Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.
| RefSeq Version | NM_152419.2, 150378451 |
| Length | 5228 bp |
| Structure | linear |
| Update Date | 14-NOV-2010 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA. |
| Product | heparan-alpha-glucosaminide N-acetyltransferase |
| Comment | Summary: This 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]. COMPLETENESS: complete on the 3' end. |
| RefSeq | NP_689632.2 |
| CDS | 49..1956 | Exon (1) | 1..166 | Exon (2) | 1..166 | Exon (3) | 167..282 | Exon (4) | 283..419 | Exon (5) | 420..541 | Exon (6) | 542..611 | Exon (7) | 612..681 | Exon (8) | 682..791 | Exon (9) | 792..868 | Exon (10) | 869..899 | Exon (11) | 900..1060 | Exon (12) | 1061..1176 | Exon (13) | 1177..1298 | Exon (14) | 1299..1425 | Exon (15) | 1426..1512 | Exon (16) | 1513..1590 | Exon (17) | 1591..1661 | Exon (18) | 1662..1774 | Exon (19) | 1775..5214 |
| Translation | MSGAGRALAALLLAASVLSAALLAPGGSSGRDAQAAPPRDLDKKRHAELKMDQALLLIHN
ELLWTNLTVYWKSECCYHCLFQVLVNVPQSPKAGKPSAAAASVSTQHGSILQLNDTLEEK
EVCRLEYRFGEFGNYSLLVKNIHNGVSEIACDLAVNEDPVDSNLPVSIAFLIGLAVIIVI
SFLRLLLSLDDFNNWISKAISSRETDRLINSELGSPSRTDPLDGDVQPATWRLSALPPRL
RSVDTFRGIALILMVFVNYGGGKYWYFKHASWNGLTVADLVFPWFVFIMGSSIFLSMTSI
LQRGCSKFRLLGKIAWRSFLLICIGIIIVNPNYCLGPLSWDKVRIPGVLQRLGVTYFVVA
VLELLFAKPVPEHCASERSCLSLRDITSSWPQWLLILVLEGLWLGLTFLLPVPGCPTGYL
GPGGIGDFGKYPNCTGGAAGYIDRLLLGDDHLYQHPSSAVLYHTEVAYDPEGILGTINSI
VMAFLGVQAGKILLYYKARTKDILIRFTAWCCILGLISVALTKVSENEGFIPVNKNLWSL
SYVTTLSSFAFFILLVLYPVVDVKGLWTGTPFFYPGMNSILVYVGHEVFENYFPFQWKLK
DNQSHKEHLTQNIVATALWVLIAYILYRKKIFWKI
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| Position | Chain | Variation | Link |
| 876 | + | a, g | dbSNP:78287843 |
| 896 | + | c, t | dbSNP:121908282 |
| 1010 | + | g, t | dbSNP:121908283 |
| 1078 | + | c, t | dbSNP:121908285 |
| 1309 | + | g, t | dbSNP:80227253 |
| 1493 | + | a, t | dbSNP:121908284 |
| 1601 | + | c, t | dbSNP:121908286 |
| 1615 | + | a, c | dbSNP:73569592 |
| 1635 | + | c, g | dbSNP:3208566 |
| complement(1797) | - | g, a | dbSNP:1126058 |
| 1888 | + | a, g | dbSNP:73675469 |
| 1891 | + | a, g | dbSNP:112029032 |
| 2045 | + | g, t | dbSNP:56304352 |
| 2433 | + | a, g | dbSNP:76878005 |
| 2487 | + | c, t | dbSNP:113974847 |
| 2541 | + | c, t | dbSNP:73675470 |
| 2685 | + | g, t | dbSNP:114346001 |
| 2690 | + | a, g | dbSNP:115493530 |
| 2773 | + | c, t | dbSNP:78952714 |
| 3031 | + | a, g | dbSNP:11787504 |
| 3172 | + | a, g | dbSNP:73569597 |
| 3187 | + | a, g | dbSNP:61743005 |
| 3548 | + | c, t | dbSNP:13251295 |
| 3554 | + | c, g | dbSNP:13249220 |
| 3555 | + | g, t | dbSNP:13249221 |
| 3736 | + | c, t | dbSNP:1058608 |
| complement(3757) | - | g, a | dbSNP:3739431 |
| 3898 | + | a, g | dbSNP:112626858 |
| 4156 | + | a, g | dbSNP:111392843 |
| 4214 | + | a, g | dbSNP:78930544 |
| 4222 | + | g, t | dbSNP:75120048 |
| 4696 | + | c, t | dbSNP:114940430 |
| 4711 | + | c, t | dbSNP:76686222 |
| 4723 | + | c, t | dbSNP:74762381 |
| 4941 | + | a, g | dbSNP:62517634 |
| 5000 | + | , t | dbSNP:71954094 |
| Gene Symbol | HGSNAT |
| Gene Synonym | DKFZp686G24175; FLJ22242; FLJ32731; HGNAT; MPS3C; TMEM76 |
| Chromosome | 8 |
| Locus Map | 8p11.1 |
| All Transcripts | NM_152419 |
| Title | 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 . |
| Author | Durand,S., Feldhammer,M., Bonneil,E., Thibault,P. and Pshezhetsky,A.V. |
| Journal | J. Biol. Chem. 285 (41), 31233-31242 (2010) |
| Title | Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) . |
| Author | Fedele,A.O. and Hopwood,J.J. |
| Journal | Hum. Mutat. 31 (7), E1574-E1586 (2010) |
| Title | Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene . |
| Author | Feldhammer,M., Durand,S., Mrazova,L., Boucher,R.M., Laframboise,R., Steinfeld,R., Wraith,J.E., Michelakakis,H., van Diggelen,O.P., Hrebicek,M., Kmoch,S. and Pshezhetsky,A.V. |
| Journal | Hum. Mutat. 30 (6), 918-925 (2009) |
| Title | Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C . |
| Author | Feldhammer,M., Durand,S. and Pshezhetsky,A.V. |
| Journal | PLoS ONE 4 (10), E7434 (2009) |
| Title | Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene . |
| Author | Coutinho,M.F., Lacerda,L., Prata,M.J., Ribeiro,H., Lopes,L., Ferreira,C. and Alves,S. |
| Journal | Clin. Genet. 74 (2), 194-195 (2008) |
| Title | Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online . |
| Author | Fedele,A.O., Filocamo,M., Di Rocco,M., Sersale,G., Lubke,T., di Natale,P., Cosma,M.P. and Ballabio,A. |
| Journal | Hum. Mutat. 28 (5), 523 (2007) |
| Title | Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome) . |
| Author | Hrebicek,M., Mrazova,L., Seyrantepe,V., Durand,S., Roslin,N.M., Noskova,L., Hartmannova,H., Ivanek,R., Cizkova,A., Poupetova,H., Sikora,J., Urinovska,J., Stranecky,V., Zeman,J., Lepage,P., Roquis,D., Verner,A., Ausseil,J., Beesley,C.E., Maire,I., Poorthuis,B.J., van de Kamp,J., van Diggelen,O.P., Wevers,R.A., Hudson,T.J., Fujiwara,T.M., Majewski,J., Morgan,K., Kmoch,S. and Pshezhetsky,A.V. |
| Journal | Am. J. Hum. Genet. 79 (5), 807-819 (2006) |
| Title | Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C) . |
| Author | Fan,X., Zhang,H., Zhang,S., Bagshaw,R.D., Tropak,M.B., Callahan,J.W. and Mahuran,D.J. |
| Journal | Am. J. Hum. Genet. 79 (4), 738-744 (2006) |
| Title | DNA sequence and analysis of human chromosome 8 . |
| Author | Nusbaum,C., Mikkelsen,T.S., Zody,M.C., Asakawa,S., Taudien,S., Garber,M., Kodira,C.D., Schueler,M.G., Shimizu,A., Whittaker,C.A., Chang,J.L., Cuomo,C.A., Dewar,K., FitzGerald,M.G., Yang,X., Allen,N.R., Anderson,S., Asakawa,T., Blechschmidt,K., Bloom,T., Borowsky,M.L., Butler,J., Cook,A., Corum,B., DeArellano,K., DeCaprio,D., Dooley,K.T., Dorris,L. III, Engels,R., Glockner,G., Hafez,N., Hagopian,D.S., Hall,J.L., Ishikawa,S.K., Jaffe,D.B., Kamat,A., Kudoh,J., Lehmann,R., Lokitsang,T., Macdonald,P., Major,J.E., Matthews,C.D., Mauceli,E., Menzel,U., Mihalev,A.H., Minoshima,S., Murayama,Y., Naylor,J.W., Nicol,R., Nguyen,C., O'Leary,S.B., O'Neill,K., Parker,S.C., Polley,A., Raymond,C.K., Reichwald,K., Rodriguez,J., Sasaki,T., Schilhabel,M., Siddiqui,R., Smith,C.L., Sneddon,T.P., Talamas,J.A., Tenzin,P., Topham,K., Venkataraman,V., Wen,G., Yamazaki,S., Young,S.K., Zeng,Q., Zimmer,A.R., Rosenthal,A., Birren,B.W., Platzer,M., Shimizu,N. and Lander,E.S. |
| Journal | Nature 439 (7074), 331-335 (2006) |
| Title | Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8 . |
| Author | Ausseil,J., Loredo-Osti,J.C., Verner,A., Darmond-Zwaig,C., Maire,I., Poorthuis,B., van Diggelen,O.P., Hudson,T.J., Fujiwara,T.M., Morgan,K. and Pshezhetsky,A.V. |
| Journal | J. Med. Genet. 41 (12), 941-945 (2004) |
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