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

    Gene ID: 728113, updated on 3-Nov-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
    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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    See ANXA8L1 in Genome Data Viewer
    Location:
    10q11.22
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (46375776..46391778)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (47261818..47277820)
    RS_2024_09 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 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. TaqI polymorphisms at the annexin VIII locus (ANX8). Chambers JA, et al. Hum Mol Genet, 1992 Oct. PMID 1364010
    3. Differential tissue expression of Annexin VIII in human. Reutelingsperger CP, et al. FEBS Lett, 1994 Jul 25. PMID 8045287
    4. Annexins: from structure to function. Gerke V, et al. Physiol Rev, 2002 Apr. PMID 11917092
    5. Annexins: linking Ca2+ signalling to membrane dynamics. Gerke V, et al. Nat Rev Mol Cell Biol, 2005 Jun. PMID 15928709

    See all (25) 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)

    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
    		  
    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_2024_08

    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

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials