ENSG00000108479


Homo sapiens

Features
Gene ID: ENSG00000108479
  
Biological name :GALK1
  
Synonyms : galactokinase 1 / GALK1 / P51570
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q25.1
Gene start: 75751594
Gene end: 75765711
  
Corresponding Affymetrix probe sets: 204374_s_at (Human Genome U133 Plus 2.0 Array)   229458_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000464765
Ensembl peptide - ENSP00000465930
Ensembl peptide - ENSP00000468288
Ensembl peptide - ENSP00000468341
Ensembl peptide - ENSP00000225614
NCBI entrez gene - 2584     See in Manteia.
OMIM - 604313
RefSeq - NM_000154
RefSeq Peptide - NP_000145
swissprot - V9HWE7
swissprot - K7EII7
swissprot - K7ERJ9
swissprot - K7ERN9
swissprot - P51570
Ensembl - ENSG00000108479
  
Related genetic diseases (OMIM): 230200 - Galactokinase deficiency with cataracts, 230200
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
 galk1ENSDARG00000028088Danio rerio
 GALK1ENSGALG00000002311Gallus gallus
 Galk1ENSMUSG00000020766Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GALK2 / Q01415 / galactokinase 2ENSG0000015695833


Protein motifs (from Interpro)
Interpro ID Name
 IPR000705  Galactokinase
 IPR006203  GHMP kinase, ATP-binding, conserved site
 IPR006204  GHMP kinase N-terminal domain
 IPR006206  Mevalonate/galactokinase
 IPR013750  GHMP kinase, C-terminal domain
 IPR014721  Ribosomal protein S5 domain 2-type fold, subgroup
 IPR019539  Galactokinase galactose-binding domain
 IPR019741  Galactokinase, conserved site
 IPR020568  Ribosomal protein S5 domain 2-type fold
 IPR036554  GHMP kinase, C-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006012 galactose metabolic process IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0019388 galactose catabolic process TAS
 biological_processGO:0019402 galactitol metabolic process IEA
 biological_processGO:0046835 carbohydrate phosphorylation IEA
 biological_processGO:0061623 glycolytic process from galactose IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004335 galactokinase activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0005534 galactose binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016773 phosphotransferase activity, alcohol group as acceptor IEA


Pathways (from Reactome)
Pathway description
Defective GALK1 can cause Galactosemia II (GALCT2)
Galactose catabolism


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]
Show

 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
Show

 HP:0002516 Increased intracranial pressure 
Show

 HP:0004915 impaired galactose metabolism 
Show

 HP:0006579 Prolonged neonatal jaundice 
Show

 HP:0012023 Galactosuria "Elevated concentration of `galactose` (CHEBI:28260) in the urine." [HPO:probinson]
Show

 HP:0012024 Hypergalactosemia "Elevated concentration of `galactose` (CHEBI:28260) in the blood." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr