• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.


RefSeq Accession Definition Services Price Order
NM_152419 Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA. ORF Sequence $553.32
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_152419.2, 150378451
Length 5228 bp
Structure linear
Update Date 20-APR-2013
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, Jan 2009].

RefSeq NP_689632.2
CDS 49..1956
Misc Feature(1)763..1953
Misc Feature(2)763..1953
Exon (1)1..166
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (2)167..282
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (3)283..419
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (4)420..541
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (5)542..611
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (6)612..681
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (7)682..791
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (8)792..868
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (9)869..899
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (10)900..1060
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (11)1061..1176
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (12)1177..1298
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (13)1299..1425
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (14)1426..1512
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (15)1513..1590
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (16)1591..1661
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (17)1662..1774
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Exon (18)1775..5214
Gene:HGSNAT
Gene Synonym:HGNAT; MPS3C; TMEM76
Translation MSGAGRALAALLLAASVLSAALLAPGGSSGRDAQAAPPRDLDKKRHAELKMDQALLLIHN ELLWTNLTVYWKSECCYHCLFQVLVNVPQSPKAGKPSAAAASVSTQHGSILQLNDTLEEK EVCRLEYRFGEFGNYSLLVKNIHNGVSEIACDLAVNEDPVDSNLPVSIAFLIGLAVIIVI SFLRLLLSLDDFNNWISKAISSRETDRLINSELGSPSRTDPLDGDVQPATWRLSALPPRL RSVDTFRGIALILMVFVNYGGGKYWYFKHASWNGLTVADLVFPWFVFIMGSSIFLSMTSI LQRGCSKFRLLGKIAWRSFLLICIGIIIVNPNYCLGPLSWDKVRIPGVLQRLGVTYFVVA VLELLFAKPVPEHCASERSCLSLRDITSSWPQWLLILVLEGLWLGLTFLLPVPGCPTGYL GPGGIGDFGKYPNCTGGAAGYIDRLLLGDDHLYQHPSSAVLYHTEVAYDPEGILGTINSI VMAFLGVQAGKILLYYKARTKDILIRFTAWCCILGLISVALTKVSENEGFIPVNKNLWSL SYVTTLSSFAFFILLVLYPVVDVKGLWTGTPFFYPGMNSILVYVGHEVFENYFPFQWKLK DNQSHKEHLTQNIVATALWVLIAYILYRKKIFWKI
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
223+dbSNP:
223+c, tdbSNP:200689598
252+c, tdbSNP:199816365
253+a, gdbSNP:202001245
376+dbSNP:
376+a, gdbSNP:138736400
390+c, tdbSNP:184883937
408+a, gdbSNP:200079240
667+dbSNP:
667+c, tdbSNP:199861011
668+a, gdbSNP:192297314
728+dbSNP:
728+a, tdbSNP:200505085
737+c, tdbSNP:200416815
774+a, cdbSNP:181728385
813+dbSNP:
813+c, tdbSNP:137963729
874+dbSNP:
874+a, gdbSNP:201952563
876+a, gdbSNP:182393180
896+c, tdbSNP:121908282
933+dbSNP:
933+a, gdbSNP:200637619
1001+a, gdbSNP:192561467
1010+g, tdbSNP:121908283
1078+dbSNP:
1078+c, tdbSNP:121908285
1193+dbSNP:
1193+c, gdbSNP:201735532
1285+c, tdbSNP:201346206
1298+c, tdbSNP:200750044
1309+dbSNP:
1309+g, tdbSNP:80227253
1320+c, tdbSNP:147251143
1360+a, gdbSNP:201901263
1481+dbSNP:
1481+a, gdbSNP:148467283
1493+a, tdbSNP:121908284
1543+dbSNP:
1543+c, tdbSNP:200238482
1601+dbSNP:
1601+c, tdbSNP:121908286
1615+a, cdbSNP:73569592
1635+c, gdbSNP:3208566
1741+dbSNP:
1741+c, gdbSNP:148632988
1797+dbSNP:
1797+a, gdbSNP:1126058
1800+c, tdbSNP:200678234
1807+a, gdbSNP:202128129
1888+a, gdbSNP:73675469
1891+a, gdbSNP:112029032
1928+a, gdbSNP:192857413
1933+a, cdbSNP:185367976
2045+g, tdbSNP:56304352
2062+a, gdbSNP:186881132
2105+g, tdbSNP:191719106
2351+c, tdbSNP:183455673
2433+a, gdbSNP:76878005
2487+c, tdbSNP:113974847
2541+c, tdbSNP:73675470
2642+c, tdbSNP:188131846
2689+g, tdbSNP:139144727
2773+c, tdbSNP:78952714
2807+a, gdbSNP:192792114
2813+c, tdbSNP:143991538
2827+a, cdbSNP:151315641
2924+c, tdbSNP:185491161
2968+g, tdbSNP:150029949
2995+c, tdbSNP:190730448
3031+a, gdbSNP:11787504
3042+c, gdbSNP:145370743
3079+a, gdbSNP:181523955
3093+c, tdbSNP:142422330
3168+c, tdbSNP:186132187
3172+a, gdbSNP:73569597
3187+a, gdbSNP:61743005
3211+c, tdbSNP:146650551
3242+c, tdbSNP:188504937
3269+a, gdbSNP:139141993
3516+c, tdbSNP:181278784
3548+c, tdbSNP:13251295
3554+c, gdbSNP:13249220
3555+g, tdbSNP:13249221
3736+c, tdbSNP:1058608
3757+a, gdbSNP:3739431
3758+c, gdbSNP:185869055
3898+a, gdbSNP:112626858
3975+a, tdbSNP:189792605
4024+a, gdbSNP:141499920
4156+a, gdbSNP:111392843
4214+a, gdbSNP:78930544
4222+g, tdbSNP:75120048
4238+a, gdbSNP:182955491
4243+a, gdbSNP:201656899
4297+a, gdbSNP:143662681
4437+c, tdbSNP:187064931
4494+a, gdbSNP:192349256
4499+g, tdbSNP:183248922
4599+a, gdbSNP:141803972
4609..4610+, tdbSNP:201717772
4696+c, tdbSNP:114940430
4711+c, tdbSNP:76686222
4723+c, tdbSNP:74762381
4758+c, gdbSNP:187372766
4865..4866+, adbSNP:143427852
4897+a, gdbSNP:150558733
4941+a, gdbSNP:62517634
4960+a, gdbSNP:192284706
4992+, tdbSNP:71954094
5024+g, tdbSNP:182490512
5132+a, gdbSNP:138613130
5169+a, tdbSNP:141634395
Gene SymbolHGSNAT
Gene SynonymHGNAT; MPS3C; TMEM76
Chromosome8
Locus Map8p11.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_152419 Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA. Full Length $2352.60
ORF Sequence $553.32
Title Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC .
Author Fan,X., Tkachyova,I., Sinha,A., Rigat,B. and Mahuran,D.
Journal PLoS ONE 6 (9), E24951 (2011)
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 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)

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.

Secured Online Quotation
Email: gene@genscript.com
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188
Fax: 1-732-210-0262 1-732-885-5878