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    ANXA7 annexin A7 [ Homo sapiens (human) ]

    Gene ID: 310, updated on 5-Jul-2015
    Official Symbol
    ANXA7provided by HGNC
    Official Full Name
    annexin A7provided by HGNC
    Primary source
    HGNC:HGNC:545
    See related
    Ensembl:ENSG00000138279; HPRD:01720; MIM:186360; Vega:OTTHUMG00000018463
    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
    SNX; ANX7; SYNEXIN
    Summary
    Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]
    Orthologs
    See ANXA7 in Epigenomics, MapViewer
    Location:
    10q22.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (73375431..73414083, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75135189..75173841, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929112 Neighboring gene DNAJC9 antisense RNA 1 Neighboring gene mitochondrial ribosomal protein S16 Neighboring gene cilia and flagella associated protein 70 Neighboring gene ribosomal protein L26 pseudogene 6 Neighboring gene MSS51 mitochondrial translational activator

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium-dependent phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular water homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    hemostasis IEA
    Inferred from Electronic Annotation
    more info
     
    membrane fusion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    response to calcium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    response to salt stress IEA
    Inferred from Electronic Annotation
    more info
     
    social behavior IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with chromaffin granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    annexin A7
    Names
    annexin VII
    annexin-7

    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_001156.3NP_001147.1  annexin A7 isoform 1

      See identical proteins and their annotated locations for NP_001147.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon, compared to variant 2, resulting in a shorter protein (isoform 1) that lacks an internal segment, compared to isoform 2.
      Source sequence(s)
      AL512656, AW518993, DC367313, J04543
      Consensus CDS
      CCDS7325.1
      UniProtKB/Swiss-Prot
      P20073
      Related
      ENSP00000362012, OTTHUMP00000019812, ENST00000372921, OTTHUMT00000048646
      Conserved Domains (2) summary
      pfam00191
      Location:167232
      Annexin; Annexin
      cl22892
      Location:84165
      DAZAP2; DAZ associated protein 2 (DAZAP2)
    2. NM_004034.2NP_004025.1  annexin A7 isoform 2

      See identical proteins and their annotated locations for NP_004025.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AK312447, AL512656, AW518993, DC367313
      Consensus CDS
      CCDS7326.1
      UniProtKB/TrEMBL
      B2R657
      UniProtKB/Swiss-Prot
      P20073
      Related
      ENSP00000362010, OTTHUMP00000019813, ENST00000372919, OTTHUMT00000048647
      Conserved Domains (2) summary
      pfam00191
      Location:189254
      Annexin; Annexin
      cl22892
      Location:84145
      DAZAP2; DAZ associated protein 2 (DAZAP2)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

      Range
      73375431..73414083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269738.2XP_005269795.1  

      Conserved Domains (2) summary
      pfam00191
      Location:149214
      Annexin; Annexin
      pfam11029
      Location:44105
      DAZAP2; DAZ associated protein 2 (DAZAP2)
    2. XM_005269739.2XP_005269796.1  

      Conserved Domains (2) summary
      pfam00191
      Location:127192
      Annexin; Annexin
      pfam11029
      Location:44125
      DAZAP2; DAZ associated protein 2 (DAZAP2)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      75416936..75455602
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)