KEGG   Homo sapiens (human): 138050
Entry
138050            CDS       T01001                                 
Symbol
HGSNAT, HGNAT, MPS3C, RP73, TMEM76
Name
(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
nt06012  Glycosaminoglycan degradation
  Element
N00615  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)
SSDB
Motif
Pfam: HGSNAT_cat DUF5009
Other DBs
NCBI-GeneID: 138050
NCBI-ProteinID: NP_689632
OMIM: 610453
HGNC: 26527
Ensembl: ENSG00000165102
UniProt: Q68CP4 Q8IVU6
Structure
Position
8:43140464..43202855
AA seq 635 aa
MSGAGRALAALLLAASVLSAALLAPGGSSGRDAQAAPPRDLDKKRHAELKMDQALLLIHN
ELLWTNLTVYWKSECCYHCLFQVLVNVPQSPKAGKPSAAAASVSTQHGSILQLNDTLEEK
EVCRLEYRFGEFGNYSLLVKNIHNGVSEIACDLAVNEDPVDSNLPVSIAFLIGLAVIIVI
SFLRLLLSLDDFNNWISKAISSRETDRLINSELGSPSRTDPLDGDVQPATWRLSALPPRL
RSVDTFRGIALILMVFVNYGGGKYWYFKHASWNGLTVADLVFPWFVFIMGSSIFLSMTSI
LQRGCSKFRLLGKIAWRSFLLICIGIIIVNPNYCLGPLSWDKVRIPGVLQRLGVTYFVVA
VLELLFAKPVPEHCASERSCLSLRDITSSWPQWLLILVLEGLWLGLTFLLPVPGCPTGYL
GPGGIGDFGKYPNCTGGAAGYIDRLLLGDDHLYQHPSSAVLYHTEVAYDPEGILGTINSI
VMAFLGVQAGKILLYYKARTKDILIRFTAWCCILGLISVALTKVSENEGFIPVNKNLWSL
SYVTTLSSFAFFILLVLYPVVDVKGLWTGTPFFYPGMNSILVYVGHEVFENYFPFQWKLK
DNQSHKEHLTQNIVATALWVLIAYILYRKKIFWKI
NT seq 1908 nt   +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

  All links  
Disease (3)   
   OMIM (3)   
Gene (17)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (15)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (51)   
   RefSeq(nuc) (13)   
   GenBank (19)   
   EMBL (19)   
3D Structure (12)   
   PDB (12)   
Protein domain (2)   
   Pfam (2)   
All databases (100)   

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