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Protein

Retinitis pigmentosa 1-like 1 protein

Gene

RP1L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processCilium 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: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000183638.5
HGNCiHGNC:15946 RP1L1
MIMi608581 gene
neXtProtiNX_Q8IWN7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06512645R → W in OCMD. 1 Publication1
Natural variantiVAR_065127960W → R in OCMD. 1 Publication1
Natural variantiVAR_0683501199S → C in OCMD. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi94137
MalaCardsiRP1L1
MIMi613587 phenotype
OpenTargetsiENSG00000183638
Orphaneti247834 Occult macular dystrophy

Polymorphism and mutation databases

DMDMi317373543

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000974061 – 2400Retinitis pigmentosa 1-like 1 proteinAdd BLAST2400

Proteomic databases

PaxDbiQ8IWN7
PeptideAtlasiQ8IWN7
PRIDEiQ8IWN7

PTM databases

iPTMnetiQ8IWN7
PhosphoSitePlusiQ8IWN7

Expressioni

Tissue specificityi

Retinal-specific; expressed in photoreceptor.

Gene expression databases

CleanExiHS_RP1L1

Organism-specific databases

HPAiHPA024686
HPA024744

Interactioni

Subunit structurei

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

Protein-protein interaction databases

IntActiQ8IWN7, 4 interactors
MINTiQ8IWN7
STRINGi9606.ENSP00000371923

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 118Doublecortin 1PROSITE-ProRule annotationAdd BLAST85
Domaini152 – 231Doublecortin 2PROSITE-ProRule annotationAdd BLAST80
Repeati1292 – 13071-1; approximateAdd BLAST16
Repeati1310 – 13261-2; approximateAdd BLAST17
Repeati1327 – 13421-3Add BLAST16
Repeati1836 – 18512-1Add BLAST16
Repeati1852 – 18672-2Add BLAST16
Repeati1875 – 18902-3Add BLAST16
Repeati1891 – 19062-4; approximateAdd BLAST16
Repeati1907 – 19212-5Add BLAST15
Repeati1923 – 19382-6; approximateAdd BLAST16
Repeati1939 – 19542-7Add BLAST16
Repeati1955 – 19702-8; approximateAdd BLAST16
Repeati1971 – 19842-9; approximateAdd BLAST14
Repeati1985 – 20002-10Add BLAST16
Repeati2001 – 20162-11Add BLAST16
Repeati2017 – 20312-12; approximateAdd BLAST15
Repeati2033 – 20482-13dAdd BLAST16
Repeati2056 – 20712-14Add BLAST16
Repeati2072 – 20852-15; approximateAdd BLAST14
Repeati2086 – 21012-16Add BLAST16
Repeati2102 – 21162-17Add BLAST15
Repeati2117 – 21322-18Add BLAST16
Repeati2133 – 21482-19Add BLAST16
Repeati2149 – 21642-20Add BLAST16
Repeati2165 – 21802-21Add BLAST16
Repeati2181 – 21962-22Add BLAST16
Repeati2197 – 22122-23Add BLAST16
Repeati2213 – 22282-24Add BLAST16
Repeati2229 – 22442-25Add BLAST16

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1292 – 13423 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-KAdd BLAST51
Regioni1836 – 224425 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]-[AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]-[EGSQDI]-[AVIE]Add BLAST409

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1934 – 2017Sequence analysisAdd BLAST84
Coiled coili2054 – 2081Sequence analysisAdd BLAST28

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1273 – 2248Glu-richPROSITE-ProRule annotationAdd BLAST976
Compositional biasi1725 – 1834Gly-richPROSITE-ProRule annotationAdd BLAST110

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.

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG3757 Eukaryota
ENOG410ZE6Q LUCA
GeneTreeiENSGT00880000138001
HOVERGENiHBG079142
InParanoidiQ8IWN7
KOiK19538
OMAiEEFCPCE
PhylomeDBiQ8IWN7

Family and domain databases

CDDicd01617 DCX, 1 hit
Gene3Di3.10.20.230, 2 hits
InterProiView protein in InterPro
IPR003533 Doublecortin_dom
IPR036572 Doublecortin_dom_sf
PfamiView protein in Pfam
PF03607 DCX, 2 hits
SMARTiView protein in SMART
SM00537 DCX, 2 hits
SUPFAMiSSF89837 SSF89837, 2 hits
PROSITEiView protein in PROSITE
PS50309 DC, 2 hits

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 EGEGLQEEAV QLEETKTEEG LQEEGVQLEE TKETEGEGQQ
1360 1370 1380 1390 1400
EEEAQLEEIE ETGGEGLQEE GVQLEEVKEG PEGGLQGEAL EEGLKEEGLP
1410 1420 1430 1440 1450
EEGSVHGQEL SEASSPDGKG SQEDDPVQEE EAGRASASAE PCPAEGTEEP
1460 1470 1480 1490 1500
TEPPSHLSET DPSASERQSG SQLEPGLEKP PGATMMGQEH TQAQPTQGAA
1510 1520 1530 1540 1550
ERSSSVACSA ALDCDPIWVS VLLKKTEKAF LAHLASAVAE LRARWGLQDN
1560 1570 1580 1590 1600
DLLDQMAAEL QQDVAQRLQD STKRELQKLQ GRAGRMVLEP PREALTGELL
1610 1620 1630 1640 1650
LQTQQRRHRL RGLRNLSAFS ERTLGLGPLS FTLEDEPALS TALGSQLGEE
1660 1670 1680 1690 1700
AEGEEFCPCE ACVRKKVSPM SPKATMGATR GPIKEAFDLQ QILQRKRGEH
1710 1720 1730 1740 1750
TDGEAAEVAP GKTHTDPTST RTVQGAEGGL GPGLSQGPGV DEGEDGEGSQ
1760 1770 1780 1790 1800
RLNRDKDPKL GEAEGDAMAQ EREGKTHNSE TSAGSELGEA EQEGEGISER
1810 1820 1830 1840 1850
GETGGQGSGH EDNLQGEAAA GGDQDPGQSD GAEGIEAPEA EGEAQPESEG
1860 1870 1880 1890 1900
VEAPEAEGDA QEAEGEAQPE SEDVEAPEAE GEAQPESEDV ETPEAEWEVQ
1910 1920 1930 1940 1950
PESEGAEAPE AEKEAQPETE SVEALETEGE DEPESEGAEA QEAEEAAQEA
1960 1970 1980 1990 2000
EGQTQPESEV IESQEAEEEA QPESEDVEAL EVEVETQEAE GEAQPESEDV
2010 2020 2030 2040 2050
EAPEAEGEMQ EAEEEAQPES DGVEAQPKSE GEEAQEVEGE TQKTEGDAQP
2060 2070 2080 2090 2100
ESDGVEAPEA EEEAQEAEGE VQEAEGEAHP ESEDVDAQEA EGEAQPESEG
2110 2120 2130 2140 2150
VEAPEAEGEA QKAEGIEAPE TEGEAQPESE GIEAPEAEGE AQPESEGVEA
2160 2170 2180 2190 2200
QDAEGEAQPE SEGIEAQEAE EEAQPELEGV EAPEAEGEAQ PESEGIEAPE
2210 2220 2230 2240 2250
AEGEAQPELE GVEAPEAEEE AQPEPEGVET PEAEGEAQPE SEGETQGEKK
2260 2270 2280 2290 2300
GSPQVSLGDG QSEEASESSS PVPEDRPTPP PSPGGDTPHQ RPGSQTGPSS
2310 2320 2330 2340 2350
SRASSWGNCW QKDSENDHVL GDTRSPDAKS TGTPHAERKA TRMYPESSTS
2360 2370 2380 2390 2400
EQEEAPLGSR TPEQGASEGY DLQEDQALGS LAPTEAVGRA DGFGQDDLDF
Length:2,400
Mass (Da):252,289
Last modified:March 28, 2018 - v5
Checksum:iC3E01F19DDB6D04E
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
     223-2400: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:222
Mass (Da):24,855
Checksum:iC648892D390E792C
GO

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 RP1L1-1 and includes 3 repeats (from aa 1292-1342) 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01770044P → A. 1
Natural variantiVAR_06512645R → W in OCMD. 1 Publication1
Natural variantiVAR_01770156R → C. 1
Natural variantiVAR_017702112T → S. Corresponds to variant dbSNP:rs6601495EnsemblClinVar.1
Natural variantiVAR_017703136R → H. 1
Natural variantiVAR_056979222H → P. Corresponds to variant dbSNP:rs4388421EnsemblClinVar.1
Natural variantiVAR_017704487A → V. 1
Natural variantiVAR_080211514G → S1 PublicationCorresponds to variant dbSNP:rs74990397EnsemblClinVar.1
Natural variantiVAR_017705624A → T. 1
Natural variantiVAR_017706792L → P1 PublicationCorresponds to variant dbSNP:rs35602868EnsemblClinVar.1
Natural variantiVAR_017707795E → K. 1
Natural variantiVAR_017708860R → W. 1
Natural variantiVAR_065127960W → R in OCMD. 1 Publication1
Natural variantiVAR_0177091146R → W1 PublicationCorresponds to variant dbSNP:rs4840502EnsemblClinVar.1
Natural variantiVAR_0683501199S → C in OCMD. 1 Publication1
Natural variantiVAR_0177101285A → S in allele RP1L1-3. 1 Publication1
Natural variantiVAR_0802151313E → EGVQLEETKTEEGLQEE in allele RP1L1-2. 1 Publication1
Natural variantiVAR_0802121313E → EGVQLEETKTEEGLQEEGVQ LEETKTEEGLQEE in allele RP1L1-3. 1 Publication1
Natural variantiVAR_0802161313E → EGVQLEETKTEEGLQEEGVQ LEETKTEEGLQEEGVQLEET KTEEGLQEE in allele RP1L1-4. 1 Publication1
Natural variantiVAR_0802141313E → EGVQLEETKTEEGLQEEGVQ LEETKTEEGLQEEGVQLEET KTEEGLQEEGVQLEETKTEE GLQEE in allele RP1L1-5. 1 Publication1
Natural variantiVAR_0802131313E → EGVQLEETKTEEGLQEEGVQ LEETKTEEGLQEEGVQLEET KTEEGLQEEGVQLEETKTEE GLQEEGVQLEETKTEEGLQE E in allele RP1L1-6. 1 Publication1
Natural variantiVAR_0802171319A → G2 PublicationsCorresponds to variant dbSNP:rs4840501EnsemblClinVar.1
Natural variantiVAR_0177121324E → G in allele RP1L1-3. Corresponds to variant dbSNP:rs4240659EnsemblClinVar.1
Natural variantiVAR_0177131327 – 1328TE → VI in allele RP1L1-3. 2
Natural variantiVAR_0177151335G → R in allele RP1L1-2 and allele RP1L1-3. Corresponds to variant dbSNP:rs61503212EnsemblClinVar.1
Natural variantiVAR_0473881467R → S1 PublicationCorresponds to variant dbSNP:rs4840498EnsemblClinVar.1
Natural variantiVAR_0177211483A → V. 1
Natural variantiVAR_0177221495P → R. 1
Natural variantiVAR_0177231505S → L. 1
Natural variantiVAR_0177241578K → KK. 1
Natural variantiVAR_0177251709A → V. 1
Natural variantiVAR_0177261816G → D. 1
Natural variantiVAR_0177271862 – 1868Missing . 7
Natural variantiVAR_0177281889D → V. 1
Natural variantiVAR_0177291946A → E1 PublicationCorresponds to variant dbSNP:rs11785822EnsemblClinVar.1
Natural variantiVAR_0177301954T → A1 Publication1
Natural variantiVAR_0177312069G → V. 1
Natural variantiVAR_0177322088Q → H. 1
Natural variantiVAR_0569812091E → K. Corresponds to variant dbSNP:rs4354268EnsemblClinVar.1
Natural variantiVAR_0177332140E → K. 1
Natural variantiVAR_0177342171E → K1 PublicationCorresponds to variant dbSNP:rs4354268EnsemblClinVar.1
Natural variantiVAR_0177352199P → L. 1
Natural variantiVAR_0177362242E → G1 Publication1
Natural variantiVAR_0177372285G → R. 1
Natural variantiVAR_0177382335H → R. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009382205 – 222DSLQA…VCAGH → LPDMKFHQRSAEWRMEVD in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_009383223 – 2400Missing in isoform 2. 1 PublicationAdd BLAST2178

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.
CCDSiCCDS43708.1 [Q8IWN7-1]
RefSeqiNP_849188.4, NM_178857.5 [Q8IWN7-1]
UniGeneiHs.33538

Genome annotation databases

EnsembliENST00000382483; ENSP00000371923; ENSG00000183638 [Q8IWN7-1]
GeneIDi94137
KEGGihsa:94137

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRP1L1_HUMAN
AccessioniPrimary (citable) accession number: Q8IWN7
Secondary accession number(s): A6NKC6
, Q86SQ1, Q8IWN8, Q8IWN9, Q8IWP0, Q8IWP1, Q8IWP2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: March 28, 2018
Last modified: May 23, 2018
This is version 119 of the entry and version 5 of the sequence. See 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

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