CCZ1 - CCZ1 homolog, vacuolar protein trafficking and biogenesis associated Gene

Homo sapiens

Also known as CCZ1A; CGI-43; C7orf28A; H_DJ1163J12.2

Gene ID: 51622 | Gene type: protein coding

About CCZ1

This gene has 7 transcripts (splice variants), 210 orthologues and 1 paralogue. Ubiquitous expression in adrenal (RPKM 39.9), urinary bladder (RPKM 31.0) and 25 other tissues.

Summary

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Apr 2022]

CCZ1 Products(1)

mRNA	Protein	Name
NM_015622.6	NP_056437.4	vacuolar fusion protein CCZ1 homolog

CCZ1 Protein Structure

DUF1712

0
100
200
300
400
482 a.a.

Protein Preferred Names

Protein Names

vacuolar fusion protein CCZ1 homolog

CCZ1 vacuolar protein trafficking and biogenesis associated homolog

Related Diseases

Diseases

Alias

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02186	CCZ1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CCZ1	MGD	MGI:2141070