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
Disease
H00130  Mucopolysaccharidosis type III (MPS3)
H00421  Mucopolysaccharidosis (MPS)
H00527  Retinitis pigmentosa (RP)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Glycan biosynthesis and metabolism
   00531 Glycosaminoglycan degradation
    138050 (HGSNAT)
 Cellular Processes
  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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