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Protein

Retinitis pigmentosa 1-like 1 protein

Gene

RP1L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Sensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Retinitis pigmentosa 1-like 1 protein
Gene namesi
Name:RP1L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:15946. RP1L1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Occult macular dystrophy (OCMD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. It is typically characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina.
See also OMIM:613587
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451R → W in OCMD. 1 Publication
VAR_065126
Natural varianti960 – 9601W → R in OCMD. 1 Publication
VAR_065127
Natural varianti1199 – 11991S → C in OCMD. 1 Publication
VAR_068350

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiRP1L1.
MIMi613587. phenotype.
Orphaneti247834. Occult macular dystrophy.

Polymorphism and mutation databases

DMDMi317373543.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 24802480Retinitis pigmentosa 1-like 1 proteinPRO_0000097406Add
BLAST

Proteomic databases

PaxDbiQ8IWN7.
PRIDEiQ8IWN7.

PTM databases

iPTMnetiQ8IWN7.
PhosphoSiteiQ8IWN7.

Expressioni

Tissue specificityi

Retinal-specific; expressed in photoreceptor.

Gene expression databases

CleanExiHS_RP1L1.

Interactioni

Subunit structurei

Interacts with RP1; has a synergistic effect with RP1 in photoreceptor differentiation.By similarity

Protein-protein interaction databases

IntActiQ8IWN7. 4 interactions.
MINTiMINT-6602266.
STRINGi9606.ENSP00000371923.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini34 – 11885Doublecortin 1PROSITE-ProRule annotationAdd
BLAST
Domaini152 – 23180Doublecortin 2PROSITE-ProRule annotationAdd
BLAST
Repeati1292 – 1307161-1; approximateAdd
BLAST
Repeati1310 – 1326171-2; approximateAdd
BLAST
Repeati1327 – 1342161-3Add
BLAST
Repeati1343 – 1358161-4Add
BLAST
Repeati1359 – 1374161-5Add
BLAST
Repeati1375 – 1390161-6Add
BLAST
Repeati1391 – 1406161-7Add
BLAST
Repeati1407 – 1422161-8Add
BLAST
Repeati1916 – 1931162-1Add
BLAST
Repeati1932 – 1947162-2Add
BLAST
Repeati1955 – 1970162-3Add
BLAST
Repeati1971 – 1986162-4; approximateAdd
BLAST
Repeati1987 – 2001152-5Add
BLAST
Repeati2003 – 2018162-6; approximateAdd
BLAST
Repeati2019 – 2034162-7Add
BLAST
Repeati2035 – 2050162-8; approximateAdd
BLAST
Repeati2051 – 2064142-9; approximateAdd
BLAST
Repeati2065 – 2080162-10Add
BLAST
Repeati2081 – 2096162-11Add
BLAST
Repeati2097 – 2111152-12; approximateAdd
BLAST
Repeati2113 – 2128162-13Add
BLAST
Repeati2136 – 2151162-14Add
BLAST
Repeati2152 – 2165142-15; approximateAdd
BLAST
Repeati2166 – 2181162-16Add
BLAST
Repeati2182 – 2196152-17Add
BLAST
Repeati2197 – 2212162-18Add
BLAST
Repeati2213 – 2228162-19Add
BLAST
Repeati2229 – 2244162-20Add
BLAST
Repeati2245 – 2260162-21Add
BLAST
Repeati2261 – 2276162-22Add
BLAST
Repeati2277 – 2292162-23Add
BLAST
Repeati2293 – 2308162-24Add
BLAST
Repeati2309 – 2324162-25Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1292 – 14221318 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-KAdd
BLAST
Regioni1916 – 232440925 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]-[AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]-[EGSQDI]-[AVIE]Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1279 – 131335Sequence analysisAdd
BLAST
Coiled coili1633 – 166331Sequence analysisAdd
BLAST
Coiled coili2008 – 209790Sequence analysisAdd
BLAST
Coiled coili2131 – 217141Sequence analysisAdd
BLAST

Domaini

The C-terminal part contains a large repetitive region which contains an unusually high percentage of glutamine, glycine and above all glutamic acid residues.

Sequence similaritiesi

Contains 2 doublecortin domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG3757. Eukaryota.
ENOG410ZE6Q. LUCA.
HOVERGENiHBG079142.
InParanoidiQ8IWN7.
PhylomeDBiQ8IWN7.

Family and domain databases

Gene3Di3.10.20.230. 2 hits.
InterProiIPR003533. Doublecortin_dom.
[Graphical view]
PfamiPF03607. DCX. 2 hits.
[Graphical view]
SMARTiSM00537. DCX. 2 hits.
[Graphical view]
PROSITEiPS50309. DC. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IWN7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNSTPRNAQA PSHRECFLPS VARTPSVTKV TPAKKITFLK RGDPRFAGVR
60 70 80 90 100
LAVHQRAFKT FSALMDELSQ RVPLSFGVRS VTTPRGLHSL SALEQLEDGG
110 120 130 140 150
CYLCSDKKPP KTPSGPGRPQ ERNPTAQQLR DVEGQREAPG TSSSRKSLKT
160 170 180 190 200
PRRILLIKNM DPRLQQTVVL SHRNTRNLAA FLGKASDLLR FPVKQLYTTS
210 220 230 240 250
GKKVDSLQAL LHSPSVLVCA GHEAFRTPAM KNARRSEAET LSGLTSRNKN
260 270 280 290 300
GSWGPKTKPS VIHSRSPPGS TPRLPERPGP SNPPVGPAPG RHPQDTPAQS
310 320 330 340 350
GPLVAGDDMK KKVRMNEDGS LSVEMKVRFH LVGEDTLLWS RRMGRASALT
360 370 380 390 400
AASGEDPVLG EVDPLCCVWE GYPWGFSEPG VWGPRPCRVG CREVFGRGGQ
410 420 430 440 450
PGPKYEIWTN PLHASQGERV AARKRWGLAQ HVRCSGLWGH GTAGRERCSQ
460 470 480 490 500
DSASPASSTG LPEGSEPESS CCPRTPEDGV DSASPSAQIG AERKAGGSLG
510 520 530 540 550
EDPGLCIDGA GLGGPEQGGR LTPRARSEEG ASSDSSASTG SHEGSSEWGG
560 570 580 590 600
RPQGCPGKAR AETSQQEASE GGDPASPALS LSSLRSDDLQ AETQGQGTEQ
610 620 630 640 650
ATGAAVTREP LVLGLSCSWD SEGASSTPST CTSSQQGQRR HRSRASAMSS
660 670 680 690 700
PSSPGLGRVA PRGHPRHSHY RKDTHSPLDS SVTKQVPRPP ERRRACQDGS
710 720 730 740 750
VPRYSGSSSS TRTQASGNLR PPSSGSLPSQ DLLGTSSATV TPAVHSDFVS
760 770 780 790 800
GVSPHNAPSA GWAGDAGSRT CSPAPIPPHT SDSCSKSGAA SLGEEARDTP
810 820 830 840 850
QPSSPLVLQV GRPEQGAVGP HRSHCCSQPG TQPAQEAQRG PSPEASWLCG
860 870 880 890 900
RYCPTPPRGR PCPQRRSSSC GSTGSSHQST ARGPGGSPQE GTRQPGPTPS
910 920 930 940 950
PGPNSGASRR SSASQGAGSR GLSEEKTLRS GGGPQGQEEA SGVSPSSLPR
960 970 980 990 1000
SSPEAVVREW LDNIPEEPIL MTYELADETT GAAGGGLRGP EVDPGDDHSL
1010 1020 1030 1040 1050
EGLGEPAQAG QQSLEGDPGQ DPEPEGALLG SSDTGPQSGE GVPQGAAPEG
1060 1070 1080 1090 1100
VSEAPAEAGA DREAPAGCRV SLRALPGRVS ASTQIMRALM GSKQGRPSSV
1110 1120 1130 1140 1150
PEVSRPMARR LSCSAGALIT CLASLQLFEE DLGSPASKVR FKDSPRYQEL
1160 1170 1180 1190 1200
LSISKDLWPG CDVGEDQLDS GLWELTWSQA LPDLGSHAMT ENFTPTSSSG
1210 1220 1230 1240 1250
VDISSGSGGS GESSVPCAMD GTLVTQGTEL PLKTSNQRPD SRTYESPGDL
1260 1270 1280 1290 1300
ENQQQCCFPT FLNARACACA TNEDEAERDS EEQRASSNLE QLAENTVQEE
1310 1320 1330 1340 1350
VQLEETKEGT EGEGLQEEGV QLEETKTEEG LQEEGVQLEE TKTEEGLQEE
1360 1370 1380 1390 1400
GVQLEETKTE EGLQEEGVQL EETKTEEGLQ EEGVQLEETK TEEGLQEEGV
1410 1420 1430 1440 1450
QLEETKTEEG LQEEGVQLEG TKETEGEGQQ EEEAQLEEIE ETGGEGLQEE
1460 1470 1480 1490 1500
GVQLEEVKEG PEGGLQGEAL EEGLKEEGLP EEGSVHGQEL SEASSPDGKG
1510 1520 1530 1540 1550
SQEDDPVQEE EAGRASASAE PCPAEGTEEP TEPPSHLSET DPSASERQSG
1560 1570 1580 1590 1600
SQLEPGLEKP PGATMMGQEH TQAQPTQGAA ERSSSVACSA ALDCDPIWVS
1610 1620 1630 1640 1650
VLLKKTEKAF LAHLASAVAE LRARWGLQDN DLLDQMAAEL QQDVAQRLQD
1660 1670 1680 1690 1700
STKRELQKLQ GRAGRMVLEP PREALTGELL LQTQQRRHRL RGLRNLSAFS
1710 1720 1730 1740 1750
ERTLGLGPLS FTLEDEPALS TALGSQLGEE AEGEEFCPCE ACVRKKVSPM
1760 1770 1780 1790 1800
SPKATMGATR GPIKEAFDLQ QILQRKRGEH TDGEAAEVAP GKTHTDPTST
1810 1820 1830 1840 1850
RTVQGAEGGL GPGLSQGPGV DEGEDGEGSQ RLNRDKDPKL GEAEGDAMAQ
1860 1870 1880 1890 1900
EREGKTHNSE TSAGSELGEA EQEGEGISER GETGGQGSGH EDNLQGEAAA
1910 1920 1930 1940 1950
GGDQDPGQSD GAEGIEAPEA EGEAQPESEG VEAPEAEGDA QEAEGEAQPE
1960 1970 1980 1990 2000
SEDVEAPEAE GEAQPESEDV ETPEAEWEVQ PESEGAEAPE AEKEAQPETE
2010 2020 2030 2040 2050
SVEALETEGE DEPESEGAEA QEAEEAAQEA EGQTQPESEV IESQEAEEEA
2060 2070 2080 2090 2100
QPESEDVEAL EVEVETQEAE GEAQPESEDV EAPEAEGEMQ EAEEEAQPES
2110 2120 2130 2140 2150
DGVEAQPKSE GEEAQEVEGE TQKTEGDAQP ESDGVEAPEA EEEAQEAEGE
2160 2170 2180 2190 2200
VQEAEGEAHP ESEDVDAQEA EGEAQPESEG VEAPEAEGEA QKAEGIEAPE
2210 2220 2230 2240 2250
TEGEAQPESE GIEAPEAEGE AQPESEGVEA QDAEGEAQPE SEGIEAQEAE
2260 2270 2280 2290 2300
EEAQPELEGV EAPEAEGEAQ PESEGIEAPE AEGEAQPELE GVEAPEAEEE
2310 2320 2330 2340 2350
AQPEPEGVET PEAEGEAQPE SEGETQGEKK GSPQVSLGDG QSEEASESSS
2360 2370 2380 2390 2400
PVPEDRPTPP PSPGGDTPHQ RPGSQTGPSS SRASSWGNCW QKDSENDHVL
2410 2420 2430 2440 2450
GDTRSPDAKS TGTPHAERKA TRMYPESSTS EQEEAPLGSR TPEQGASEGY
2460 2470 2480
DLQEDQALGS LAPTEAVGRA DGFGQDDLDF
Length:2,480
Mass (Da):261,207
Last modified:January 11, 2011 - v4
Checksum:iDA8DB5A2EB3F92A2
GO
Isoform 2 (identifier: Q8IWN7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-222: DSLQALLHSPSVLVCAGH → LPDMKFHQRSAEWRMEVD
     223-2480: Missing.

Note: No experimental confirmation available.
Show »
Length:222
Mass (Da):24,855
Checksum:iC648892D390E792C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti514 – 5141G → S in CAD36957 (PubMed:12634863).Curated
Sequence conflicti1367 – 13671G → A in AAN86961 (PubMed:12724644).Curated
Sequence conflicti1372 – 13721E → G in AAN86961 (PubMed:12724644).Curated
Sequence conflicti1383 – 13831G → R in AAN86961 (PubMed:12724644).Curated
Sequence conflicti1399 – 13991G → R in AAN86960 (PubMed:12724644).Curated

Polymorphismi

The exact length of RP1L1 is variable between individuals due to the presence of several length polymorphisms. The sequence shown here is that of allele RP1L1-6 and includes 8 repeats (from aa 1292-1422) with a length of 16 amino acids. The number of repeats is highly polymorphic and varies among different alleles, ranging from 3 to 8.1 Publication

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441P → A.
VAR_017700
Natural varianti45 – 451R → W in OCMD. 1 Publication
VAR_065126
Natural varianti56 – 561R → C.
VAR_017701
Natural varianti112 – 1121T → S.
Corresponds to variant rs6601495 [ dbSNP | Ensembl ].
VAR_017702
Natural varianti136 – 1361R → H.
VAR_017703
Natural varianti222 – 2221H → P.
Corresponds to variant rs4388421 [ dbSNP | Ensembl ].
VAR_056979
Natural varianti487 – 4871A → V.
VAR_017704
Natural varianti624 – 6241A → T.
VAR_017705
Natural varianti792 – 7921L → P.1 Publication
Corresponds to variant rs35602868 [ dbSNP | Ensembl ].
VAR_017706
Natural varianti795 – 7951E → K.
VAR_017707
Natural varianti860 – 8601R → W.
VAR_017708
Natural varianti960 – 9601W → R in OCMD. 1 Publication
VAR_065127
Natural varianti1146 – 11461R → W.1 Publication
Corresponds to variant rs4840502 [ dbSNP | Ensembl ].
VAR_017709
Natural varianti1199 – 11991S → C in OCMD. 1 Publication
VAR_068350
Natural varianti1285 – 12851A → S in allele RP1L1-3. 1 Publication
VAR_017710
Natural varianti1319 – 13191G → A in allele RP1L1-3. 1 Publication
Corresponds to variant rs4840501 [ dbSNP | Ensembl ].
VAR_017711
Natural varianti1324 – 13241E → G in allele RP1L1-3.
Corresponds to variant rs4240659 [ dbSNP | Ensembl ].
VAR_017712
Natural varianti1327 – 140680Missing in allele RP1L1-1.
VAR_017714Add
BLAST
Natural varianti1327 – 13282TE → VI in allele RP1L1-3.
VAR_017713
Natural varianti1335 – 13351G → R in allele RP1L1-2 and allele RP1L1-3.
Corresponds to variant rs61503212 [ dbSNP | Ensembl ].
VAR_017715
Natural varianti1340 – 13401E → G.
Corresponds to variant rs9657518 [ dbSNP | Ensembl ].
VAR_056980
Natural varianti1343 – 140664Missing in allele RP1L1-2.
VAR_017716Add
BLAST
Natural varianti1359 – 140648Missing in allele RP1L1-3.
VAR_017717Add
BLAST
Natural varianti1375 – 140632Missing in allele RP1L1-4.
VAR_017718Add
BLAST
Natural varianti1391 – 140616Missing in allele RP1L1-5.
VAR_017719Add
BLAST
Natural varianti1420 – 14201G → E in allele RP1L1-1 and allele RP1L1-2. 2 Publications
VAR_017720
Natural varianti1547 – 15471R → S.1 Publication
Corresponds to variant rs4840498 [ dbSNP | Ensembl ].
VAR_047388
Natural varianti1563 – 15631A → V.
VAR_017721
Natural varianti1575 – 15751P → R.
VAR_017722
Natural varianti1585 – 15851S → L.
VAR_017723
Natural varianti1658 – 16581K → KK.
VAR_017724
Natural varianti1789 – 17891A → V.
VAR_017725
Natural varianti1896 – 18961G → D.
VAR_017726
Natural varianti1942 – 19487Missing .
VAR_017727
Natural varianti1969 – 19691D → V.
VAR_017728
Natural varianti2026 – 20261A → E.1 Publication
Corresponds to variant rs11785822 [ dbSNP | Ensembl ].
VAR_017729
Natural varianti2034 – 20341T → A.1 Publication
VAR_017730
Natural varianti2149 – 21491G → V.
VAR_017731
Natural varianti2168 – 21681Q → H.
VAR_017732
Natural varianti2171 – 21711E → K.
Corresponds to variant rs4354268 [ dbSNP | Ensembl ].
VAR_056981
Natural varianti2220 – 22201E → K.
VAR_017733
Natural varianti2251 – 22511E → K.1 Publication
Corresponds to variant rs4354268 [ dbSNP | Ensembl ].
VAR_017734
Natural varianti2279 – 22791P → L.
VAR_017735
Natural varianti2322 – 23221E → G.1 Publication
VAR_017736
Natural varianti2365 – 23651G → R.
VAR_017737
Natural varianti2415 – 24151H → R.
VAR_017738

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei205 – 22218DSLQA…VCAGH → LPDMKFHQRSAEWRMEVD in isoform 2. 1 PublicationVSP_009382Add
BLAST
Alternative sequencei223 – 24802258Missing in isoform 2. 1 PublicationVSP_009383Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY168341 mRNA. Translation: AAN86959.1.
AY168342 mRNA. Translation: AAN86960.1.
AY168343 mRNA. Translation: AAN86961.1.
AY168344 mRNA. Translation: AAN86962.1.
AY168345 mRNA. Translation: AAN86963.1.
AY168346 mRNA. Translation: AAN86964.1.
AJ491324 mRNA. Translation: CAD36957.1.
AK127545 mRNA. No translation available.
AC104964 Genomic DNA. No translation available.
AC105001 Genomic DNA. No translation available.
UniGeneiHs.33538.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY168341 mRNA. Translation: AAN86959.1.
AY168342 mRNA. Translation: AAN86960.1.
AY168343 mRNA. Translation: AAN86961.1.
AY168344 mRNA. Translation: AAN86962.1.
AY168345 mRNA. Translation: AAN86963.1.
AY168346 mRNA. Translation: AAN86964.1.
AJ491324 mRNA. Translation: CAD36957.1.
AK127545 mRNA. No translation available.
AC104964 Genomic DNA. No translation available.
AC105001 Genomic DNA. No translation available.
UniGeneiHs.33538.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8IWN7. 4 interactions.
MINTiMINT-6602266.
STRINGi9606.ENSP00000371923.

PTM databases

iPTMnetiQ8IWN7.
PhosphoSiteiQ8IWN7.

Polymorphism and mutation databases

DMDMi317373543.

Proteomic databases

PaxDbiQ8IWN7.
PRIDEiQ8IWN7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Organism-specific databases

GeneCardsiRP1L1.
H-InvDBHIX0028078.
HGNCiHGNC:15946. RP1L1.
MalaCardsiRP1L1.
MIMi608581. gene.
613587. phenotype.
neXtProtiNX_Q8IWN7.
Orphaneti247834. Occult macular dystrophy.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3757. Eukaryota.
ENOG410ZE6Q. LUCA.
HOVERGENiHBG079142.
InParanoidiQ8IWN7.
PhylomeDBiQ8IWN7.

Miscellaneous databases

PROiQ8IWN7.
SOURCEiSearch...

Gene expression databases

CleanExiHS_RP1L1.

Family and domain databases

Gene3Di3.10.20.230. 2 hits.
InterProiIPR003533. Doublecortin_dom.
[Graphical view]
PfamiPF03607. DCX. 2 hits.
[Graphical view]
SMARTiSM00537. DCX. 2 hits.
[Graphical view]
PROSITEiPS50309. DC. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene."
    Bowne S.J., Daiger S.P., Malone K.A., Heckenlively J.R., Kennan A., Humphries P., Hughbanks-Wheaton D., Birch D.G., Liu Q., Pierce E.A., Zuo J., Huang Q., Donovan D.D., Sullivan L.S.
    Mol. Vis. 9:129-137(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS PRO-792; TRP-1146; SER-1285; 1327-VAL-ILE-1328; GLU-1420; SER-1547; GLU-2026; ALA-2034; LYS-2251 AND GLY-2322, POLYMORPHISM.
  2. "Identification and characterization of the retinitis pigmentosa 1-like1 gene (rp1l1): a novel candidate for retinal degenerations."
    Conte I., Lestingi M., den Hollander A., Alfano G., Ziviello C., Pugliese M., Circolo D., Caccioppoli C., Ciccodicola A., Banfi S.
    Eur. J. Hum. Genet. 11:155-162(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Retina.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Colon.
  4. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ALA-1319 AND GLU-1420.
  5. Cited for: VARIANTS OCMD TRP-45 AND ARG-960.
  6. "A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms."
    Kabuto T., Takahashi H., Goto-Fukuura Y., Igarashi T., Akahori M., Kameya S., Iwata T., Mizota A., Yamaki K., Miyake Y., Takahashi H.
    Mol. Vis. 18:1031-1039(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OCMD CYS-1199.

Entry informationi

Entry nameiRP1L1_HUMAN
AccessioniPrimary (citable) accession number: Q8IWN7
Secondary accession number(s): Q86SQ1
, Q8IWN8, Q8IWN9, Q8IWP0, Q8IWP1, Q8IWP2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: January 11, 2011
Last modified: May 11, 2016
This is version 103 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.