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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001085428 Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

Related Services

RefSeq Version NM_001085428.2, 313569798
Length 3935 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.
Product arylsulfatase A isoform b
Comment

Summary: The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010].


Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_001078897.1
CDS 263..1534
Misc Feature(1)179..181
Misc Feature(2)263..1333
Misc Feature(3)263..1333
Misc Feature(4)<287..1048
Misc Feature(5)1112..1516
Exon (1)1..228
Gene:ARSA
Gene Synonym:MLD
Exon (2)229..469
Gene:ARSA
Gene Synonym:MLD
Exon (3)470..688
Gene:ARSA
Gene Synonym:MLD
Exon (4)689..858
Gene:ARSA
Gene Synonym:MLD
Exon (5)859..983
Gene:ARSA
Gene Synonym:MLD
Exon (6)984..1111
Gene:ARSA
Gene Synonym:MLD
Exon (7)1112..1214
Gene:ARSA
Gene Synonym:MLD
Exon (8)1215..3925
Gene:ARSA
Gene Synonym:MLD
Translation MGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRF LGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAF AHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTA IGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAP GVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVR GVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGG VAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPD PHA
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Position Chain Variation Link
50+dbSNP:
50+c, gdbSNP:6151406
complement(89)-g, adbSNP:188227227
94+c, gdbSNP:1051539
complement(219)-g, adbSNP:184511547
complement(232)-dbSNP:
complement(232)-g, adbSNP:371930403
237+c, tdbSNP:199476362
complement(247)-t, cdbSNP:6151410
complement(255)-t, cdbSNP:6151411
260+c, tdbSNP:199476352
261+a, gdbSNP:74315458
267+a, gdbSNP:74315460
290+c, gdbSNP:199476353
294+a, gdbSNP:199476363
296..297+ct, tcdbSNP:199476371
297+c, tdbSNP:74315456
306+a, g, tdbSNP:74315455
365+a, gdbSNP:199476364
374+a, gdbSNP:74315461
414+c, tdbSNP:121434215
complement(416)-g, c, adbSNP:60504011
417+c, tdbSNP:74315462
complement(421)-g, adbSNP:375898040
422+c, gdbSNP:199476358
437+c, gdbSNP:199476373
453+c, tdbSNP:199476375
complement(463)-t, cdbSNP:6151412
464+g, tdbSNP:199476365
469+c, gdbSNP:199476377
471+dbSNP:
471+a, gdbSNP:74315463
474+c, g, tdbSNP:74315464
476+c, tdbSNP:199476348
complement(499)-t, cdbSNP:145299072
510+c, gdbSNP:74315465
515+a, gdbSNP:74315466
518+a, gdbSNP:74315271
525+a, gdbSNP:199476381
546+g, tdbSNP:74315457
552+a, tdbSNP:199476378
complement(568)-g, adbSNP:113209108
complement(577)-t, cdbSNP:376834935
580+c, gdbSNP:199476372
581+a, cdbSNP:199476374
complement(586)-g, adbSNP:372532763
587+, tdbSNP:398123416
complement(589)-t, gdbSNP:6151415
complement(595)-g, adbSNP:34457249
complement(596)-t, cdbSNP:144393886
complement(605)-c, adbSNP:377625311
complement(608)-g, adbSNP:374482942
complement(609)-t, cdbSNP:201794808
612+a, gdbSNP:199476345
complement(622)-g, adbSNP:370296376
complement(623)-t, cdbSNP:62001867
complement(627)-t, cdbSNP:150533665
complement(628)-g, adbSNP:113990230
complement(640)-g, adbSNP:200182983
complement(641)-t, cdbSNP:369786038
644+a, c, gdbSNP:199476341
645+c, tdbSNP:74315467
complement(646)-g, adbSNP:372713506
complement(660)-t, cdbSNP:148403406
complement(662)-t, gdbSNP:146173768
complement(663)-g, adbSNP:201251634
665+g, tdbSNP:199476383
681+c, tdbSNP:74315468
complement(684)-g, cdbSNP:138468395
689+dbSNP:
689+c, tdbSNP:199476354
701+a, cdbSNP:74315469
complement(709)-g, adbSNP:371985225
complement(731)-g, adbSNP:369593442
complement(732)-t, cdbSNP:142142638
740+c, tdbSNP:74315470
741+a, gdbSNP:199476366
743+a, gdbSNP:74315471
750+c, tdbSNP:199476384
759+a, cdbSNP:199476367
762..763+, tdbSNP:74315270
767+a, gdbSNP:74315483
complement(769)-g, cdbSNP:372250391
773+c, gdbSNP:80338819
complement(784)-g, cdbSNP:368769871
complement(785)-t, cdbSNP:138850940
complement(793)-g, cdbSNP:374494502
complement(807)-c, adbSNP:201470165
complement(824)-t, cdbSNP:371515553
complement(827)-t, cdbSNP:367602734
complement(830)-t, adbSNP:140966324
831+c, tdbSNP:74315472
complement(832)-t, cdbSNP:370585019
851+g, tdbSNP:199476386
855+a, gdbSNP:199476342
complement(862)-dbSNP:
complement(862)-g, adbSNP:370962514
866+a, cdbSNP:28940894
872+c, tdbSNP:74315473
873+a, gdbSNP:199476355
complement(882)-t, cdbSNP:373866455
887+a, gdbSNP:199476349
888+a, gdbSNP:199476387
891+a, gdbSNP:199476347
894+a, cdbSNP:74315474
complement(897)-c, adbSNP:200082546
903+c, tdbSNP:199476389
909+g, tdbSNP:74315484
916+c, gdbSNP:199476343
921+c, tdbSNP:199476359
complement(922)-g, cdbSNP:370250328
926+c, tdbSNP:199476379
929+a, gdbSNP:199476360
933+a, g, tdbSNP:199476356
935+a, gdbSNP:74315459
942+a, gdbSNP:199476382
946+g, tdbSNP:199476390
950+a, gdbSNP:199476368
complement(976)-g, adbSNP:200567315
complement(983)-t, cdbSNP:148092995
complement(986)-dbSNP:
complement(986)-t, cdbSNP:143994992
990+c, tdbSNP:398123418
995+g, tdbSNP:398123419
complement(1003)-g, adbSNP:374063562
complement(1006)-g, adbSNP:147027229
1014+a, tdbSNP:74315475
complement(1032)-g, adbSNP:376451746
1059+a, gdbSNP:2071421
complement(1076)-t, gdbSNP:6151422
complement(1110)-t, gdbSNP:200901626
1111+c, gdbSNP:199476369
1118+dbSNP:
1118+c, tdbSNP:74315476
1119+a, gdbSNP:74315477
complement(1122)-t, cdbSNP:369543471
1129..1130+, ctdbSNP:398123412
1136+a, tdbSNP:199476344
1140+a, c, tdbSNP:74315478
complement(1141)-t, cdbSNP:372869650
1154+a, gdbSNP:74315479
complement(1159)-g, adbSNP:149088203
1160+c, tdbSNP:199476370
1178+c, tdbSNP:74315480
1179+a, gdbSNP:199476391
complement(1182)-g, cdbSNP:743616
complement(1184)-t, cdbSNP:373219209
1199+c, tdbSNP:199476376
complement(1210)-g, adbSNP:369490134
1226+dbSNP:
1226+a, gdbSNP:199476361
1236+c, tdbSNP:74315481
complement(1255)-g, adbSNP:140158705
complement(1256)-t, cdbSNP:377610043
complement(1262)-t, gdbSNP:139073195
complement(1281)-t, cdbSNP:376220189
1283+a, cdbSNP:74315485
complement(1287)-g, adbSNP:386576656
complement(1288)-t, cdbSNP:143139801
1293+c, tdbSNP:199476392
1296+a, cdbSNP:199476380
1298+g, tdbSNP:74315267
complement(1301)-g, cdbSNP:201693608
1310+a, gdbSNP:74315269
complement(1329)-g, adbSNP:6151427
complement(1329)-g, adbSNP:386601777
complement(1349)-t, cdbSNP:117341984
complement(1373)-t, cdbSNP:146391395
1411..1421+, cgcagctgtgadbSNP:80338823
1416+c, gdbSNP:199476385
complement(1448)-t, cdbSNP:377717242
complement(1451)-t, cdbSNP:148352371
1466+c, tdbSNP:74315482
1475+g, tdbSNP:199476388
complement(1484)-t, cdbSNP:144323513
complement(1491)-g, adbSNP:201085386
complement(1497)-t, g, adbSNP:6151428
complement(1536)-t, cdbSNP:201846218
complement(1549)-t, cdbSNP:377187248
1630+a, gdbSNP:6151429
complement(1630)-t, cdbSNP:386601778
complement(1637)-g, adbSNP:146160737
complement(1699)-t, cdbSNP:144366706
complement(1778)-g, adbSNP:139724334
complement(1785)-t, cdbSNP:150845594
complement(1867)-t, cdbSNP:376145489
complement(1874)-t, adbSNP:5741862
complement(1876)-t, cdbSNP:182635438
complement(2037)-t, cdbSNP:141494339
complement(2169)-t, cdbSNP:5770953
complement(2216)-g, cdbSNP:7288338
complement(2263)-g, adbSNP:191335867
complement(2264)-t, cdbSNP:148714527
complement(2275)-g, adbSNP:8142033
complement(2311)-g, cdbSNP:115593886
complement(2318)-g, adbSNP:377653996
complement(2334)-g, adbSNP:185687558
complement(2372)-g, adbSNP:181688569
complement(2389)-t, cdbSNP:7288050
complement(2453)-t, cdbSNP:5770805
complement(2467)-t, cdbSNP:190569857
complement(2526)-t, cdbSNP:376910590
complement(2607)-t, cdbSNP:185955658
complement(2610)-t, adbSNP:114833506
complement(2712)-g, cdbSNP:373166731
2749..2780+, ttttttttttttttttttttttttttttttttdbSNP:131716
complement(2749)-c, adbSNP:145604351
complement(2750)-t, adbSNP:143372047
complement(2766)-c, adbSNP:111495898
complement(2772)-c, adbSNP:6010033
complement(2820)-c, adbSNP:35519140
complement(2856)-t, cdbSNP:182142919
2885+c, gdbSNP:131717
complement(2903)-g, adbSNP:76841085
complement(2906)-t, cdbSNP:190478606
complement(2939)-t, adbSNP:6010032
complement(3000)-c, adbSNP:34969940
complement(3004)-g, adbSNP:8137818
complement(3009)-g, adbSNP:184515588
complement(3010)-t, cdbSNP:8142531
complement(3025)-t, adbSNP:369110718
complement(3042)-c, adbSNP:35005618
complement(3044)-c, adbSNP:34367180
complement(3056)-t, gdbSNP:6009939
complement(3090)-t, cdbSNP:374960048
complement(3104)-g, adbSNP:79823940
complement(3136)-g, cdbSNP:180894081
complement(3153)-g, adbSNP:188667066
complement(3248)-t, cdbSNP:183937648
complement(3280)-t, cdbSNP:73172277
complement(3303)-t, cdbSNP:56788262
complement(3324)-t, adbSNP:7290199
complement(3337)-g, cdbSNP:191548826
complement(3339)-g, adbSNP:201842530
complement(3483)-g, adbSNP:142795679
complement(3567..3568)-, gdbSNP:36019124
complement(3572)-t, cdbSNP:138604864
complement(3587..3588)-, gdbSNP:34290947
complement(3596)-g, adbSNP:375820158
complement(3793)-t, cdbSNP:187444411
complement(3850)-g, adbSNP:117951552
complement(3908)-t, gdbSNP:11704557
Gene SymbolARSA
Gene SynonymMLD
Chromosome22
Locus Map22q13.33
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000487 Homo sapiens arylsulfatase A (ARSA), transcript variant 1, mRNA. On-demand $699.00 18
NM_001085426 Homo sapiens arylsulfatase A (ARSA), transcript variant 3, mRNA. On-demand $699.00 18
NM_001085427 Homo sapiens arylsulfatase A (ARSA), transcript variant 4, mRNA. On-demand $699.00 18
NM_001085425 Homo sapiens arylsulfatase A (ARSA), transcript variant 2, mRNA. On-demand $699.00 18
NM_001085428 Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA. On-demand $699.00 18
XM_006724414 PREDICTED: Homo sapiens arylsulfatase A (ARSA), transcript variant X1, mRNA. On-demand $699.00 18
Title Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy .
Author Luzi P, Rafi MA, Rao HZ and Wenger DA.
Journal Gene 530 (2), 323-328 (2013)
Title Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease .
Author Sabater-Lleal M, Huang J, Chasman D, Naitza S, Dehghan A, Johnson AD, Teumer A, Reiner AP, Folkersen L, Basu S, Rudnicka AR, Trompet S, Malarstig A, Baumert J, Bis JC, Guo X, Hottenga JJ, Shin SY, Lopez LM, Lahti J, Tanaka T, Yanek LR, Oudot-Mellakh T, Wilson JF, Navarro P, Huffman JE, Zemunik T, Redline S, Mehra R, Pulanic D, Rudan I, Wright AF, Kolcic I, Polasek O, Wild SH, Campbell H, Curb JD, Wallace R, Liu S, Eaton CB, Becker DM, Becker LC, Bandinelli S, Raikkonen K, Widen E, Palotie A, Fornage M, Green D, Gross M, Davies G, Harris SE, Liewald DC, Starr JM, Williams FM, Grant PJ, Spector TD, Strawbridge RJ, Silveira A, Sennblad B, Rivadeneira F, Uitterlinden AG, Franco OH, Hofman A, van Dongen J, Willemsen G, Boomsma DI, Yao J, Swords Jenny N, Haritunians T, McKnight B, Lumley T, Taylor KD, Rotter JI, Psaty BM, Peters A, Gieger C, Illig T, Grotevendt A, Homuth G, Volzke H, Kocher T, Goel A, Franzosi MG, Seedorf U, Clarke R, Steri M, Tarasov KV, Sanna S, Schlessinger D, Stott DJ, Sattar N, Buckley BM, Rumley A, Lowe GD, McArdle WL, Chen MH, Tofler GH, Song J, Boerwinkle E, Folsom AR, Rose LM, Franco-Cereceda A, Teichert M, Ikram MA, Mosley TH, Bevan S, Dichgans M, Rothwell PM, Sudlow CL, Hopewell JC, Chambers JC, Saleheen D, Kooner JS, Danesh J, Nelson CP, Erdmann J, Reilly MP, Kathiresan S, Schunkert H, Morange PE, Ferrucci L, Eriksson JG, Jacobs D, Deary IJ, Soranzo N, Witteman JC, de Geus EJ, Tracy RP, Hayward C, Koenig W, Cucca F, Jukema JW, Eriksson P, Seshadri S, Markus HS, Watkins H, Samani NJ, Wallaschofski H, Smith NL, Tregouet D, Ridker PM, Tang W, Strachan DP, Hamsten A and O'Donnell CJ.
Journal Circulation 128 (12), 1310-1324 (2013)
Title Arylsulphatase A activity in human endometrial polyps inversely correlates with aging .
Author Indraccolo,U., Matteo,M., Greco,P. and Indraccolo,S.R.
Journal Minerva Ginecol 65 (3), 361-362 (2013)
Title Investigation of the mechanisms by which the molecular chaperone HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition .
Author Redgrove KA, Anderson AL, McLaughlin EA, O'Bryan MK, Aitken RJ and Nixon B.
Journal Mol. Hum. Reprod. 19 (3), 120-135 (2013)
Title The molecular chaperone HSPA2 plays a key role in regulating the expression of sperm surface receptors that mediate sperm-egg recognition .
Author Redgrove KA, Nixon B, Baker MA, Hetherington L, Baker G, Liu DY and Aitken RJ.
Journal PLoS ONE 7 (11), E50851 (2012)
Title Arylsulfatase A Deficiency .
Author Fluharty,A.L.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Proteolytic processing of human lysosomal arylsulfatase A .
Author Fujii T, Kobayashi T, Honke K, Gasa S, Ishikawa M, Shimizu T and Makita A.
Journal Biochim. Biophys. Acta 1122 (1), 93-98 (1992)
Title Terminal 22q deletion associated with a partial deficiency of arylsulphatase A .
Author Narahara K, Takahashi Y, Murakami M, Tsuji K, Yokoyama Y, Murakami R, Ninomiya S and Seino Y.
Journal J. Med. Genet. 29 (6), 432-433 (1992)
Title Late-onset metachromatic leukodystrophy: molecular pathology in two siblings .
Author Kappler J, von Figura K and Gieselmann V.
Journal Ann. Neurol. 31 (3), 256-261 (1992)
Title Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B .
Author DeLuca,C., Brown,J.A. and Shows,T.B.
Journal Proc. Natl. Acad. Sci. U.S.A. 76 (4), 1957-1961 (1979)

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