Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
221960
Gene name Gene Name - the full gene name approved by the HGNC.
CCZ1B vacuolar protein trafficking and biogenesis associated
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCZ1B
Synonyms (NCBI Gene) Gene synonyms aliases
C7orf28A, C7orf28B, CCZ1, H_NH0577018.2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024419 hsa-miR-215-5p Microarray 19074876
MIRT026766 hsa-miR-192-5p Microarray 19074876
MIRT048533 hsa-miR-100-5p CLASH 23622248
MIRT441039 hsa-miR-218-5p HITS-CLIP 23212916
MIRT441039 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005765 Component Lysosomal membrane IEA
GO:0016192 Process Vesicle-mediated transport IBA 21873635
GO:0035658 Component Mon1-Ccz1 complex IEA
GO:0043231 Component Intracellular membrane-bounded organelle IBA 21873635
GO:0043231 Component Intracellular membrane-bounded organelle IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID P86790
Protein name Vacuolar fusion protein CCZ1 homolog B (Vacuolar fusion protein CCZ1 homolog-like)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19031 Intu_longin_1 24 150 First Longin domain of INTU, CCZ1 and HPS4 Domain
PF19032 Intu_longin_2 220 347 Intu longin-like domain 2 Domain
PF19033 Intu_longin_3 372 470 Intu longin-like domain 3 Domain
Sequence
Sequence length 482
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Mitophagy - animal   RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Retinitis pigmentosa Retinitis Pigmentosa rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114
View all (1830 more)
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