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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000047 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_000047.2, 157266308
Length 2220 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.
Product arylsulfatase E 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. [provided by RefSeq, Jul 2008].


##Evidence-Data-START## Transcript exon combination :: AK223183.1, X83573.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025086 [ECO:0000348] ##Evidence-Data-END##

RefSeq NP_000038.2
CDS 251..2020
Misc Feature(1)89..91
Misc Feature(2)359..>790
Misc Feature(3)362..>766
Misc Feature(4)<1070..1579
Misc Feature(5)<1193..1846
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(148)-g, adbSNP:149483525
complement(194)-, gaagaggadbSNP:67466528
complement(213)-, tdbSNP:66862160
complement(219..220)-, cdbSNP:66544058
complement(243..246)-dbSNP:
complement(243..246)-, tctcdbSNP:200332753
complement(265)-g, cdbSNP:146870341
complement(286)-dbSNP:
complement(286)-g, cdbSNP:122460151
complement(301)-t, cdbSNP:145117830
complement(307)-g, adbSNP:193203644
complement(328)-t, cdbSNP:35718384
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
complement(369)-t, gdbSNP: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
complement(582)-g, cdbSNP:122460153
complement(583)-t, adbSNP:113509638
complement(587)-g, adbSNP:145946864
complement(599)-g, adbSNP:122460152
complement(618)-g, adbSNP:199529414
complement(660)-t, g, cdbSNP:80338711
complement(717)-t, cdbSNP:41310272
complement(745)-g, adbSNP:35274634
complement(763)-g, adbSNP:143383382
complement(798)-t, cdbSNP:34412194
complement(799)-g, adbSNP:5982618
complement(914)-t, cdbSNP:150444751
complement(927)-g, adbSNP:140499958
complement(953)-t, cdbSNP:200214721
complement(964)-g, adbSNP:34795651
complement(965)-t, cdbSNP:144630754
complement(983)-g, cdbSNP:122460154
complement(1000)-t, adbSNP:142332875
complement(1025)-g, cdbSNP:138149353
complement(1033)-g, adbSNP:147648324
complement(1036)-t, cdbSNP:17325750
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(1306)-t, cdbSNP:187110605
complement(1414)-dbSNP:
complement(1414)-g, adbSNP:145964787
complement(1439)-t, cdbSNP:201424543
complement(1489)-g, adbSNP:142382411
complement(1509)-t, cdbSNP:137882432
complement(1519)-t, gdbSNP:201122295
complement(1520)-t, cdbSNP:35143646
complement(1573)-dbSNP:
complement(1573)-g, adbSNP:2302078
complement(1636)-g, adbSNP:183018622
complement(1655)-g, adbSNP:142013131
complement(1658)-g, cdbSNP:61743737
complement(1668)-dbSNP:
complement(1668)-t, gdbSNP:143775522
complement(1681)-t, gdbSNP:41308353
complement(1692)-t, cdbSNP:80338713
complement(1725)-g, adbSNP:122460155
complement(1747)-t, cdbSNP:75821383
complement(1818)-g, cdbSNP:141712265
complement(1875)-t, cdbSNP:139173612
complement(1942)-t, cdbSNP:11222
complement(1944)-c, adbSNP:142375403
complement(1978)-g, adbSNP:11055
complement(1982)-t, cdbSNP:28935474
complement(1993)-g, adbSNP:80338714
complement(2060)-g, adbSNP:200675470
complement(2061)-, adbSNP:67425951
complement(2187)-g, adbSNP:5982927
Gene SymbolARSE
Gene SynonymASE; CDPX; CDPX1; CDPXR
ChromosomeX
Locus MapXp22.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000047 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA. On-demand $849.00 20
Title Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe) .
Author Carty,C.L., Johnson,N.A., Hutter,C.M., Reiner,A.P., 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,G.K., Palmer,C.D., Ge,B., Tayo,B., Mathias,R.A., Ding,J., Nalls,M.A., Adeyemo,A., Adoue,V., Ambrosone,C.B., Atwood,L., Bandera,E.V., Becker,L.C., Berndt,S.I., Bernstein,L., Blot,W.J., Boerwinkle,E., Britton,A., Casey,G., Chanock,S.J., Demerath,E., Deming,S.L., Diver,W.R., Fox,C., Harris,T.B., Hernandez,D.G., Hu,J.J., Ingles,S.A., John,E.M., Johnson,C., Keating,B., Kittles,R.A., Kolonel,L.N., Kritchevsky,S.B., Le Marchand,L., Lohman,K., Liu,J., Millikan,R.C., Murphy,A., Musani,S., Neslund-Dudas,C., North,K.E., Nyante,S., Ogunniyi,A., Ostrander,E.A., Papanicolaou,G., Patel,S., Pettaway,C.A., Press,M.F., Redline,S., Rodriguez-Gil,J.L., Rotimi,C., Rybicki,B.A., Salako,B., Schreiner,P.J., Signorello,L.B., Singleton,A.B., Stanford,J.L., Stram,A.H., Stram,D.O., Strom,S.S., Suktitipat,B., Thun,M.J., Witte,J.S., Yanek,L.R., Ziegler,R.G., Zheng,W., Zhu,X., Zmuda,J.M., Zonderman,A.B., Evans,M.K., Liu,Y., Becker,D.M., Cooper,R.S., Pastinen,T., Henderson,B.E., Hirschhorn,J.N., Lettre,G. and Haiman,C.A.
Journal PLoS Genet. 7 (10), E1002298 (2011)
Title Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata .
Author Nino,M., Matos-Miranda,C., Maeda,M., Chen,L., Allanson,J., Armour,C., Greene,C., Kamaluddeen,M., Rita,D., Medne,L., Zackai,E., Mansour,S., Superti-Furga,A., Lewanda,A., Bober,M., Rosenbaum,K. and Braverman,N.
Journal Am. J. Med. Genet. A 146A (8), 997-1008 (2008)
Title X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability .
Author Brunetti-Pierri,N., Andreucci,M.V., Tuzzi,R., Vega,G.R., Gray,G., McKeown,C., Ballabio,A., Andria,G., Meroni,G. and Parenti,G.
Journal Am. J. Med. Genet. A 117A (2), 164-168 (2003)
Title Arylsulfatase D gene in Xp22.3 encodes two protein isoforms .
Author Urbitsch,P., Salzer,M.J., Hirschmann,P. and Vogt,P.H.
Journal DNA Cell Biol. 19 (12), 765-773 (2000)
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,M.G., 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,A.A., 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,G.A., Andria,G., Petit,C. and Ballabio,A.
Journal Cell 81 (1), 15-25 (1995)


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