FHIP1B
FHF complex subunit HOOK interacting protein 1B
Gene Information Card
| Symbol | FHIP1B |
|---|---|
| Full Name | FHF complex subunit HOOK interacting protein 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | Q5T0J0 |
| OMIM ID | 620196 |
| HGNC ID | HGNC:37210 |
| Aliases | FHIP1B, C11orf73, HOOKIP1B |
Description
FHIP1B encodes a component of the FHF (FTS/Hook/FHIP) complex, which is involved in vesicle trafficking and centrosome function. The protein interacts with HOOK proteins and FTS to regulate microtubule-dependent transport. FHIP1B is conserved across eukaryotes and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.4 | Low expression |
| K562 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
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)
| • microtubule cytoskeleton organization | • vesicle-mediated transport |
| • protein-containing complex binding |
Pathways
• FHF complex pathway
• Microtubule-dependent transport
Protein Summary
FHIP1B is a 244-amino acid protein that localizes to the cytoplasm and centrosome. It is a subunit of the FHF complex, which links Hook proteins to FTS to facilitate vesicle trafficking along microtubules. The protein contains a coiled-coil domain and is ubiquitously expressed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FHIP1B Knockout HEK293 Cell Line | EDJ-KQ13480 | Human | 84067 | Details Get a Quote |
| FHIP1B Knockout A-549 Cell Line | EDJ-KQ43073 | Human | 84067 | Details Get a Quote |
| FHIP1B Knockout HCT 116 Cell Line | EDJ-KQ43074 | Human | 84067 | Details Get a Quote |
| FHIP1B Knockout HeLa Cell Line | EDJ-KQ43075 | Human | 84067 | Details Get a Quote |
