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Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu17993 Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu17993C Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, 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_018418.4, 295789141
Length 1800 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.
Product spermatogenesis-associated protein 7 isoform 1
Comment

Summary: This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010].


Transcript Variant: This variant (1) encodes the longer isoform (1).

RefSeq NP_060888.2
CDS 176..1975
Misc Feature(1)29..31
Misc Feature(2)29..31
Misc Feature(3)191..1444
Misc Feature(4)191..1444
Exon (1)1..194
Gene:SPATA7
Gene Synonym:HEL-S-296; HSD-3.1; HSD3; LCA3
Exon (2)195..269
Gene:SPATA7
Gene Synonym:HEL-S-296; HSD-3.1; HSD3; LCA3
Exon (3)270..365
Gene:SPATA7
Gene Synonym:HEL-S-296; HSD-3.1; HSD3; LCA3
Exon (4)366..413
Gene:SPATA7
Gene Synonym:HEL-S-296; HSD-3.1; HSD3; LCA3
Exon (5)414..547
Gene:SPATA7
Gene Synonym:HEL-S-296; HSD-3.1; HSD3; LCA3
Exon (6)548..1020
Gene:SPATA7
Gene Synonym:HEL-S-296; HSD-3.1; HSD3; LCA3
Exon (7)1021..1087
Gene:SPATA7
Gene Synonym:HEL-S-296; HSD-3.1; HSD3; LCA3
Exon (8)1088..1203
Gene:SPATA7
Gene Synonym:HEL-S-296; HSD-3.1; HSD3; LCA3
Exon (9)1204..1257
Gene:SPATA7
Gene Synonym:HEL-S-296; HSD-3.1; HSD3; LCA3
Exon (10)1258..1335
Gene:SPATA7
Gene Synonym:HEL-S-296; HSD-3.1; HSD3; LCA3
Exon (11)1336..1390
Gene:SPATA7
Gene Synonym:HEL-S-296; HSD-3.1; HSD3; LCA3
Exon (12)1391..2013
Gene:SPATA7
Gene Synonym:HEL-S-296; HSD-3.1; HSD3; LCA3
Translation MDGSRRVRATSVLPRYGPPCLFKGHLSTKSNAFCTDSSSLRLSTLQLVKNHMAVHYNKIL SAKAAVDCSVPVSVSTSIKYADQQRREKLKKELAQCEKEFKLTKTAMRANYKNNSKSLFN TLQKPSGEPQIEDDMLKEEMNGFSSFARSLVPSSERLHLSLHKSSKVITNGPEKNSSSSP SSVDYAASGPRKLSSGALYGRRPRSTFPNSHRFQLVISKAPSGDLLDKHSELFSNKQLPF TPRTLKTEAKSFLSQYRYYTPAKRKKDFTDQRIEAETQTELSFKSELGTAETKNMTDSEM NIKQASNCVTYDAKEKIAPLPLEGHDSTWDEIKDDALQHSSPRAMCQYSLKPPSTRKIYS DEEELLYLSFIEDVTDEILKLGLFSNRFLERLFERHIKQNKHLEEEKMRHLLHVLKVDLG CTSEENSVKQNDVDMLNVFDFEKAGNSEPNELKNESEVTIQQERQQYQKALDMLLSAPKD ENEIFPSPTEFFMPIYKSKHSEGVIIQQVNDETNLETSTLDENHPSISDSLTDRETSVNV IEGDSDPEKVEISNGLCGLNTSPSQSVQFSSVKGDNNHDMELSTLKIMEMSIEDCPLDV
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Position Chain Variation Link
36+a, gdbSNP:371052337
44+a, gdbSNP:709886
78+c, tdbSNP:369551739
81+c, tdbSNP:114796215
125+a, gdbSNP:73319841
143+c, tdbSNP:373591853
144+a, g, tdbSNP:200780988
155+a, gdbSNP:3179968
161+a, gdbSNP:370773532
170+c, gdbSNP:186639262
178+a, gdbSNP:200244203
179+a, gdbSNP:4904448
189+a, gdbSNP:376911829
194+g, tdbSNP:371609982
215+dbSNP:
215+c, gdbSNP:371980216
219+c, gdbSNP:200551653
232+g, tdbSNP:367830780
277+dbSNP:
277+a, cdbSNP:375283216
278+a, gdbSNP:368604833
281+a, gdbSNP:148592675
296+a, gdbSNP:369484106
345+a, gdbSNP:111359991
382+dbSNP:
382+a, gdbSNP:142913613
387+c, tdbSNP:373094088
395+a, gdbSNP:3179969
420+dbSNP:
420+a, gdbSNP:376502749
428+c, tdbSNP:140287375
429+a, gdbSNP:199825301
459+a, gdbSNP:61747004
485+a, tdbSNP:200034171
487+a, gdbSNP:370952510
497+c, tdbSNP:80044281
498+a, gdbSNP:370110205
518+a, tdbSNP:373779457
532+g, tdbSNP:35137272
539+a, tdbSNP:202230167
541+a, tdbSNP:150093878
556+dbSNP:
556+c, tdbSNP:371280215
561+c, tdbSNP:374126653
562+a, gdbSNP:199727517
622+a, tdbSNP:200315779
641+a, cdbSNP:138633682
658+a, gdbSNP:370570531
669+a, gdbSNP:17124662
691+c, tdbSNP:143546398
692+a, gdbSNP:372509077
715+a, gdbSNP:140956264
721+c, tdbSNP:17124665
734+a, gdbSNP:143636395
828+c, tdbSNP:74072095
845+g, tdbSNP:139160202
854+a, gdbSNP:377029668
904+c, tdbSNP:151338404
932+c, tdbSNP:138993523
937+a, gdbSNP:372013193
988+a, gdbSNP:45472800
989+c, tdbSNP:139404133
990+a, gdbSNP:34682727
1009+a, gdbSNP:149878757
1058+dbSNP:
1058+a, gdbSNP:368583613
1098+dbSNP:
1098+a, gdbSNP:138190453
1107+a, gdbSNP:140107720
1110+a, gdbSNP:375872478
1112+a, gdbSNP:143812944
1135..1136+, adbSNP:386834241
1146+a, gdbSNP:17124677
1158+c, tdbSNP:142053000
1175+c, gdbSNP:201468418
1208+dbSNP:
1208+a, gdbSNP:375371982
1241+c, tdbSNP:369170423
1242+a, gdbSNP:151154007
1259+dbSNP:
1259+a, gdbSNP:140393080
1287+c, tdbSNP:150364664
1331+a, gdbSNP:138211483
1346+dbSNP:
1346+c, tdbSNP:374268850
1355+a, gdbSNP:199649645
1358+c, tdbSNP:75895925
1359+a, gdbSNP:202077954
1372+a, gdbSNP:200765820
1400+dbSNP:
1400+c, tdbSNP:376584178
1413+a, gdbSNP:149478294
1420+c, gdbSNP:146008165
1430+c, tdbSNP:112976233
1441+a, gdbSNP:370543925
1444+a, gdbSNP:149387181
1445+a, gdbSNP:34711956
1450+a, gdbSNP:200014426
1455+c, tdbSNP:143653250
1565+c, tdbSNP:143982149
1570+, adbSNP:386834243
1578+a, gdbSNP:146142429
1583+c, gdbSNP:375711118
1594+a, gdbSNP:368173857
1595+c, tdbSNP:111744247
1600+g, tdbSNP:181052380
1603+a, gdbSNP:140192398
1640+a, gdbSNP:372752890
1642+c, tdbSNP:374743640
1665+a, gdbSNP:142122029
1696+a, gdbSNP:112540192
1699+a, gdbSNP:368804173
1720+g, tdbSNP:183761283
1745+c, tdbSNP:267604078
1775+c, tdbSNP:201038372
1776+a, gdbSNP:10139784
1781+a, gdbSNP:200231959
1797+c, tdbSNP:139510848
1868+a, cdbSNP:149705437
1882+c, tdbSNP:201347745
1885+c, tdbSNP:145515677
1886+a, gdbSNP:369285856
1892+a, gdbSNP:148392950
1894+a, tdbSNP:145046180
1924+a, gdbSNP:147634556
1992+c, tdbSNP:374993020
Gene SymbolSPATA7
Gene SynonymHEL-S-296; HSD-3.1; HSD3; LCA3
Chromosome14
Locus Map14q31.3
Title Genetics of coronary artery calcification among African Americans, a meta-analysis .
Author Wojczynski MK, Li M, Bielak LF, Kerr KF, Reiner AP, Wong ND, Yanek LR, Qu L, White CC, Lange LA, Ferguson JF, He J, Young T, Mosley TH, Smith JA, Kral BG, Guo X, Wong Q, Ganesh SK, Heckbert SR, Griswold ME, O'Leary DH, Budoff M, Carr JJ, Taylor HA Jr, Bluemke DA, Demissie S, Hwang SJ, Paltoo DN, Polak JF, Psaty BM, Becker DM, Province MA, Post WS, O'Donnell CJ, Wilson JG, Harris TB, Kavousi M, Cupples LA, Rotter JI, Fornage M, Becker LC, Peyser PA, Borecki
Journal BMC Med. Genet. 14, 75 (2013)
Title Late onset retinitis pigmentosa .
Author Avila-Fernandez,A., Corton,M., Lopez-Molina,M.I., Martin-Garrido,E., Cantalapiedra,D., Fernandez-Sanchez,R., Blanco-Kelly,F., Riveiro-Alvarez,R., Tatu,S.D., Trujillo-Tiebas,M.J., Garcia-Sandoval,B., Ayuso,C. and Cremers,F.P.
Journal Ophthalmology 118 (12), 2523-2524 (2011)
Title Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations .
Author Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR and Moore AT.
Journal Invest. Ophthalmol. Vis. Sci. 52 (6), 3032-3038 (2011)
Title Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations .
Author Li L, Xiao X, Li S, Jiao X, Hejtmancik JF and Zhang Q.
Journal Mol. Vis. 17, 3326-3332 (2011)
Title Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa .
Author Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK and Chen R.
Journal Am. J. Hum. Genet. 84 (3), 380-387 (2009)
Title A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis .
Author Zhang X, Liu H, Zhang Y, Qiao Y, Miao S, Wang L, Zhang J, Zong S and Koide SS.
Journal J. Mol. Med. 81 (6), 380-387 (2003)
Title The DNA sequence and analysis of human chromosome 14 .
Author Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L and Weissenbach J.
Journal Nature 421 (6923), 601-607 (2003)
Title A novel locus for Leber congenital amaurosis on chromosome 14q24 .
Author Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL and Lupski JR.
Journal Hum. Genet. 103 (3), 328-333 (1998)
Title Retinitis Pigmentosa Overview .
Author Fahim,A.T., Daiger,S.P. and Weleber,R.G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Leber Congenital Amaurosis .
Author Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
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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