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ANXA7 annexin A7 [ Homo sapiens (human) ]

Gene ID: 310, updated on 9-Feb-2020

Summary

Official Symbol
ANXA7provided by HGNC
Official Full Name
annexin A7provided by HGNC
Primary source
HGNC:HGNC:545
See related
Ensembl:ENSG00000138279 MIM:186360
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

Genomic context

See ANXA7 in Genome Data Viewer
Location:
10q22.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (73375101..73414058, 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 DNAJC9 antisense RNA 1 Neighboring gene mitochondrial ribosomal protein S16 Neighboring gene cilia and flagella associated protein 70 Neighboring gene RNA, U6 small nuclear 833, pseudogene 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integrin binding IPI
Inferred from Physical Interaction
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular water homeostasis IEA
Inferred from Electronic Annotation
more info
 
epithelial cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
response to salt stress IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with chromaffin granule membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with chromaffin granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
annexin A7
Names
annexin VII
annexin-7

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    P20073
    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
    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
    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
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017016162.2XP_016871651.1  annexin A7 isoform X1

    UniProtKB/Swiss-Prot
    P20073
    Conserved Domains (2) summary
    pfam00191
    Location:189254
    Annexin; Annexin
    pfam04959
    Location:77143
    ARS2; Arsenite-resistance protein 2
  2. XM_017016163.2XP_016871652.1  annexin A7 isoform X2

    UniProtKB/Swiss-Prot
    P20073
    Conserved Domains (2) summary
    pfam00191
    Location:167232
    Annexin; Annexin
    pfam14944
    Location:78165
    TCRP1; Tongue Cancer Chemotherapy Resistant Protein 1
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