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ANXA9 annexin A9 [ Homo sapiens (human) ]

Gene ID: 8416, updated on 1-Mar-2024

Summary

Official Symbol
ANXA9provided by HGNC
Official Full Name
annexin A9provided by HGNC
Primary source
HGNC:HGNC:547
See related
Ensembl:ENSG00000143412 MIM:603319; AllianceGenome:HGNC:547
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
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Genomic context

See ANXA9 in Genome Data Viewer
Location:
1q21.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150977306..150995634)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150101002..150119333)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150954768..150968110)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985204 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150903234 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150907955 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150908639 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150910911 Neighboring gene SET domain bifurcated histone lysine methyltransferase 1 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150913142 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150916657 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150922512 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150937329 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150937964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150945529-150946460 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150946490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1308 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:150949461-150949964 and GRCh37_chr1:150949965-150950466 Neighboring gene uncharacterized LOC105371438 Neighboring gene ceramide synthase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150955292-150956153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150970021-150970520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150980776-150981318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150981319-150981859 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
EBI GWAS Catalog
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
EBI GWAS Catalog
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.
EBI GWAS Catalog
New loci associated with kidney function and chronic kidney disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylcholine receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphatidylserine binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synaptic transmission, cholinergic IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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_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, Q5SZF1, Q6FI55, Q9BS00, Q9HBJ6
    Related
    ENSP00000357943.4, ENST00000368947.9
    Conserved Domains (1) summary
    pfam00191
    Location:117182
    Annexin; 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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    150977306..150995634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431989.1XP_047287945.1  annexin A9 isoform X2

    UniProtKB/Swiss-Prot
    O76027, Q5SZF1, Q6FI55, Q9BS00, Q9HBJ6
  2. XM_047431991.1XP_047287947.1  annexin A9 isoform X2

    UniProtKB/Swiss-Prot
    O76027, Q5SZF1, Q6FI55, Q9BS00, Q9HBJ6
  3. XM_047431997.1XP_047287953.1  annexin A9 isoform X2

    UniProtKB/Swiss-Prot
    O76027, Q5SZF1, Q6FI55, Q9BS00, Q9HBJ6
  4. XM_047431999.1XP_047287955.1  annexin A9 isoform X3

  5. XM_047431983.1XP_047287939.1  annexin A9 isoform X1

  6. XM_047431984.1XP_047287940.1  annexin A9 isoform X1

  7. XM_047431986.1XP_047287942.1  annexin A9 isoform X2

    UniProtKB/Swiss-Prot
    O76027, Q5SZF1, Q6FI55, Q9BS00, Q9HBJ6
  8. XM_011510058.4XP_011508360.1  annexin A9 isoform X3

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    150101002..150119333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339109.1XP_054195084.1  annexin A9 isoform X2

    UniProtKB/Swiss-Prot
    O76027, Q5SZF1, Q6FI55, Q9BS00, Q9HBJ6
  2. XM_054339110.1XP_054195085.1  annexin A9 isoform X2

    UniProtKB/Swiss-Prot
    O76027, Q5SZF1, Q6FI55, Q9BS00, Q9HBJ6
  3. XM_054339111.1XP_054195086.1  annexin A9 isoform X2

    UniProtKB/Swiss-Prot
    O76027, Q5SZF1, Q6FI55, Q9BS00, Q9HBJ6
  4. XM_054339112.1XP_054195087.1  annexin A9 isoform X3

  5. XM_054339107.1XP_054195082.1  annexin A9 isoform X1

  6. XM_054339108.1XP_054195083.1  annexin A9 isoform X2

    UniProtKB/Swiss-Prot
    O76027, Q5SZF1, Q6FI55, Q9BS00, Q9HBJ6