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    ANXA7 annexin A7 [ Homo sapiens (human) ]

    Gene ID: 310, updated on 11-Apr-2024

    Summary

    Official Symbol
    ANXA7provided by HGNC
    Official Full Name
    annexin A7provided by HGNC
    Primary source
    HGNC:HGNC:545
    See related
    Ensembl:ENSG00000138279 MIM:186360; AllianceGenome:HGNC:545
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 52.9), kidney (RPKM 46.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ANXA7 in Genome Data Viewer
    Location:
    10q22.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73375101..73414058, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74246516..74285473, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75134859..75173816, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 70 Neighboring gene RNA, U6 small nuclear 833, pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 9775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:75117765-75118290 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:75118291-75118816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:75165474-75165974 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:75170289-75170496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3561 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2483 Neighboring gene ribosomal protein L26 pseudogene 6 Neighboring gene MSS51 mitochondrial translational activator

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphatidylserine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with chromaffin granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    annexin A7
    Names
    annexin VII
    annexin-7

    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_001156.5NP_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, BQ017137, HY002854, J04543
      Consensus CDS
      CCDS7325.1
      UniProtKB/TrEMBL
      B2R7L2
      Related
      ENSP00000362012.4, ENST00000372921.10
      Conserved Domains (2) summary
      pfam00191
      Location:167232
      Annexin; Annexin
      pfam14944
      Location:78165
      TCRP1; Tongue Cancer Chemotherapy Resistant Protein 1
    2. NM_001320879.2NP_001307808.1  annexin A7 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region including an alternate in-frame exon, and initiates translation at a downstream start site compared to variant 2. The encoded isoform (4) is shorter than isoform 2.
      Source sequence(s)
      AL512656, BQ017137, BQ689410, BX361177, HY002854
      UniProtKB/TrEMBL
      B2R7L2
      Conserved Domains (2) summary
      pfam00191
      Location:127192
      Annexin; Annexin
      pfam04959
      Location:37106
      ARS2; Arsenite-resistance protein 2
    3. NM_001320880.2NP_001307809.1  annexin A7 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start site compared to variant 2. The encoded isoform (3) has a shorter N-terminus than isoform 2.
      Source sequence(s)
      AL512656, BQ017137, BQ689410, BX361177, DA131184
      UniProtKB/TrEMBL
      B2R657
      Conserved Domains (2) summary
      pfam00191
      Location:149214
      Annexin; Annexin
      pfam04959
      Location:37103
      ARS2; Arsenite-resistance protein 2
    4. NM_004034.4NP_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, BQ017137
      Consensus CDS
      CCDS7326.1
      UniProtKB/Swiss-Prot
      P20073, Q5F2H3, Q5T0M6, Q5T0M7
      UniProtKB/TrEMBL
      B2R657
      Related
      ENSP00000362010.4, ENST00000372919.8
      Conserved Domains (2) summary
      pfam00191
      Location:189254
      Annexin; Annexin
      pfam04959
      Location:77143
      ARS2; Arsenite-resistance protein 2

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      73375101..73414058 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016162.3XP_016871651.1  annexin A7 isoform X1

      UniProtKB/Swiss-Prot
      P20073, Q5F2H3, Q5T0M6, Q5T0M7
      UniProtKB/TrEMBL
      B2R657
      Conserved Domains (2) summary
      pfam00191
      Location:189254
      Annexin; Annexin
      pfam04959
      Location:77143
      ARS2; Arsenite-resistance protein 2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      74246516..74285473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)