Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.
| RefSeq Version | NM_001085428.2, 313569798 |
| Length | 3935 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| 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]. 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 | Exon (1) | 1..228 | Exon (2) | 1..228 | Exon (3) | 229..469 | Exon (4) | 470..688 | Exon (5) | 689..858 | Exon (6) | 859..983 | Exon (7) | 984..1111 | Exon (8) | 1112..1214 | Exon (9) | 1215..3658 |
| Translation | MGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRF
LGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAF
AHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTA
IGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAP
GVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVR
GVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGG
VAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPD
PHA
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| Position | Chain | Variation | Link |
| 50 | + | c, g | dbSNP:6151406 |
| 94 | + | c, g | dbSNP:1051539 |
| complement(229) | - | , largedeletion | dbSNP:71708494 |
| 247 | + | c, t | dbSNP:6151410 |
| 255 | + | c, t | dbSNP:6151411 |
| complement(416) | - | g, c | dbSNP:60504011 |
| 463 | + | c, t | dbSNP:6151412 |
| 518 | + | a, g | dbSNP:74315271 |
| complement(568) | - | g, a | dbSNP:113209108 |
| 589 | + | g, t | dbSNP:6151415 |
| complement(595) | - | g, a | dbSNP:34457249 |
| complement(623) | - | t, c | dbSNP:62001867 |
| complement(628) | - | g, a | dbSNP:113990230 |
| 762..763 | + | , t | dbSNP:74315270 |
| 1076 | + | g, t | dbSNP:6151422 |
| 1153 | + | c, t | dbSNP:6151425 |
| 1298 | + | g, t | dbSNP:74315267 |
| 1310 | + | a, g | dbSNP:74315269 |
| 1329 | + | a, g | dbSNP:6151427 |
| complement(1349) | - | t, c | dbSNP:117341984 |
| 1497 | + | a, g | dbSNP:6151428 |
| complement(1874) | - | t, a | dbSNP:5741862 |
| complement(2169) | - | t, c | dbSNP:5770953 |
| complement(2216) | - | g, c | dbSNP:7288338 |
| complement(2275) | - | g, a | dbSNP:8142033 |
| complement(2311) | - | g, c | dbSNP:115593886 |
| complement(2389) | - | t, c | dbSNP:7288050 |
| complement(2453) | - | t, c | dbSNP:5770805 |
| complement(2610) | - | t, a | dbSNP:114833506 |
| complement(2741) | - | , aaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa | dbSNP:71718021 |
| 2749..2780 | + | , tttttttttttttttttttttttttttttttt | dbSNP:131716 |
| complement(2766) | - | c, a | dbSNP:111495898 |
| complement(2772) | - | c, a | dbSNP:6010033 |
| complement(2820) | - | c, a | dbSNP:35519140 |
| 2885 | + | c, g | dbSNP:131717 |
| complement(2903) | - | g, a | dbSNP:76841085 |
| complement(2939) | - | t, a | dbSNP:6010032 |
| complement(3000) | - | c, a | dbSNP:34969940 |
| complement(3004) | - | g, a | dbSNP:8137818 |
| complement(3010) | - | t, c | dbSNP:8142531 |
| complement(3042) | - | c, a | dbSNP:35005618 |
| complement(3044) | - | c, a | dbSNP:34367180 |
| complement(3056) | - | t, g | dbSNP:6009939 |
| complement(3104) | - | g, a | dbSNP:79823940 |
| complement(3164) | - | t, c | dbSNP:116560900 |
| complement(3280) | - | t, c | dbSNP:73172277 |
| complement(3303) | - | t, c | dbSNP:56788262 |
| complement(3324) | - | t, a | dbSNP:7290199 |
| complement(3567..3568) | - | , g | dbSNP:36019124 |
| complement(3587..3588) | - | , g | dbSNP:34290947 |
| complement(3850) | - | g, a | dbSNP:117951552 |
| complement(3908) | - | t, g | dbSNP:11704557 |
| Gene Symbol | ARSA |
| Gene Synonym | MLD |
| Chromosome | 22 |
| Locus Map | 22q13.33 |
| All Transcripts | NM_001085428 , NM_000487 , NM_001085425 , NM_001085426 , NM_001085427 |
| Title | Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy . |
| Author | Cesani,M., Capotondo,A., Plati,T., Sergi,L.S., Fumagalli,F., Roncarolo,M.G., Naldini,L., Comi,G., Sessa,M. and Biffi,A. |
| Journal | Hum. Mutat. 30 (10), E936-E945 (2009) |
| Title | Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy . |
| Author | Matzner,U., Breiden,B., Schwarzmann,G., Yaghootfam,A., Fluharty,A.L., Hasilik,A., Sandhoff,K. and Gieselmann,V. |
| Journal | J. Biol. Chem. 284 (14), 9372-9381 (2009) |
| Title | Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy . |
| Author | Bisgaard,A.M., Kirchhoff,M., Nielsen,J.E., Kibaek,M., Lund,A., Schwartz,M. and Christensen,E. |
| Journal | Clin. Genet. 75 (2), 175-179 (2009) |
| Title | Molecular and clinical consequences of novel mutations in the arylsulfatase A gene . |
| Author | Lugowska,A., Wlodarski,P., Ploski,R., Mierzewska,H., Dudzinska,M., Matheisel,A., Swietochowska,H. and Tylki-Szymanska,A. |
| Journal | Clin. Genet. 75 (1), 57-64 (2009) |
| Title | Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19 . |
| Author | Oshikawa,M., Usami,R. and Kato,S. |
| Journal | Mol. Vis. 15, 482-494 (2009) |
| Title | Diagnosis of arylsulfatase A deficiency . |
| Author | Li,Z.G., Waye,J.S. and Chang,P.L. |
| Journal | Am. J. Med. Genet. 43 (6), 976-982 (1992) |
| 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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