Details for: RPGRIP1
Associated with
Other Information
Genular Protein ID: 2904689837
Symbol: RPGR1_HUMAN
Name: X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10958648
Title: The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
PubMed ID: 10958648
PubMed ID: 10958647
Title: Identification of a novel protein interacting with RPGR.
PubMed ID: 10958647
PubMed ID: 11528500
Title: Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
PubMed ID: 11528500
PubMed ID: 12508121
Title: The DNA sequence and analysis of human chromosome 14.
PubMed ID: 12508121
DOI: 10.1038/nature01348
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: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 12140192
Title: Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.
PubMed ID: 12140192
PubMed ID: 16339905
Title: Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
PubMed ID: 16339905
PubMed ID: 20200501
Title: The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network.
PubMed ID: 20200501
DOI: 10.1038/ki.2010.27
PubMed ID: 21224891
Title: Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
PubMed ID: 21224891
PubMed ID: 21685204
Title: The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
PubMed ID: 21685204
DOI: 10.1093/hmg/ddr280
PubMed ID: 25398945
Title: Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
PubMed ID: 25398945
DOI: 10.1093/hmg/ddu573
PubMed ID: 24981858
Title: C2 domains as protein-protein interaction modules in the ciliary transition zone.
PubMed ID: 24981858
PubMed ID: 12920076
Title: Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.
PubMed ID: 12920076
DOI: 10.1136/jmg.40.8.616
PubMed ID: 17554762
Title: Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
PubMed ID: 17554762
DOI: 10.1002/humu.20565
PubMed ID: 17306875
Title: Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.
PubMed ID: 17306875
PubMed ID: 18682808
Title: Molecular characterization of Leber congenital amaurosis in Koreans.
PubMed ID: 18682808
PubMed ID: 21602930
Title: Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
PubMed ID: 21602930
Sequence Information:
- Length: 1286
- Mass: 146682
- Checksum: 00AC1C2A0AC82253
- Sequence:
MSHLVDPTSG DLPVRDIDAI PLVLPASKGK NMKTQPPLSR MNREELEDSF FRLREDHMLV KELSWKQQDE IKRLRTTLLR LTAAGRDLRV AEEAAPLSET ARRGQKAGWR QRLSMHQRPQ MHRLQGHFHC VGPASPRRAQ PRVQVGHRQL HTAGAPVPEK PKRGPRDRLS YTAPPSFKEH ATNENRGEVA SKPSELVSGS NSIISFSSVI SMAKPIGLCM PNSAHIMASN TMQVEEPPKS PEKMWPKDEN FEQRSSLECA QKAAELRASI KEKVELIRLK KLLHERNASL VMTKAQLTEV QEAYETLLQK NQGILSAAHE ALLKQVNELR AELKEESKKA VSLKSQLEDV SILQMTLKEF QERVEDLEKE RKLLNDNYDK LLESMLDSSD SSSQPHWSNE LIAEQLQQQV SQLQDQLDAE LEDKRKVLLE LSREKAQNED LKLEVTNILQ KHKQEVELLQ NAATISQPPD RQSEPATHPA VLQENTQIEP SEPKNQEEKK LSQVLNELQV SHAETTLELE KTRDMLILQR KINVCYQEEL EAMMTKADND NRDHKEKLER LTRLLDLKNN RIKQLEGILR SHDLPTSEQL KDVAYGTRPL SLCLETLPAH GDEDKVDISL LHQGENLFEL HIHQAFLTSA ALAQAGDTQP TTFCTYSFYD FETHCTPLSV GPQPLYDFTS QYVMETDSLF LHYLQEASAR LDIHQAMASE HSTLAAGWIC FDRVLETVEK VHGLATLIGA GGEEFGVLEY WMRLRFPIKP SLQACNKRKK AQVYLSTDVL GGRKAQEEEF RSESWEPQNE LWIEITKCCG LRSRWLGTQP SPYAVYRFFT FSDHDTAIIP ASNNPYFRDQ ARFPVLVTSD LDHYLRREAL SIHVFDDEDL EPGSYLGRAR VPLLPLAKNE SIKGDFNLTD PAEKPNGSIQ VQLDWKFPYI PPESFLKPEA QTKGKDTKDS SKISSEEEKA SFPSQDQMAS PEVPIEAGQY RSKRKPPHGG ERKEKEHQVV SYSRRKHGKR IGVQGKNRME YLSLNILNGN TPEQVNYTEW KFSETNSFIG DGFKNQHEEE EMTLSHSALK QKEPLHPVND KESSEQGSEV SEAQTTDSDD VIVPPMSQKY PKADSEKMCI EIVSLAFYPE AEVMSDENIK QVYVEYKFYD LPLSETETPV SLRKPRAGEE IHFHFSKVID LDPQEQQGRR RFLFDMLNGQ DPDQGHLKFT VVSDPLDEEK KECEEVGYAY LQLWQILESG RDILEQELDI VSPEDLATPI GRLKVSLQAA AVLHAIYKEM TEDLFS
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.