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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 2, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18347 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu18347C Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 2, mRNA. Customized vector On-demand $269.00 7-9

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000047.2, 157266308
Length 1770 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 2, mRNA.
Product arylsulfatase E isoform 2 precursor
Comment

Summary: Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013].


Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

RefSeq NP_000038.2
CDS 251..2020
Misc Feature(1)89..91
Misc Feature(2)350..1846
Misc Feature(3)362..1519
Misc Feature(4)1592..1996
Exon (1)1..230
Gene:ARSE
Gene Synonym:ASE; CDPX; CDPX1; CDPXR
Exon (2)231..273
Gene:ARSE
Gene Synonym:ASE; CDPX; CDPX1; CDPXR
Exon (3)274..435
Gene:ARSE
Gene Synonym:ASE; CDPX; CDPX1; CDPXR
Exon (4)436..557
Gene:ARSE
Gene Synonym:ASE; CDPX; CDPX1; CDPXR
Exon (5)558..680
Gene:ARSE
Gene Synonym:ASE; CDPX; CDPX1; CDPXR
Exon (6)681..1104
Gene:ARSE
Gene Synonym:ASE; CDPX; CDPX1; CDPXR
Exon (7)1105..1241
Gene:ARSE
Gene Synonym:ASE; CDPX; CDPX1; CDPXR
Exon (8)1242..1376
Gene:ARSE
Gene Synonym:ASE; CDPX; CDPX1; CDPXR
Exon (9)1377..1539
Gene:ARSE
Gene Synonym:ASE; CDPX; CDPX1; CDPXR
Exon (10)1540..1661
Gene:ARSE
Gene Synonym:ASE; CDPX; CDPX1; CDPXR
Exon (11)1662..2220
Gene:ARSE
Gene Synonym:ASE; CDPX; CDPX1; CDPXR
Translation MLHLHHSCLCFRSWLPAMLAVLLSLAPSASSDISASRPNILLLMADDLGIGDIGCYGNNT MRTPNIDRLAEDGVKLTQHISAASLCTPSRAAFLTGRYPVRSGMVSSIGYRVLQWTGASG GLPTNETTFAKILKEKGYATGLIGKWHLGLNCESASDHCHHPLHHGFDHFYGMPFSLMGD CARWELSEKRVNLEQKLNFLFQVLALVALTLVAGKLTHLIPVSWMPVIWSALSAVLLLAS SYFVGALIVHADCFLMRNHTITEQPMCFQRTTPLILQEVASFLKRNKHGPFLLFVSFLHV HIPLITMENFLGKSLHGLYGDNVEEMDWMVGRILDTLDVEGLSNSTLIYFTSDHGGSLEN QLGNTQYGGWNGIYKGGKGMGGWEGGIRVPGIFRWPGVLPAGRVIGEPTSLMDVFPTVVR LAGGEVPQDRVIDGQDLLPLLLGTAQHSDHEFLMHYCERFLHAARWHQRDRGTMWKVHFV TPVFQPEGAGACYGRKVCPCFGEKVVHHDPPLLFDLSRDPSETHILTPASEPVFYQVMER VQQAVWEHQRTLSPVPLQLDRLGNIWRPWLQPCCGPFPLCWCLREDDPQ
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Position Chain Variation Link
complement(51)-dbSNP:
complement(51)-t, cdbSNP:41309659
complement(88)-g, cdbSNP:34081519
complement(115)-g, adbSNP:5982944
complement(120..121)-, adbSNP:377501710
complement(148)-g, adbSNP:149483525
complement(236..239)-dbSNP:
complement(236..239)-, ctctdbSNP:370572358
complement(239)-g, cdbSNP:371674459
complement(243..246)-, tctcdbSNP:200332753
complement(245)-g, cdbSNP:367891065
complement(265)-g, cdbSNP:146870341
286+dbSNP:
286+c, gdbSNP:122460151
complement(301)-t, cdbSNP:145117830
complement(307)-g, adbSNP:193203644
complement(308)-t, cdbSNP:372935423
complement(328)-t, cdbSNP:35718384
complement(341)-t, cdbSNP:371284329
complement(352)-g, adbSNP:151070930
complement(353)-t, cdbSNP:146065319
complement(360)-t, cdbSNP:148939283
complement(364)-t, cdbSNP:147879083
complement(368)-t, adbSNP:201723810
369+g, tdbSNP:80338710
complement(385)-t, cdbSNP:144570956
complement(402)-t, cdbSNP:140629896
complement(407)-t, cdbSNP:61733256
complement(421)-g, adbSNP:149939722
complement(445)-dbSNP:
complement(445)-g, adbSNP:139135001
complement(470)-t, cdbSNP:150756612
complement(530)-g, adbSNP:141210068
complement(574)-dbSNP:
complement(574)-g, adbSNP:138557520
582+c, gdbSNP:122460153
complement(583)-t, adbSNP:113509638
complement(587)-g, adbSNP:145946864
599+a, gdbSNP:122460152
complement(618)-g, adbSNP:199529414
complement(717)-t, cdbSNP:41310272
complement(745)-g, adbSNP:35274634
complement(762)-t, cdbSNP:368359145
complement(763)-g, adbSNP:143383382
complement(794)-t, cdbSNP:376321827
complement(798)-t, cdbSNP:34412194
complement(799)-g, adbSNP:5982618
complement(914)-t, cdbSNP:150444751
complement(927)-g, adbSNP:140499958
complement(952)-g, adbSNP:372031284
complement(953)-t, cdbSNP:200214721
complement(964)-g, adbSNP:34795651
complement(965)-t, cdbSNP:144630754
983+c, gdbSNP:122460154
complement(1000)-t, adbSNP:142332875
complement(1002)-g, adbSNP:368737099
complement(1025)-g, cdbSNP:138149353
complement(1033)-g, adbSNP:147648324
complement(1036)-t, cdbSNP:17325750
complement(1036)-g, adbSNP:386476213
complement(1138)-dbSNP:
complement(1138)-g, adbSNP:184888777
complement(1147)-g, adbSNP:148471739
complement(1183)-g, adbSNP:144550713
complement(1216)-g, adbSNP:149712610
complement(1237)-t, cdbSNP:199757831
complement(1244)-dbSNP:
complement(1244)-t, gdbSNP:139875495
complement(1284)-t, cdbSNP:374606461
complement(1306)-t, cdbSNP:187110605
complement(1312)-g, adbSNP:368781635
complement(1315)-t, gdbSNP:376707494
complement(1316)-t, cdbSNP:372625507
complement(1414)-dbSNP:
complement(1414)-g, adbSNP:145964787
complement(1439)-t, cdbSNP:201424543
complement(1449)-g, adbSNP:372359634
complement(1477)-t, cdbSNP:369695084
complement(1489)-g, adbSNP:142382411
complement(1509)-t, cdbSNP:137882432
complement(1519)-t, gdbSNP:201122295
complement(1520)-t, cdbSNP:35143646
complement(1522)-g, adbSNP:377070602
complement(1573)-dbSNP:
complement(1573)-g, adbSNP:2302078
complement(1636)-g, adbSNP:183018622
complement(1656)-t, cdbSNP:373614798
complement(1658)-g, cdbSNP:61743737
complement(1668)-dbSNP:
complement(1668)-t, gdbSNP:143775522
complement(1681)-t, gdbSNP:41308353
1692+c, tdbSNP:80338713
1725+a, gdbSNP:122460155
complement(1730)-t, cdbSNP:371121114
complement(1747)-t, cdbSNP:75821383
complement(1818)-g, cdbSNP:141712265
complement(1847)-t, cdbSNP:376111412
complement(1869)-t, cdbSNP:369409927
complement(1875)-t, cdbSNP:139173612
1942+c, tdbSNP:11222
complement(1944)-c, adbSNP:142375403
1978+a, gdbSNP:11055
1982+c, tdbSNP:28935474
1993+a, gdbSNP:80338714
complement(2060)-g, adbSNP:200675470
complement(2187)-g, adbSNP:5982927
Gene SymbolARSE
Gene SynonymASE; CDPX; CDPX1; CDPXR
ChromosomeX
Locus MapXp22.3
Title A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies .
Author Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S and Braverman N.
Journal Genet. Med. 15 (8), 650-657 (2013)
Title Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene .
Author Jeon GW, Kwon MJ, Lee SJ, Sin JB and Ki CS.
Journal Ann. Clin. Lab. Sci. 43 (1), 70-75 (2013)
Title Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe) .
Author Carty CL, Johnson NA, Hutter CM, Reiner AP, Peters U, Tang H and Kooperberg C.
Journal Hum. Mol. Genet. 21 (3), 711-720 (2012)
Title Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry .
Author N'Diaye A, Chen GK, Palmer CD, Ge B, Tayo B, Mathias RA, Ding J, Nalls MA, Adeyemo A, Adoue V, Ambrosone CB, Atwood L, Bandera EV, Becker LC, Berndt SI, Bernstein L, Blot WJ, Boerwinkle E, Britton A, Casey G, Chanock SJ, Demerath E, Deming SL, Diver WR, Fox C, Harris TB, Hernandez DG, Hu JJ, Ingles SA, John EM, Johnson C, Keating B, Kittles RA, Kolonel LN, Kritchevsky SB, Le Marchand L, Lohman K, Liu J, Millikan RC, Murphy A, Musani S, Neslund-Dudas C, North KE, Nyante S, Ogunniyi A, Ostrander EA, Papanicolaou G, Patel S, Pettaway CA, Press MF, Redline S, Rodriguez-Gil JL, Rotimi C, Rybicki BA, Salako B, Schreiner PJ, Signorello LB, Singleton AB, Stanford JL, Stram AH, Stram DO, Strom SS, Suktitipat B, Thun MJ, Witte JS, Yanek LR, Ziegler RG, Zheng W, Zhu X, Zmuda JM, Zonderman AB, Evans MK, Liu Y, Becker DM, Cooper RS, Pastinen T, Henderson BE, Hirschhorn JN, Lettre G and Haiman CA.
Journal PLoS Genet. 7 (10), E1002298 (2011)
Title Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata .
Author Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A and Meroni G.
Journal Am. J. Hum. Genet. 62 (3), 562-572 (1998)
Title X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene .
Author Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A and Andria G.
Journal Am. J. Med. Genet. 73 (2), 139-143 (1997)
Title Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region .
Author Puca AA, Zollo M, Repetto M, Andolfi G, Guffanti A, Simon G, Ballabio A and Franco B.
Journal Genomics 42 (2), 192-199 (1997)
Title Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region .
Author Meroni G, Franco B, Archidiacono N, Messali S, Andolfi G, Rocchi M and Ballabio A.
Journal Hum. Mol. Genet. 5 (4), 423-431 (1996)
Title A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy .
Author Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C and Ballabio A.
Journal Cell 81 (1), 15-25 (1995)
Title Chondrodysplasia Punctata 1, X-Linked .
Author Braverman,N.E., Bober,M., Brunetti-Pierri,N. and Oswald,G.L.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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