Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 133 (17 Jun 2020)
Sequence version 5 (28 Mar 2018)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Retinitis pigmentosa 1-like 1 protein

Gene

RP1L1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation, Sensory transduction, Vision

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Retinitis pigmentosa 1-like 1 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RP1L1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000183638.5

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15946 RP1L1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608581 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IWN7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Microtubule

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06512645R → W in OCMD. 1 PublicationCorresponds to variant dbSNP:rs267607017EnsemblClinVar.1
Natural variantiVAR_065127960W → R in OCMD. 1 PublicationCorresponds to variant dbSNP:rs267607018EnsemblClinVar.1
Natural variantiVAR_0683501199S → C in OCMD. 1 PublicationCorresponds to variant dbSNP:rs863225442EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
94137

MalaCards human disease database

More...
MalaCardsi
RP1L1
MIMi613587 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000183638

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
247834 Occult macular dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34640

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IWN7 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RP1L1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373543

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000974061 – 2400Retinitis pigmentosa 1-like 1 proteinAdd BLAST2400

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8IWN7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8IWN7

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8IWN7

PeptideAtlas

More...
PeptideAtlasi
Q8IWN7

PRoteomics IDEntifications database

More...
PRIDEi
Q8IWN7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
1400
70874 [Q8IWN7-1]
70875 [Q8IWN7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IWN7

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
Q8IWN7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8IWN7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Retinal-specific; expressed in photoreceptor.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000183638 Expressed in pigmented layer of retina and 15 other tissues

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

By similarity

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q8IWN7, 4 interactors

Molecular INTeraction database

More...
MINTi
Q8IWN7

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000371923

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8IWN7 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8IWN7

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini34 – 118Doublecortin 1PROSITE-ProRule annotationAdd BLAST85
Domaini152 – 231Doublecortin 2PROSITE-ProRule annotationAdd BLAST80
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1934 – 2017Sequence analysisAdd BLAST84
Coiled coili2054 – 2081Sequence analysisAdd BLAST28

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1273 – 2248Glu-richPROSITE-ProRule annotationAdd BLAST976
Compositional biasi1725 – 1834Gly-richPROSITE-ProRule annotationAdd BLAST110

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3757 Eukaryota
ENOG410ZE6Q LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154242

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IWN7

KEGG Orthology (KO)

More...
KOi
K19538

Identification of Orthologs from Complete Genome Data

More...
OMAi
TPRGLHG

Database of Orthologous Groups

More...
OrthoDBi
79495at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IWN7

TreeFam database of animal gene trees

More...
TreeFami
TF318770

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.10.20.230, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003533 Doublecortin_dom
IPR036572 Doublecortin_dom_sf
IPR040163 RP1/RP1L1/DCX

The PANTHER Classification System

More...
PANTHERi
PTHR23005 PTHR23005, 2 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03607 DCX, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00537 DCX, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF89837 SSF89837, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50309 DC, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8IWN7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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: 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

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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. Corresponds to variant dbSNP:rs140397694EnsemblClinVar.1
Natural variantiVAR_06512645R → W in OCMD. 1 PublicationCorresponds to variant dbSNP:rs267607017EnsemblClinVar.1
Natural variantiVAR_01770156R → C. Corresponds to variant dbSNP:rs150931842EnsemblClinVar.1
Natural variantiVAR_017702112T → S. Corresponds to variant dbSNP:rs6601495EnsemblClinVar.1
Natural variantiVAR_017703136R → H. Corresponds to variant dbSNP:rs189960401EnsemblClinVar.1
Natural variantiVAR_056979222H → P. Corresponds to variant dbSNP:rs4388421EnsemblClinVar.1
Natural variantiVAR_017704487A → V. Corresponds to variant dbSNP:rs74400517EnsemblClinVar.1
Natural variantiVAR_080211514G → S1 PublicationCorresponds to variant dbSNP:rs74990397EnsemblClinVar.1
Natural variantiVAR_017705624A → T. Corresponds to variant dbSNP:rs141846905EnsemblClinVar.1
Natural variantiVAR_017706792L → P1 PublicationCorresponds to variant dbSNP:rs35602868EnsemblClinVar.1
Natural variantiVAR_017707795E → K. Corresponds to variant dbSNP:rs199746022EnsemblClinVar.1
Natural variantiVAR_017708860R → W. Corresponds to variant dbSNP:rs62490856EnsemblClinVar.1
Natural variantiVAR_065127960W → R in OCMD. 1 PublicationCorresponds to variant dbSNP:rs267607018EnsemblClinVar.1
Natural variantiVAR_0177091146R → W1 PublicationCorresponds to variant dbSNP:rs4840502EnsemblClinVar.1
Natural variantiVAR_0683501199S → C in OCMD. 1 PublicationCorresponds to variant dbSNP:rs863225442EnsemblClinVar.1
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. Corresponds to variant dbSNP:rs386722178Ensembl.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. Corresponds to variant dbSNP:rs62490855EnsemblClinVar.1
Natural variantiVAR_0177221495P → R. Corresponds to variant dbSNP:rs4841399EnsemblClinVar.1
Natural variantiVAR_0177231505S → L. Corresponds to variant dbSNP:rs202068070EnsemblClinVar.1
Natural variantiVAR_0177241578K → KK. 1
Natural variantiVAR_0177251709A → V. Corresponds to variant dbSNP:rs13267180EnsemblClinVar.1
Natural variantiVAR_0177261816G → D. Corresponds to variant dbSNP:rs79019225EnsemblClinVar.1
Natural variantiVAR_0177271862 – 1868Missing . 7
Natural variantiVAR_0177281889D → V. Corresponds to variant dbSNP:rs28446662EnsemblClinVar.1
Natural variantiVAR_0177291946A → E1 PublicationCorresponds to variant dbSNP:rs11785822EnsemblClinVar.1
Natural variantiVAR_0177301954T → A1 PublicationCorresponds to variant dbSNP:rs11783478EnsemblClinVar.1
Natural variantiVAR_0177312069G → V. 1
Natural variantiVAR_0177322088Q → H. Corresponds to variant dbSNP:rs11778341EnsemblClinVar.1
Natural variantiVAR_0569812091E → K. Corresponds to variant dbSNP:rs4354268EnsemblClinVar.1
Natural variantiVAR_0177332140E → K. Corresponds to variant dbSNP:rs72494282EnsemblClinVar.1
Natural variantiVAR_0177342171E → K1 PublicationCorresponds to variant dbSNP:rs4354268EnsemblClinVar.1
Natural variantiVAR_0177352199P → L. Corresponds to variant dbSNP:rs75797924EnsemblClinVar.1
Natural variantiVAR_0177362242E → G1 Publication1
Natural variantiVAR_0177372285G → R. Corresponds to variant dbSNP:rs55642448EnsemblClinVar.1
Natural variantiVAR_0177382335H → R. Corresponds to variant dbSNP:rs117007660EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43708.1 [Q8IWN7-1]

NCBI Reference Sequences

More...
RefSeqi
NP_849188.4, NM_178857.5 [Q8IWN7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000382483; ENSP00000371923; ENSG00000183638 [Q8IWN7-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
94137

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:94137

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
CCDSiCCDS43708.1 [Q8IWN7-1]
RefSeqiNP_849188.4, NM_178857.5 [Q8IWN7-1]

3D structure databases

SMRiQ8IWN7
ModBaseiSearch...

Protein-protein interaction databases

IntActiQ8IWN7, 4 interactors
MINTiQ8IWN7
STRINGi9606.ENSP00000371923

PTM databases

iPTMnetiQ8IWN7
MetOSiteiQ8IWN7
PhosphoSitePlusiQ8IWN7

Polymorphism and mutation databases

BioMutaiRP1L1
DMDMi317373543

Proteomic databases

jPOSTiQ8IWN7
MassIVEiQ8IWN7
PaxDbiQ8IWN7
PeptideAtlasiQ8IWN7
PRIDEiQ8IWN7
ProteomicsDBi1400
70874 [Q8IWN7-1]
70875 [Q8IWN7-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
77523 8 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
94137
DisGeNETi94137
EuPathDBiHostDB:ENSG00000183638.5

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RP1L1
HGNCiHGNC:15946 RP1L1
MalaCardsiRP1L1
MIMi608581 gene
613587 phenotype
neXtProtiNX_Q8IWN7
OpenTargetsiENSG00000183638
Orphaneti247834 Occult macular dystrophy
PharmGKBiPA34640

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3757 Eukaryota
ENOG410ZE6Q LUCA
GeneTreeiENSGT00940000154242
InParanoidiQ8IWN7
KOiK19538
OMAiTPRGLHG
OrthoDBi79495at2759
PhylomeDBiQ8IWN7
TreeFamiTF318770

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
94137 3 hits in 786 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
RP1L1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
94137
PharosiQ8IWN7 Tbio

Protein Ontology

More...
PROi
PR:Q8IWN7
RNActiQ8IWN7 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000183638 Expressed in pigmented layer of retina and 15 other tissues

Family and domain databases

Gene3Di3.10.20.230, 2 hits
InterProiView protein in InterPro
IPR003533 Doublecortin_dom
IPR036572 Doublecortin_dom_sf
IPR040163 RP1/RP1L1/DCX
PANTHERiPTHR23005 PTHR23005, 2 hits
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRP1L1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IWN7
Secondary accession number(s): A6NKC6
, Q86SQ1, Q8IWN8, Q8IWN9, Q8IWP0, Q8IWP1, Q8IWP2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: March 28, 2018
Last modified: June 17, 2020
This is version 133 of the entry and version 5 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again