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Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_201253 Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $1198.00 $1149.00 16

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RefSeq Version NM_201253.2, 302370924
Length 5024 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.
Product protein crumbs homolog 1 isoform 1 precursor
Comment

Summary: This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012].


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

RefSeq NP_957705.1
CDS 210..4430
Misc Feature(1)132..134
Misc Feature(2)423..533
Misc Feature(3)order(426..428,468..470)
Misc Feature(4)651..761
Misc Feature(5)order(651..653,660..662,702..704)
Misc Feature(6)765..875
Misc Feature(7)order(765..767,774..776,816..818)
Misc Feature(8)879..989
Misc Feature(9)order(879..881,888..890,930..932)
Misc Feature(10)993..1106
Misc Feature(11)order(993..995,1002..1004,1044..1046)
Misc Feature(12)<1134..1220
Misc Feature(13)1398..>1481
Misc Feature(14)order(1398..1400,1407..1409,1449..1451)
Misc Feature(15)1662..2156
Misc Feature(16)2238..2330
Misc Feature(17)2367..2783
Misc Feature(18)2874..2978
Misc Feature(19)order(2877..2879,2919..2921)
Misc Feature(20)3063..3515
Misc Feature(21)<3645..3734
Misc Feature(22)3738..3845
Misc Feature(23)order(3738..3740,3747..3749,3786..3788)
Misc Feature(24)3849..3956
Misc Feature(25)order(3849..3851,3858..3860,3900..3902)
Misc Feature(26)4098..4208
Misc Feature(27)order(4098..4100,4107..4109,4149..4151)
Misc Feature(28)4251..4313
Exon (1)1..279
Gene:CRB1
Gene Synonym:LCA8; RP12
Exon (2)280..861
Gene:CRB1
Gene Synonym:LCA8; RP12
Exon (3)862..1057
Gene:CRB1
Gene Synonym:LCA8; RP12
Exon (4)1058..1197
Gene:CRB1
Gene Synonym:LCA8; RP12
Exon (5)1198..1380
Gene:CRB1
Gene Synonym:LCA8; RP12
Exon (6)1381..2337
Gene:CRB1
Gene Synonym:LCA8; RP12
Exon (7)2338..2885
Gene:CRB1
Gene Synonym:LCA8; RP12
Exon (8)2886..3051
Gene:CRB1
Gene Synonym:LCA8; RP12
Exon (9)3052..3958
Gene:CRB1
Gene Synonym:LCA8; RP12
Exon (10)3959..4087
Gene:CRB1
Gene Synonym:LCA8; RP12
Exon (11)4088..4214
Gene:CRB1
Gene Synonym:LCA8; RP12
Exon (12)4215..5006
Gene:CRB1
Gene Synonym:LCA8; RP12
Translation MALKNINYLLIFYLSFSLLIYIKNSFCNKNNTRCLSNSCQNNSTCKDFSKDNDCSCSDTA NNLDKDCDNMKDPCFSNPCQGSATCVNTPGERSFLCKCPPGYSGTICETTIGSCGKNSCQ HGGICHQDPIYPVCICPAGYAGRFCEIDHDECASSPCQNGAVCQDGIDGYSCFCVPGYQG RHCDLEVDECASDPCKNEATCLNEIGRYTCICPHNYSGVNCELEIDECWSQPCLNGATCQ DALGAYFCDCAPGFLGDHCELNTDECASQPCLHGGLCVDGENRYSCNCTGSGFTGTHCET LMPLCWSKPCHNNATCEDSVDNYTCHCWPGYTGAQCEIDLNECNSNPCQSNGECVELSSE KQYGRITGLPSSFSYHEASGYVCICQPGFTGIHCEEDVNECSSNPCQNGGTCENLPGNYT CHCPFDNLSRTFYGGRDCSDILLGCTHQQCLNNGTCIPHFQDGQHGFSCLCPSGYTGSLC EIATTLSFEGDGFLWVKSGSVTTKGSVCNIALRFQTVQPMALLLFRSNRDVFVKLELLSG YIHLSIQVNNQSKVLLFISHNTSDGEWHFVEVIFAEAVTLTLIDDSCKEKCIAKAPTPLE SDQSICAFQNSFLGGLPVGMTSNGVALLNFYNMPSTPSFVGCLQDIKIDWNHITLENISS GSSLNVKAGCVRKDWCESQPCQSRGRCINLWLSYQCDCHRPYEGPNCLREYVAGRFGQDD STGYVIFTLDESYGDTISLSMFVRTLQPSGLLLALENSTYQYIRVWLERGRLAMLTPNSP KLVVKFVLNDGNVHLISLKIKPYKIELYQSSQNLGFISASTWKIEKGDVIYIGGLPDKQE TELNGGFFKGCIQDVRLNNQNLEFFPNPTNNASLNPVLVNVTQGCAGDNSCKSNPCHNGG VCHSRWDDFSCSCPALTSGKACEEVQWCGFSPCPHGAQCQPVLQGFECIANAVFNGQSGQ ILFRSNGNITRELTNITFGFRTRDANVIILHAEKEPEFLNISIQDSRLFFQLQSGNSFYM LSLTSLQSVNDGTWHEVTLSMTDPLSQTSRWQMEVDNETPFVTSTIATGSLNFLKDNTDI YVGDRAIDNIKGLQGCLSTIEIGGIYLSYFENVHGFINKPQEEQFLKISTNSVVTGCLQL NVCNSNPCLHGGNCEDIYSSYHCSCPLGWSGKHCELNIDECFSNPCIHGNCSDRVAAYHC TCEPGYTGVNCEVDIDNCQSHQCANGATCISHTNGYSCLCFGNFTGKFCRQSRLPSTVCG NEKTNLTCYNGGNCTEFQTELKCMCRPGFTGEWCEKDIDECASDPCVNGGLCQDLLNKFQ CLCDVAFAGERCEVDLADDLISDIFTTIGSVTVALLLILLLAIVASVVTSNKRATQGTYS PSRQEKEGSRVEMWNLMPPPAMERLI
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Position Chain Variation Link
34+dbSNP:
34+c, tdbSNP:187413046
208+c, tdbSNP:202209651
223+a, gdbSNP:139427846
238+c, tdbSNP:201609001
308+dbSNP:
308+g, tdbSNP:59691602
320+, tdbSNP:62645750
344+c, gdbSNP:145141811
365+c, tdbSNP:143046320
370+g, tdbSNP:140428156
384+a, cdbSNP:74406466
466..467+, gtdbSNP:62636260
472+c, tdbSNP:201893755
474+c, tdbSNP:145525029
517+c, gdbSNP:116254396
525+a, cdbSNP:116067724
538+c, gdbSNP:142514137
590+a, gdbSNP:6690444
637..641+, gattcdbSNP:62636261
639+g, tdbSNP:62636262
687..688+, gdbSNP:62635048
691+c, tdbSNP:62635651
693+a, gdbSNP:137853138
709+c, tdbSNP:139837568
715+a, gdbSNP:150314336
791+a, cdbSNP:201148750
809+a, gdbSNP:77713666
820..826+, aaataggdbSNP:281865172
822..828+, ataggaadbSNP:62645752
823+c, tdbSNP:62645749
825..830+, ggaagadbSNP:62645753
825+a, gdbSNP:186043558
873+dbSNP:
873+a, gdbSNP:114846212
888+a, gdbSNP:190037839
959+g, tdbSNP:62635652
966+c, gdbSNP:114913030
1032+a, gdbSNP:151296553
1034+a, gdbSNP:149685264
1042+c, tdbSNP:140214293
1067+dbSNP:
1067+c, tdbSNP:138168156
1072+g, tdbSNP:148240351
1075+a, c, tdbSNP:62636263
1076+a, gdbSNP:147244321
1214+dbSNP:
1214+c, gdbSNP:200669262
1235+a, cdbSNP:144798709
1255+a, tdbSNP:148551147
1261+a, gdbSNP:139199216
1302+c, tdbSNP:116347915
1317+c, tdbSNP:201773650
1357+a, gdbSNP:62645754
1391+dbSNP:
1391+c, tdbSNP:115352681
1398+c, gdbSNP:114264441
1401+a, gdbSNP:144011428
1417+c, gdbSNP:62645746
1507+a, gdbSNP:62636288
1514+a, tdbSNP:34813822
1541+c, tdbSNP:148865280
1619+a, gdbSNP:3902057
1637+c, tdbSNP:62636282
1647+c, tdbSNP:62636264
1648+a, gdbSNP:62636265
1655+c, tdbSNP:150894028
1656+a, gdbSNP:146120995
1659+a, gdbSNP:144029476
1664+a, gdbSNP:200202087
1679+c, tdbSNP:35193230
1742+c, tdbSNP:142224492
1785+c, tdbSNP:114342808
1813+c, tdbSNP:113082791
1856+c, tdbSNP:62636283
1881+a, tdbSNP:115811272
1916+c, tdbSNP:201885772
1976+g, tdbSNP:142458114
1984+c, tdbSNP:146486883
2038+a, gdbSNP:143655463
2146+a, tdbSNP:142002146
2154+a, gdbSNP:138936375
2171+c, tdbSNP:137987476
2195+a, gdbSNP:115400822
2206+a, tdbSNP:189395222
2219+c, tdbSNP:201949837
2227+a, gdbSNP:145956521
2242+a, gdbSNP:139463596
2244+c, gdbSNP:62636286
2251+a, gdbSNP:62636266
2312+c, gdbSNP:144436610
2337+c, gdbSNP:62645755
2338+dbSNP:
2338+a, tdbSNP:145282040
2418+a, gdbSNP:142129159
2431+c, tdbSNP:62636267
2434+c, tdbSNP:140494140
2439+a, cdbSNP:150412614
2443+c, tdbSNP:28939720
2453..2455+, atcdbSNP:62635653
2481+a, tdbSNP:201700675
2499+c, tdbSNP:62635654
2515+a, gdbSNP:62636287
2516+c, tdbSNP:151104285
2541+a, tdbSNP:150726045
2561+a, tdbSNP:139001684
2568+g, tdbSNP:140608881
2607+a, gdbSNP:74846670
2610+a, tdbSNP:137853137
2615+a, tdbSNP:141103073
2623+c, tdbSNP:144457647
2650+a, tdbSNP:62636268
2671+c, tdbSNP:142857810
2688+g, tdbSNP:62636269
2715+a, cdbSNP:116471343
2718+c, gdbSNP:62636289
2747+a, tdbSNP:139040133
2757..2760+, ggctdbSNP:62636270
2764+c, tdbSNP:62636271
2822..2823+, tdbSNP:62636272
2844+a, gdbSNP:200313756
2846+c, gdbSNP:150464955
2854+c, tdbSNP:200354761
2877+a, gdbSNP:138259621
complement(2880)-c, adbSNP:62635658
2890+dbSNP:
2890+a, gdbSNP:62636290
2897+a, tdbSNP:62636273
2923+a, gdbSNP:114052315
2949+a, cdbSNP:112447965
2955+c, tdbSNP:140648074
3005+a, gdbSNP:139127915
3015+a, gdbSNP:181410446
3018+a, gdbSNP:114630940
3031+c, tdbSNP:77334581
3032+a, gdbSNP:62645757
3040+a, tdbSNP:150011272
3051+a, tdbSNP:62645747
3052+dbSNP:
3052+a, gdbSNP:62645748
3062..3063+, tdbSNP:281865173
3091..3093+, tatdbSNP:62645745
3101+a, gdbSNP:146781806
3185+a, gdbSNP:200379694
3186+a, gdbSNP:151092557
3192+g, tdbSNP:62635655
3194+g, tdbSNP:150244786
3246+c, tdbSNP:143511261
3278+a, gdbSNP:201932177
3283+g, tdbSNP:62636274
3331+c, tdbSNP:62635656
3364+a, gdbSNP:145799973
3380+c, g, tdbSNP:62636284
3386+a, gdbSNP:114510093
3388+c, tdbSNP:141758462
3421+c, tdbSNP:62635657
3508+c, g, tdbSNP:62635659
3516+a, gdbSNP:62636275
3526+a, gdbSNP:115649214
3527+c, tdbSNP:186077696
3529+c, g, tdbSNP:62636276
3540+g, tdbSNP:62636277
3554+, tdbSNP:62636278
3585+c, tdbSNP:149390998
3602+c, tdbSNP:150559394
3606+a, gdbSNP:116246250
3608+g, tdbSNP:146793724
3627+g, tdbSNP:201380452
3641+c, tdbSNP:199596437
3656+g, tdbSNP:150062546
3747+a, gdbSNP:149216103
3750+c, tdbSNP:62636291
3823+a, gdbSNP:62636279
3834+a, gdbSNP:201349525
3892+a, cdbSNP:147924782
3904+a, gdbSNP:142090517
3922+g, tdbSNP:78471980
3967+dbSNP:
3967+a, gdbSNP:192412647
3969+a, tdbSNP:200163174
4018+a, gdbSNP:138667698
4033+c, gdbSNP:138089138
4085+a, gdbSNP:114973695
4088+dbSNP:
4088+a, gdbSNP:281865174
4158+a, cdbSNP:62636281
4170..4179+, tgcctctgtgdbSNP:63749127
4170+a, tdbSNP:62635649
4196+c, tdbSNP:138108243
4201+a, gdbSNP:62636285
4206+g, tdbSNP:137853136
4235+dbSNP:
4235+c, tdbSNP:142057392
4239+a, gdbSNP:111761880
4266+a, gdbSNP:200670424
4269+a, gdbSNP:200469148
4297+c, tdbSNP:142836410
4314+a, gdbSNP:140017812
4327..4336+, gggcaactcadbSNP:281865175
4357+a, gdbSNP:200573274
4442+c, tdbSNP:199582748
4458+c, tdbSNP:41302107
4511+c, tdbSNP:192819758
4522+g, tdbSNP:140946837
4561+c, tdbSNP:185292040
4754+c, gdbSNP:190166697
4791+a, gdbSNP:144908497
4823+c, tdbSNP:147966959
4868+a, cdbSNP:78960292
4869+a, tdbSNP:75722818
4871+a, gdbSNP:78675229
Gene SymbolCRB1
Gene SynonymLCA8; RP12
Chromosome1
Locus Map1q31-q32.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001193640 Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 2, mRNA. On-demand $1699.00 25
NM_001257965 Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 3, mRNA. On-demand $1699.00 25
NM_001257966 Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 4, mRNA. On-demand $899.00 20
NM_201253 Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. In-stock $1198.00 $1149.00 16
Title A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen .
Author Paun,C.C., Pijl,B.J., Siemiatkowska,A.M., Collin,R.W., Cremers,F.P., Hoyng,C.B. and den Hollander,A.I.
Journal Mol. Vis. 18, 2447-2453 (2012)
Title Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa .
Author Paterson,R.L., De Roach,J.N., McLaren,T.L., Hewitt,A.W., Hoffmann,L. and Lamey,T.M.
Journal Mol. Vis. 18, 2043-2052 (2012)
Title Molecular diagnosis of putative Stargardt Disease probands by exome sequencing .
Author Strom,S.P., Gao,Y.Q., Martinez,A., Ortube,C., Chen,Z., Nelson,S.F., Nusinowitz,S., Farber,D.B. and Gorin,M.B.
Journal BMC Med. Genet. 13, 67 (2012)
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 Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene .
Author den Hollander,A.I., Heckenlively,J.R., van den Born,L.I., de Kok,Y.J., van der Velde-Visser,S.D., Kellner,U., Jurklies,B., van Schooneveld,M.J., Blankenagel,A., Rohrschneider,K., Wissinger,B., Cruysberg,J.R., Deutman,A.F., Brunner,H.G., Apfelstedt-Sylla,E., Hoyng,C.B. and Cremers,F.P.
Journal Am. J. Hum. Genet. 69 (1), 198-203 (2001)
Title Mutations in the CRB1 gene cause Leber congenital amaurosis .
Author Lotery,A.J., Jacobson,S.G., Fishman,G.A., Weleber,R.G., Fulton,A.B., Namperumalsamy,P., Heon,E., Levin,A.V., Grover,S., Rosenow,J.R., Kopp,K.K., Sheffield,V.C. and Stone,E.M.
Journal Arch. Ophthalmol. 119 (3), 415-420 (2001)
Title Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12) .
Author den Hollander,A.I., ten Brink,J.B., de Kok,Y.J., van Soest,S., van den Born,L.I., van Driel,M.A., van de Pol,D.J., Payne,A.M., Bhattacharya,S.S., Kellner,U., Hoyng,C.B., Westerveld,A., Brunner,H.G., Bleeker-Wagemakers,E.M., Deutman,A.F., Heckenlively,J.R., Cremers,F.P. and Bergen,A.A.
Journal Nat. Genet. 23 (2), 217-221 (1999)
Title Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization .
Author den Hollander,A.I., van Driel,M.A., de Kok,Y.J., van de Pol,D.J., Hoyng,C.B., Brunner,H.G., Deutman,A.F. and Cremers,F.P.
Journal Genomics 58 (3), 240-249 (1999)
Title Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC) .
Author van Soest,S., te Nijenhuis,S., van den Born,L.I., Bleeker-Wagemakers,E.M., Sharp,E., Sandkuijl,L.A., Westerveld,A. and Bergen,A.A.
Journal Cytogenet. Cell Genet. 73 (1-2), 81-85 (1996)
Title Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population .
Author van Soest,S., van den Born,L.I., Gal,A., Farrar,G.J., Bleeker-Wagemakers,L.M., Westerveld,A., Humphries,P., Sandkuijl,L.A. and Bergen,A.A.
Journal Genomics 22 (3), 499-504 (1994)


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