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

Gene ID: 8263, updated on 14-Nov-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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See F8A1 in Genome Data Viewer
Location:
Xq28
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154886355..154888061)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153122763..153124469)
RS_2024_09 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. Evidence for a third transcript from the human factor VIII gene. Levinson B, et al. Genomics, 1992 Nov. PMID 1427887
  4. A transcribed gene in an intron of the human factor VIII gene. Levinson B, et al. Genomics, 1990 May. PMID 2110545
  5. Clustered basic residues within segment 484-510 of the factor VIIIa A2 subunit contribute to the catalytic efficiency for factor Xa generation. Jenkins PV, et al. J Thromb Haemost, 2004 Mar. PMID 15009463

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)

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 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_2024_08

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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Chemical Information
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