Annotation Detail for GNPTAB

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Basic Information Top
Gene Symbol:GNPTAB ( DKFZp762B226,GNPTA,ICD,KIAA1208,MGC4170 )
Gene Full Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Band: 12q23.2
Quick LinksEntrez ID:79158; OMIM: 607840; Uniprot ID:GNPTA_HUMAN; ENSEMBL ID: ENSG00000111670
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0005794IEA-Golgi apparatus-
GO:0016021IEA-integral to membrane-
GO ID Evidence Qualifier GO_term References
GO:0003976IEA-UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity-
GO:0008134IEA-transcription factor binding-
GO:0016772IEA-transferase activity, transferring phosphorus-containing groups-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0009306IEA-protein secretion-
GO:0030154IEA-cell differentiation-
GO:0046835IEA-carbohydrate phosphorylation-
Protein-Protein Interaction Top
Genomic Variants Top
No data
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_101606 chr12:100665254-100665925 19546169 ABI SOLiD Sequencing 1 0 1- 1 male Yoruban Individual from Ibadan Nigeria GNPTAB
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:3643902
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:3757945Gnptab[Gt(OST97730)Lex]Allele from Mouse Gene trapped
  • nervous system phenotype
  • homeostasis/metabolism phenotype
  • growth/size phenotype
  • endocrine/exocrine gland phenotype
  • digestive/alimentary phenotype
  • cellular phenotype
  • reproductive system phenotype
  • skeleton phenotype
  • vision/eye phenotype
MGI:4818381Gnptab[tm1Kkol]Allele from Mouse Targeted (knock-in)
  • homeostasis/metabolism phenotype