KEGG   Homo sapiens (human): 79158
Entry
79158             CDS       T01001                                 
Symbol
GNPTAB, GNPTA, ICD
Name
(RefSeq) N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
  KO
K08239  UDP-N-acetylglucosamine-lysosomal-enzyme [EC:2.7.8.17]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H00143  Mucolipidosis II
H02130  Mucolipidosis III
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    79158 (GNPTAB)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.8  Transferases for other substituted phosphate groups
    2.7.8.17  UDP-N-acetylglucosamine---lysosomal-enzyme N-acetylglucosaminephosphotransferase
     79158 (GNPTAB)
SSDB
Motif
Pfam: Stealth_CR2 GlcNAc-1_reg DMAP_binding Stealth_CR4 Stealth_CR3 Notch Stealth_CR1 EF-hand_5 EF-hand_1 FapA
Other DBs
NCBI-GeneID: 79158
NCBI-ProteinID: NP_077288
OMIM: 607840
HGNC: 29670
Ensembl: ENSG00000111670
UniProt: Q3T906
Structure
Position
12:complement(101745499..101830959)
AA seq 1256 aa
MLFKLLQRQTYTCLSHRYGLYVCFLGVVVTIVSAFQFGEVVLEWSRDQYHVLFDSYRDNI
AGKSFQNRLCLPMPIDVVYTWVNGTDLELLKELQQVREQMEEEQKAMREILGKNTTEPTK
KSEKQLECLLTHCIKVPMLVLDPALPANITLKDLPSLYPSFHSASDIFNVAKPKNPSTNV
SVVVFDSTKDVEDAHSGLLKGNSRQTVWRGYLTTDKEVPGLVLMQDLAFLSGFPPTFKET
NQLKTKLPENLSSKVKLLQLYSEASVALLKLNNPKDFQELNKQTKKNMTIDGKELTISPA
YLLWDLSAISQSKQDEDISASRFEDNEELRYSLRSIERHAPWVRNIFIVTNGQIPSWLNL
DNPRVTIVTHQDVFRNLSHLPTFSSPAIESHIHRIEGLSQKFIYLNDDVMFGKDVWPDDF
YSHSKGQKVYLTWPVPNCAEGCPGSWIKDGYCDKACNNSACDWDGGDCSGNSGGSRYIAG
GGGTGSIGVGQPWQFGGGINSVSYCNQGCANSWLADKFCDQACNVLSCGFDAGDCGQDHF
HELYKVILLPNQTHYIIPKGECLPYFSFAEVAKRGVEGAYSDNPIIRHASIANKWKTIHL
IMHSGMNATTIHFNLTFQNTNDEEFKMQITVEVDTREGPKLNSTAQKGYENLVSPITLLP
EAEILFEDIPKEKRFPKFKRHDVNSTRRAQEEVKIPLVNISLLPKDAQLSLNTLDLQLEH
GDITLKGYNLSKSALLRSFLMNSQHAKIKNQAIITDETNDSLVAPQEKQVHKSILPNSLG
VSERLQRLTFPAVSVKVNGHDQGQNPPLDLETTARFRVETHTQKTIGGNVTKEKPPSLIV
PLESQMTKEKKITGKEKENSRMEENAENHIGVTEVLLGRKLQHYTDSYLGFLPWEKKKYF
QDLLDEEESLKTQLAYFTDSKNTGRQLKDTFADSLRYVNKILNSKFGFTSRKVPAHMPHM
IDRIVMQELQDMFPEEFDKTSFHKVRHSEDMQFAFSYFYYLMSAVQPLNISQVFDEVDTD
QSGVLSDREIRTLATRIHELPLSLQDLTGLEHMLINCSKMLPADITQLNNIPPTQESYYD
PNLPPVTKSLVTNCKPVTDKIHKAYKDKNKYRFEIMGEEEIAFKMIRTNVSHVVGQLDDI
RKNPRKFVCLNDNIDHNHKDAQTVKAVLRDFYESMFPIPSQFELPREYRNRFLHMHELQE
WRAYRDKLKFWTHCVLATLIMFTIFSFFAEQLIALKRKIFPRRRIHKEASPNRIRV
NT seq 3771 nt   +upstreamnt  +downstreamnt
atgctgttcaagctcctgcagagacagacctatacctgcctgtcccacaggtatgggctc
tacgtgtgcttcttgggcgtcgttgtcaccatcgtctccgccttccagttcggagaggtg
gttctggaatggagccgagatcaataccatgttttgtttgattcctatagagacaatatt
gctggaaagtcctttcagaatcggctttgtctgcccatgccgattgacgttgtttacacc
tgggtgaatggcacagatcttgaactactgaaggaactacagcaggtcagagaacagatg
gaggaggagcagaaagcaatgagagaaatccttgggaaaaacacaacggaacctactaag
aagagtgagaagcagttagagtgtttgctaacacactgcattaaggtgccaatgcttgtc
ctggacccagccctgccagccaacatcaccctgaaggacctgccatctctttatccttct
tttcattctgccagtgacattttcaatgttgcaaaaccaaaaaacccttctaccaatgtc
tcagttgttgtttttgacagtactaaggatgttgaagatgcccactctggactgcttaaa
ggaaatagcagacagacagtatggaggggctacttgacaacagataaagaagtccctgga
ttagtgctaatgcaagatttggctttcctgagtggatttccaccaacattcaaggaaaca
aatcaactaaaaacaaaattgccagaaaatctttcctctaaagtcaaactgttgcagttg
tattcagaggccagtgtagcgcttctaaaactgaataaccccaaggattttcaagaattg
aataagcaaactaagaagaacatgaccattgatggaaaagaactgaccataagtcctgca
tatttattatgggatctgagcgccatcagccagtctaagcaggatgaagacatctctgcc
agtcgttttgaagataacgaagaactgaggtactcattgcgatctatcgagaggcatgca
ccatgggttcggaatattttcattgtcaccaacgggcagattccatcctggctgaacctt
gacaatcctcgagtgacaatagtaacacaccaggatgtttttcgaaatttgagccacttg
cctacctttagttcacctgctattgaaagtcacattcatcgcatcgaagggctgtcccag
aagtttatttacctaaatgatgatgtcatgtttgggaaggatgtctggccagatgatttt
tacagtcactccaaaggccagaaggtttatttgacatggcctgtgccaaactgtgccgag
ggctgcccaggttcctggattaaggatggctattgtgacaaggcttgtaataattcagcc
tgcgattgggatggtggggattgctctggaaacagtggagggagtcgctatattgcagga
ggtggaggtactgggagtattggagttggacagccctggcagtttggtggaggaataaac
agtgtctcttactgtaatcagggatgtgcgaattcctggctcgctgataagttctgtgac
caagcatgcaatgtcttgtcctgtgggtttgatgctggcgactgtgggcaagatcatttt
catgaattgtataaagtgatccttctcccaaaccagactcactatattattccaaaaggt
gaatgcctgccttatttcagctttgcagaagtagccaaaagaggagttgaaggtgcctat
agtgacaatccaataattcgacatgcttctattgccaacaagtggaaaaccatccacctc
ataatgcacagtggaatgaatgccaccacaatacattttaatctcacgtttcaaaataca
aacgatgaagagttcaaaatgcagataacagtggaggtggacacaagggagggaccaaaa
ctgaattctacagcccagaagggttacgaaaatttagttagtcccataacacttcttcca
gaggcggaaatcctttttgaggatattcccaaagaaaaacgcttcccgaagtttaagaga
catgatgttaactcaacaaggagagcccaggaagaggtgaaaattcccctggtaaatatt
tcactccttccaaaagacgcccagttgagtctcaataccttggatttgcaactggaacat
ggagacatcactttgaaaggatacaatttgtccaagtcagccttgctgagatcatttctg
atgaactcacagcatgctaaaataaaaaatcaagctataataacagatgaaacaaatgac
agtttggtggctccacaggaaaaacaggttcataaaagcatcttgccaaacagcttagga
gtgtctgaaagattgcagaggttgacttttcctgcagtgagtgtaaaagtgaatggtcat
gaccagggtcagaatccacccctggacttggagaccacagcaagatttagagtggaaact
cacacccaaaaaaccataggcggaaatgtgacaaaagaaaagcccccatctctgattgtt
ccactggaaagccagatgacaaaagaaaagaaaatcacagggaaagaaaaagagaacagt
agaatggaggaaaatgctgaaaatcacataggcgttactgaagtgttacttggaagaaag
ctgcagcattacacagatagttacttgggctttttgccatgggagaaaaaaaagtatttc
caagatcttctcgacgaagaagagtcattgaagacacaattggcatacttcactgatagc
aaaaatactgggaggcaactaaaagatacatttgcagattccctcagatatgtaaataaa
attctaaatagcaagtttggattcacatcgcggaaagtccctgctcacatgcctcacatg
attgaccggattgttatgcaagaactgcaagatatgttccctgaagaatttgacaagacg
tcatttcacaaagtgcgccattctgaggatatgcagtttgccttctcttatttttattat
ctcatgagtgcagtgcagccactgaatatatctcaagtctttgatgaagttgatacagat
caatctggtgtcttgtctgacagagaaatccgaacactggctaccagaattcacgaactg
ccgttaagtttgcaggatttgacaggtctggaacacatgctaataaattgctcaaaaatg
cttcctgctgatatcacgcagctaaataatattccaccaactcaggaatcctactatgat
cccaacctgccaccggtcactaaaagtctagtaacaaactgtaaaccagtaactgacaaa
atccacaaagcatataaggacaaaaacaaatataggtttgaaatcatgggagaagaagaa
atcgcttttaaaatgattcgtaccaacgtttctcatgtggttggccagttggatgacata
agaaaaaaccctaggaagtttgtttgcctgaatgacaacattgaccacaatcataaagat
gctcagacagtgaaggctgttctcagggacttctatgaatccatgttccccataccttcc
caatttgaactgccaagagagtatcgaaaccgtttccttcatatgcatgagctgcaggaa
tggagggcttatcgagacaaattgaagttttggacccattgtgtactagcaacattgatt
atgtttactatattctcattttttgctgagcagttaattgcacttaagcggaagatattt
cccagaaggaggatacacaaagaagctagtcccaatcgaatcagagtatag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (16)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (39)   
   RefSeq(nuc) (5)   
   GenBank (17)   
   EMBL (17)   
3D Structure (3)   
   PDB (3)   
Protein domain (10)   
   Pfam (10)   
All databases (93)   

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