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
LinkDB
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

KEGG   Homo sapiens (human): 84572
Entry
84572             CDS       T01001                                 
Symbol
GNPTG, C16orf27, GNPTAG, LP2537, RJD9
Name
(RefSeq) N-acetylglucosamine-1-phosphate transferase subunit gamma
  KO
K10087  N-acetylglucosamine-1-phosphate transferase, gamma subunit
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H02130  Mucolipidosis III
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    84572 (GNPTG)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04091 Lectins [BR:hsa04091]
    84572 (GNPTG)
Lectins [BR:hsa04091]
 P-type lectins
  84572 (GNPTG)
SSDB
Motif
Pfam: PRKCSH PRKCSH_1 DMAP_binding DPM3
Other DBs
NCBI-GeneID: 84572
NCBI-ProteinID: NP_115909
OMIM: 607838
HGNC: 23026
Ensembl: ENSG00000090581
UniProt: Q9UJJ9
LinkDB
Position
16:1351931..1364113
AA seq 305 aa
MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSG
PVHLFRLSGKCFSLVESTYKYEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTG
MWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYALTFETPLVCHPHALLVYPTL
PEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEENEPTQLEGGPDSLGFE
TLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLEHLGHETPRAKSPEQLRGDPG
LRGSL
NT seq 918 nt   +upstreamnt  +downstreamnt
atggcggcggggctggcgcggctcctgttgctcctcgggctctcggccggcgggcccgcg
ccggcaggtgcagcgaagatgaaggtggtggaggagcccaacgcgtttggggtgaacaac
ccgttcttgcctcaggccagtcgcctccaggccaagagggatccttcacccgtgtctgga
cccgtgcatctcttccgactctcgggcaagtgcttcagcctggtggagtccacgtacaag
tatgagttctgcccgttccacaacgtgacccagcacgagcagaccttccgctggaacgcc
tacagtgggatcctcggcatctggcacgagtgggagatcgccaacaacaccttcacgggc
atgtggatgagggacggtgacgcctgccgttcccggagccggcagagcaaggtggagctg
gcgtgtggaaaaagcaaccggctggcccatgtgtccgagccgagcacctgcgtctacgcg
ctgacgttcgagacccccctcgtctgccacccccacgccttgctagtgtacccaaccctg
ccagaggccctgcagcggcagtgggaccaggtagagcaggacctggccgatgagctgatc
accccccagggccatgagaagttgctgaggacactttttgaggatgctggctacttaaag
accccagaagaaaatgaacccacccagctggagggaggtcctgacagcttggggtttgag
accctggaaaactgcaggaaggctcataaagaactctcaaaggagatcaaaaggctgaaa
ggtttgctcacccagcacggcatcccctacacgaggcccacagaaacttccaacttggag
cacttgggccacgagacgcccagagccaagtctccagagcagctgcggggtgacccagga
ctgcgtgggagtttgtga

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