FHAD1: Forkhead-Associated Domain Containing 1
A gene encoding a protein with a forkhead-associated (FHA) domain, involved in phosphoprotein recognition and cellular signaling.
Gene Information Card
| Symbol | FHAD1 |
|---|---|
| Full Name | Forkhead-Associated Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 114827 ncbi.nlm.nih.gov/gene/114827 |
| Ensembl ID | ENSG00000142676 |
| UniProt ID | Q8N7P1 |
| OMIM ID | 617826 |
| HGNC ID | 23336 |
| Aliases | MGC131914, FLJ22662 |
Description
FHAD1 (Forkhead-Associated Domain Containing 1) is a protein-coding gene located on chromosome 1p36.13. The encoded protein contains a forkhead-associated (FHA) domain, which is a phosphopeptide recognition module that binds to phosphothreonine residues. FHA domains are typically involved in mediating protein-protein interactions in signaling pathways, particularly those related to DNA repair, cell cycle control, and transcriptional regulation. FHAD1 is expressed in multiple tissues and may play a role in cellular signaling processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No direct evidence from ClinVar or OMIM as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 4.1 | Low |
| Lung | 3.5 | Low |
| Liver | 2.8 | Low |
| Kidney | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.1 | Embryonic kidney cells |
| K562 | 4.3 | Leukemia cell line |
| HeLa | 3.9 | Cervical cancer cells |
| HepG2 | 2.7 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• No specific pathway annotations in Reactome or KEGG for FHAD1.
Protein Summary
The FHAD1 protein (UniProt Q8N7P1) is 1,014 amino acids long and contains a single forkhead-associated (FHA) domain. FHA domains are known to bind phosphothreonine motifs, suggesting FHAD1 may function as a phosphoprotein adaptor in signaling complexes. The protein is localized to both the nucleus and cytoplasm, and its expression is highest in testis. The precise biological function of FHAD1 remains under investigation, but it is likely involved in phosphorylation-dependent protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FHAD1 Knockout HEK293 Cell Line | EDJ-KQ7477 | Human | 114827 | Details Get a Quote |
| FHAD1 Knockout A-549 Cell Line | EDJ-KQ32704 | Human | 114827 | Details Get a Quote |
| FHAD1 Knockout HCT 116 Cell Line | EDJ-KQ32705 | Human | 114827 | Details Get a Quote |
| FHAD1 Knockout HeLa Cell Line | EDJ-KQ57938 | Human | 114827 | Details Get a Quote |
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