KEGG   Homo sapiens (human): 138050Help
Entry
138050            CDS       T01001                                 

Gene name
HGSNAT, HGNAT, MPS3C, RP73, TMEM76
Definition
(RefSeq) heparan-alpha-glucosaminide N-acetyltransferase
  KO
K10532  heparan-alpha-glucosaminide N-acetyltransferase [EC:2.3.1.78]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00531  Glycosaminoglycan degradation
hsa01100  Metabolic pathways
hsa04142  Lysosome
Module
hsa_M00078  Heparan sulfate degradation
Network
N00615  Heparan sulfate degradation
N00616  GNS deficiency in heparan sulfate degradation
N00617  GUSB deficiency in heparan sulfate degradation
N00618  NAGLU deficiency in heparan sulfate degradation
N00619  HGSNAT deficiency in heparan sulfate degradation
Disease
H00130  Mucopolysaccharidosis type III
H00421  Mucopolysaccharidosis
H00527  Retinitis pigmentosa
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00531 Glycosaminoglycan degradation
    138050 (HGSNAT)
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    138050 (HGSNAT)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.1  Transferring groups other than aminoacyl groups
    2.3.1.78  heparan-alpha-glucosaminide N-acetyltransferase
     138050 (HGSNAT)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: DUF1624 DUF5009 GWT1
Motif
Other DBs
NCBI-GeneID: 138050
NCBI-ProteinID: NP_689632
OMIM: 610453
HGNC: 26527
Ensembl: ENSG00000165102
Vega: OTTHUMG00000164102
Pharos: Q68CP4(Tbio)
UniProt: Q68CP4 Q8IVU6
Position
8p11.21-p11.1
AA seq 635 aa AA seqDB search
MSGAGRALAALLLAASVLSAALLAPGGSSGRDAQAAPPRDLDKKRHAELKMDQALLLIHN
ELLWTNLTVYWKSECCYHCLFQVLVNVPQSPKAGKPSAAAASVSTQHGSILQLNDTLEEK
EVCRLEYRFGEFGNYSLLVKNIHNGVSEIACDLAVNEDPVDSNLPVSIAFLIGLAVIIVI
SFLRLLLSLDDFNNWISKAISSRETDRLINSELGSPSRTDPLDGDVQPATWRLSALPPRL
RSVDTFRGIALILMVFVNYGGGKYWYFKHASWNGLTVADLVFPWFVFIMGSSIFLSMTSI
LQRGCSKFRLLGKIAWRSFLLICIGIIIVNPNYCLGPLSWDKVRIPGVLQRLGVTYFVVA
VLELLFAKPVPEHCASERSCLSLRDITSSWPQWLLILVLEGLWLGLTFLLPVPGCPTGYL
GPGGIGDFGKYPNCTGGAAGYIDRLLLGDDHLYQHPSSAVLYHTEVAYDPEGILGTINSI
VMAFLGVQAGKILLYYKARTKDILIRFTAWCCILGLISVALTKVSENEGFIPVNKNLWSL
SYVTTLSSFAFFILLVLYPVVDVKGLWTGTPFFYPGMNSILVYVGHEVFENYFPFQWKLK
DNQSHKEHLTQNIVATALWVLIAYILYRKKIFWKI
NT seq 1908 nt NT seq  +upstreamnt  +downstreamnt
atgagcggggcgggcagggcgctggccgcgctgctgctggccgcgtccgtgctgagcgcc
gcgctgctggcccccggcggctcttcggggcgcgatgcccaggccgcgccgccacgagac
ttagacaaaaaaagacatgcagagctgaagatggatcaggctttgctactcatccataat
gaacttctctggaccaacttgaccgtctactggaaatctgaatgctgttatcactgcttg
tttcaggttctggtaaacgttcctcagagtccaaaagcagggaagcctagtgctgcagct
gcctctgtcagcacccagcacggatctatcctgcagctgaacgacaccttggaagagaaa
gaagtttgtaggttggaatacagatttggagaatttggaaactattctctcttggtaaag
aacatccataatggagttagtgaaattgcctgtgacctggctgtgaacgaggatccagtt
gatagtaaccttcctgtgagcattgcattccttattggtcttgctgtcatcattgtgata
tcctttctgaggctcttgttgagtttggatgactttaacaattggatttctaaagccata
agttctcgagaaactgatcgcctcatcaattctgagctgggatctcccagcaggacagac
cctctcgatggtgatgttcagccagcaacgtggcgtctatctgccctgccgccccgcctc
cgcagcgtggacaccttcagggggattgctcttatactcatggtctttgtcaattatgga
ggaggaaaatattggtacttcaaacatgcaagttggaatgggctgacagtggctgacctc
gtgttcccgtggtttgtatttattatgggatcttccatttttctatcgatgacttctata
ctgcaacgggggtgttcaaaattcagattgctggggaagattgcatggaggagtttcctg
ttaatctgcataggaattatcattgtgaatcccaattattgccttggtccattgtcttgg
gacaaggtgcgcattcctggtgtgctgcagcgattgggagtgacatactttgtggttgct
gtgttggagctcctctttgctaaacctgtgcctgaacattgtgcctcggagaggagctgc
ctttctcttcgagacatcacgtccagctggccccagtggctgctcatcctggtgctggaa
ggcctgtggctgggcttgacattcctcctgccagtccctgggtgccctactggttatctt
ggtcctgggggcattggagattttggcaagtatccaaattgcactggaggagctgcaggc
tacatcgaccgcctgctgctgggagacgatcacctttaccagcacccatcttctgctgta
ctttaccacaccgaggtggcctatgaccccgagggcatcctgggcaccatcaactccatc
gtgatggcctttttaggagttcaggcaggaaaaatactattgtattacaaggctcggacc
aaagacatcctgattcgattcactgcttggtgttgtattcttgggctcatttctgttgct
ctgacgaaggtttctgaaaatgaaggctttattccagtaaacaaaaatctctggtccctt
tcgtatgtcactacgctcagttcttttgccttcttcatcctgctggtcctgtacccagtt
gtggatgtgaaggggctgtggacaggaaccccattcttttatccaggaatgaattccatt
ctggtatatgtcggccacgaggtgtttgagaactacttcccctttcagtggaagctgaag
gacaaccagtcccacaaggagcacctgactcagaacatcgtcgccactgccctctgggtg
ctcattgcctacatcctctatagaaagaagattttttggaaaatctga

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