ENSG00000171766


Homo sapiens

Features
Gene ID: ENSG00000171766
  
Biological name :GATM
  
Synonyms : GATM / glycine amidinotransferase / P50440
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q21.1
Gene start: 45361124
Gene end: 45402327
  
Corresponding Affymetrix probe sets: 1557692_a_at (Human Genome U133 Plus 2.0 Array)   1566861_at (Human Genome U133 Plus 2.0 Array)   203178_at (Human Genome U133 Plus 2.0 Array)   216733_s_at (Human Genome U133 Plus 2.0 Array)   231590_at (Human Genome U133 Plus 2.0 Array)   231686_at (Human Genome U133 Plus 2.0 Array)   235426_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000453087
Ensembl peptide - ENSP00000453151
Ensembl peptide - ENSP00000453781
Ensembl peptide - ENSP00000453860
Ensembl peptide - ENSP00000454008
Ensembl peptide - ENSP00000379895
Ensembl peptide - ENSP00000452971
NCBI entrez gene - 2628     See in Manteia.
OMIM - 602360
RefSeq - NM_001321015
RefSeq - NM_001482
RefSeq Peptide - NP_001307944
RefSeq Peptide - NP_001473
swissprot - P50440
swissprot - A0A140VK19
swissprot - H0YKW9
swissprot - H0YL75
swissprot - H0YLC6
swissprot - H0YMX4
swissprot - H0YN43
Ensembl - ENSG00000171766
  
Related genetic diseases (OMIM): 612718 - Cerebral creatine deficiency syndrome 3, 612718
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
 gatmENSDARG00000036239Danio rerio
 GATMENSGALG00000023435Gallus gallus
 GatmENSMUSG00000027199Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR033195  Glycine/inosamine-phosphate amidinotransferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006600 creatine metabolic process IMP
 biological_processGO:0006601 creatine biosynthetic process IDA
 biological_processGO:0007275 multicellular organism development IMP
 biological_processGO:0007611 learning or memory IMP
 biological_processGO:0014889 muscle atrophy IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005758 mitochondrial intermembrane space TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0015067 amidinotransferase activity IEA
 molecular_functionGO:0015068 glycine amidinotransferase activity TAS
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
Creatine metabolism


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:0000717 Autism 
Show

 HP:0000750 Impaired language development 
Show

 HP:0001249 Mental retardation 
Show

 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
Show

 HP:0001508 Failure to thrive 
Show

 HP:0001992 Organic aciduria 
Show

 HP:0003391 Gower sign "A phenomen whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [HPO:probinson]
Show

 HP:0003593 Early onset 
Show

 HP:0012113 Abnormality of creatine metabolism "An anomaly of the concentration or homeostasis of `creatine` (CHEBI:16919). Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000171766 GATM / P50440 / glycine amidinotransferase  / complex






 

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