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Protein

Protein RD3

Gene

RD3

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

Functioni

GO - Biological processi

  • response to stimulus Source: UniProtKB-KW
  • retina development in camera-type eye Source: GO_Central
  • visual perception Source: UniProtKB-KW

Keywordsi

Biological processSensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Protein RD3
Alternative name(s):
Retinal degeneration protein 3
Gene namesi
Name:RD3
Synonyms:C1orf36
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000198570.5
HGNCiHGNC:19689 RD3
MIMi180040 gene
neXtProtiNX_Q7Z3Z2

Pathology & Biotechi

Involvement in diseasei

Leber congenital amaurosis 12 (LCA12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
See also OMIM:610612

Keywords - Diseasei

Leber congenital amaurosis

Organism-specific databases

DisGeNETi343035
GeneReviewsiRD3
MalaCardsiRD3
MIMi610612 phenotype
OpenTargetsiENSG00000198570
Orphaneti65 Leber congenital amaurosis
PharmGKBiPA162400998

Polymorphism and mutation databases

BioMutaiRD3
DMDMi71152353

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000892481 – 195Protein RD3Add BLAST195

Proteomic databases

PaxDbiQ7Z3Z2
PeptideAtlasiQ7Z3Z2
PRIDEiQ7Z3Z2
ProteomicsDBi69099

PTM databases

iPTMnetiQ7Z3Z2
PhosphoSitePlusiQ7Z3Z2

Expressioni

Tissue specificityi

Preferentially expressed in retina.1 Publication

Gene expression databases

BgeeiENSG00000198570 Expressed in 52 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_RD3
GenevisibleiQ7Z3Z2 HS

Organism-specific databases

HPAiHPA029941
HPA029943

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi131222, 12 interactors
IntActiQ7Z3Z2, 5 interactors
STRINGi9606.ENSP00000355969

Structurei

3D structure databases

ProteinModelPortaliQ7Z3Z2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili23 – 52Sequence analysisAdd BLAST30

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IK8N Eukaryota
ENOG4111AQS LUCA
GeneTreeiENSGT00390000002089
HOGENOMiHOG000247021
HOVERGENiHBG088417
InParanoidiQ7Z3Z2
OMAiWFRWNEP
OrthoDBiEOG091G10HZ
PhylomeDBiQ7Z3Z2
TreeFamiTF331573

Family and domain databases

InterProiView protein in InterPro
IPR028092 RD3
PANTHERiPTHR28489 PTHR28489, 1 hit
PfamiView protein in Pfam
PF14473 RD3, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD822638 PD822638, 1 hit

Sequencei

Sequence statusi: Complete.

Q7Z3Z2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSLISWLRWN EAPSRLSTRS PAEMVLETLM MELTGQMREA ERQQRERSNA
60 70 80 90 100
VRKVCTGVDY SWLASTPRST YDLSPIERLQ LEDVCVKIHP SYCGPAILRF
110 120 130 140 150
RQLLAEQEPE VQEVSQLFRS VLQEVLERMK QEEEAHKLTR QWSLRPRGSL
160 170 180 190
ATFKTRARIS PFASDIRTIS EDVERDTPPP LRSWSMPEFR APKAD
Length:195
Mass (Da):22,704
Last modified:October 1, 2003 - v1
Checksum:iF9AB60B761E55779
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0315106W → R in an individual with an atypical late-onset form of retinitis pigmentosa. 1 PublicationCorresponds to variant dbSNP:rs35649846Ensembl.1
Natural variantiVAR_03151123E → D in an individual with an atypical late-onset form of retinitis pigmentosa. 1 PublicationCorresponds to variant dbSNP:rs34422496Ensembl.1
Natural variantiVAR_03151235G → R1 PublicationCorresponds to variant dbSNP:rs530024772Ensembl.1
Natural variantiVAR_02305047R → C2 PublicationsCorresponds to variant dbSNP:rs34049451EnsemblClinVar.1
Natural variantiVAR_03151357G → V in an individual with cone-rod degeneration. 1 PublicationCorresponds to variant dbSNP:rs767481165Ensembl.1
Natural variantiVAR_03151468R → W1 PublicationCorresponds to variant dbSNP:rs144697496EnsemblClinVar.1
Natural variantiVAR_031515130K → M in an individual with cone-rod dystrophy features. 1 PublicationCorresponds to variant dbSNP:rs766015590Ensembl.1
Natural variantiVAR_031516167R → K1 PublicationCorresponds to variant dbSNP:rs74782684Ensembl.1
Natural variantiVAR_031517195D → V1 PublicationCorresponds to variant dbSNP:rs143207434EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY191519 mRNA Translation: AAP12678.1
AK291210 mRNA Translation: BAF83899.1
CH471100 Genomic DNA Translation: EAW93414.1
BC065541 mRNA Translation: AAH65541.1
CCDSiCCDS1498.1
RefSeqiNP_001158160.1, NM_001164688.1
NP_898882.1, NM_183059.2
UniGeneiHs.632495

Genome annotation databases

EnsembliENST00000367002; ENSP00000355969; ENSG00000198570
GeneIDi343035
KEGGihsa:343035
UCSCiuc001him.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY191519 mRNA Translation: AAP12678.1
AK291210 mRNA Translation: BAF83899.1
CH471100 Genomic DNA Translation: EAW93414.1
BC065541 mRNA Translation: AAH65541.1
CCDSiCCDS1498.1
RefSeqiNP_001158160.1, NM_001164688.1
NP_898882.1, NM_183059.2
UniGeneiHs.632495

3D structure databases

ProteinModelPortaliQ7Z3Z2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131222, 12 interactors
IntActiQ7Z3Z2, 5 interactors
STRINGi9606.ENSP00000355969

PTM databases

iPTMnetiQ7Z3Z2
PhosphoSitePlusiQ7Z3Z2

Polymorphism and mutation databases

BioMutaiRD3
DMDMi71152353

Proteomic databases

PaxDbiQ7Z3Z2
PeptideAtlasiQ7Z3Z2
PRIDEiQ7Z3Z2
ProteomicsDBi69099

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367002; ENSP00000355969; ENSG00000198570
GeneIDi343035
KEGGihsa:343035
UCSCiuc001him.2 human

Organism-specific databases

CTDi343035
DisGeNETi343035
EuPathDBiHostDB:ENSG00000198570.5
GeneCardsiRD3
GeneReviewsiRD3
HGNCiHGNC:19689 RD3
HPAiHPA029941
HPA029943
MalaCardsiRD3
MIMi180040 gene
610612 phenotype
neXtProtiNX_Q7Z3Z2
OpenTargetsiENSG00000198570
Orphaneti65 Leber congenital amaurosis
PharmGKBiPA162400998
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK8N Eukaryota
ENOG4111AQS LUCA
GeneTreeiENSGT00390000002089
HOGENOMiHOG000247021
HOVERGENiHBG088417
InParanoidiQ7Z3Z2
OMAiWFRWNEP
OrthoDBiEOG091G10HZ
PhylomeDBiQ7Z3Z2
TreeFamiTF331573

Miscellaneous databases

ChiTaRSiRD3 human
GenomeRNAii343035
PROiPR:Q7Z3Z2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198570 Expressed in 52 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_RD3
GenevisibleiQ7Z3Z2 HS

Family and domain databases

InterProiView protein in InterPro
IPR028092 RD3
PANTHERiPTHR28489 PTHR28489, 1 hit
PfamiView protein in Pfam
PF14473 RD3, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD822638 PD822638, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRD3_HUMAN
AccessioniPrimary (citable) accession number: Q7Z3Z2
Secondary accession number(s): A8K595
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: October 1, 2003
Last modified: November 7, 2018
This is version 108 of the entry and version 1 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 1
    Human chromosome 1: 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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