FHIP1A
FHF complex subunit HOOK interacting protein 1A
Gene Information Card
| Symbol | FHIP1A |
|---|---|
| Full Name | FHF complex subunit HOOK interacting protein 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A0A1B0GTV4 |
| OMIM ID | 620315 |
| HGNC ID | HGNC:44238 |
| Aliases | FHIP, FHIP1, C4orf26, HOOKIP1A |
Description
FHIP1A encodes a subunit of the FHF (FTS/Hook/FHIP) complex, which is involved in vesicle trafficking and cargo transport along microtubules. The protein interacts with HOOK proteins and FTS to facilitate endosomal and lysosomal trafficking. FHIP1A is expressed in multiple tissues and has been implicated in ciliopathies and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and brain anomalies | Loss-of-function mutations in FHIP1A disrupt FHF complex assembly, impairing vesicle trafficking and neuronal development | ClinVar, OMIM |
| Joubert syndrome 38 | Biallelic variants in FHIP1A cause ciliary dysfunction via defective trafficking to the primary cilium | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Kidney | 6.7 | Low |
| Lung | 5.1 | Low |
| Liver | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.3 | Cervical cancer cells |
| SH-SY5Y | 6.1 | Neuroblastoma cells |
| HepG2 | 4.5 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | nonsense | Rare | Premature stop, loss of function |
| c.502_503del (p.Leu168Glufs*12) | frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants lead to truncated or absent protein, impairing FHF complex function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • protein-containing complex binding |
| • vesicle-mediated transport | • endosomal transport |
| • ciliary transport |
Pathways
• FHF complex-mediated vesicle trafficking
• Cargo transport to the cilium
Protein Summary
FHIP1A is a 305-amino acid protein that localizes to the cytoplasm and associates with microtubules. It forms a complex with FTS and HOOK proteins to mediate the transport of vesicles from endosomes to the Golgi and to the primary cilium. The protein contains a coiled-coil domain essential for protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FHIP1A Knockout HEK293 Cell Line | EDJ-KQ13479 | Human | 729830 | Details Get a Quote |
| FHIP1A Knockout HCT 116 Cell Line | EDJ-KQ43071 | Human | 729830 | Details Get a Quote |
| FHIP1A Knockout HeLa Cell Line | EDJ-KQ43072 | Human | 729830 | Details Get a Quote |
| FHIP1A Knockout A-549 Cell Line | EDJ-KQ69232 | Human | 729830 | Details Get a Quote |
