RP1L1_MOUSE
ID RP1L1_MOUSE Reviewed; 1859 AA.
AC Q8CGM2; Q8K0I4;
DT 16-FEB-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Retinitis pigmentosa 1-like 1 protein;
DE AltName: Full=Retinitis pigmentosa 1-like protein 1;
GN Name=Rp1l1; Synonyms=Rp1hl1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=12724644;
RA Bowne S.J., Daiger S.P., Malone K.A., Heckenlively J.R., Kennan A.,
RA Humphries P., Hughbanks-Wheaton D., Birch D.G., Liu Q., Pierce E.A.,
RA Zuo J., Huang Q., Donovan D.D., Sullivan L.S.;
RT "Characterization of RP1L1, a highly polymorphic paralog of the retinitis
RT pigmentosa 1 (RP1) gene.";
RL Mol. Vis. 9:129-137(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC STRAIN=BALB/cJ; TISSUE=Retina;
RX PubMed=12634863; DOI=10.1038/sj.ejhg.5200942;
RA Conte I., Lestingi M., den Hollander A., Alfano G., Ziviello C.,
RA Pugliese M., Circolo D., Caccioppoli C., Ciccodicola A., Banfi S.;
RT "Identification and characterization of the retinitis pigmentosa 1-like1
RT gene (rp1l1): a novel candidate for retinal degenerations.";
RL Eur. J. Hum. Genet. 11:155-162(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1216-1859.
RC TISSUE=Retina;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE, AND INTERACTION WITH
RP RP1.
RX PubMed=19657028; DOI=10.1523/jneurosci.5854-08.2009;
RA Yamashita T., Liu J., Gao J., LeNoue S., Wang C., Kaminoh J., Bowne S.J.,
RA Sullivan L.S., Daiger S.P., Zhang K., Fitzgerald M.E., Kefalov V.J.,
RA Zuo J.;
RT "Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor
RT axoneme and retinitis pigmentosa.";
RL J. Neurosci. 29:9748-9760(2009).
CC -!- FUNCTION: Required for the differentiation of photoreceptor cells.
CC Plays a role in the organization of outer segment of rod and cone
CC photoreceptors. {ECO:0000269|PubMed:19657028}.
CC -!- SUBUNIT: Interacts with RP1; has a synergistic effect with RP1 in
CC photoreceptor differentiation. {ECO:0000269|PubMed:19657028}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:19657028}. Cell projection, cilium, photoreceptor
CC outer segment {ECO:0000269|PubMed:19657028}. Note=Localized to the
CC axoneme of outer segments and connecting cilia in rod photoreceptors.
CC -!- TISSUE SPECIFICITY: Retinal-specific; expressed in photoreceptor.
CC -!- DEVELOPMENTAL STAGE: Detected in retina at birth but not at prenatal
CC stages.
CC -!- DISRUPTION PHENOTYPE: Mice display scattered outer segment
CC disorganization, reduced electroretinogram amplitudes, and progressive
CC photoreceptor degeneration. In single rods defective cells
CC photosensitivity is reduced. Rp1 and Rp1l1 double heterozygotes
CC exhibits abnormal outer segment morphology and reduced single rod
CC photosensitivity and dark currents, while individual heterozygotes are
CC normal. {ECO:0000269|PubMed:19657028}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH31365.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY168340; AAN86958.1; -; mRNA.
DR EMBL; AJ491325; CAD36958.1; -; mRNA.
DR EMBL; BC031365; AAH31365.1; ALT_INIT; mRNA.
DR CCDS; CCDS36951.1; -.
DR RefSeq; NP_666358.2; NM_146246.3.
DR AlphaFoldDB; Q8CGM2; -.
DR SMR; Q8CGM2; -.
DR BioGRID; 234831; 3.
DR STRING; 10090.ENSMUSP00000055449; -.
DR iPTMnet; Q8CGM2; -.
DR PhosphoSitePlus; Q8CGM2; -.
DR PaxDb; Q8CGM2; -.
DR PRIDE; Q8CGM2; -.
DR ProteomicsDB; 260832; -.
DR Antibodypedia; 77523; 8 antibodies from 4 providers.
DR Ensembl; ENSMUST00000058229; ENSMUSP00000055449; ENSMUSG00000046049.
DR GeneID; 271209; -.
DR KEGG; mmu:271209; -.
DR UCSC; uc007uia.1; mouse.
DR CTD; 94137; -.
DR MGI; MGI:2384303; Rp1l1.
DR VEuPathDB; HostDB:ENSMUSG00000046049; -.
DR eggNOG; KOG3757; Eukaryota.
DR GeneTree; ENSGT00940000154242; -.
DR HOGENOM; CLU_001096_0_0_1; -.
DR InParanoid; Q8CGM2; -.
DR OMA; SVPCAMD; -.
DR OrthoDB; 79495at2759; -.
DR PhylomeDB; Q8CGM2; -.
DR TreeFam; TF318770; -.
DR BioGRID-ORCS; 271209; 4 hits in 71 CRISPR screens.
DR PRO; PR:Q8CGM2; -.
DR Proteomes; UP000000589; Chromosome 14.
DR RNAct; Q8CGM2; protein.
DR Bgee; ENSMUSG00000046049; Expressed in retinal neural layer and 13 other tissues.
DR ExpressionAtlas; Q8CGM2; baseline and differential.
DR GO; GO:0005930; C:axoneme; IDA:UniProtKB.
DR GO; GO:0032391; C:photoreceptor connecting cilium; IDA:UniProtKB.
DR GO; GO:0001750; C:photoreceptor outer segment; IDA:UniProtKB.
DR GO; GO:0035082; P:axoneme assembly; IBA:GO_Central.
DR GO; GO:0035556; P:intracellular signal transduction; IEA:InterPro.
DR GO; GO:0042461; P:photoreceptor cell development; IMP:UniProtKB.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IMP:UniProtKB.
DR GO; GO:0060041; P:retina development in camera-type eye; IBA:GO_Central.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR Gene3D; 3.10.20.230; -; 2.
DR InterPro; IPR003533; Doublecortin_dom.
DR InterPro; IPR036572; Doublecortin_dom_sf.
DR InterPro; IPR040163; RP1/RP1L1/DCX.
DR PANTHER; PTHR23005; PTHR23005; 1.
DR Pfam; PF03607; DCX; 2.
DR SMART; SM00537; DCX; 2.
DR SUPFAM; SSF89837; SSF89837; 2.
DR PROSITE; PS50309; DC; 2.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cilium biogenesis/degradation; Cytoplasm;
KW Cytoskeleton; Reference proteome; Repeat; Sensory transduction; Vision.
FT CHAIN 1..1859
FT /note="Retinitis pigmentosa 1-like 1 protein"
FT /id="PRO_0000097407"
FT DOMAIN 42..126
FT /note="Doublecortin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00072"
FT DOMAIN 160..239
FT /note="Doublecortin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00072"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 115..154
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 263..301
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 426..445
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 457..593
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 700..750
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 868..920
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 952..997
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1152..1211
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1227..1255
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1298..1350
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1567..1859
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 279..293
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 457..476
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 500..517
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 532..547
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 562..593
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 709..750
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 868..885
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1152..1179
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1333..1350
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1608..1632
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1697..1720
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1721..1741
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1752..1782
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1793..1809
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1859 AA; 199686 MW; ED885DA0FAF6E6E9 CRC64;
MNSTPGDTRD APAPSHPAPS HRQCLLPSVA HTPSVTEVTP AKKITFLKRG DPQFAGVRLA
VHQRTFKTFS SLMDELSQRM PLSFGVRSVT TPRGLHGLSA LEQLQDGGCY LCSDRKPPKT
SREPGRLQRK SPSAGQAQVF QGGHEAPETS YSWKGPVAPR RLTLVKNGDP RRQQTVVLSH
KNTRSLAAFL GKASELLRFP VKQVYTTRGK KVDSLQTLLD GPSVLVCAGN EAFRCLEMEN
DRGNRTRKLS SVTARSERGC WGPNAKQSVI HSRGRSGGKL RQVSLTSERS GLSDHPASGH
RAWAGPALDR CPQDMPVPPG SLVAADDVEK KVCMNEDGSL SVEMKVRFQL LGEDTLRWSQ
RVGQASVFTA ASGKGQDPRE ADRFCCRQEG YPWGILKPGA QGLGSYDGGC QEAFDVGQKS
QPSYDIWRNP LATPEGTGPT PRRRWGLAKL SGCKSHWRQE ANHRKGHDKD NLSRVSTPRH
PRSVQPGSCC PWTPDGDTGS DTLHPVSSAS SHNETDLESG EGLCLEDTGP HGSRPETQST
ERALSDTSVS AKSREESSEG GGQLHRSSSQ ARVMASREQV TKGDNPCIST QSHLPLNHMG
LQTEKYRQGT RGWEVSGEPE LRLALVPGHS GSQDTQRDAL PAPACAPAQW RQRKQKRPAS
VECLPSVSVP YQVAQKGHAR QDHYYRDTQS SLDTALQMPM PQEREQACPG SPAPQSPSNS
PSAGNQASED LRSPFSSSLD LQEPQATSKA TTIAVSGSDC VCHSTRSVEP AGDTKCQAHS
STPTPAHRGE LGCLWDKAGT TPEPFSFSVL LDRCPEADDP RTYHDCCCLQ AVPSSPLAAP
SGQTQTSISE ACLGGSSFCP TPPKEQTCFG RESASNGSTS SGHSRADGFA GPRRTLLVKS
PGVRGSLEER EADGGVTPSA LPYASPDAVV REWLGNIPEK PVLMTYEMAD ENTEVPSDGP
EGPKEDSLKV LGEPSQAKQQ PPEGATNEHP EPAGVLSGPG SVCCRLGGDL HPDATSGERL
KAPAEAGIGE GARVDHGVSL CALPTKVAAS TQIMKALLGS KPGRPSSLPE VSSTVAQRLS
SSAGAFIACL ARLHFFDESL GPLDGKVRLE ESPKYQEMLR LFQTLWPGSE LWQGQLDFSL
RKLTSHQALL GTEDFTPTSS SGVDVSSGSG GSGESSVPCV MDNTLAPEKR DLPLKIPSQR
PDSRNQGYPE LVGHSTVSSV SQVRACATGG EETGKGGRKQ TWGNAPEQSV HSTMLEGDAL
SEETEGRVRE RLQENSVHGK GLPEEGVRVC SQEMLAAGSQ DGAGSPEDTR VPTDEAGADA
ASGGLWPLDG REEPTESPQH FSESNSRVRE HQSAHKLELG LEEVSRLDAR GCKQACIKAS
SGTMAHKGSL DPDPIWVSKL LKKIEKAFMA HLADATAELR ARWDLHDNHL LDQMVTELEQ
DVGRRLQAST VMEVRKIQSR AGRMVPEPPR EALRGQASLQ TEQRRRRLQG LRNFSAVPGQ
GPLSLTLEDG PTLKTALGTK SGAEPAEDEF CPCEICLKKK RTPRFPKDAA TVSGAPVRKA
FDLQQILQSK KGGSSNREAM EVAPQRTGRM LSQEDLGTVQ GADEKQGLGV AEGEEGEGKQ
RLRAEEDPEI LKTEGSGCCA PEEDEATEED GEICIGTAQE SQQLEGTEMG KEGTLPQSFR
DGGTLEAPAR QGTHSVEIQE ASRERQQEVE GRHQDVKEDS PWVSSGESQG RVGSENTSLD
QEGRLLNHHQ RPGPQSHHTA CSSRALSLDN SSQVSQKGSD GDLTSGDLKC TKAKNSRVLH
AEKKVPVMYP ERSSSEQEVP SSPRLPKQGK GEDEGSAGSL ACTQVGGKVD GFGQDDLDF
