CCZ1B
CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated
Gene Information Card
| Symbol | CCZ1B |
|---|---|
| Full Name | CCZ1 homolog B |
| Gene Type | protein-coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 222092 ncbi.nlm.nih.gov/gene/222092 |
| Ensembl ID | ENSG00000164828 |
| UniProt ID | Q5T0T0 |
| OMIM ID | 619010 |
| HGNC ID | 26823 |
| Aliases | CCZ1, C7orf28, FLJ22604 |
Description
CCZ1B is a protein-coding gene that encodes a homolog of the yeast CCZ1 protein, which is involved in vacuolar protein trafficking and biogenesis. The gene is located on chromosome 7p22.3 and is expressed in multiple tissues. Its exact function in humans is not fully characterized, but it is predicted to play a role in endosomal-lysosomal trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Adrenal gland | 6.1 | Low |
| Brain | 5.0 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.0 | Low expression |
| A549 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • intracellular protein transport |
| • endosome to lysosome transport | • vacuolar transport |
Pathways
• Endosomal-lysosomal trafficking
• Vacuolar protein sorting
Protein Summary
The CCZ1B protein is a 222-amino acid polypeptide with a predicted molecular weight of 25.5 kDa. It contains a CCZ1 domain and is thought to be involved in membrane trafficking between endosomes and lysosomes. Structural predictions suggest it may interact with other trafficking proteins, but experimental validation is limited.
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 |
