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ANXA8 annexin A8 [ Homo sapiens (human) ]

Gene ID: 653145, updated on 17-Jun-2019

Summary

Official Symbol
ANXA8provided by HGNC
Official Full Name
annexin A8provided by HGNC
Primary source
HGNC:HGNC:546
See related
Ensembl:ENSG00000265190 MIM:602396
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
ANX8; CH17-360D5.2
Summary
This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008]
Annotation information
Note: There are multiple copies of ANXA8-like sequences on human chromosome 10q11. In June, 2007, the locations were re-named to correspond to the order defined by the Human Gene Nomenclature Committee (HGNC). [22 Jun 2007]
Expression
Biased expression in skin (RPKM 96.8), esophagus (RPKM 57.8) and 3 other tissues See more
Orthologs

Genomic context

See ANXA8 in Genome Data Viewer
Location:
10q11.22
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (47467993..47991879, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (48255204..48271369)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107001062 Neighboring gene uncharacterized LOC105378292 Neighboring gene zinc finger protein 488 Neighboring gene BMS1P2-AGAP9 readthrough Neighboring gene uncharacterized LOC107987147 Neighboring gene family with sequence similarity 25 member G Neighboring gene RNA, 5S ribosomal pseudogene 312 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 Neighboring gene BMS1 pseudogene 2 Neighboring gene glutamate dehydrogenase 1 pseudogene 6 Neighboring gene dual specificity phosphatase 8 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2675 Neighboring gene cathepsin L pseudogene 2 Neighboring gene Ras homolog, mTORC1 binding pseudogene Neighboring gene uncharacterized LOC102724603 Neighboring gene RNA, 7SL, cytoplasmic 453, pseudogene Neighboring gene shieldin complex subunit 2 pseudogene 3 Neighboring gene uncharacterized LOC102724593 Neighboring gene synaptotagmin-15 Neighboring gene Sharpr-MPRA regulatory regions 2784 and 8617 duplicate 2 Neighboring gene neuropeptide Y receptor Y4-2 Neighboring gene family with sequence similarity 25 member C Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 12, 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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ53095, FLJ58992

Gene Ontology Provided by GOA

Process Evidence Code Pubs
blood coagulation IEA
Inferred from Electronic Annotation
more info
 
endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosomal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of phospholipase A2 activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of phospholipase A2 activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
annexin A8
Names
VAC-beta
annexin VIII
annexin-8
vascular anticoagulant-beta

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_001040084.3NP_001035173.1  annexin A8 isoform 2

    See identical proteins and their annotated locations for NP_001035173.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1. An in-frame AUG is located 66 codons upstream of the annotated translation start site but was not annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
    Source sequence(s)
    BC004376, DC339657, DR980366
    Consensus CDS
    CCDS73122.1
    UniProtKB/Swiss-Prot
    P13928
    Related
    ENSP00000462880.1, ENST00000585281.5
    Conserved Domains (1) summary
    pfam00191
    Location:2690
    Annexin; Annexin
  2. NM_001271702.1NP_001258631.1  annexin A8 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). An in-frame AUG is located 66 codons upstream of the annotated translation start site but was not annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
    Source sequence(s)
    AK300139, AL591684, BC073755, DC339657
    Consensus CDS
    CCDS73123.1
    UniProtKB/Swiss-Prot
    P13928
    UniProtKB/TrEMBL
    A0A087WTN9, B4DTB3
    Related
    ENSP00000478026.1, ENST00000611843.4
    Conserved Domains (2) summary
    smart00335
    Location:76128
    ANX; Annexin repeats
    pfam00191
    Location:135200
    Annexin; Annexin
  3. NM_001271703.1NP_001258632.1  annexin A8 isoform 3

    See identical proteins and their annotated locations for NP_001258632.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks exons in the 5' coding region compared to variant 1. It encodes isoform 3, which is shorter when compared to isoform 1. An in-frame AUG is located 66 codons upstream of the annotated translation start site but was not annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
    Source sequence(s)
    AK296573, AL591684, BC073755, DC339657
    Consensus CDS
    CCDS73121.1
    UniProtKB/Swiss-Prot
    P13928
    Related
    ENSP00000463091.1, ENST00000583911.5
    Conserved Domains (2) summary
    pfam00191
    Location:35100
    Annexin; Annexin
    cl02574
    Location:828
    Annexin; Annexin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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
    47467993..47991879 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717951.3XP_006718014.1  annexin A8 isoform X4

    Conserved Domains (1) summary
    pfam00191
    Location:50114
    Annexin; Annexin
  2. XM_011540098.1XP_011538400.1  annexin A8 isoform X2

    Conserved Domains (1) summary
    pfam00191
    Location:147211
    Annexin; Annexin
  3. XM_011540096.1XP_011538398.1  annexin A8 isoform X1

    Conserved Domains (1) summary
    pfam00191
    Location:147211
    Annexin; Annexin
  4. XM_011540099.1XP_011538401.1  annexin A8 isoform X3

    Conserved Domains (1) summary
    pfam00191
    Location:147211
    Annexin; Annexin
  5. XM_011540101.2XP_011538403.1  annexin A8 isoform X5

    Conserved Domains (1) summary
    pfam00191
    Location:147211
    Annexin; Annexin

RNA

  1. XR_428714.3 RNA Sequence

  2. XR_945805.1 RNA Sequence

  3. XR_002957008.1 RNA Sequence

  4. XR_246202.2 RNA Sequence

  5. XR_945804.1 RNA Sequence

  6. XR_945806.3 RNA Sequence

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