CROCC (Ciliary Rootlet Coiled-Coil Protein) Gene
Essential component of the ciliary rootlet, implicated in ciliopathies and cancer
Gene Information Card
| Symbol | CROCC |
|---|---|
| Full Name | Ciliary Rootlet Coiled-Coil Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 9696 ncbi.nlm.nih.gov/gene/9696 |
| Ensembl ID | ENSG00000158470 |
| UniProt ID | Q5TZA2 |
| OMIM ID | 615776 |
| HGNC ID | 21256 |
| Aliases | rootletin, CROCCL, FLJ14490 |
Description
CROCC encodes rootletin, a coiled-coil protein that is a major structural component of the ciliary rootlet, a cytoskeletal structure anchoring cilia to the cell body. Rootletin is essential for ciliary stability and function, and its disruption is linked to ciliopathies and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Loss of rootletin disrupts ciliary rootlet integrity, impairing mucociliary clearance | PMID: 23993196 |
| Retinitis pigmentosa | Defective ciliary rootlet in photoreceptor cells leads to progressive retinal degeneration | PMID: 23993196 |
| Cancer (various types) | Altered CROCC expression and mutations may contribute to ciliary dysfunction in tumorigenesis | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.5 | High |
| Trachea | 25.3 | High |
| Lung | 15.2 | Medium |
| Retina | 12.8 | Medium |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 20.1 | Cervical cancer cell line |
| A549 | 18.7 | Lung carcinoma cell line |
| HEK 293 | 14.3 | Embryonic kidney cells |
| HepG2 | 9.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of rootletin |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Loss of function; premature termination |
| c.2345A>G (p.Asn782Ser) | Missense | 0.2% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in CROCC lead to truncated or absent rootletin, disrupting ciliary rootlet assembly and cilia function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CROCC.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by interfering with rootletin polymerization, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • cilium (GO:0005929) |
| • ciliary rootlet (GO:0035253) | • protein binding (GO:0005515) |
| • cell projection (GO:0042995) |
Pathways
• Cilium assembly (Reactome: R-HSA-5617833)
• Ciliary rootlet organization (GO:0035082)
Protein Summary
Rootletin is a 2,000+ amino acid coiled-coil protein that forms homodimers and polymerizes into large filaments constituting the ciliary rootlet. It anchors the basal body to the cell body and maintains ciliary stability. Rootletin interacts with other ciliary proteins such as CEP250 and is essential for the structural integrity of primary and motile cilia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CROCC Knockout HEK293 Cell Line | EDJ-KQ6703 | Human | 9696 | Details Get a Quote |
| CROCC2 Knockout HEK293 Cell Line | EDJ-KQ13004 | Human | 728763 | Details Get a Quote |
| CROCC Knockout A-549 Cell Line | EDJ-KQ31060 | Human | 9696 | Details Get a Quote |
| CROCC Knockout HCT 116 Cell Line | EDJ-KQ31061 | Human | 9696 | Details Get a Quote |
| CROCC Knockout HeLa Cell Line | EDJ-KQ31062 | Human | 9696 | Details Get a Quote |
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