F8a factor 8-associated gene A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: F8aprovided by MGI
Official Full Name: factor 8-associated gene Aprovided by MGI
Primary source: MGI:MGI:95474
See related: Ensembl:ENSMUSG00000078317 AllianceGenome:MGI:95474
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: F8a1; DXUcsf1
Summary: Predicted to be involved in negative regulation of proteasomal protein catabolic process and vesicle cytoskeletal trafficking. Located in cytoplasm and nuclear body. Is expressed in several structures, including gut; liver lobe; lower urinary tract; pharyngo-tympanic tube; and submandibular gland primordium. Orthologous to human F8A1 (coagulation factor VIII associated 1); F8A2 (coagulation factor VIII associated 2); and F8A3 (coagulation factor VIII associated 3). [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

Location:: X A7.3; X 37.29 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (72271912..72274401)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (73228306..73230795)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HAP40 modulates mutant Huntingtin aggregation and toxicity in Huntington's disease mice.
Title: HAP40 modulates mutant Huntingtin aggregation and toxicity in Huntington's disease mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

M83118 (e-PCR)
- UniSTS:181296

AI852759 (e-PCR)
- UniSTS:181297

F8a (e-PCR), detects polymorphism
- UniSTS:243262

UniSTS:496784 (e-PCR)
- UniSTS:496784

F8a (e-PCR), detects polymorphism
- UniSTS:496784

Gene Ontology Provided by MGI

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	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle cytoskeletal trafficking	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle cytoskeletal trafficking	ISO Inferred from Sequence Orthology more info
involved_in vesicle cytoskeletal trafficking	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear body	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: 40-kDa huntingtin-associated protein

Names: Factor VIII associated protein; 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.