145.1

      Status: REVIEWED

      Source sequence(s)
      AC096730, AK312644, BC001429, J03745
      Consensus CDS
      CCDS3720.1
      UniProtKB/Swiss-Prot
      P08758
      UniProtKB/TrEMBL
      V9HWE0
      Related
      ENSP00000296511.5, ENST00000296511.10
      Conserved Domains (1) summary
      pfam00191
      Location:2084
      Annexin

    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_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      121667946..121696994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008141.2XP_016863630.1  annexin A5 isoform X1

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