CCZ1
CCZ1 homolog, vacuolar protein trafficking and biogenesis associated
Gene Information Card
| Symbol | CCZ1 |
|---|---|
| Full Name | CCZ1 homolog, vacuolar protein trafficking and biogenesis associated |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 51622 ncbi.nlm.nih.gov/gene/51622 |
| Ensembl ID | ENSG00000106331 |
| UniProt ID | Q86VY4 |
| OMIM ID | 619604 |
| HGNC ID | 24277 |
| Aliases | CCZ1A, C7orf28, MON1A, SAND1 |
Description
CCZ1 encodes a protein that functions as a guanine nucleotide exchange factor (GEF) for the small GTPase Rab7, in complex with MON1B. This complex is essential for the conversion of Rab5 to Rab7 on early endosomes, regulating endosomal maturation and lysosomal biogenesis. CCZ1 is involved in vacuolar protein trafficking and autophagy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may disrupt endosomal trafficking and autophagy, contributing to tumorigenesis. | COSMIC; literature |
| Neurodegenerative disorders | Dysregulation of Rab7 activation via CCZ1 may impair lysosomal function, linked to neurodegeneration. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Adrenal gland | 9.8 | Medium |
| Lymph node | 8.1 | Medium |
| Brain | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | Embryonic kidney |
| HeLa | 11.7 | Cervical carcinoma |
| K562 | 9.2 | Leukemia |
| A549 | 8.5 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Unknown significance; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CCZ1 impair Rab7 activation, disrupting endosomal maturation and autophagy.
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)
Pathways
• Endosomal maturation (Rab5 to Rab7 conversion)
• Autophagy – lysosomal degradation
Protein Summary
CCZ1 forms a complex with MON1B to act as a GEF for Rab7, a key regulator of late endosomal and lysosomal trafficking. The protein is localized to early endosomes and is required for proper endosome-to-lysosome transport. It is ubiquitously expressed with higher levels in testis and thyroid.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCZ1B Knockout HEK293 Cell Line | EDJ-KQ8924 | Human | 221960 | Details Get a Quote |
| CCZ1B Knockout HCT 116 Cell Line | EDJ-KQ34044 | Human | 221960 | Details Get a Quote |
| CCZ1B Knockout A-549 Cell Line | EDJ-KQ35273 | Human | 221960 | Details Get a Quote |
| CCZ1B Knockout HeLa Cell Line | EDJ-KQ35274 | Human | 221960 | Details Get a Quote |
| CCZ1 Knockout HEK293 Cell Line | EDJ-KQ51333 | Human | 51622 | Details Get a Quote |
| CCZ1 Knockout HeLa Cell Line | EDJ-KQ56336 | Human | 51622 | Details Get a Quote |
| CCZ1 Knockout A-549 Cell Line | EDJ-KQ64824 | Human | 51622 | Details Get a Quote |
| CCZ1 Knockout HCT 116 Cell Line | EDJ-KQ73269 | Human | 51622 | Details Get a Quote |
