Gene Gene information from NCBI Gene database.
Entrez ID 50808
Gene name Adenylate kinase 3
Gene symbol AK3
Synonyms (NCBI Gene)
AK3L1AK6AKL3LAKL3L1FIX
Chromosome 9
Chromosome location 9p24.1
Summary The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
miRNA miRNA information provided by mirtarbase database.
560
miRTarBase ID miRNA Experiments Reference
MIRT022580 hsa-miR-124-3p Microarray 18668037
MIRT030501 hsa-miR-24-3p Microarray 19748357
MIRT048103 hsa-miR-197-3p CLASH 23622248
MIRT043088 hsa-miR-324-5p CLASH 23622248
MIRT774781 hsa-let-7a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004017 Function AMP kinase activity IDA 11485571
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0005524 Function ATP binding IEA
GO:0005525 Function GTP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609290 17376 ENSG00000147853
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UIJ7
Protein name GTP:AMP phosphotransferase AK3, mitochondrial (EC 2.7.4.10) (Adenylate kinase 3) (Adenylate kinase 3 alpha-like 1) (Adenylate kinase isozyme 3)
Protein function Mitochondrial adenylate kinase with a specific GTP:AMP phosphotransferase activity (PubMed:11485571, PubMed:32822537). Could also use ITP as phosphate donor (PubMed:11485571). Its physiological function is to recycle GTP into GDP which is necess
PDB 1ZD8 , 6ZJB , 6ZJD , 6ZJE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00406 ADK 12 192 Domain
PF05191 ADK_lid 128 163 Adenylate kinase, active site lid Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle and liver, moderately expressed in pancreas and kidney, and weakly expressed in placenta, brain and lung. {ECO:0000269|PubMed:11485571}.
Sequence
Sequence length 227
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Nucleotide metabolism
Biosynthesis of cofactors
  Factors involved in megakaryocyte development and platelet production
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
MULTINODULAR GOITER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 29526028, 30887613
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 15357775
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy BEFREE 30559263
★☆☆☆☆
Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE Lymphocytic Leukemia BEFREE 16906577
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 16322469, 16643212, 18293119, 24042561, 24762281, 28599169
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33597614, 34600547 Associate
★☆☆☆☆
Found in Text Mining only
Cataract, total congenital with posterior sutural opacities in Heterozygotes Congenital Cataract BEFREE 9590153
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 28393470
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 16906577
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 23377828 Associate
★☆☆☆☆
Found in Text Mining only