Gene Gene information from NCBI Gene database.
Entrez ID 55871
Gene name Zn regulated GTPase metalloprotein activator 1A
Gene symbol ZNG1A
Synonyms (NCBI Gene)
CBWD1COBP
Chromosome 9
Chromosome location 9p24.3
miRNA miRNA information provided by mirtarbase database.
187
miRTarBase ID miRNA Experiments Reference
MIRT048672 hsa-miR-99a-5p CLASH 23622248
MIRT047172 hsa-miR-182-3p CLASH 23622248
MIRT043329 hsa-miR-331-3p CLASH 23622248
MIRT499082 hsa-miR-7-1-3p PAR-CLIP 21572407
MIRT499081 hsa-miR-7-2-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001822 Process Kidney development IMP 31862704
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005525 Function GTP binding IEA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611078 17134 ENSG00000172785
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRT8
Protein name Zinc-regulated GTPase metalloprotein activator 1A (EC 3.6.5.-) (Cobalamin synthase W domain-containing protein 1) (COBW domain-containing protein 1) (NPC-A-6 COBW domain-containing protein 1) (NPC-A-6)
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Up-regulated in cultured astrocytes treated with dopamine. {ECO:0000269|PubMed:15233989}.
Sequence
Sequence length 395
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations