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

    Gene ID: 728113, updated on 2-Oct-2018

    Summary

    Official Symbol
    ANXA8L1provided by HGNC
    Official Full Name
    annexin A8 like 1provided by HGNC
    Primary source
    HGNC:HGNC:23334
    See related
    Ensembl:ENSG00000264230 Vega:OTTHUMG00000018131
    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 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (46375590..46391784)
    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 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4-like Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 14, pseudogene Neighboring gene protein FAM25 Neighboring gene uncharacterized LOC107987152 Neighboring gene long intergenic non-protein coding RNA 842 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 Jun 15 11:32:44 2016

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat'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
    actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium-dependent phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol-3,4,5-trisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol-3,4-bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol-4,5-bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     

    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_001098845.2NP_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, DC381265
      Consensus CDS
      CCDS73098.1
      UniProtKB/Swiss-Prot
      P13928, Q5VT79
      Related
      ENSP00000480221.1, OTTHUMP00000276271, ENST00000619162.4, OTTHUMT00000476885
      Conserved Domains (1) summary
      pfam00191
      Location:2690
      Annexin; Annexin
    2. NM_001278923.1NP_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, DC381265
      Consensus CDS
      CCDS73099.1
      UniProtKB/TrEMBL
      B4DTF2
      Related
      ENSP00000484310.1, OTTHUMP00000276272, ENST00000611655.1, OTTHUMT00000476886
      Conserved Domains (1) summary
      pfam00191
      Location:2690
      Annexin; Annexin
    3. NM_001278924.1NP_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, OTTHUMP00000276270, ENST00000622769.4, OTTHUMT00000476884
      Conserved Domains (2) summary
      smart00335
      Location:76128
      ANX; Annexin repeats
      pfam00191
      Location:206271
      Annexin; Annexin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      46375590..46391784
      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.
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