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F8A1 - coagulation factor VIII associated 1 Gene

Also Known as F8A; HAP40; DXS522E

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8263

About F8A1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,886,355-154,888,061 (from NCBI)

This gene has 1 transcript (splice variant), 181 orthologues and 2 paralogues.

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]

F8A1 Products (1)

mRNA	Protein	Name
NM_012151.4	NP_036283.2	40-kDa huntingtin-associated protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29466333	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of proteasomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	27815841	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in early endosome	IDA IDA: Inferred from direct assay	16476778	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
40-kDa huntingtin-associated protein	coagulation factor VIII-associated (intronic transcript) 1

Related Diseases

Diseases	Alias
Hemophilia A	Factor Viii Deficiency Haemophilia A Mild Hemophilia A HEMA Hemophilia, Classic Classic Hemophilia Factor 8 Deficiency Severe Hemophilia A Classical Hemophilia Hem A Hemophilia A, Congenital Mild Congenital F8 Deficiency Mild Congenital Factor Viii Deficiency Severe Congenital F8 Deficiency Severe Congenital Factor Viii Deficiency Moderate Hemophilia A Moderate Congenital F8 Deficiency Moderate Congenital Factor Viii Deficiency Bleeding Disorder In Hemophilia A Carriers Congenital F8 Deficiency Congenital Fviii Deficiency Congenital Factor Viii Deficiency Mild Hereditary Factor Viii Deficiency Disease Severe Hereditary Factor Viii Deficiency Disease Ahg - [Antihaemophilic Globulin] Deficiency Ahg - [Antihaemophilic Globulin] Deficiency Disease Congenital Factor Viii Disorder Sex-Linked Factor Viii Deficiency Antihaemophilic Globulin Deficiency Classic Haemophilia Familial Haemophilia Haemophilia Hereditary Haemophilia Subhaemophilia Haemophilia Nos
Factor Viii Deficiency	Autosomal Hemophilia A Hemophilia A Autosomal Factor Viii Deficiency Classic Hemophilia A Congenital Factor Viii Disorder Subhemophilia Factor 8 Deficiency, Congenital Factor Viii
X-Linked Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus Type 1 Doid:0081060

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04647	F8A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	F8A1	MGD	MGI:95474
Rattus norvegicus	F8A1	RGD	RGD:1566014