CCDC91: Coiled-Coil Domain Containing 91
A gene encoding a protein involved in intracellular trafficking and potential roles in cancer and developmental disorders.
Gene Information Card
| Symbol | CCDC91 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 91 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 55297 ncbi.nlm.nih.gov/gene/55297 |
| Ensembl ID | ENSG00000111276 |
| UniProt ID | Q96A33 |
| OMIM ID | 615636 |
| HGNC ID | 25556 |
| Aliases | GCC185, GRIP and coiled-coil domain-containing protein 2 |
Description
CCDC91 encodes a coiled-coil domain-containing protein that localizes to the trans-Golgi network and is involved in endosome-to-Golgi trafficking. It interacts with the GRIP domain of golgins and is essential for maintaining Golgi structure and function. The gene is broadly expressed and has been implicated in cancer and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may disrupt trafficking of growth factor receptors, promoting oncogenic signaling. | COSMIC; literature |
| Joubert syndrome (candidate) | CCDC91 variants may impair ciliary trafficking, leading to ciliopathy phenotypes. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cell line |
| A549 | 6.3 | Lung cancer cell line |
| MCF7 | 5.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.1% | Unknown; reported in COSMIC |
| c.1543G>A (p.Gly515Ser) | Missense | <0.1% | Unknown; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus (GO:0005794) | • retrograde vesicle-mediated transport (GO:0006890) |
| • protein binding (GO:0005515) | • membrane (GO:0016020) |
Pathways
• Endosome-to-Golgi trafficking
• Golgi organization and biogenesis
Protein Summary
The CCDC91 protein (also known as GCC185) is a 185 kDa coiled-coil protein that anchors at the trans-Golgi network via its GRIP domain. It acts as a tethering factor for endosome-derived vesicles, facilitating retrograde transport. It is essential for Golgi ribbon formation and ciliary function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC91 Knockout HEK293 Cell Line | EDJ-KQ11888 | Human | 55297 | Details Get a Quote |
| CCDC91 Knockout A-549 Cell Line | EDJ-KQ40335 | Human | 55297 | Details Get a Quote |
| CCDC91 Knockout HCT 116 Cell Line | EDJ-KQ40336 | Human | 55297 | Details Get a Quote |
| CCDC91 Knockout HeLa Cell Line | EDJ-KQ40337 | Human | 55297 | Details Get a Quote |
