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ANXA13 annexin A13 [ Homo sapiens (human) ]

Gene ID: 312, updated on 11-Apr-2024

Summary

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Official Symbol
ANXA13provided by HGNC
Official Full Name
annexin A13provided by HGNC
Primary source
HGNC:HGNC:536
See related
Ensembl:ENSG00000104537 MIM:602573; AllianceGenome:HGNC:536
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
ISA; ANX13
Summary
This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Biased expression in duodenum (RPKM 128.9), small intestine (RPKM 99.0) and 3 other tissues See more
Orthologs
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Genomic context

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Location:
8q24.13
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123680794..123737393, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124813022..124869625, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124693034..124749633, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375738 Neighboring gene kelch like family member 38 Neighboring gene uncharacterized LOC105375739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19506 Neighboring gene family with sequence similarity 91 member A1 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:124863791-124863939 Neighboring gene uncharacterized LOC124902014 Neighboring gene fer-1 like family member 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Intracellular Transport of Ribosome-Inactivating Proteins Depends on Annexin 13. Maltseva DV, et al. Dokl Biochem Biophys, 2020 Sep. PMID 33119820
  2. Annexin A13 promotes tumor cell invasion in vitro and is associated with metastasis in human colorectal cancer. Jiang G, et al. Oncotarget, 2017 Mar 28. PMID 28423508, Free PMC Article
  3. Identification of annexin A13 as a regulator of chemotherapy resistance using random homozygous gene perturbation. Reiske H, et al. Anal Quant Cytol Histol, 2010 Apr. PMID 20701074
  4. An alternative N-terminal fold of the intestine-specific annexin A13a induces dimerization and regulates membrane-binding. McCulloch KM, et al. J Biol Chem, 2019 Mar 8. PMID 30610115, Free PMC Article
  5. Structural and lipid-binding characterization of human annexin A13a reveals strong differences with its long A13b isoform. Fernández-Lizarbe S, et al. Biol Chem, 2017 Mar. PMID 27676605

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Intracellular Transport of Ribosome-Inactivating Proteins Depends on Annexin 13.
    Title: Intracellular Transport of Ribosome-Inactivating Proteins Depends on Annexin 13.
  2. a mechanism for how the association of the ANX A13a isoform with the membrane is regulated
    Title: An alternative N-terminal fold of the intestine-specific annexin A13a induces dimerization and regulates membrane-binding.
  3. ANXA13 is associated with colorectal cancer cell invasion in vitro, and with lymph node metastasis and poor survival in colorectal cancer patients
    Title: Annexin A13 promotes tumor cell invasion in vitro and is associated with metastasis in human colorectal cancer.
  4. High ANXA13 expression is associated with Refractory Lupus Nephritis.
    Title: Biomarkers for Refractory Lupus Nephritis: A Microarray Study of Kidney Tissue.
  5. Ectopic overexpression of Annexin A13 was likewise sufficient to sensitize malignant breast cancer cells to treatment with Rapamycin.
    Title: Identification of annexin A13 as a regulator of chemotherapy resistance using random homozygous gene perturbation.
  6. The unique, conserved aspects of annexin A13 primary structure, gene organization, and genetic maps identify it as the probable common ancestor of all vertebrate annexins.
    Title: Comparative genetics and evolution of annexin A13 as the founder gene of vertebrate annexins.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
EBI GWAS Catalog
Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC150460

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium-dependent phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylglycerol binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylserine binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell differentiation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular space HDA PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
annexin A13
Names
annexin XIII
annexin, intestine-specific
annexin-13
intestine-specific annexin

NCBI Reference Sequences (RefSeq)

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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_001003954.3 → NP_001003954.1  annexin A13 isoform b

    See identical proteins and their annotated locations for NP_001003954.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional segment in the coding region, compared to variant 1. The resulting isoform (b) is longer, compared to isoform a.
    Source sequence(s)
    AC011134, AC135166
    Consensus CDS
    CCDS34939.1
    UniProtKB/TrEMBL
    A8K2L6
    Related
    ENSP00000262219.6, ENST00000262219.10
    Conserved Domains (1) summary
    pfam00191
    Location:290 → 355
    Annexin; Annexin

  2. NM_004306.4 → NP_004297.2  annexin A13 isoform a

    See identical proteins and their annotated locations for NP_004297.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript, and encodes the shorter isoform (a).
    Source sequence(s)
    AC011134, AC135166
    Consensus CDS
    CCDS47917.1
    UniProtKB/Swiss-Prot
    P27216, Q9BQR5
    UniProtKB/TrEMBL
    Q53FB5
    Related
    ENSP00000390809.1, ENST00000419625.6
    Conserved Domains (1) summary
    pfam00191
    Location:249 → 314
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    123680794..123737393 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    124813022..124869625 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P27216.3 GenPept UniProtKB/Swiss-Prot:P27216

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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