Details for: CRB1
Associated with
Other Information
Genular Protein ID: 1689231506
Symbol: CRUM1_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10508521
Title: Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
PubMed ID: 10508521
DOI: 10.1038/13848
PubMed ID: 11734541
Title: CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila.
PubMed ID: 11734541
PubMed ID: 15914641
Title: MPP5 recruits MPP4 to the CRB1 complex in photoreceptors.
PubMed ID: 15914641
DOI: 10.1167/iovs.04-1417
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 12567265
Title: A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.
PubMed ID: 12567265
PubMed ID: 17920587
Title: FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex.
PubMed ID: 17920587
PubMed ID: 11389483
Title: Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
PubMed ID: 11389483
DOI: 10.1086/321263
PubMed ID: 11231775
Title: Mutations in the CRB1 gene cause Leber congenital amaurosis.
PubMed ID: 11231775
PubMed ID: 11559858
Title: CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation.
PubMed ID: 11559858
PubMed ID: 12573663
Title: Mutation screening of Pakistani families with congenital eye disorders.
PubMed ID: 12573663
PubMed ID: 12700176
Title: Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
PubMed ID: 12700176
DOI: 10.1093/hmg/ddg117
PubMed ID: 12843338
Title: Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
PubMed ID: 12843338
DOI: 10.1136/jmg.40.7.e89
PubMed ID: 15024725
Title: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
PubMed ID: 15024725
DOI: 10.1002/humu.20010
PubMed ID: 15459956
Title: CRB1 mutation spectrum in inherited retinal dystrophies.
PubMed ID: 15459956
DOI: 10.1002/humu.20093
PubMed ID: 15623792
Title: Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.
PubMed ID: 15623792
DOI: 10.1167/iovs.04-0734
PubMed ID: 15691574
Title: Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
PubMed ID: 15691574
PubMed ID: 16205573
Title: Evaluation of genotype-phenotype associations in Leber congenital amaurosis.
PubMed ID: 16205573
PubMed ID: 17128490
Title: Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.
PubMed ID: 17128490
PubMed ID: 16936081
Title: CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of Leber congenital amaurosis.
PubMed ID: 16936081
DOI: 10.1167/iovs.05-1637
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
PubMed ID: 17438615
Title: Gene symbol: CRB1.
PubMed ID: 17438615
PubMed ID: 17724218
Title: Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
PubMed ID: 17724218
DOI: 10.1167/iovs.07-0068
PubMed ID: 18055821
Title: Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
PubMed ID: 18055821
DOI: 10.1167/iovs.07-0610
PubMed ID: 18682808
Title: Molecular characterization of Leber congenital amaurosis in Koreans.
PubMed ID: 18682808
PubMed ID: 19140180
Title: Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
PubMed ID: 19140180
DOI: 10.1002/ajmg.a.32634
PubMed ID: 19956407
Title: Molecular characterization of retinitis pigmentosa in Saudi Arabia.
PubMed ID: 19956407
PubMed ID: 20108431
Title: Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.
PubMed ID: 20108431
PubMed ID: 20683928
Title: Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
PubMed ID: 20683928
DOI: 10.1002/humu.21336
PubMed ID: 20591486
Title: Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
PubMed ID: 20591486
PubMed ID: 21987686
Title: Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
PubMed ID: 21987686
PubMed ID: 20956273
Title: Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
PubMed ID: 20956273
PubMed ID: 22128245
Title: Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
PubMed ID: 22128245
PubMed ID: 21602930
Title: Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
PubMed ID: 21602930
PubMed ID: 22065545
PubMed ID: 22334370
Title: Next-generation genetic testing for retinitis pigmentosa.
PubMed ID: 22334370
DOI: 10.1002/humu.22045
PubMed ID: 28819299
Title: The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
PubMed ID: 28819299
PubMed ID: 30120214
Title: Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.
PubMed ID: 30120214
Sequence Information:
- Length: 1406
- Mass: 154183
- Checksum: F2D04D20FAA6E37D
- Sequence:
MALKNINYLL IFYLSFSLLI YIKNSFCNKN NTRCLSNSCQ NNSTCKDFSK DNDCSCSDTA NNLDKDCDNM KDPCFSNPCQ GSATCVNTPG ERSFLCKCPP GYSGTICETT IGSCGKNSCQ HGGICHQDPI YPVCICPAGY AGRFCEIDHD ECASSPCQNG AVCQDGIDGY SCFCVPGYQG RHCDLEVDEC ASDPCKNEAT CLNEIGRYTC ICPHNYSGVN CELEIDECWS QPCLNGATCQ DALGAYFCDC APGFLGDHCE LNTDECASQP CLHGGLCVDG ENRYSCNCTG SGFTGTHCET LMPLCWSKPC HNNATCEDSV DNYTCHCWPG YTGAQCEIDL NECNSNPCQS NGECVELSSE KQYGRITGLP SSFSYHEASG YVCICQPGFT GIHCEEDVNE CSSNPCQNGG TCENLPGNYT CHCPFDNLSR TFYGGRDCSD ILLGCTHQQC LNNGTCIPHF QDGQHGFSCL CPSGYTGSLC EIATTLSFEG DGFLWVKSGS VTTKGSVCNI ALRFQTVQPM ALLLFRSNRD VFVKLELLSG YIHLSIQVNN QSKVLLFISH NTSDGEWHFV EVIFAEAVTL TLIDDSCKEK CIAKAPTPLE SDQSICAFQN SFLGGLPVGM TSNGVALLNF YNMPSTPSFV GCLQDIKIDW NHITLENISS GSSLNVKAGC VRKDWCESQP CQSRGRCINL WLSYQCDCHR PYEGPNCLRE YVAGRFGQDD STGYVIFTLD ESYGDTISLS MFVRTLQPSG LLLALENSTY QYIRVWLERG RLAMLTPNSP KLVVKFVLND GNVHLISLKI KPYKIELYQS SQNLGFISAS TWKIEKGDVI YIGGLPDKQE TELNGGFFKG CIQDVRLNNQ NLEFFPNPTN NASLNPVLVN VTQGCAGDNS CKSNPCHNGG VCHSRWDDFS CSCPALTSGK ACEEVQWCGF SPCPHGAQCQ PVLQGFECIA NAVFNGQSGQ ILFRSNGNIT RELTNITFGF RTRDANVIIL HAEKEPEFLN ISIQDSRLFF QLQSGNSFYM LSLTSLQSVN DGTWHEVTLS MTDPLSQTSR WQMEVDNETP FVTSTIATGS LNFLKDNTDI YVGDRAIDNI KGLQGCLSTI EIGGIYLSYF ENVHGFINKP QEEQFLKIST NSVVTGCLQL NVCNSNPCLH GGNCEDIYSS YHCSCPLGWS GKHCELNIDE CFSNPCIHGN CSDRVAAYHC TCEPGYTGVN CEVDIDNCQS HQCANGATCI SHTNGYSCLC FGNFTGKFCR QSRLPSTVCG NEKTNLTCYN GGNCTEFQTE LKCMCRPGFT GEWCEKDIDE CASDPCVNGG LCQDLLNKFQ CLCDVAFAGE RCEVDLADDL ISDIFTTIGS VTVALLLILL LAIVASVVTS NKRATQGTYS PSRQEKEGSR VEMWNLMPPP AMERLI
Genular Protein ID: 3969481185
Symbol: F5H0L2_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
Sequence Information:
- Length: 1382
- Mass: 151240
- Checksum: 74FA178304D1F74A
- Sequence:
MKDPCFSNPC QGSATCVNTP GERSFLCKCP PGYSGTICET TIGSCGKNSC QHGGICHQDP IYPVCICPAG YAGRFCEIDH DECASSPCQN GAVCQDGIDG YSCFCVPGYQ GRHCDLEVDE CASDPCKNEA TCLNEIGRYT CICPHNYSGV NCELEIDECW SQPCLNGATC QDALGAYFCD CAPGFLGDHC ELNTDECASQ PCLHGGLCVD GENRYSCNCT GSGFTGTHCE TLMPLCWSKP CHNNATCEDS VDNYTCHCWP GYTGAQCEID LNECNSNPCQ SNGECVELSS EKQYGRITGL PSSFSYHEAS GYVCICQPGF TGIHCEEDVN ECSSNPCQNG GTCENLPGNY TCHCPFDNLS RTFYGGRDCS DILLGCTHQQ CLNNGTCIPH FQDGQHGFSC LCPSGYTGSL CEIATTLSFE GDGFLWVKSG SVTTKGSVCN IALRFQTVQP MALLLFRSNR DVFVKLELLS GYIHLSIQVN NQSKVLLFIS HNTSDGEWHF VEVIFAEAVT LTLIDDSCKE KCIAKAPTPL ESDQSICAFQ NSFLGGLPVG MTSNGVALLN FYNMPSTPSF VGCLQDIKID WNHITLENIS SGSSLNVKAG CVRKDWCESQ PCQSRGRCIN LWLSYQCDCH RPYEGPNCLR EYVAGRFGQD DSTGYVIFTL DESYGDTISL SMFVRTLQPS GLLLALENST YQYIRVWLER GRLAMLTPNS PKLVVKFVLN DGNVHLISLK IKPYKIELYQ SSQNLGFISA STWKIEKGDV IYIGGLPDKQ ETELNGGFFK GCIQDVRLNN QNLEFFPNPT NNASLNPVLV NVTQGCAGDN SCKRQTNVGR ALTELGSRGP KYQVSLFRFC VGSWATGNTF FLSSIKPGSN PCHNGGVCHS RWDDFSCSCP ALTSGKACEE VQWCGFSPCP HGAQCQPVLQ GFECIANAVF NGQSGQILFR SNGNITRELT NITFGFRTRD ANVIILHAEK EPEFLNISIQ DSRLFFQLQS GNSFYMLSLT SLQSVNDGTW HEVTLSMTDP LSQTSRWQME VDNETPFVTS TIATGSLNFL KDNTDIYVGD RAIDNIKGLQ GCLSTIEIGG IYLSYFENVH GFINKPQEEQ FLKISTNSVV TGCLQLNVCN SNPCLHGGNC EDIYSSYHCS CPLGWSGKHC ELNIDECFSN PCIHGNCSDR VAAYHCTCEP GYTGVNCEVD IDNCQSHQCA NGATCISHTN GYSCLCFGNF TGKFCRQSRL PSTVCGNEKT NLTCYNGGNC TEFQTELKCM CRPGFTGEWC EKDIDECASD PCVNGGLCQD LLNKFQCLCD VAFAGERCEV DLADDLISDI FTTIGSVTVA LLLILLLAIV ASVVTSNKRA TQGTYSPSRQ EKEGSRVEMW NLMPPPAMER LI
Genular Protein ID: 3961221285
Symbol: B7Z826_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 1382
- Mass: 151197
- Checksum: EFEFA1B927E7AE6E
- Sequence:
MKDPCFSNPC QGSATCVNTP GERSFLCKCP PGYSGTICET TIGSCGKNSC QHGGICHQDP IYPVCICPAG YAGRFCEIDH DECASSPCQN GAVCQDGIDG YSCFCVPGYQ GRHCDLEVDE CASDPCKNEA TCLNEIGRYT CICPHNYSGV NCELEIDECW SQPCLNGATC QDALGAYFCD CAPGFLGDHC ELNTDECASQ PCLHGGLCVD GENRYSCNCT GSGFTGTHCE TLMPLCWSKP CHNNATCEDS VDNYTCHCWP GYTGAQCEID LNECNSNPCQ SNGECVELSS EKQYGRITGL PSSFSYHEAS GYVCICQPGF TGIHCEEDVN ECSSNPCQNG GTCENLPGNY TCHCPFDNLS RTFCGGRDCS DILLGCTHQQ CLNNGTCIPH FQDGQHGFSC LCPSGYTGSL CEIATTLSFE GDGFLWVKSG SVTTKGSVCN IALRLQTVQP MALLLFRSNR DVFVKLELLS GYIHLSIQVN NQSKVLLFIS HNTSDGEWHF VEVIFAEAVT LTLIDDSCKE KCIAKAPTPL ESDQSICAFQ NSFLGGLPVG MTSNGVALLN FYNMPSTPSF VGCLQDIKID WNHITLENIS SGSSLNVKAG CVRKDWCESQ LCQSRGRCIN LWLSYQCDCH RPYEGPNCLR EYVAGRFGQD DSTGYVIFTL DESYGDTISL SMFVRTLQPS GLLLALENST YQYIRVWLER GRLAMLTPNS PKLVVKFVLN DGNVHLISLK IKPYKIELYQ SSQNLGFISA STWKIEKGDV IYIGGLPDKQ ETELNGGFFK GCIQDVRLNN QNLEFFPNPT NNASLNPVLV NVTQGCAGDN SCKRQTNVGR AFTELGSRGP KYQVSLFRFC VGSWATGNTF FLSSIKPGSN PCHNGGVCHS RWDDFSCSCP ALTSGKACEE VQWCGFSPCP HGAQCQPVLQ GFECIANAVF NGQSGQILFR SNGNITRELT NITFGFRTRD ANVIILHAEK EPEFLNISIQ DSRLFFQLQS GNSFYMLSLT SLQSVNDGTW HEVTLSMTDP LSQTSRWQME VDNETPFVTS TIATGSLNFL KDNTDIYVGD RAIDNIKGLQ GCLSTIEIGG IYLSYFENVH GFINKPQEEQ FLKISTNSVV TGCLQLNVCN SNPCLHGGNC EDIYSSYHCS CPLGWSGKHC ELNIDECFSN PCIHGNCSDR VAAYHCTCEP GYTGVDCEVD IDNCQSHQCA NGATCISHTN GYSCLCFGNF TGKFCRQSRL PSTVCGNEKT NLTCYNGGNC TEFQTELKCM CRPGFTGEWC EKDIDECASD PCVNGGLCQD LLNKFQCLCD VAFAGERCEV DLADDLISDI FTTIGSVTVA LLLILLLAIV ASVVTSNKRA TQGTYSPSRQ EKEGSRVEMW NLMPPPAMER LI
Genular Protein ID: 3943121263
Symbol: B7Z824_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 887
- Mass: 98032
- Checksum: 7324585A9C4DFE11
- Sequence:
MALLLFRSNR DVFVKLELLS GYIHLSIQVN NQSKVLLFIS HNTSDGEWHF VEVIFAEAVT LTLIDDSCKE KCIAKAPTPL ESDQSICAFQ NSFLGGLPVG MTSNGVALLN FYNMPSTPSF VGCLQDIKID WNHITLENIS SGSSLNVKAG CVRKDWCESQ PCQSRGRCIN LWLSYQCDCH RPYEGPNCLR EYVAGRFGQD DSTGYVIFTL DESYGDTISL SMFVRTLQPS GLLLALENST YQYIRVWLER GRLAMLTPNS PKLVVKFVLN DGNVHLISLK IKPYKIELYQ SSQNLGFISA STWKIEKGDV IYIGGLPDKQ ETELNGGFFK GCIQDVRLNN QNLEFFPNPT NNASLNPVLV NVTQGCAGDN SCKSNPCHNG GVCHSRWDDF SCSCPALTSG KACEEVQWCG FSPCPHGAQC QPVLQGFECI ANAVFNGQSG QILFRSNGNI TRELTNITFG FRTRDANVII LHAEKEPEFL NISIQDSRLF FQLQSGNSFY MLSLTSLQSV NDGTWHEVTL SMTDPLSQTS RWQMEVDNET PFVTSTIATG SLNFLKDNTD IYVGDRAIDN IKGLQGCLST IEIGGIYLSY FENVHGFINK PQEEQFLKIS TNSVVTGCLQ LNVCNSNPCL HGGNCEDIYS SYHCSCPLGW SGKHCELNID ECFSNPCIHG NCSDRVAAYH CTCEPGYTGV NCEVDIDNCQ SHQCANGATC ISHTNGYSCL CFGNFTGKFC RQSRLPSTVC GNEKTNLTCY NGGNCTEFQT ELKCMCRPGF TGEWCEKDID ECASDPCVNG GLCQDLLNKF QCLCDVAFAG ERCEVDLADD LISDIFTTIG SVTVALLLIL LLAIVASVVT SNKRATQGTY SPSRQEKEGS RVEMWNLMPP PAMERLI
Genular Protein ID: 459041524
Symbol: A8K118_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 1406
- Mass: 154157
- Checksum: EF7B2965E70D8738
- Sequence:
MALKNINYLL IFYLSFSLLI YIKNSFCNKN NTRCLSNSCQ NNSTCKDFSK DNDCSCSDTA NNLDKDCDNM KDPCFSNPCQ GSATCVNTPG ERSFLCKCPP GYSGTICETT IGSCGKNSCQ HGGICHQDPI YPVCICPAGY AGRFCEIDHD ECASSPCQNG AVCQDGIDGY SCFCVPGYQG RHCDLEVDEC ASDPCKNEAT CLNEIGRYTC ICPHNYSGVN CELEIDECWS QPCLNGATCQ DALGAYFCDC APGFLGDHCE LNTDECASQP CLHGGLCVDG ENRYSCNCTG SGFTGTHCET LMPLCWSKPC HNNATCEDSV DNYTCHCWPG YTGAQCEIDL NECNSNPCQS NGECVELSSE KQYGRITGLP SSFSYHEASG YVCICQPGFT GIHCEEDVNE CSSNPCQNGG TCENLPGNYT CHCPFDNLSR TFYGGRDCSD ILLGCTHQQC LNNGTCIPHF QDGQHGFSCL CPSGYTGSLC EIATTLSFEG DGFLWVKSGS VTTKGSVCNI ALRFQTVQPM ALLLFRSNRD VFVKLELLSG YIHLSIQVNN QSKVLLFISH NTSDGEWHFV EVIFAEAVTL TLIDDSCKEK CIAKAPTPLE SDQSICAFQN SFLGGLPVGM TSNGVALLNF YNMPSTPSFV GCLQDIKIDW NHITLENISS GSSLNVKAGC VRKDWCESQP CQSRGRCINL WLSYQCDCHR PYEGPNCLRE YVAGRFGQDD STGYVIFTLD ESYGDTISLS MFVRTLQPSG LLLALENSTY QYIRVWLERG RLAMLTPNSP KLVVKFVLND GNVHLISLKI KPYKIELYQS SQNLGFISAS TWKIEKGDVI YIGGLPDKQE TELNGGFFKG CIQDVRLNNQ NLEFFPNPTN NASLNPVLVN VTQGCAGDNS CKSNPCHNGG VCHSRWDDFS CSCPALTSGK ACEEVQWCGF SPCPHGAQCQ PVLQGFECIA NAVFNGQSGQ ILFRSNGNIT RELTNITFGF RTRDANVIIL HAEKEPEFLN ISIQDSRLFF QLQSGNSFYM LSLTSLQSVN DGTWHEVTLS MTDPLSQTSR WQMEVDNETP FVTSTIATGS LNFLKDNTDI YVGDRAIDNI KGLQGCLSTI EIGGIYLSYF ENVHGFINKP QEEQFLKIST NSVVTGCLQL NVCNSNPCLH GGNCEDIYSS YHCSCPLGWS GKHCELNIDE CFSNPCIHGN CSDRVAAYHC TCEPGYTGVN CEVDIDNCQS HQCANGATCI SHTNGHSCLC FGNFTGKFCR QSRLPSTVCG NEKTNLTCYN GGNCTEFQTE LKCMCRPGFT GEWCEKDIDE CASDPCVNGG LCQDLLNKFQ CLCDVAFAGE RCEVDLADDL ISDIFTTIGS VTVALLLILL LAIVASVVTS NKRATQGTYS PSRQEKEGSR VEMWNLMPPP AMERLI
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.