F8a1 coagulation factor VIII-associated 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: F8a1provided by RGD
Official Full Name: coagulation factor VIII-associated 1provided by RGD
Primary source: RGD:1566014
See related: Ensembl:ENSRNOG00000070033 AllianceGenome:RGD:1566014
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: F8a; Hap40; RGD1566014
Summary: Involved in vesicle cytoskeletal trafficking. Predicted to be located in cytoplasm and nuclear body. Predicted to be active in early endosome. Orthologous to several human genes including F8A3 (coagulation factor VIII associated 3). [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

Location:: Xq37

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (155977859..155979373)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (150957357..150958871, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (147021436..147022950)

Chromosome X - NC_086039.1 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?

We have identified Huntingtin (Htt)-associated protein 40 (HAP40) as a novel effector of the small guanosine triphosphatase Rab5, a key regulator of endocytosis. HAP40 mediates the recruitment of Htt by Rab5 onto early endosomes.
Title: Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease.

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General gene information

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Markers

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

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

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

Gene Ontology Provided by RGD

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	ISO Inferred from Sequence Orthology more info
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	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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	ISS Inferred from Sequence or Structural Similarity more info
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: coagulation factor VIII-associated (intronic transcript) 1; factor 8-associated gene A; 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.