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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_018418 Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_018418.4, 295789141
Length 2031 bp
Structure linear
Update Date 17-APR-2013
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).


##Evidence-Data-START## Transcript exon combination :: AF144487.3, CR936777.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025085 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_060888.2
CDS 176..1975
Misc Feature(1)29..31
Misc Feature(2)29..31
Exon (1)1..194
Gene:SPATA7
Gene Synonym:HSD-3.1; HSD3; LCA3
Exon (2)195..269
Gene:SPATA7
Gene Synonym:HSD-3.1; HSD3; LCA3
Exon (3)270..365
Gene:SPATA7
Gene Synonym:HSD-3.1; HSD3; LCA3
Exon (4)366..413
Gene:SPATA7
Gene Synonym:HSD-3.1; HSD3; LCA3
Exon (5)414..547
Gene:SPATA7
Gene Synonym:HSD-3.1; HSD3; LCA3
Exon (6)548..1020
Gene:SPATA7
Gene Synonym:HSD-3.1; HSD3; LCA3
Exon (7)1021..1087
Gene:SPATA7
Gene Synonym:HSD-3.1; HSD3; LCA3
Exon (8)1088..1203
Gene:SPATA7
Gene Synonym:HSD-3.1; HSD3; LCA3
Exon (9)1204..1257
Gene:SPATA7
Gene Synonym:HSD-3.1; HSD3; LCA3
Exon (10)1258..1335
Gene:SPATA7
Gene Synonym:HSD-3.1; HSD3; LCA3
Exon (11)1336..1390
Gene:SPATA7
Gene Synonym:HSD-3.1; HSD3; LCA3
Exon (12)1391..2013
Gene:SPATA7
Gene Synonym:HSD-3.1; HSD3; LCA3
Translation MDGSRRVRATSVLPRYGPPCLFKGHLSTKSNAFCTDSSSLRLSTLQLVKNHMAVHYNKIL SAKAAVDCSVPVSVSTSIKYADQQRREKLKKELAQCEKEFKLTKTAMRANYKNNSKSLFN TLQKPSGEPQIEDDMLKEEMNGFSSFARSLVPSSERLHLSLHKSSKVITNGPEKNSSSSP SSVDYAASGPRKLSSGALYGRRPRSTFPNSHRFQLVISKAPSGDLLDKHSELFSNKQLPF TPRTLKTEAKSFLSQYRYYTPAKRKKDFTDQRIEAETQTELSFKSELGTAETKNMTDSEM NIKQASNCVTYDAKEKIAPLPLEGHDSTWDEIKDDALQHSSPRAMCQYSLKPPSTRKIYS DEEELLYLSFIEDVTDEILKLGLFSNRFLERLFERHIKQNKHLEEEKMRHLLHVLKVDLG CTSEENSVKQNDVDMLNVFDFEKAGNSEPNELKNESEVTIQQERQQYQKALDMLLSAPKD ENEIFPSPTEFFMPIYKSKHSEGVIIQQVNDETNLETSTLDENHPSISDSLTDRETSVNV IEGDSDPEKVEISNGLCGLNTSPSQSVQFSSVKGDNNHDMELSTLKIMEMSIEDCPLDV
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Position Chain Variation Link
44+a, gdbSNP:709886
81+c, tdbSNP:114796215
125+a, gdbSNP:73319841
144+g, tdbSNP:200780988
155+a, gdbSNP:3179968
170+c, gdbSNP:186639262
178+dbSNP:
178+a, gdbSNP:200244203
179+a, gdbSNP:4904448
219+dbSNP:
219+c, gdbSNP:200551653
275+dbSNP:
275+g, tdbSNP:144823986
281+a, gdbSNP:148592675
345+a, gdbSNP:111359991
382+dbSNP:
382+a, gdbSNP:142913613
395+a, gdbSNP:3179969
428+dbSNP:
428+c, tdbSNP:140287375
429+a, gdbSNP:199825301
459+a, gdbSNP:61747004
485+a, tdbSNP:200034171
497+a, c, tdbSNP:80044281
532+g, tdbSNP:35137272
539+a, tdbSNP:202230167
541+a, tdbSNP:150093878
562+dbSNP:
562+a, gdbSNP:199727517
622+a, tdbSNP:200315779
641+a, cdbSNP:138633682
669+a, gdbSNP:17124662
691+c, tdbSNP:143546398
715+a, gdbSNP:140956264
721+c, tdbSNP:17124665
734+a, gdbSNP:143636395
828+c, tdbSNP:74072095
845+g, tdbSNP:139160202
904+c, tdbSNP:151338404
932+c, tdbSNP:138993523
988+a, gdbSNP:45472800
989+c, tdbSNP:139404133
990+a, gdbSNP:34682727
1009+a, gdbSNP:149878757
1098+dbSNP:
1098+a, gdbSNP:138190453
1107+a, gdbSNP:140107720
1112+a, gdbSNP:143812944
1115+a, cdbSNP:146445714
1146+a, gdbSNP:17124677
1158+c, tdbSNP:142053000
1175+c, gdbSNP:201468418
1242+dbSNP:
1242+a, gdbSNP:151154007
1259+dbSNP:
1259+a, gdbSNP:140393080
1287+c, tdbSNP:150364664
1331+a, gdbSNP:138211483
1355+dbSNP:
1355+a, gdbSNP:199649645
1358+c, tdbSNP:75895925
1359+a, gdbSNP:202077954
1372+a, gdbSNP:200765820
1413+dbSNP:
1413+a, gdbSNP:149478294
1420+c, gdbSNP:146008165
1430+c, tdbSNP:112976233
1444+a, gdbSNP:149387181
1445+a, gdbSNP:34711956
1450+a, gdbSNP:200014426
1455+c, tdbSNP:143653250
1504+c, gdbSNP:148074326
1565+c, tdbSNP:143982149
1578+a, gdbSNP:146142429
1595+c, tdbSNP:111744247
1600+g, tdbSNP:181052380
1603+a, gdbSNP:140192398
1665+a, gdbSNP:142122029
1696+a, gdbSNP:112540192
1720+g, tdbSNP:183761283
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
1892+a, gdbSNP:148392950
1894+a, tdbSNP:145046180
1924+a, gdbSNP:147634556
Gene SymbolSPATA7
Gene SynonymHSD-3.1; HSD3; LCA3
Chromosome14
Locus Map14q31.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001040428 Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 2, mRNA. In-stock $639.00 $590.00 15
NM_018418 Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA. On-demand $849.00 20
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,D.S., Ocaka,L.A., Borman,A.D., Sergouniotis,P.I., Henderson,R.H., Moradi,P., Robson,A.G., Thompson,D.A., Webster,A.R. and Moore,A.T.
Journal Invest. Ophthalmol. Vis. Sci. 52 (6), 3032-3038 (2011)
Title Whole genome association scan for genetic polymorphisms influencing information processing speed .
Author Luciano,M., Hansell,N.K., Lahti,J., Davies,G., Medland,S.E., Raikkonen,K., Tenesa,A., Widen,E., McGhee,K.A., Palotie,A., Liewald,D., Porteous,D.J., Starr,J.M., Montgomery,G.W., Martin,N.G., Eriksson,J.G., Wright,M.J. and Deary,I.J.
Journal Biol Psychol 86 (3), 193-202 (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,J.F. and Zhang,Q.
Journal Mol. Vis. 17, 3326-3332 (2011)
Title Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype .
Author Perrault,I., Hanein,S., Gerard,X., Delphin,N., Fares-Taie,L., Gerber,S., Pelletier,V., Merce,E., Dollfus,H., Puech,B., Defoort-Dhellemmes,S., Petersen,M.D., Zafeiriou,D., Munnich,A., Kaplan,J., Roche,O. and Rozet,J.M.
Journal Hum. Mutat. 31 (3), E1241-E1250 (2010)
Title Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa .
Author Wang,H., den Hollander,A.I., Moayedi,Y., Abulimiti,A., Li,Y., Collin,R.W., Hoyng,C.B., Lopez,I., Abboud,E.B., Al-Rajhi,A.A., Bray,M., Lewis,R.A., Lupski,J.R., Mardon,G., Koenekoop,R.K. 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,S.S.
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,J.L., 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,D.W., Lewis,R.A., Abboud,E.B., Al-Rajhi,A., Jabak,M., Anderson,K.L. and Lupski,J.R.
Journal Hum. Genet. 103 (3), 328-333 (1998)


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