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MGP006548

Record overview

MGPD IDMGP006548
Gene ID138050
SpeciesHomo sapiens (Human)
Gene Nameheparan-alpha-glucosaminide N-acetyltransferase
Gene Symbol HGSNAT
SynonymsHGNAT; MPS3C; TMEM76;
Alternate namesheparan-alpha-glucosaminide N-acetyltransferase; transmembrane protein 76;
Chromosome8
Map Location8p11.1
EC Number2.3.1.78
SummaryThis gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
OrthologsView orthologs and multiple alignments for HGSNAT

Proteins

heparan-alpha-glucosaminide N-acetyltransferase precursor
Refseq ID:NP_689632
Protein GI:150378452
UniProt ID:Q68CP4
mRNA ID:NM_152419
Length:635
RefSeq Status:
MSGAGRALAALLLAASVLSAALLAPGGSSGRDAQAAPPRDLDKKRHAELKMDQALLLIHNELLWTNLTVYWKSECCYHCLFQVLVNVPQSPKAGKPSAAA
ASVSTQHGSILQLNDTLEEKEVCRLEYRFGEFGNYSLLVKNIHNGVSEIACDLAVNEDPVDSNLPVSIAFLIGLAVIIVISFLRLLLSLDDFNNWISKAI
SSRETDRLINSELGSPSRTDPLDGDVQPATWRLSALPPRLRSVDTFRGIALILMVFVNYGGGKYWYFKHASWNGLTVADLVFPWFVFIMGSSIFLSMTSI
LQRGCSKFRLLGKIAWRSFLLICIGIIIVNPNYCLGPLSWDKVRIPGVLQRLGVTYFVVAVLELLFAKPVPEHCASERSCLSLRDITSSWPQWLLILVLE
GLWLGLTFLLPVPGCPTGYLGPGGIGDFGKYPNCTGGAAGYIDRLLLGDDHLYQHPSSAVLYHTEVAYDPEGILGTINSIVMAFLGVQAGKILLYYKART
KDILIRFTAWCCILGLISVALTKVSENEGFIPVNKNLWSLSYVTTLSSFAFFILLVLYPVVDVKGLWTGTPFFYPGMNSILVYVGHEVFENYFPFQWKLK
DNQSHKEHLTQNIVATALWVLIAYILYRKKIFWKI
 
sig_peptide: 1..19
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1772
peptide sequence: 
MSGAGRALAALLLAASVLS
 
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