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ANXA8L1 annexin A8 like 1 [ Homo sapiens (human) ]

Gene ID: 728113, updated on 11-Apr-2024

Summary

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Official Symbol
ANXA8L1provided by HGNC
Official Full Name
annexin A8 like 1provided by HGNC
Primary source
HGNC:HGNC:23334
See related
Ensembl:ENSG00000264230 AllianceGenome:HGNC:23334
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
ANXA8; ANXA8L2; VAC-beta; bA145E20.2
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, Apr 2014]
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). [08 Apr 2014]
Expression
Biased expression in skin (RPKM 202.2), esophagus (RPKM 129.0) and 3 other tissues See more
Orthologs
all
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Genomic context

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Location:
10q11.22
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (46375776..46391778)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (47261818..47277820)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (47157989..47173994, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 14, pseudogene Neighboring gene protein FAM25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:47752508-47753049 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:47152525-47153140 Neighboring gene long intergenic non-protein coding RNA 842 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 33 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:47124851-47125351 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:47124350-47124850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:47107598-47108554 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:47101901-47102401 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:47089605-47090205 Neighboring gene neuropeptide Y receptor Y4

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. Regulation of the expression of annexin VIII in acute promyelocytic leukemia. Sarkar A, et al. Blood, 1994 Jul 1. PMID 8018923
  2. Annexins: linking Ca2+ signalling to membrane dynamics. Gerke V, et al. Nat Rev Mol Cell Biol, 2005 Jun. PMID 15928709
  3. Annexins: from structure to function. Gerke V, et al. Physiol Rev, 2002 Apr. PMID 11917092
  4. Differential tissue expression of Annexin VIII in human. Reutelingsperger CP, et al. FEBS Lett, 1994 Jul 25. PMID 8045287
  5. TaqI polymorphisms at the annexin VIII locus (ANX8). Chambers JA, et al. Hum Mol Genet, 1992 Oct. PMID 1364010

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Claudin 18 and annexin A8 are frequently highly overexpressed in infiltrating ductal adenocarcinomas.
    Title: New markers of pancreatic cancer identified through differential gene expression analyses: claudin 18 and annexin A8.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

  • FLJ32754, FLJ39396, FLJ54151, FLJ94196, FLJ97130, KIAA0187, MGC10405

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
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
  
Process Evidence Code Pubs
involved_in endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of phospholipase A2 activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
annexin A8-like protein 1
Names
annexin A8-like protein 2
annexin A8L2
annexin VIII
annexin-8
vascular anticoagulant-beta

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_001098845.3 → NP_001092315.2  annexin A8-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001092315.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC244230, AK313626
    Consensus CDS
    CCDS73098.1
    UniProtKB/Swiss-Prot
    A0A0B4J2D4, B2R939, Q53FY2, Q5VT78, Q5VT79, Q96H89
    UniProtKB/TrEMBL
    A0A075B752
    Related
    ENSP00000480221.1, ENST00000619162.5
    Conserved Domains (1) summary
    pfam00191
    Location:26 → 90
    Annexin

  2. NM_001278923.2 → NP_001265852.1  annexin A8-like protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001265852.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC244230, AK300191
    Consensus CDS
    CCDS73099.1
    UniProtKB/TrEMBL
    A0A075B765, B4DTF2
    Related
    ENSP00000484310.1, ENST00000611655.1
    Conserved Domains (1) summary
    pfam00191
    Location:26 → 90
    Annexin; Annexin

  3. NM_001278924.2 → NP_001265853.1  annexin A8-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001265853.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks three alternate exons and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC244230
    Consensus CDS
    CCDS73097.1
    UniProtKB/TrEMBL
    A0A075B765
    Related
    ENSP00000483608.1, ENST00000622769.4
    Conserved Domains (2) summary
    smart00335
    Location:76 → 128
    ANX; Annexin repeats
    pfam00191
    Location:206 → 271
    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    46375776..46391778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    47261818..47277820
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001039801.1: Suppressed sequence

    Description
    NM_001039801.1: This RefSeq was permanently suppressed because currently there is marginal support for the transcript but not for the protein.

  2. NM_001630.2: Suppressed sequence

    Description
    NM_001630.2: This RefSeq was permanently suppressed because it is a redundant RefSeq for this annexin family member.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VT79.2 GenPept UniProtKB/Swiss-Prot:Q5VT79

Gene LinkOut

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Chemical Information
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Research Materials
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