CIBAR1
CBY1 Interactor, BAR Domain Containing 1
Gene Information Card
| Symbol | CIBAR1 |
|---|---|
| Full Name | CBY1 Interactor, BAR Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 100505746 ncbi.nlm.nih.gov/gene/100505746 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q8N4S1 |
| OMIM ID | 617157 |
| HGNC ID | 26863 |
| Aliases | FAM92A1, FAM92A, C1orf86 |
Description
CIBAR1 (CBY1 Interactor, BAR Domain Containing 1) is a protein-coding gene located on chromosome 1q25.3. It encodes a BAR domain-containing protein that interacts with CBY1 and is involved in ciliogenesis and membrane curvature. The gene is conserved in vertebrates and expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | Disrupted ciliogenesis due to CIBAR1 dysfunction | PMID: 26077851 |
| Nephronophthisis | Impaired primary cilium formation | PMID: 26077851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Kidney | 7.1 | Low |
| Lung | 5.3 | Low |
| Liver | 3.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 6.8 | Low expression |
| K562 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | <0.01% | Loss of function |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg113* leads to premature truncation and loss of BAR domain function.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly | • membrane curvature |
| • protein binding | • BAR domain |
Pathways
• Ciliogenesis
• Hedgehog signaling
Protein Summary
CIBAR1 encodes a BAR domain-containing protein that localizes to the base of cilia and interacts with CBY1. It is essential for proper ciliary membrane formation and function. The protein is 292 amino acids long and contains a conserved BAR domain that mediates membrane binding and curvature.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIBAR1 Knockout HEK293 Cell Line | EDJ-KQ9391 | Human | 137392 | Details Get a Quote |
| CIBAR1 Knockout HCT 116 Cell Line | EDJ-KQ36039 | Human | 137392 | Details Get a Quote |
| CIBAR1 Knockout HeLa Cell Line | EDJ-KQ36040 | Human | 137392 | Details Get a Quote |
| CIBAR1 Knockout A-549 Cell Line | EDJ-KQ34790 | Human | 137392 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
