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

Gene ID: 8263, updated on 21-Dec-2019

Summary

Official Symbol
F8A1provided by HGNC
Official Full Name
coagulation factor VIII associated 1provided by HGNC
Primary source
HGNC:HGNC:3547
See related
Ensembl:ENSG00000277203 MIM:305423
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

Genomic context

See F8A1 in Genome Data Viewer
Location:
Xq28
Exon count:
1
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (154886360..154888061)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154114635..154116336)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes 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 zinc finger protein 622 pseudogene

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
negative regulation of proteasomal protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
vesicle cytoskeletal trafficking ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body ISS
Inferred from Sequence or Structural Similarity
more info
 
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) 1
cpG island protein
factor VIII associated protein
factor VIII intron 22 protein
huntingtin-associated protein 40

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_012151.3NP_036283.2  40-kDa huntingtin-associated protein

    See identical proteins and their annotated locations for NP_036283.2

    Status: REVIEWED

    Source sequence(s)
    AL556125, BC039693
    Consensus CDS
    CCDS35459.1
    UniProtKB/Swiss-Prot
    P23610
    Related
    ENSP00000479624.1, ENST00000610495.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    154886360..154888061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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