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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZNG1A
Zn regulated GTPase metalloprotein activator 1A
Chromosome 9 Β· 9p24.3
NCBI Gene: 55871Ensembl: ENSG00000172785.19HGNC: HGNC:17134UniProt: A0A087X140
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
kidney developmentprotein bindingzinc chaperone activitycytoplasmhair colorcombined immunodeficiency due to DOCK8 deficiencyVaricose veinsB-cell acute lymphoblastic leukemia
✦AI Summary

Based on limited published evidence, ZNG1A encodes a zinc chaperone that activates metalloproteins by transferring zinc cofactors to their active sites. Structurally, ZNG1A's N-terminal psi-PxLVp motif docks with the zinc finger domain of methionine aminopeptidase METAP1, facilitating zinc transfer from ZNG1A's CXCC motif via GTP hydrolysis, followed by GTP/GDP exchange for METAP1 release. METAP1 activation enables removal of initiator methionines from nascent polypeptides. ZNG1A localizes to nucleus and cytoplasm and exhibits zinc ion binding activity. Recent whole-genome sequencing identified ZNG1A among 24 critical genes for 9p deletion syndrome, with potential involvement in mitochondrial function 1.

Sources cited
1
ZNG1A identified as one of 24 genes important for 9p deletion syndrome; implicated in mitochondrial function
PMID: 41137173
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
hair colorOpen Targets
0.34Weak
combined immunodeficiency due to DOCK8 deficiencyOpen Targets
0.33Weak
Varicose veinsOpen Targets
0.30Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.25Weak
revision of total knee arthroplastyOpen Targets
0.21Weak
skin agingOpen Targets
0.19Weak
cutaneous melanomaOpen Targets
0.19Weak
aseptic looseningOpen Targets
0.18Weak
androgenetic alopeciaOpen Targets
0.16Weak
lymphatic system diseaseOpen Targets
0.14Weak
vein disorderOpen Targets
0.14Weak
congenital hydronephrosisOpen Targets
0.07Suggestive
ureter cancerOpen Targets
0.07Suggestive
ureteral neoplasmOpen Targets
0.07Suggestive
ureteroceleOpen Targets
0.07Suggestive
coronary artery diseaseOpen Targets
0.07Suggestive
Genetic renal or urinary tract malformationOpen Targets
0.07Suggestive
familial vesicoureteral refluxOpen Targets
0.07Suggestive
congenital primary megaureterOpen Targets
0.06Suggestive
Ochoa syndromeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
DMRT2Co-mentioned in literature100%RCL1Co-mentioned in literature100%RIC1Co-mentioned in literature100%PUM3Co-mentioned in literature100%RANBP6Co-mentioned in literature100%AK3Co-mentioned in literature100%
Tissue Expression6 tissues
Brain
100%
Ovary
89%
Liver
69%
Lung
67%
Bone Marrow
40%
Heart
28%
Gene Interaction Network
Click a node to explore
ZNG1ADMRT2RCL1RIC1PUM3RANBP6AK3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9BRT8
View on AlphaFold β†—
RankingsWhere ZNG1A stands among ~20K protein-coding genes
  • #11,099of 20,598
    Most Researched35
Genes detectedZNG1A
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes.
PMID: 40196253
medRxiv Β· 2025
1.00
2
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.
PMID: 41137173
Genome Med Β· 2025
0.50