Format

Send to:

Choose Destination

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

Gene ID: 728113, updated on 24-Nov-2020

Summary

Official Symbol
ANXA8L1provided by HGNC
Official Full Name
annexin A8 like 1provided by HGNC
Primary source
HGNC:HGNC:23334
See related
Ensembl:ENSG00000264230
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

Genomic context

See ANXA8L1 in Genome Data Viewer
Location:
10q11.22
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (46375776..46391778)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (47157983..47174180, 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 long intergenic non-protein coding RNA 842 Neighboring gene uncharacterized LOC107987152 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 33

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

Related articles in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent phospholipid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of phospholipase A2 activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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_001098845.3NP_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
    P13928, Q5VT79
    Related
    ENSP00000480221.1, ENST00000619162.5
    Conserved Domains (1) summary
    pfam00191
    Location:2690
    Annexin; Annexin
  2. NM_001278923.2NP_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
    B4DTF2
    Related
    ENSP00000484310.1, ENST00000611655.1
    Conserved Domains (1) summary
    pfam00191
    Location:2690
    Annexin; Annexin
  3. NM_001278924.2NP_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/Swiss-Prot
    Q5VT79
    Related
    ENSP00000483608.1, ENST00000622769.4
    Conserved Domains (2) summary
    smart00335
    Location:76128
    ANX; Annexin repeats
    pfam00191
    Location:206271
    Annexin; Annexin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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
    46375776..46391778
    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.
Support Center