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ANXA9 annexin A9 [ Homo sapiens (human) ]

Gene ID: 8416, updated on 22-Nov-2020

Summary

Official Symbol
ANXA9provided by HGNC
Official Full Name
annexin A9provided by HGNC
Primary source
HGNC:HGNC:547
See related
Ensembl:ENSG00000143412 MIM:603319
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ANX31
Summary
The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008]
Expression
Broad expression in kidney (RPKM 12.1), thyroid (RPKM 11.7) and 23 other tissues See more
Orthologs

Genomic context

See ANXA9 in Genome Data Viewer
Location:
1q21.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (150982286..150996063)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150954499..150968114)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr1.8492 Neighboring gene uncharacterized LOC105371438 Neighboring gene MINDY lysine 48 deubiquitinase 1 Neighboring gene prune exopolyphosphatase 1 Neighboring gene RNA, U6 small nuclear 884, pseudogene

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

Phenotypes

Associated conditions

Description Tests
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
GeneReviews: Not available
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
GeneReviews: Not available
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.
GeneReviews: Not available
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylcholine receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylserine binding IDA
Inferred from Direct Assay
more info
PubMed 
phospholipase A2 inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protease binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
virion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission, cholinergic IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapse IEA
Inferred from Electronic Annotation
more info
 
vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
annexin A9
Names
annexin 31
annexin XXXI
annexin-9
pemphaxin

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_003568.3NP_003559.2  annexin A9

    See identical proteins and their annotated locations for NP_003559.2

    Status: VALIDATED

    Source sequence(s)
    AJ009985, BC005830, BJ993162
    Consensus CDS
    CCDS975.2
    UniProtKB/Swiss-Prot
    O76027
    Related
    ENSP00000357943.4, ENST00000368947.9
    Conserved Domains (1) summary
    pfam00191
    Location:117182
    Annexin; Annexin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    150982286..150996063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510058.3XP_011508360.1  annexin A9 isoform X1

    Conserved Domains (1) summary
    pfam00191
    Location:117182
    Annexin; Annexin
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