• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens crumbs family member 1, photoreceptor morphogenesis associated (CRB1), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu34280 Homo sapiens crumbs family member 1, photoreceptor morphogenesis associated (CRB1), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $1149.00 16
OHu34280C Homo sapiens crumbs family member 1, photoreceptor morphogenesis associated (CRB1), transcript variant 1, mRNA. Customized vector In-stock $1149.00 16

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_201253.2, 302370924
Length 4221 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens crumbs family member 1, photoreceptor morphogenesis associated (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..758
Misc Feature(5)order(651..653,660..662,702..704)
Misc Feature(6)768..875
Misc Feature(7)order(774..776,816..818)
Misc Feature(8)882..989
Misc Feature(9)order(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)2235..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
188+a, tdbSNP:367794880
189+a, gdbSNP:372086239
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
complement(384)-c, adbSNP:74406466
389+c, gdbSNP:375702596
466..467+, gtdbSNP:62636260
472+c, tdbSNP:201893755
474+c, tdbSNP:145525029
478+a, gdbSNP:368816923
517+c, gdbSNP:116254396
525+a, cdbSNP:116067724
538+c, gdbSNP:142514137
549+g, tdbSNP:374426056
561+c, tdbSNP:377764269
590+a, gdbSNP:6690444
637..641+, gattcdbSNP:62636261
639+g, tdbSNP:62636262
687..688+, gdbSNP:62635048
691+c, tdbSNP:62635651
692+c, tdbSNP:370907719
693+a, gdbSNP:137853138
707..715+, aattgatggdbSNP:398124615
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
953+c, tdbSNP:367580749
959+g, tdbSNP:62635652
966+c, gdbSNP:114913030
974+a, gdbSNP:370277976
1034+a, gdbSNP:149685264
1042+c, tdbSNP:140214293
1062+dbSNP:
1062+a, cdbSNP:368366574
1067+c, tdbSNP:138168156
1072+g, tdbSNP:148240351
1075+c, tdbSNP:62636263
1076+a, gdbSNP:147244321
1077+g, tdbSNP:375379774
1078+c, gdbSNP:371751359
1214+dbSNP:
1214+c, gdbSNP:200669262
1235+a, cdbSNP:144798709
1255+a, tdbSNP:148551147
1261+a, gdbSNP:139199216
1298+c, tdbSNP:376105354
1302+c, tdbSNP:116347915
1317+c, tdbSNP:201773650
1357+a, gdbSNP:62645754
1391+dbSNP:
1391+c, tdbSNP:115352681
1392+g, tdbSNP:369775002
1398+c, gdbSNP:114264441
1401+a, gdbSNP:144011428
1415+c, tdbSNP:373229699
1417+c, gdbSNP:62645746
1507+a, gdbSNP:62636288
1514+a, tdbSNP:34813822
1541+c, tdbSNP:148865280
1543+a, gdbSNP:375931028
1568+c, tdbSNP:369138776
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
1661+c, tdbSNP:372844443
1664+a, gdbSNP:200202087
1679+c, tdbSNP:35193230
1716+a, gdbSNP:375590765
1742+c, tdbSNP:142224492
1785+c, tdbSNP:114342808
1813+c, tdbSNP:113082791
1856+c, tdbSNP:62636283
1881+a, tdbSNP:115811272
1916+c, tdbSNP:201885772
1922+c, gdbSNP:375514026
1938+a, gdbSNP:377023757
1976+g, tdbSNP:142458114
1984+c, tdbSNP:146486883
2027+c, tdbSNP:371114178
2038+a, gdbSNP:143655463
2070+a, gdbSNP:374177126
2122+c, tdbSNP:267598278
2128+c, tdbSNP:368336603
2146+a, tdbSNP:142002146
2154+a, gdbSNP:138936375
2156+c, tdbSNP:370486884
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
2260+a, gdbSNP:371557082
2312+c, gdbSNP:144436610
2326+a, gdbSNP:373835764
2337+c, gdbSNP:62645755
2338+dbSNP:
2338+a, tdbSNP:145282040
2374+c, tdbSNP:375056993
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, g, tdbSNP:201700675
2499+c, tdbSNP:62635654
2500+a, gdbSNP:375040930
2515+a, gdbSNP:62636287
2516+c, tdbSNP:151104285
2520+a, gdbSNP:369074728
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
2628+c, tdbSNP:371089348
2650+a, tdbSNP:62636268
2671+c, tdbSNP:142857810
2672+a, gdbSNP:375269970
2682+a, gdbSNP:368152306
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
2880+g, tdbSNP: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
3030+a, cdbSNP:374914600
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
3076+a, gdbSNP:267598279
3083+c, tdbSNP:372778560
3091..3093+, tatdbSNP:62645745
3101+a, gdbSNP:146781806
3109+a, gdbSNP:267598280
3185+a, gdbSNP:200379694
3186+a, gdbSNP:151092557
3192+g, tdbSNP:62635655
3223+a, gdbSNP:369184026
3246+c, tdbSNP:143511261
3251+c, tdbSNP:374426440
3267+a, gdbSNP:377765256
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
3398+a, cdbSNP:370428071
3420+c, tdbSNP:398124614
3421+c, tdbSNP:62635657
3508+c, g, tdbSNP:62635659
3515+c, tdbSNP:374786358
3516+a, gdbSNP:62636275
3526+a, gdbSNP:115649214
3527+c, tdbSNP:186077696
3529+c, g, tdbSNP:62636276
3540+g, tdbSNP:62636277
3554+, tdbSNP:62636278
3581+a, cdbSNP:376135634
3585+a, c, tdbSNP:149390998
3602+c, tdbSNP:150559394
3606+a, gdbSNP:116246250
3608+g, tdbSNP:146793724
3626+c, gdbSNP:368757240
3627+g, tdbSNP:201380452
3641+c, tdbSNP:199596437
3656+g, tdbSNP:150062546
3657+a, cdbSNP:372272372
3675+a, gdbSNP:374194344
3747+a, gdbSNP:149216103
3750+c, tdbSNP:62636291
3768+a, gdbSNP:371586216
3773+c, tdbSNP:376271122
3805+a, gdbSNP:368991071
3823+a, gdbSNP:62636279
3834+a, gdbSNP:201349525
3860+c, tdbSNP:372850945
3879+a, gdbSNP:377217637
3892+a, cdbSNP:147924782
3904+a, gdbSNP:142090517
3922+g, tdbSNP:78471980
3926+c, tdbSNP:370095562
3943+c, tdbSNP:373634005
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
4099+a, gdbSNP:369143187
4142+c, gdbSNP:372846698
4148+a, gdbSNP:375597838
4158+a, cdbSNP:62636281
4170..4179+, tgcctctgtgdbSNP:63749127
4170+a, tdbSNP:62635649
4196+c, tdbSNP:138108243
4201+a, gdbSNP:62636285
4204+g, tdbSNP:377543137
4206+g, tdbSNP:137853136
4235+dbSNP:
4235+c, tdbSNP:142057392
4239+a, gdbSNP:111761880
4262+a, gdbSNP:375396992
4266+a, gdbSNP:200670424
4269+a, gdbSNP:200469148
4297+c, tdbSNP:142836410
4327..4336+, gggcaactcadbSNP:281865175
4355+a, cdbSNP:371870746
4357+a, gdbSNP:200573274
4442+c, tdbSNP:199582748
4444+c, tdbSNP:372365258
4453+g, tdbSNP:370880289
4458+c, tdbSNP:41302107
4462+a, cdbSNP:376992575
4464+c, tdbSNP:368878220
4511+c, tdbSNP:192819758
4522+g, tdbSNP:140946837
4561+c, tdbSNP:185292040
4683+g, tdbSNP:377147123
4735+c, tdbSNP:370582068
4754+c, gdbSNP:190166697
4791+a, gdbSNP:144908497
complement(4823)-t, cdbSNP: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 family member 1, photoreceptor morphogenesis associated (CRB1), transcript variant 2, mRNA. On-demand $1699.00 25
NM_201253 Homo sapiens crumbs family member 1, photoreceptor morphogenesis associated (CRB1), transcript variant 1, mRNA. In-stock $1149.00 16
NM_001257965 Homo sapiens crumbs family member 1, photoreceptor morphogenesis associated (CRB1), transcript variant 3, mRNA. On-demand $1699.00 25
NM_001257966 Homo sapiens crumbs family member 1, photoreceptor morphogenesis associated (CRB1), transcript variant 4, mRNA. On-demand $279.00 12-14
XM_006711249 PREDICTED: Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant X1, mRNA. On-demand $1699.00 25
XM_006711250 PREDICTED: Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant X2, mRNA. On-demand $279.00 12-14
Title CRB1: one gene, many phenotypes .
Author Ehrenberg M, Pierce EA, Cox GF and Fulton AB.
Journal Semin Ophthalmol 28 (5-6), 397-405 (2013)
Title A case of CRB1-negative Coats-like retinitis pigmentosa .
Author Sarao V, Veritti D, Prosperi R, Pignatto S and Lanzetta P.
Journal J AAPOS 17 (4), 414-416 (2013)
Title A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa .
Author Tiab L, Largueche L, Chouchane I, Derouiche K, Munier FL, El Matri
Journal Mol. Vis. 19, 829-834 (2013)
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 AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, Hoyng CB and Cremers FP.
Journal Am. J. Hum. Genet. 69 (1), 198-203 (2001)
Title Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12) .
Author den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP and Bergen AA.
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 AI, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, Deutman AF and Cremers FP.
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 LI, Bleeker-Wagemakers EM, Sharp E, Sandkuijl LA, Westerveld A and Bergen AA.
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 LI, Gal A, Farrar GJ, Bleeker-Wagemakers LM, Westerveld A, Humphries P, Sandkuijl LA and Bergen AA.
Journal Genomics 22 (3), 499-504 (1994)
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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