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Results for the Protein: Q9H3H5
18202943

GPT_HUMAN RecName: Full=UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase; AltName: Full=GlcNAc-1-P transferase; Short=G1PT; Short=GPT; AltName: Full=N-acetylglucosamine-1-phosphate transferase

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION 1J (CDG1J)
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ
  MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2
  MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES, 2 (CMSTA2)
16
2
9
1
8
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Default View:

Rfe - COG0472
GT_GPT_euk - cd06855
GT_GPT_archaea - cd06856
GT_GPT_like - cd06851
GT_WecA_like - cd06853
GT_MraY-like - cd06499
GT_MraY - cd06852
GT_MraY_like - cd06912
Glycos_transf_4 - pfam00953


Swiss-Prot Protein: Q9H3H5
Identical to: NP_001373
   Default View:











Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GT_GPT_eukcd068554.9e-20929317
GT_GPT_likecd068517.6e-11542288
GT_GPT_archaeacd068564e-1142394
GT_WecA_likecd068538.1e-0947309
GT_MraY-likecd064994.3e-6753266
GT_MraYcd068521e-0567280
GT_MraY_likecd069120.0005591266
Glycos_transf_4pfam009539.6e-3598270

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068813Diseasep.GLY160SERMyasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2)
Swiss-ProtVAR_068814Diseasep.GLY192SERMyasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2)
dbSNPrs643788 Polymorphismp.ILE393VALN/A
Swiss-ProtVAR_068812Diseasep.LEU120METMyasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2)
Swiss-ProtVAR_068810Diseasep.MET108ILEMyasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2)
Swiss-ProtVAR_036422Polymorphismp.MET9ILEN/A
Swiss-ProtVAR_017243Diseasep.TYR170CYSCongenital disorder of glycosylation 1J (CDG1J)
Swiss-ProtVAR_068815Diseasep.VAL264GLYMyasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2)
Swiss-ProtVAR_068811Diseasep.VAL117ILEMyasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2)
OMIM191350.0009 Diseasep.ALA114GLYCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
OMIM191350.0007 Diseasep.ILE69ASNCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
OMIM191350.0010 Diseasep.ILE29PHECONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
OMIM191350.0005 Diseasep.LEU120METMYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2
OMIM191350.0011 Diseasep.LEU168PROCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
OMIM191350.0003 Diseasep.MET108ILEMYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2
OMIM191350.0001 Diseasep.TYR170CYSCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
OMIM191350.0006 Diseasep.VAL264GLYMYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2
OMIM191350.0002 Diseasep.VAL117ILEMYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2



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