Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.
| RefSeq Version | NM_000047.2, 157266308 |
| Length | 2220 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| 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]. |
| RefSeq | NP_000038.2 |
| CDS | 251..2020 | Exon (1) | 1..230 | Exon (2) | 1..230 | Exon (3) | 231..273 | Exon (4) | 274..435 | Exon (5) | 436..557 | Exon (6) | 558..680 | Exon (7) | 681..1104 | Exon (8) | 1105..1241 | Exon (9) | 1242..1376 | Exon (10) | 1377..1539 | Exon (11) | 1540..1661 | Exon (12) | 1662..2220 |
| Translation | MLHLHHSCLCFRSWLPAMLAVLLSLAPSASSDISASRPNILLLMADDLGIGDIGCYGNNT
MRTPNIDRLAEDGVKLTQHISAASLCTPSRAAFLTGRYPVRSGMVSSIGYRVLQWTGASG
GLPTNETTFAKILKEKGYATGLIGKWHLGLNCESASDHCHHPLHHGFDHFYGMPFSLMGD
CARWELSEKRVNLEQKLNFLFQVLALVALTLVAGKLTHLIPVSWMPVIWSALSAVLLLAS
SYFVGALIVHADCFLMRNHTITEQPMCFQRTTPLILQEVASFLKRNKHGPFLLFVSFLHV
HIPLITMENFLGKSLHGLYGDNVEEMDWMVGRILDTLDVEGLSNSTLIYFTSDHGGSLEN
QLGNTQYGGWNGIYKGGKGMGGWEGGIRVPGIFRWPGVLPAGRVIGEPTSLMDVFPTVVR
LAGGEVPQDRVIDGQDLLPLLLGTAQHSDHEFLMHYCERFLHAARWHQRDRGTMWKVHFV
TPVFQPEGAGACYGRKVCPCFGEKVVHHDPPLLFDLSRDPSETHILTPASEPVFYQVMER
VQQAVWEHQRTLSPVPLQLDRLGNIWRPWLQPCCGPFPLCWCLREDDPQ
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Position | Chain | Variation | Link |
| complement(51) | - | t, c | dbSNP:41309659 |
| complement(88) | - | g, c | dbSNP:34081519 |
| complement(115) | - | g, a | dbSNP:5982944 |
| complement(194) | - | , gaagagga | dbSNP:67466528 |
| complement(212) | - | , t | dbSNP:66862160 |
| complement(219..220) | - | , c | dbSNP:66544058 |
| complement(273) | - | , largedeletion | dbSNP:71755744 |
| complement(328) | - | t, c | dbSNP:35718384 |
| 369 | + | g, t | dbSNP:80338710 |
| complement(407) | - | t, c | dbSNP:61733256 |
| complement(583) | - | t, a | dbSNP:113509638 |
| 660 | + | c, g, t | dbSNP:80338711 |
| complement(681) | - | , largedeletion | dbSNP:71758370 |
| complement(717) | - | t, c | dbSNP:41310272 |
| complement(745) | - | g, a | dbSNP:35274634 |
| complement(798) | - | t, c | dbSNP:34412194 |
| complement(799) | - | g, a | dbSNP:5982618 |
| complement(964) | - | g, a | dbSNP:34795651 |
| complement(1036) | - | t, c | dbSNP:17325750 |
| complement(1520) | - | t, c | dbSNP:35143646 |
| complement(1539) | - | , largedeletion | dbSNP:71699039 |
| complement(1573) | - | g, a | dbSNP:2302078 |
| complement(1658) | - | g, c | dbSNP:61743737 |
| complement(1681) | - | t, g | dbSNP:41308353 |
| 1692 | + | c, t | dbSNP:80338713 |
| complement(1747) | - | t, c | dbSNP:75821383 |
| complement(1942) | - | g, a | dbSNP:74787451 |
| 1942 | + | c, t | dbSNP:11222 |
| complement(1977..1978) | - | t, c | dbSNP:11551861 |
| 1978 | + | a, g | dbSNP:11055 |
| 1982 | + | c, t | dbSNP:28935474 |
| 1993 | + | a, g | dbSNP:80338714 |
| complement(2061) | - | , a | dbSNP:67425951 |
| complement(2187) | - | g, a | dbSNP:5982927 |
| Gene Symbol | ARSE |
| Gene Synonym | CDPX; CDPX1; CDPXR; MGC163310 |
| Chromosome | X |
| Locus Map | Xp22.3 |
| All Transcripts | NM_000047 |
| 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) |
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 |