Gene Gene information from NCBI Gene database.
Entrez ID 445571
Gene name Zn regulated GTPase metalloprotein activator 1C
Gene symbol ZNG1C
Synonyms (NCBI Gene)
CBWD3bA561O23.1
Chromosome 9
Chromosome location 9q21.11
miRNA miRNA information provided by mirtarbase database.
67
miRTarBase ID miRNA Experiments Reference
MIRT019864 hsa-miR-375 Microarray 20215506
MIRT2497497 hsa-miR-1207-3p CLIP-seq
MIRT2497498 hsa-miR-2113 CLIP-seq
MIRT2497499 hsa-miR-2276 CLIP-seq
MIRT2497500 hsa-miR-297 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005525 Function GTP binding IEA
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611080 18519 ENSG00000196873
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5JTY5
Protein name Zinc-regulated GTPase metalloprotein activator 1C (EC 3.6.5.-) (Cobalamin synthase W domain-containing protein 3) (COBW domain-containing protein 3)
Protein function Zinc chaperone that directly transfers zinc cofactor to target metalloproteins, thereby activating them. Catalyzes zinc insertion into the active site of methionine aminopeptidase METAP1, which function to cleave the initiator methionine from po
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02492 cobW 43 231 CobW/HypB/UreG, nucleotide-binding domain Domain
PF07683 CobW_C 274 377 Cobalamin synthesis protein cobW C-terminal domain Domain
Sequence
Sequence length 395
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OCULAR SARCOIDOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations