ENSG00000100031


Homo sapiens

Features
Gene ID: ENSG00000100031
  
Biological name :GGT1
  
Synonyms : gamma-glutamyltransferase 1 / GGT1 / P19440
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q11.23
Gene start: 24583750
Gene end: 24629005
  
Corresponding Affymetrix probe sets: 207131_x_at (Human Genome U133 Plus 2.0 Array)   208284_x_at (Human Genome U133 Plus 2.0 Array)   209919_x_at (Human Genome U133 Plus 2.0 Array)   211417_x_at (Human Genome U133 Plus 2.0 Array)   215603_x_at (Human Genome U133 Plus 2.0 Array)   233837_at (Human Genome U133 Plus 2.0 Array)   244179_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000385016
Ensembl peptide - ENSP00000385001
Ensembl peptide - ENSP00000385445
Ensembl peptide - ENSP00000417044
Ensembl peptide - ENSP00000415553
Ensembl peptide - ENSP00000415129
Ensembl peptide - ENSP00000415068
Ensembl peptide - ENSP00000415024
Ensembl peptide - ENSP00000408151
Ensembl peptide - ENSP00000403826
Ensembl peptide - ENSP00000400621
Ensembl peptide - ENSP00000398589
Ensembl peptide - ENSP00000395271
Ensembl peptide - ENSP00000393537
Ensembl peptide - ENSP00000393135
Ensembl peptide - ENSP00000389935
Ensembl peptide - ENSP00000387796
Ensembl peptide - ENSP00000387499
Ensembl peptide - ENSP00000248923
Ensembl peptide - ENSP00000383231
Ensembl peptide - ENSP00000383232
Ensembl peptide - ENSP00000384381
Ensembl peptide - ENSP00000384820
NCBI entrez gene - 2678     See in Manteia.
OMIM - 612346
RefSeq - NM_001288833
RefSeq - NM_013421
RefSeq - NM_013430
RefSeq Peptide - NP_038265
RefSeq Peptide - NP_038347
RefSeq Peptide - NP_001275762
swissprot - E7ETJ6
swissprot - E7ET76
swissprot - E7ESL5
swissprot - E7ERN9
swissprot - E7ENJ5
swissprot - E7EM62
swissprot - C9JIY6
swissprot - C9JGF3
swissprot - B5MC36
swissprot - B5MC34
swissprot - A0A140VJJ9
swissprot - P19440
swissprot - E9PHP2
swissprot - E7ETU4
swissprot - E7EVF8
swissprot - E7ETR7
swissprot - E7ETN1
Ensembl - ENSG00000100031
  
Related genetic diseases (OMIM): 231950 - ?Glutathioninuria, 231950
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
 CU914631.1ENSDARG00000098576Danio rerio
 ggt1aENSDARG00000023526Danio rerio
 ggt1bENSDARG00000018342Danio rerio
 ggt1l2.1ENSDARG00000075055Danio rerio
 ggt1l2.2ENSDARG00000087054Danio rerio
 si:ch73-236c18.3ENSDARG00000075541Danio rerio
 si:ch73-59p9.2ENSDARG00000091254Danio rerio
 si:dkey-222h21.12ENSDARG00000092350Danio rerio
 ENSGALG00000006565Gallus gallus
 Ggt1ENSMUSG00000006345Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GGT2 / P36268 / gamma-glutamyltransferase 2ENSG0000013347595
GGT5 / P36269 / gamma-glutamyltransferase 5ENSG0000009999840
GGTLC1 / Q9BX51 / gamma-glutamyltransferase light chain 1ENSG0000014943538
B5MD39 / GGTLC3 / gamma-glutamyltransferase light chain family member 3ENSG0000027425237
GGTLC2 / Q14390 / gamma-glutamyltransferase light chain 2ENSG0000010012135
GGT7 / Q9UJ14 / gamma-glutamyltransferase 7ENSG0000013106731
GGT6 / Q6P531 / gamma-glutamyltransferase 6ENSG0000016774118


Protein motifs (from Interpro)
Interpro ID Name
 IPR000101  Gamma-glutamyltranspeptidase
 IPR029055  Nucleophile aminohydrolases, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002682 regulation of immune system process ISS
 biological_processGO:0006412 translation IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006520 cellular amino acid metabolic process IDA
 biological_processGO:0006536 glutamate metabolic process IDA
 biological_processGO:0006631 fatty acid metabolic process IDA
 biological_processGO:0006691 leukotriene metabolic process TAS
 biological_processGO:0006749 glutathione metabolic process IEA
 biological_processGO:0006750 glutathione biosynthetic process ISS
 biological_processGO:0006751 glutathione catabolic process IEA
 biological_processGO:0006805 xenobiotic metabolic process TAS
 biological_processGO:0007283 spermatogenesis ISS
 biological_processGO:0019344 cysteine biosynthetic process ISS
 biological_processGO:0031638 zymogen activation IDA
 biological_processGO:0050727 regulation of inflammatory response ISS
 biological_processGO:1901750 leukotriene D4 biosynthetic process IDA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000048 peptidyltransferase activity IDA
 molecular_functionGO:0002951 leukotriene-C(4) hydrolase IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0036374 glutathione hydrolase activity IEA
 molecular_functionGO:0102953 hypoglycin A gamma-glutamyl transpeptidase activity IEA
 molecular_functionGO:0103068 leukotriene C4 gamma-glutamyl transferase activity IEA


Pathways (from Reactome)
Pathway description
Glutathione synthesis and recycling
Synthesis of Leukotrienes (LT) and Eoxins (EX)
Aflatoxin activation and detoxification
Defective GGT1 causes Glutathionuria (GLUTH)
Defective GGT1 causes Glutathionuria (GLUTH)


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:0001249 Mental retardation 
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 HP:0001939 Metabolism abnormality 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100031 GGT1 / P19440 / gamma-glutamyltransferase 1  / complex






 

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