KEGG   Homo sapiens (human): 79158Help
Entry
79158             CDS       T01001                                 

Gene name
GNPTAB, GNPTA, ICD
Definition
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (EC:2.7.8.17)
Orthology
K08239  
UDP-N-acetylglucosamine-lysosomal-enzyme [EC:2.7.8.17]
Organism
hsa  Homo sapiens (human)
Pathway
Lysosome
Disease
H00143  
Mucolipidosis II and III
Class
Cellular Processes; Transport and catabolism; Lysosome [PATH:hsa04142]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
12q23.2
AA seq 1256 aa AA seqDB search
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 NT seq  +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

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