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Database:

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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_152419 Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

*Business Day

Related Services

RefSeq Version NM_152419.2, 150378451
Length 5228 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.
Product heparan-alpha-glucosaminide N-acetyltransferase precursor
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
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
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Position Chain Variation Link
193+dbSNP:
193+a, cdbSNP:372961495
223+c, tdbSNP:200689598
247+c, tdbSNP:376924663
252+c, tdbSNP:199816365
253+a, gdbSNP:202001245
266+c, tdbSNP:376344391
307+dbSNP:
307+a, gdbSNP:374287774
325+g, tdbSNP:368452647
326+c, tdbSNP:372055513
332+a, cdbSNP:374071098
365+a, gdbSNP:368082613
376+a, gdbSNP:138736400
380+c, tdbSNP:371296485
389+a, tdbSNP:375878873
390+c, tdbSNP:184883937
408+a, gdbSNP:200079240
509+dbSNP:
509+c, gdbSNP:373688314
516+c, tdbSNP:376382820
527+c, tdbSNP:369469113
541+c, tdbSNP:371273730
542+dbSNP:
542+a, cdbSNP:376173929
566+a, gdbSNP:370717845
590+c, gdbSNP:375238536
664+dbSNP:
664+a, gdbSNP:367799225
667+c, tdbSNP:199861011
668+a, gdbSNP:192297314
728+dbSNP:
728+a, tdbSNP:200505085
730+a, cdbSNP:369975831
737+c, tdbSNP:200416815
743+a, gdbSNP:371869844
759+a, gdbSNP:376484914
763+c, tdbSNP:369292480
774+a, cdbSNP:181728385
775+a, gdbSNP:373469974
813+dbSNP:
813+c, tdbSNP:137963729
825+c, tdbSNP:376365655
874+dbSNP:
874+a, gdbSNP:201952563
876+a, gdbSNP:182393180
896+c, tdbSNP:121908282
897+a, gdbSNP:368058038
933+dbSNP:
933+a, gdbSNP:200637619
935+c, tdbSNP:372933126
955+c, tdbSNP:375524490
956+a, gdbSNP:368646796
993+a, gdbSNP:371569367
1001+a, gdbSNP:192561467
1010+g, tdbSNP:121908283
1043+a, gdbSNP:374892647
1051+c, gdbSNP:369280586
1078+dbSNP:
1078+c, tdbSNP:121908285
1092+a, gdbSNP:374020825
1193+dbSNP:
1193+c, gdbSNP:201735532
1199+a, gdbSNP:377486419
1208+c, tdbSNP:370653879
1226+a, gdbSNP:374835349
1276+a, cdbSNP:367831580
1285+c, tdbSNP:201346206
1293+c, tdbSNP:375616017
1298+c, tdbSNP:200750044
complement(1309)-dbSNP:
complement(1309)-t, gdbSNP:80227253
1320+c, tdbSNP:147251143
1345+a, gdbSNP:371469177
1360+a, gdbSNP:201901263
1407+c, tdbSNP:376647117
1451+dbSNP:
1451+a, gdbSNP:370314091
1481+a, gdbSNP:148467283
1493+a, tdbSNP:121908284
1536+dbSNP:
1536+c, tdbSNP:371042202
1543+c, tdbSNP:200238482
1601+dbSNP:
1601+c, tdbSNP:121908286
1607+c, tdbSNP:374619489
1615+a, cdbSNP:73569592
1629+a, tdbSNP:371671597
1635+c, gdbSNP:3208566
1642+c, tdbSNP:374940094
1671+dbSNP:
1671+a, gdbSNP:372909374
1682+c, tdbSNP:377050184
1719+a, gdbSNP:369681926
1741+c, gdbSNP:148632988
complement(1797)-dbSNP:
complement(1797)-g, adbSNP:1126058
1797+c, tdbSNP:386517918
1800+c, tdbSNP:200678234
1801+a, gdbSNP:376476836
1807+a, gdbSNP:202128129
1827+c, tdbSNP:374463372
1884+c, tdbSNP:367648422
1888+a, gdbSNP:73675469
1890+c, tdbSNP:374563604
1891+a, gdbSNP:112029032
1900+c, gdbSNP:372240719
1928+a, gdbSNP:192857413
1933+a, cdbSNP:185367976
1971+a, gdbSNP:372810932
2045+g, tdbSNP:56304352
2062+a, gdbSNP:186881132
2105+g, tdbSNP:191719106
2351+c, tdbSNP:183455673
2364+a, gdbSNP:375850825
2433+a, gdbSNP:76878005
2487+c, tdbSNP:113974847
2541+c, tdbSNP:73675470
2556+c, gdbSNP:377372501
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
3263+a, tdbSNP:370753116
3269+a, gdbSNP:139141993
3392+a, gdbSNP:373032953
3516+c, tdbSNP:181278784
3548+c, tdbSNP:13251295
3554+c, gdbSNP:13249220
3555+g, tdbSNP:13249221
3736+c, tdbSNP:1058608
complement(3757)-g, adbSNP:3739431
3758+c, gdbSNP:185869055
3774+a, tdbSNP:371440307
3898+a, gdbSNP:112626858
3928+c, gdbSNP:373822575
3975+a, tdbSNP:189792605
4024+a, gdbSNP:141499920
4156+a, gdbSNP:111392843
4189+a, gdbSNP:372413542
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
4716+c, tdbSNP:367680471
4723+c, tdbSNP:74762381
4758+c, gdbSNP:187372766
4865..4866+, adbSNP:143427852
4897+a, gdbSNP:150558733
4941+a, gdbSNP:62517634
4960+a, gdbSNP:192284706
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 Stock Status Price Turnaround time Business Day Select
NM_152419 Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA. On-demand TBD TBD
XM_005273409 PREDICTED: Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), transcript variant X1, mRNA. On-demand TBD TBD
XM_005273410 PREDICTED: Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), transcript variant X2, mRNA. On-demand TBD TBD
XM_005273411 PREDICTED: Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), transcript variant X3, mRNA. On-demand TBD TBD
XM_005273412 PREDICTED: Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), transcript variant X4, mRNA. On-demand TBD TBD
Title Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles .
Author Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, Sefiani A, Chabas A, Coll MJ, Grinberg D and Vilageliu L.
Journal Clin. Genet. 80 (4), 367-374 (2011)
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 AV.
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 AO and Hopwood JJ.
Journal Hum. Mutat. 31 (7), E1574-E1586 (2010)
Title Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C .
Author Feldhammer M, Durand S and Pshezhetsky AV.
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 AO, Filocamo M, Di Rocco M, Sersale G, Lubke T, di Natale P, Cosma MP 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 NM, 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 CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S and Pshezhetsky AV.
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 RD, Tropak MB, Callahan JW and Mahuran DJ.
Journal Am. J. Hum. Genet. 79 (4), 738-744 (2006)
Title DNA sequence and analysis of human chromosome 8 .
Author Nusbaum C, Mikkelsen TS, Zody MC, Asakawa S, Taudien S, Garber M, Kodira CD, Schueler MG, Shimizu A, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Allen NR, Anderson S, Asakawa T, Blechschmidt K, Bloom T, Borowsky ML, Butler J, Cook A, Corum B, DeArellano K, DeCaprio D, Dooley KT, Dorris L 3rd, Engels R, Glockner G, Hafez N, Hagopian DS, Hall JL, Ishikawa SK, Jaffe DB, Kamat A, Kudoh J, Lehmann R, Lokitsang T, Macdonald P, Major JE, Matthews CD, Mauceli E, Menzel U, Mihalev AH, Minoshima S, Murayama Y, Naylor JW, Nicol R, Nguyen C, O'Leary SB, O'Neill K, Parker SC, Polley A, Raymond CK, Reichwald K, Rodriguez J, Sasaki T, Schilhabel M, Siddiqui R, Smith CL, Sneddon TP, Talamas JA, Tenzin P, Topham K, Venkataraman V, Wen G, Yamazaki S, Young SK, Zeng Q, Zimmer AR, Rosenthal A, Birren BW, Platzer M, Shimizu N and Lander ES.
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 JC, Verner A, Darmond-Zwaig C, Maire I, Poorthuis B, van Diggelen OP, Hudson TJ, Fujiwara TM, Morgan K and Pshezhetsky AV.
Journal J. Med. Genet. 41 (12), 941-945 (2004)

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