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    ANXA5 annexin A5 [ Homo sapiens (human) ]

    Gene ID: 308, updated on 19-Jun-2024

    Summary

    Official Symbol
    ANXA5provided by HGNC
    Official Full Name
    annexin A5provided by HGNC
    Primary source
    HGNC:HGNC:543
    See related
    Ensembl:ENSG00000164111 MIM:131230; AllianceGenome:HGNC:543
    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; CPB-I; RPRGL3; HEL-S-7; VAC-alph
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ANXA5 in Genome Data Viewer
    Location:
    4q27
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (121667946..121696980, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (124971975..125001007, complement)
    105.20220307 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 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:122611545-122612744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15659 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:122633152-122634351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15660 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:122669697-122670300 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:122670301-122670904 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_72694 Neighboring gene small integral membrane protein 43 Neighboring gene uncharacterized LOC100192379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21868 Neighboring gene Sharpr-MPRA regulatory region 4891 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:122721667-122722470 Neighboring gene exosome component 9 Neighboring gene cyclin A2

    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
    Pregnancy loss, recurrent, susceptibility to, 3
    MedGen: C3280674 OMIM: 614391 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of smoking behaviours in patients with COPD.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium-dependent phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium-dependent phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylserine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 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)

    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_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
      D3DNW7, P08758, Q6FHB3, Q6FI16, Q8WV69, Q9UDH9
      UniProtKB/TrEMBL
      D6RBL5, V9HWE0
      Related
      ENSP00000296511.5, ENST00000296511.10
      Conserved Domains (1) summary
      pfam00191
      Location:2084
      Annexin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      121667946..121696980 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008141.3XP_016863630.1  annexin A5 isoform X1

      UniProtKB/TrEMBL
      E9PHT9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      124971975..125001007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349860.1XP_054205835.1  annexin A5 isoform X1

      UniProtKB/TrEMBL
      E9PHT9