F8A1 Gene: Coagulation Factor VIII Associated 1
Genetic insights into F8A1, a gene associated with hemophilia A and int22h recombination events.
Gene Information Card
| Symbol | F8A1 |
|---|---|
| Full Name | coagulation factor VIII associated 1 |
| Gene Type | protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 2146 ncbi.nlm.nih.gov/gene/2146 |
| Ensembl ID | ENSG00000182318 |
| UniProt ID | P23610 |
| OMIM ID | 305830 |
| HGNC ID | 3539 |
| Aliases | F8A, HAP40 |
Description
F8A1 (coagulation factor VIII associated 1) is a protein-coding gene located on chromosome Xq28. It is known for its role in the int22h homologous recombination region, which is implicated in approximately 40-50% of severe hemophilia A cases. The gene encodes a protein of unknown function, but its genomic context is critical for chromosomal rearrangements affecting the F8 gene.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hemophilia A | Int22h-mediated inversions involving F8A1 disrupt the F8 gene, leading to factor VIII deficiency. | ClinVar, OMIM |
| Hemophilia A (severe) | Recurrent inversions between int22h repeats (including F8A1) cause disruption of F8 coding sequence. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not expressed |
| Lymph node | 0.0 | Not expressed |
| Spleen | 0.0 | Not expressed |
| Liver | 0.0 | Not expressed |
| Brain | 0.0 | Not expressed |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | No expression detected |
| K562 | 0.0 | No expression detected |
| MCF7 | 0.0 | No expression detected |
| A549 | 0.0 | No expression detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Int22h inversion | Structural variant | ~40-50% of severe hemophilia A | Disrupts F8 gene, causing factor VIII deficiency |
| g.154119966_154121000inv | Inversion | Not specified | Inversion involving F8A1 and F8 intron 22, leading to hemophilia A |
Mutation functional classification
Loss of Function (LOF)
Loss of F8A1 function is not directly associated with disease; its role is structural in genomic rearrangements.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not applicable; F8A1 is not known to act as a dominant negative.
View complete mutation data：
Gene Ontology (GO)
| • biological_process: unknown | • cellular_component: unknown |
| • molecular_function: unknown |
Pathways
• No specific pathways curated for F8A1; involved in genomic recombination events.
Protein Summary
The F8A1 gene encodes a protein of unknown function. It is part of the int22h repeat region on chromosome X, which is prone to homologous recombination, leading to inversions that cause hemophilia A. The protein has no known enzymatic or structural role in coagulation directly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| F8A1 Knockout HEK293 Cell Line | EDJ-KQ50746 | Human | 8263 | Details Get a Quote |
| F8A1 Knockout HeLa Cell Line | EDJ-KQ54840 | Human | 8263 | Details Get a Quote |
| F8A1 Knockout A-549 Cell Line | EDJ-KQ63331 | Human | 8263 | Details Get a Quote |
| F8A1 Knockout HCT 116 Cell Line | EDJ-KQ71801 | Human | 8263 | Details Get a Quote |
