HHIPL1 Gene
HHIP Like 1
Gene Information Card
| Symbol | HHIPL1 |
|---|---|
| Full Name | HHIP Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.2 |
| NCBI Gene ID | 84439 ncbi.nlm.nih.gov/gene/84439 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q96F06 |
| OMIM ID | 614121 |
| HGNC ID | 18587 |
| Aliases | KIAA1822, MGC131831 |
Description
HHIPL1 (HHIP Like 1) is a protein-coding gene located on chromosome 14q32.2. It encodes a protein that is structurally similar to HHIP (Hedgehog interacting protein) and is involved in ciliary function. The gene is expressed in multiple tissues, with highest levels in the testis and brain. Mutations in HHIPL1 have been associated with primary ciliary dyskinesia and other ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia | Loss-of-function mutations impair ciliary motility | ClinVar, OMIM |
| Ciliopathy-related disorders | Disruption of ciliary protein function | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 5.1 | Low |
| Heart | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.8 | Moderate expression |
| HeLa | 4.2 | Low expression |
| K562 | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of ciliary 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)
| • ciliary membrane | • hedgehog receptor activity |
| • protein binding |
Pathways
• Hedgehog signaling pathway
• Ciliary assembly
Protein Summary
HHIPL1 is a 748-amino acid protein that localizes to cilia and is involved in hedgehog signaling. It contains a conserved HHIP domain and is essential for normal ciliary function. The protein is predicted to be a membrane-associated receptor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HHIPL1 Knockout HEK293 Cell Line | EDJ-KQ10093 | Human | 84439 | Details Get a Quote |
| HHIPL1 Knockout HeLa Cell Line | EDJ-KQ57594 | Human | 84439 | Details Get a Quote |
| HHIPL1 Knockout A-549 Cell Line | EDJ-KQ66091 | Human | 84439 | Details Get a Quote |
| HHIPL1 Knockout HCT 116 Cell Line | EDJ-KQ74514 | Human | 84439 | Details Get a Quote |
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