CCZ1 (CCZ1 vacuolar protein trafficking and biogenesis associated)

Gene

• Entrez ID: 51622
• Gene name: CCZ1 vacuolar protein trafficking and biogenesis associated
• Gene symbol: CCZ1
• Synonyms (NCBI Gene): C7orf28A, CCZ1A, CGI-43, H_DJ1163J12.2
• Chromosome: 7
• Chromosome location: 7p22.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024417	hsa-miR-215-5p	Microarray	19074876
MIRT026119	hsa-miR-192-5p	Microarray	19074876
MIRT873603	hsa-miR-137	CLIP-seq
MIRT873604	hsa-miR-145	CLIP-seq
MIRT873605	hsa-miR-186	CLIP-seq
MIRT873606	hsa-miR-203	CLIP-seq
MIRT873607	hsa-miR-214	CLIP-seq
MIRT873608	hsa-miR-2355-3p	CLIP-seq
MIRT873609	hsa-miR-3180-5p	CLIP-seq
MIRT873610	hsa-miR-330-3p	CLIP-seq
MIRT873611	hsa-miR-3607-5p	CLIP-seq
MIRT873612	hsa-miR-3619-5p	CLIP-seq
MIRT873613	hsa-miR-4291	CLIP-seq
MIRT873614	hsa-miR-4474-5p	CLIP-seq
MIRT873615	hsa-miR-4501	CLIP-seq
MIRT873616	hsa-miR-4637	CLIP-seq
MIRT873617	hsa-miR-4712-5p	CLIP-seq
MIRT873618	hsa-miR-676	CLIP-seq
MIRT873619	hsa-miR-761	CLIP-seq
MIRT873620	hsa-miR-770-5p	CLIP-seq
MIRT873621	hsa-miR-922	CLIP-seq
MIRT873604	hsa-miR-145	CLIP-seq
MIRT1959156	hsa-miR-2467-3p	CLIP-seq
MIRT873609	hsa-miR-3180-5p	CLIP-seq
MIRT873611	hsa-miR-3607-5p	CLIP-seq
MIRT1959157	hsa-miR-3659	CLIP-seq
MIRT1959158	hsa-miR-3678-3p	CLIP-seq
MIRT873614	hsa-miR-4474-5p	CLIP-seq
MIRT873615	hsa-miR-4501	CLIP-seq
MIRT873616	hsa-miR-4637	CLIP-seq
MIRT873617	hsa-miR-4712-5p	CLIP-seq
MIRT1959159	hsa-miR-4760-5p	CLIP-seq
MIRT1959160	hsa-miR-759	CLIP-seq
MIRT873620	hsa-miR-770-5p	CLIP-seq
MIRT873603	hsa-miR-137	CLIP-seq
MIRT873605	hsa-miR-186	CLIP-seq
MIRT873606	hsa-miR-203	CLIP-seq
MIRT873608	hsa-miR-2355-3p	CLIP-seq
MIRT2196093	hsa-miR-23a	CLIP-seq
MIRT2196094	hsa-miR-23b	CLIP-seq
MIRT2196095	hsa-miR-23c	CLIP-seq
MIRT2196096	hsa-miR-3140-5p	CLIP-seq
MIRT873610	hsa-miR-330-3p	CLIP-seq
MIRT873611	hsa-miR-3607-5p	CLIP-seq
MIRT2196097	hsa-miR-3651	CLIP-seq
MIRT873615	hsa-miR-4501	CLIP-seq
MIRT873616	hsa-miR-4637	CLIP-seq
MIRT873618	hsa-miR-676	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	23084991
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	23084991
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0035658	Component	Mon1-Ccz1 complex	IDA	29038162
GO:0035658	Component	Mon1-Ccz1 complex	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA

Other IDs

• MIM: 620660
• HGNC: 21691
• e!Ensembl: ENSG00000122674

Interactions View interactions

Pathways

KEGG:

Mitophagy - animal

Reactome:

RAB GEFs exchange GTP for GDP on RABs

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations