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Entry version 91 (08 May 2019)
Sequence version 1 (24 Jul 2007)
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Protein

Photoreceptor cilium actin regulator

Gene

PCARE

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

Plays an essential role for normal photoreceptor cell maintenance and vision.1 Publication

<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 processSensory 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_and_taxonomy_section">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:
Photoreceptor cilium actin regulatorImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:PCAREImported
Synonyms:C2orf71
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 2

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:34383 PCARE

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613425 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_A6NGG8

<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

Keywords - Cellular componenti

Cell projection, Cilium

<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

Retinitis pigmentosa 54 (RP54)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:613428
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_063395201I → F in RP54; induces proteasomal degradation. 1 PublicationCorresponds to variant dbSNP:rs267606690EnsemblClinVar.1
Natural variantiVAR_065273372D → N in RP54. 1 PublicationCorresponds to variant dbSNP:rs201284350Ensembl.1
Natural variantiVAR_065275612L → P in RP54. 1 PublicationCorresponds to variant dbSNP:rs200758183Ensembl.1
Natural variantiVAR_065276615V → D in RP54. 1 PublicationCorresponds to variant dbSNP:rs140776870EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
388939

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
PCARE

MalaCards human disease database

More...
MalaCardsi
PCARE
MIMi613428 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000179270

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

More...
Orphaneti
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162379508

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C2orf71

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedSequence analysis
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003290782 – 1288Photoreceptor cilium actin regulatorAdd BLAST1287

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycineSequence analysis1
Lipidationi3S-palmitoyl cysteineSequence analysis1

Keywords - PTMi

Lipoprotein, Myristate, Palmitate

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
A6NGG8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
A6NGG8

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

More...
PaxDbi
A6NGG8

PRoteomics IDEntifications database

More...
PRIDEi
A6NGG8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
1125

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
A6NGG8

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

More...
PhosphoSitePlusi
A6NGG8

<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

Specifically expressed in retina.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000179270 Expressed in 43 organ(s), highest expression level in eye

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
A6NGG8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051819

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
132908, 6 interactors

Protein interaction database and analysis system

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IntActi
A6NGG8, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000332809

<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

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 biasi1013 – 1095Pro-richAdd BLAST83

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IIKW Eukaryota
ENOG410YIZU LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000002768

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000111330

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
A6NGG8

Identification of Orthologs from Complete Genome Data

More...
OMAi
ADNESVQ

Database of Orthologous Groups

More...
OrthoDBi
268004at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
A6NGG8

TreeFam database of animal gene trees

More...
TreeFami
TF336604

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029352 PCARE

The PANTHER Classification System

More...
PANTHERi
PTHR22017 PTHR22017, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15449 Retinal, 1 hit

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

A6NGG8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGCTPSHSDL VNSVAKSGIQ FLKKPKAIRP GCQGGSERGS IPLLVKNSTC
60 70 80 90 100
YDAGEGLAEE QPSPRRNQTT AKGLCQLMGD PASGKRKDME GLIPGTKTSS
110 120 130 140 150
SQLNKSQSHM AKDIPFKTQG SHGSQGADFS GDESEESSTQ DTSKWKRTAK
160 170 180 190 200
CHTSSTQSHC YQTIHPAHEP EGKVDFPEPL VKAHQQAYTY LHSSLSKYEA
210 220 230 240 250
ILCIIHQATQ TRELLQPMVS FLLLCFEEIS QLLGEISKDG EVLLQEVRED
260 270 280 290 300
LAWPLKKREP QEQPNLLQQL LQYTVSKLQV LNGTVASLTG SFLEGSSSYL
310 320 330 340 350
HSTATHLENK LSTKRNVDER LLRALRQLES LASGCGDPGV QGLPLCSEDS
360 370 380 390 400
GIGADNESVQ SVDKLGKQTS WDLAPEPEEW KSVTSPHTEA RQSGHTWQQS
410 420 430 440 450
PFCLGSGRPQ DCLLSGAPMA KVQPRAQDEA RSPCLSSTSP ENITSPPLKL
460 470 480 490 500
GTSTPCDSFG IGVSVEPHLS KTSRPMDASS LSDSEDSSPE EEEEDKMSSM
510 520 530 540 550
SLCAWQEKTP HSRPQSSPAD RESPFQARTR RLRSLQAQEM ILKMKESISE
560 570 580 590 600
RIKFVPVPCG HQDWSEEEEG RTVVPPRPST VSGSRRAPER QTRSQSESCL
610 620 630 640 650
QSHVEDPTFQ ELRRVQRDLS QKLEAFYALG AKGQGQSQEQ ILQPRAAAVW
660 670 680 690 700
PNGTCRVSPS NTTSRLKASL TKNFSILPSQ DKSILQKCNP HPEDEQGKAG
710 720 730 740 750
KLPNAIPSGE VSEAAKATDW NVRGCPTRTS VKKLIETFSP TESLRMLGDS
760 770 780 790 800
KDAGASPCLR NCIMPPRFPK YTGLAPLYPK PQISPASGRE SLKMGIGWKP
810 820 830 840 850
LAPIFPPLPK AEAAKSEELS CEMEGNLEHL PPPPMEVLMD KSFASLESPE
860 870 880 890 900
SSKSTENSPK ETQEPGPGEA GPTRRTWASP KLRASVSPLD LLPSKSTASL
910 920 930 940 950
TKPHSTGPGS GRSSCQPRKP ALDLSSPPAT SQSPEVKGGT WSQAEKATSL
960 970 980 990 1000
YRQPRKAIAW HHSGPPSGQN RTSESSLARP RQSRERSPPV GRKASPTRTH
1010 1020 1030 1040 1050
WVPQADKRRR SLPSSYRPAQ PSPSAVQTPP SPPVSPRVLS PPTTKRRTSP
1060 1070 1080 1090 1100
PHQPKLPNPP PESAPAQCKV PSPPTQHPEA SPPFSIPSPS PPMSPSQEHK
1110 1120 1130 1140 1150
ETRDSEDSQA VIAKVSGNTH SIFCPATSSL FEAKPPLSTA HPLTPPSLPP
1160 1170 1180 1190 1200
EAGGPLGNPA ECWKNSSGPW LRADSQRRAA LCALNPLPFL RRTASDRQPG
1210 1220 1230 1240 1250
GRPQPPTLDP TSTSYESQLG QNSSSEESPK KDTEPGSSPC SPELQGGTRR
1260 1270 1280
ASPPEFCVLG HGLQPEPRTG HIQDKSQPEA QPQQEEVS
Length:1,288
Mass (Da):139,655
Last modified:July 24, 2007 - v1
<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:i97AC10B7AB0ED158
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04264613S → C1 PublicationCorresponds to variant dbSNP:rs10084168EnsemblClinVar.1
Natural variantiVAR_063395201I → F in RP54; induces proteasomal degradation. 1 PublicationCorresponds to variant dbSNP:rs267606690EnsemblClinVar.1
Natural variantiVAR_065267227E → K1 PublicationCorresponds to variant dbSNP:rs114057537EnsemblClinVar.1
Natural variantiVAR_065268247V → A1 PublicationCorresponds to variant dbSNP:rs77828062Ensembl.1
Natural variantiVAR_065269252A → D1 PublicationCorresponds to variant dbSNP:rs77003681Ensembl.1
Natural variantiVAR_065270258R → I1 PublicationCorresponds to variant dbSNP:rs116156338Ensembl.1
Natural variantiVAR_065271312S → N1 Publication1
Natural variantiVAR_065272320R → C1 PublicationCorresponds to variant dbSNP:rs374283240EnsemblClinVar.1
Natural variantiVAR_065273372D → N in RP54. 1 PublicationCorresponds to variant dbSNP:rs201284350Ensembl.1
Natural variantiVAR_065274378E → K1 PublicationCorresponds to variant dbSNP:rs201900716Ensembl.1
Natural variantiVAR_042647421K → R1 PublicationCorresponds to variant dbSNP:rs17007544EnsemblClinVar.1
Natural variantiVAR_042648580T → M1 PublicationCorresponds to variant dbSNP:rs10166913EnsemblClinVar.1
Natural variantiVAR_065275612L → P in RP54. 1 PublicationCorresponds to variant dbSNP:rs200758183Ensembl.1
Natural variantiVAR_065276615V → D in RP54. 1 PublicationCorresponds to variant dbSNP:rs140776870EnsemblClinVar.1
Natural variantiVAR_065277628A → T1 PublicationCorresponds to variant dbSNP:rs571059484EnsemblClinVar.1
Natural variantiVAR_065278648A → P1 Publication1
Natural variantiVAR_065279688C → Y1 PublicationCorresponds to variant dbSNP:rs149601594EnsemblClinVar.1
Natural variantiVAR_042649792L → V1 PublicationCorresponds to variant dbSNP:rs17744093EnsemblClinVar.1
Natural variantiVAR_063396867P → L2 PublicationsCorresponds to variant dbSNP:rs182248363EnsemblClinVar.1
Natural variantiVAR_065280954P → S1 PublicationCorresponds to variant dbSNP:rs758883789Ensembl.1
Natural variantiVAR_065281955R → Q1 PublicationCorresponds to variant dbSNP:rs184249075EnsemblClinVar.1
Natural variantiVAR_065282959A → T1 PublicationCorresponds to variant dbSNP:rs192350796EnsemblClinVar.1
Natural variantiVAR_0652831020Q → R1 PublicationCorresponds to variant dbSNP:rs200367963EnsemblClinVar.1
Natural variantiVAR_0652841089Missing 1 Publication1
Natural variantiVAR_0652851160A → T1 PublicationCorresponds to variant dbSNP:rs766723736Ensembl.1
Natural variantiVAR_0796091176Q → R Found in patients with pathologic myopia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs182812191Ensembl.1
Natural variantiVAR_0652861177R → Q1 PublicationCorresponds to variant dbSNP:rs375826049Ensembl.1
Natural variantiVAR_0652871225S → SS1 Publication1
Natural variantiVAR_0652881247G → S1 PublicationCorresponds to variant dbSNP:rs187333111EnsemblClinVar.1
Natural variantiVAR_0426501254P → L1 PublicationCorresponds to variant dbSNP:rs1975713Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AC105398 Genomic DNA No translation available.
AK092250 mRNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42669.1

NCBI Reference Sequences

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RefSeqi
NP_001025054.1, NM_001029883.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000331664; ENSP00000332809; ENSG00000179270

Database of genes from NCBI RefSeq genomes

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GeneIDi
388939

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:388939

UCSC genome browser

More...
UCSCi
uc002rmt.3 human

Keywords - Coding sequence diversityi

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
AC105398 Genomic DNA No translation available.
AK092250 mRNA No translation available.
CCDSiCCDS42669.1
RefSeqiNP_001025054.1, NM_001029883.2

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi132908, 6 interactors
IntActiA6NGG8, 5 interactors
STRINGi9606.ENSP00000332809

PTM databases

iPTMnetiA6NGG8
PhosphoSitePlusiA6NGG8

Polymorphism and mutation databases

BioMutaiC2orf71

Proteomic databases

EPDiA6NGG8
jPOSTiA6NGG8
PaxDbiA6NGG8
PRIDEiA6NGG8
ProteomicsDBi1125

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331664; ENSP00000332809; ENSG00000179270
GeneIDi388939
KEGGihsa:388939
UCSCiuc002rmt.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
388939
DisGeNETi388939

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PCARE
GeneReviewsiPCARE

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0001940
HGNCiHGNC:34383 PCARE
HPAiHPA051819
MalaCardsiPCARE
MIMi613425 gene
613428 phenotype
neXtProtiNX_A6NGG8
OpenTargetsiENSG00000179270
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA162379508

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IIKW Eukaryota
ENOG410YIZU LUCA
GeneTreeiENSGT00390000002768
HOGENOMiHOG000111330
InParanoidiA6NGG8
OMAiADNESVQ
OrthoDBi268004at2759
PhylomeDBiA6NGG8
TreeFamiTF336604

Miscellaneous databases

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

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GenomeRNAii
388939

Protein Ontology

More...
PROi
PR:A6NGG8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000179270 Expressed in 43 organ(s), highest expression level in eye
GenevisibleiA6NGG8 HS

Family and domain databases

InterProiView protein in InterPro
IPR029352 PCARE
PANTHERiPTHR22017 PTHR22017, 1 hit
PfamiView protein in Pfam
PF15449 Retinal, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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<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 nameiPCARE_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: A6NGG8
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: July 24, 2007
Last modified: May 8, 2019
This is version 91 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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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