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F8A3 coagulation factor VIII associated 3 [ Homo sapiens (human) ]

Gene ID: 474384, updated on 13-May-2022

Summary

Official Symbol
F8A3provided by HGNC
Official Full Name
coagulation factor VIII associated 3provided by HGNC
Primary source
HGNC:HGNC:31850
See related
Ensembl:ENSG00000277150 AllianceGenome:HGNC:31850
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
HAP40
Summary
This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. 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
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Genomic context

See F8A3 in Genome Data Viewer
Location:
Xq28
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (155456914..155458620, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153694962..153696668, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154686575..154688281, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene int22h-2 recombination region Neighboring gene microRNA 1184-2 Neighboring gene H2A.B variant histone 2 Neighboring gene coagulation factor VIII associated 2 Neighboring gene int22h-3 recombination region Neighboring gene microRNA 1184-3 Neighboring gene TMLHE antisense RNA 1 Neighboring gene H2A.B variant histone 3 Neighboring gene trimethyllysine hydroxylase, epsilon

Genomic regions, transcripts, and products

General gene information

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
PubMed 
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
PubMed 
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

Preferred Names
40-kDa huntingtin-associated protein
Names
coagulation factor VIII-associated (intronic transcript) 3
cpG island protein
factor VIII intron 22 protein

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_001007524.2NP_001007525.1  40-kDa huntingtin-associated protein

    See identical proteins and their annotated locations for NP_001007525.1

    Status: VALIDATED

    Source sequence(s)
    BX571846
    Consensus CDS
    CCDS35463.1
    UniProtKB/Swiss-Prot
    P23610
    Related
    ENSP00000477530.2, ENST00000622749.2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    155456914..155458620 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    153694962..153696668 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)