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    F8A1 coagulation factor VIII associated 1 [ Homo sapiens (human) ]

    Gene ID: 8263, updated on 5-Mar-2024

    Summary

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    Official Symbol
    F8A1provided by HGNC
    Official Full Name
    coagulation factor VIII associated 1provided by HGNC
    Primary source
    HGNC:HGNC:3547
    See related
    Ensembl:ENSG00000288722 MIM:305423; AllianceGenome:HGNC:3547
    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
    F8A; HAP40; DXS522E
    Summary
    This gene is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is transcribed in the direction opposite of factor VIII. A portion of intron 22 (int22h), containing F8A, is repeated twice extragenically closer to the Xq telomere. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008]
    Orthologs
    all
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    Genomic context

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    Location:
    Xq28
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154886355..154888061)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153122763..153124469)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154114630..154116336)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30071 Neighboring gene small integral membrane protein 9 Neighboring gene coagulation factor VIII Neighboring gene int22h-1 recombination region Neighboring gene microRNA 1184-1 Neighboring gene H2A.B variant histone 1 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 31 Neighboring gene ZNF622 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Molecular orientation of factor VIIIa on the phospholipid membrane surface determined by fluorescence resonance energy transfer. Wakabayashi H, et al. Biochem J, 2013 Jun 1. PMID 23521092, Free PMC Article
    2. Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease. Seefelder M, et al. J Huntingtons Dis, 2022. PMID 35871360, Free PMC Article
    3. HAP40 protein levels are huntingtin-dependent and decrease in Huntington disease. Huang B, et al. Neurobiol Dis, 2021 Oct. PMID 34390835
    4. Pathological polyQ expansion does not alter the conformation of the Huntingtin-HAP40 complex. Huang B, et al. Structure, 2021 Aug 5. PMID 33909994
    5. Identification of residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIa. Wakabayashi H, et al. J Biol Chem, 2008 Apr 25. PMID 18299331, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease.
      Title: Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease.
    2. HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington's disease pathogenesis.
      Title: HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington's disease pathogenesis.
    3. HAP40 protein levels are huntingtin-dependent and decrease in Huntington disease.
      Title: HAP40 protein levels are huntingtin-dependent and decrease in Huntington disease.
    4. Pathological polyQ expansion does not alter the conformation of the Huntingtin-HAP40 complex.
      Title: Pathological polyQ expansion does not alter the conformation of the Huntingtin-HAP40 complex.
    5. Orientations for FVIIIa are identified that bind to the membrane surface and support a new interaction between the A3 domain and the membrane, probably mediated in part by Arg(1719) and Arg(1721)
      Title: Molecular orientation of factor VIIIa on the phospholipid membrane surface determined by fluorescence resonance energy transfer.
    6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    8. Protein S enhances the tissue factor pathway inhibitor inhibition of factor Xa but not its inhibition of factor VIIa-tissue factor
      Title: Protein S enhances the tissue factor pathway inhibitor inhibition of factor Xa but not its inhibition of factor VIIa-tissue factor.
    9. analysis of the residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIa
      Title: Identification of residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIa.
    10. The mutation Arg489Ala/Arg490Ala/Lys493Ala (489-3A) possessed near-normal affinity for FIXa and showed no effect on the Km for Factor X.
      Title: Clustered basic residues within segment 484-510 of the factor VIIIa A2 subunit contribute to the catalytic efficiency for factor Xa generation.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle cytoskeletal trafficking IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle cytoskeletal trafficking ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    40-kDa huntingtin-associated protein
    Names
    coagulation factor VIII-associated (intronic transcript) 1
    cpG island protein
    factor VIII associated protein
    factor VIII intron 22 protein
    huntingtin-associated protein 40

    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_012151.4 → NP_036283.2  40-kDa huntingtin-associated protein

      See identical proteins and their annotated locations for NP_036283.2

      Status: REVIEWED

      Source sequence(s)
      BX842559
      Consensus CDS
      CCDS35459.1
      UniProtKB/Swiss-Prot
      P23610, Q5HY66, Q8IXP3
      Related
      ENSP00000479624.1, ENST00000610495.2

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      154886355..154888061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      153122763..153124469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23610.2 GenPept UniProtKB/Swiss-Prot:P23610

    Gene LinkOut

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