ENSG00000106992


Homo sapiens

Features
Gene ID: ENSG00000106992
  
Biological name :AK1
  
Synonyms : adenylate kinase 1 / AK1 / P00568
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: q34.11
Gene start: 127866480
Gene end: 127877743
  
Corresponding Affymetrix probe sets: 202587_s_at (Human Genome U133 Plus 2.0 Array)   202588_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494600
Ensembl peptide - ENSP00000448741
Ensembl peptide - ENSP00000449130
Ensembl peptide - ENSP00000223836
Ensembl peptide - ENSP00000362249
Ensembl peptide - ENSP00000362271
NCBI entrez gene - 203     See in Manteia.
OMIM - 103000
RefSeq - XM_017014428
RefSeq - NM_000476
RefSeq - NM_001318121
RefSeq - NM_001318122
RefSeq - XM_017014427
RefSeq Peptide - NP_000467
RefSeq Peptide - NP_001305050
RefSeq Peptide - NP_001305051
swissprot - P00568
swissprot - H0YID2
swissprot - Q5T9B7
swissprot - Q6FGX9
swissprot - F8VRY5
Ensembl - ENSG00000106992
  
Related genetic diseases (OMIM): 612631 - Hemolytic anemia due to adenylate kinase deficiency, 612631
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ak1ENSDARG00000001950Danio rerio
 AK1ENSGALG00000029150Gallus gallus
 Ak1ENSMUSG00000026817Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AK5 / Q9Y6K8 / adenylate kinase 5ENSG0000015402755
CMPK1 / P30085 / cytidine/uridine monophosphate kinase 1ENSG0000016236838


Protein motifs (from Interpro)
Interpro ID Name
 IPR000850  Adenylate kinase/UMP-CMP kinase
 IPR006267  Adenylate kinase, isozyme 1/5
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR028582  Adenylate kinase isoenzyme 1
 IPR033690  Adenylate kinase, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006139 nucleobase-containing compound metabolic process IEA
 biological_processGO:0006165 nucleoside diphosphate phosphorylation IEA
 biological_processGO:0006172 ADP biosynthetic process IEA
 biological_processGO:0007050 cell cycle arrest IEA
 biological_processGO:0009142 nucleoside triphosphate biosynthetic process IEA
 biological_processGO:0015949 nucleobase-containing small molecule interconversion TAS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0046033 AMP metabolic process IEA
 biological_processGO:0046034 ATP metabolic process IEA
 biological_processGO:0046939 nucleotide phosphorylation IEA
 cellular_componentGO:0001520 outer dense fiber IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0036126 sperm flagellum IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004017 adenylate kinase activity IEA
 molecular_functionGO:0004550 nucleoside diphosphate kinase activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019205 nucleobase-containing compound kinase activity IEA


Pathways (from Reactome)
Pathway description
Interconversion of nucleotide di- and triphosphates


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001878 Hemolytic anemia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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