Property Summary

NCBI Gene PubMed Count 18
PubMed Score 33.42
PubTator Score 24.70

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis -1.200 0.001
osteosarcoma 2.701 0.000
astrocytoma 1.500 0.002
tuberculosis -1.300 0.000
lung cancer -1.500 0.012
subependymal giant cell astrocytoma 1.085 0.049
ovarian cancer 1.400 0.001

Synonym

Accession Q68CP4 B4E2V0
Symbols RP73
HGNAT
MPS3C
TMEM76

Gene

Gene RIF (11)

PMID Text
25859010 Mutation id HGSNAT is associated with non-syndromic retinitis pigmentosa .
21957468 Characterization of the biosynthesis, processing and kinetic mechanism of heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase
20825431 Identification of novel HGSNAT mutations in Sanfilippo syndrome type C Spanish patients.
20650889 intralysosomal oligomerization and proteolytic cleavage as two steps crucial for functional activation of HGSNAT.
20583299 Data suggests that mutations may function together to abolish HGSNAT activity.
19823584 HGSNAT misfolding may have a role in mucopolysaccharidosis III type C
18976975 Knockdown of heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells
18518886 three patients with mucopolysaccharidosis IIIC harbored two different mutations c.525dupT and c.372-2A-->G (Table 1), both of which were previously unreported
17397050 mutational analysis of HGSNAT in Italian Sanfilippo C syndrome patients resulted in identification of 9 alleles (8 novel)-- 3 splice-site mutations, 3 frameshift deletions resulting in premature stop codons, 1 nonsense mutation & 2 missense mutations
17033958 2.6-cM interval between D8S1051 and D8S1831 and identification of TMEM76, which encodes a 73-kDa protein with predicted multiple transmembrane domains and glycosylation sites, as the gene that causes MPS IIIC when it is mutated
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AA Sequence

MTGARASAAEQRRAGRSGQARAAERAAGMSGAGRALAALLLAASVLSAALLAPGGSSGRDAQAAPPRDLD      1 - 70
KKRHAELKMDQALLLIHNELLWTNLTVYWKSECCYHCLFQVLVNVPQSPKAGKPSAAAASVSTQHGSILQ     71 - 140
LNDTLEEKEVCRLEYRFGEFGNYSLLVKNIHNGVSEIACDLAVNEDPVDSNLPVSIAFLIGLAVIIVISF    141 - 210
LRLLLSLDDFNNWISKAISSRETDRLINSELGSPSRTDPLDGDVQPATWRLSALPPRLRSVDTFRGIALI    211 - 280
LMVFVNYGGGKYWYFKHASWNGLTVADLVFPWFVFIMGSSIFLSMTSILQRGCSKFRLLGKIAWRSFLLI    281 - 350
CIGIIIVNPNYCLGPLSWDKVRIPGVLQRLGVTYFVVAVLELLFAKPVPEHCASERSCLSLRDITSSWPQ    351 - 420
WLLILVLEGLWLGLTFLLPVPGCPTGYLGPGGIGDFGKYPNCTGGAAGYIDRLLLGDDHLYQHPSSAVLY    421 - 490
HTEVAYDPEGILGTINSIVMAFLGVQAGKILLYYKARTKDILIRFTAWCCILGLISVALTKVSENEGFIP    491 - 560
VNKNLWSLSYVTTLSSFAFFILLVLYPVVDVKGLWTGTPFFYPGMNSILVYVGHEVFENYFPFQWKLKDN    561 - 630
QSHKEHLTQNIVATALWVLIAYILYRKKIFWKI                                         631 - 663
//

Text Mined References (24)

PMID Year Title
25859010 2015 Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21957468 2011 Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC.
20825431 2011 Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
20650889 2010 Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC.
20583299 2010 Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19823584 2009 Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
19479962 2009 Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
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