Property Summary

NCBI Gene PubMed Count 42
Grant Count 184
R01 Count 43
Funding $49,790,977.15
PubMed Score 0.88
PubTator Score 180.72

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
lung adenocarcinoma -1.800 0.000
lung carcinoma -2.700 0.000
non-small cell lung carcinoma -1.600 0.000

Synonym

Accession P56715
Symbols ORP1
DCDC4A

Gene

RP1

PANTHER Protein Class (1)

 GO Function (1)

Gene RIF (31)

PMID Text
25883087 We suggest that arRP patients with high myopic refractive error should be preferentially analysed for RP1 mutations.
25692139 it reports that different regions of RP1 can also lead to arRCD.
25494902 Two novel heterozygous null mutations in RP1 co-segregate with the disease in autosomal recessive retinitis pigmentosa patients.
25088982 The L66P mutation in the first doublecortin domain of the Rp1 gene impairs Rp1 protein localization and function, leading to abnormalities in photoreceptor outer segment structure and progressive photoreceptor degeneration.
23940504 Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases.
23844040 RP1 phosphorylation at Ser(236) by CK2 seems to play a significant role in cell adhesion and might initiate new insights in the CK2 and EB1 family protein association.
23077400 A novel homozygous retinitis pigmentosa nonsense mutation in exon 4 of the RP1 gene, c.1012C>T (p.R338*) was identified in the proband and her two affected sisters.
23049240 The most severe missense mutation occurred in patients with p.D984G in RP1.
22927954 molecular mechanism of RP1 mutation
22917891 p.Ser542Stop is a single founder mutation and the most prevalent described mutation in the Spanish population. It causes early-onset RP with a rapid macular degeneration and is responsible for 4.5% of all cases.
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AA Sequence

MSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDNL      1 - 70
SRKVPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPH     71 - 140
PVAVAAPGMPRPPRSLVVFRNGDPKTRRAVLLSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQ    141 - 210
AVILSSGAVVAAGREPFKPGNYDIQKYLLPARLPGISQRVYPKGNAKSESRKISTHMSSSSRSQIYSVSS    211 - 280
EKTHNNDCYLDYSFVPEKYLALEKNDSQNLPIYPSEDDIEKSIIFNQDGTMTVEMKVRFRIKEEETIKWT    281 - 350
TTVSKTGPSNNDEKSEMSFPGRTESRSSGLKLAACSFSADVSPMERSSNQEGSLAEEINIQMTDQVAETC    351 - 420
SSASWENATVDTDIIQGTQDQAKHRFYRPPTPGLRRVRQKKSVIGSVTLVSETEVQEKMIGQFSYSEERE    421 - 490
SGENKSEYHMFTHSCSKMSSVSNKPVLVQINNNDQMEESSLERKKENSLLKSSAISAGVIEITSQKMLEM    491 - 560
SHNNGLPSTISNNSIVEEDVVDCVVLDNKTGIKNFKTYGNTNDRFSPISADATHFSSNNSGTDKNISEAP    561 - 630
ASEASSTVTARIDRLINEFAQCGLTKLPKNEKKILSSVASKKKKKSRQQAINSRYQDGQLATKGILNKNE    631 - 700
RINTKGRITKEMIVQDSDSPLKGGILCEEDLQKSDTVIESNTFCSKSNLNSTISKNFHRNKLNTTQNSKV    701 - 770
QGLLTKRKSRSLNKISLGAPKKREIGQRDKVFPHNESKYCKSTFENKSLFHVFNILEQKPKDFYAPQSQA    771 - 840
EVASGYLRGMAKKSLVSKVTDSHITLKSQKKRKGDKVKASAILSKQHATTRANSLASLKKPDFPEAIAHH    841 - 910
SIQNYIQSWLQNINPYPTLKPIKSAPVCRNETSVVNCSNNSFSGNDPHTNSGKISNFVMESNKHITKIAG    911 - 980
LTGDNLCKEGDKSFIANDTGEEDLHETQVGSLNDAYLVPLHEHCTLSQSAINDHNTKSHIAAEKSGPEKK    981 - 1050
LVYQEINLARKRQSVEAAIQVDPIEEETPKDLLPVLMLHQLQASVPGIHKTQNGVVQMPGSLAGVPFHSA   1051 - 1120
ICNSSTNLLLAWLLVLNLKGSMNSFCQVDAHKATNKSSETLALLEILKHIAITEEADDLKAAVANLVEST   1121 - 1190
TSHFGLSEKEQDMVPIDLSANCSTVNIQSVPKCSENERTQGISSLDGGCSASEACAPEVCVLEVTCSPCE   1191 - 1260
MCTVNKAYSPKETCNPSDTFFPSDGYGVDQTSMNKACFLGEVCSLTDTVFSDKACAQKENHTYEGACPID   1261 - 1330
ETYVPVNVCNTIDFLNSKENTYTDNLDSTEELERGDDIQKDLNILTDPEYKNGFNTLVSHQNVSNLSSCG   1331 - 1400
LCLSEKEAELDKKHSSLDDFENCSLRKFQDENAYTSFDMEEPRTSEEPGSITNSMTSSERNISELESFEE   1401 - 1470
LENHDTDIFNTVVNGGEQATEELIQEEVEASKTLELIDISSKNIMEEKRMNGIIYEIISKRLATPPSLDF   1471 - 1540
CYDSKQNSEKETNEGETKMVKMMVKTMETGSYSESSPDLKKCIKSPVTSDWSDYRPDSDSEQPYKTSSDD   1541 - 1610
PNDSGELTQEKEYNIGFVKRAIEKLYGKADIIKPSFFPGSTRKSQVCPYNSVEFQCSRKASLYDSEGQSF   1611 - 1680
GSSEQVSSSSSMLQEFQEERQDKCDVSAVRDNYCRGDIVEPGTKQNDDSRILTDIEEGVLIDKGKWLLKE   1681 - 1750
NHLLRMSSENPGMCGNADTTSVDTLLDNNSSEVPYSHFGNLAPGPTMDELSSSELEELTQPLELKCNYFN   1751 - 1820
MPHGSDSEPFHEDLLDVRNETCAKERIANHHTEEKGSHQSERVCTSVTHSFISAGNKVYPVSDDAIKNQP   1821 - 1890
LPGSNMIHGTLQEADSLDKLYALCGQHCPILTVIIQPMNEEDRGFAYRKESDIENFLGFYLWMKIHPYLL   1891 - 1960
QTDKNVFREENNKASMRQNLIDNAIGDIFDQFYFSNTFDLMGKRRKQKRINFLGLEEEGNLKKFQPDLKE   1961 - 2030
RFCMNFLHTSLLVVGNVDSNTQDLSGQTNEIFKAVDENNNLLNNRFQGSRTNLNQVVRENINCHYFFEML   2031 - 2100
GQACLLDICQVETSLNISNRNILELCMFEGENLFIWEEEDILNLTDLESSREQEDL                 2101 - 2156
//

Text Mined References (48)

PMID Year Title
25883087 2015 Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.
25692139 2015 Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.
25494902 2014 Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
25088982 2014 A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration.
23940504 2013 Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
23844040 2013 RP1 is a phosphorylation target of CK2 and is involved in cell adhesion.
23077400 2012 Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.
23049240 2012 Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
22927954 2012 Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.
22917891 2012 Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
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