| Entry |
|
| Gene name |
GNPTAB, GNPTA, ICD
|
| Definition |
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (EC:2.7.8.17)
|
| Orthology |
| UDP-N-acetylglucosamine-lysosomal-enzyme [EC: 2.7.8.17] |
|
| Organism |
|
| Pathway |
|
| Disease |
|
| Class |
Cellular Processes; Transport and catabolism; Lysosome [PATH: hsa04142]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
12q23.2
|
| 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 |