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Protein

Protein RD3

Gene

RD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Sensory 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

HGNCiHGNC:19689. RD3.

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

MalaCardsiRD3.
MIMi610612. phenotype.
Orphaneti65. Leber congenital amaurosis.
PharmGKBiPA162400998.

Polymorphism and mutation databases

BioMutaiRD3.
DMDMi71152353.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 195195Protein RD3PRO_0000089248Add
BLAST

Proteomic databases

EPDiQ7Z3Z2.
PaxDbiQ7Z3Z2.
PRIDEiQ7Z3Z2.

PTM databases

iPTMnetiQ7Z3Z2.
PhosphoSiteiQ7Z3Z2.

Expressioni

Tissue specificityi

Preferentially expressed in retina.1 Publication

Gene expression databases

BgeeiENSG00000198570.
CleanExiHS_RD3.
GenevisibleiQ7Z3Z2. HS.

Organism-specific databases

HPAiCAB008667.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
EHMT2A2ABF93EBI-10257497,EBI-10174566
EIF2B1Q142323EBI-10257497,EBI-491065

Protein-protein interaction databases

BioGridi131222. 12 interactions.
IntActiQ7Z3Z2. 2 interactions.
STRINGi9606.ENSP00000355969.

Structurei

3D structure databases

ProteinModelPortaliQ7Z3Z2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili23 – 5230Sequence analysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IK8N. Eukaryota.
ENOG4111AQS. LUCA.
GeneTreeiENSGT00390000002089.
HOGENOMiHOG000247021.
HOVERGENiHBG088417.
InParanoidiQ7Z3Z2.
OMAiHKLTRQW.
OrthoDBiEOG091G10HZ.
PhylomeDBiQ7Z3Z2.
TreeFamiTF331573.

Family and domain databases

InterProiIPR028092. RD3.
[Graphical view]
PfamiPF14473. RD3. 1 hit.
[Graphical view]
ProDomiPD822638. PD822638. 1 hit.
[Graphical view] [Entries sharing at least one domain]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61W → R in an individual with an atypical late-onset form of retinitis pigmentosa. 1 Publication
Corresponds to variant rs35649846 [ dbSNP | Ensembl ].
VAR_031510
Natural varianti23 – 231E → D in an individual with an atypical late-onset form of retinitis pigmentosa. 1 Publication
Corresponds to variant rs34422496 [ dbSNP | Ensembl ].
VAR_031511
Natural varianti35 – 351G → R.1 Publication
Corresponds to variant rs530024772 [ dbSNP | Ensembl ].
VAR_031512
Natural varianti47 – 471R → C.2 Publications
Corresponds to variant rs34049451 [ dbSNP | Ensembl ].
VAR_023050
Natural varianti57 – 571G → V in an individual with cone-rod degeneration. 1 Publication
Corresponds to variant rs767481165 [ dbSNP | Ensembl ].
VAR_031513
Natural varianti68 – 681R → W.1 Publication
Corresponds to variant rs144697496 [ dbSNP | Ensembl ].
VAR_031514
Natural varianti130 – 1301K → M in an individual with cone-rod dystrophy features. 1 Publication
Corresponds to variant rs766015590 [ dbSNP | Ensembl ].
VAR_031515
Natural varianti167 – 1671R → K.1 Publication
Corresponds to variant rs74782684 [ dbSNP | Ensembl ].
VAR_031516
Natural varianti195 – 1951D → V.1 Publication
Corresponds to variant rs143207434 [ dbSNP | Ensembl ].
VAR_031517

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

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 interactions.
IntActiQ7Z3Z2. 2 interactions.
STRINGi9606.ENSP00000355969.

PTM databases

iPTMnetiQ7Z3Z2.
PhosphoSiteiQ7Z3Z2.

Polymorphism and mutation databases

BioMutaiRD3.
DMDMi71152353.

Proteomic databases

EPDiQ7Z3Z2.
PaxDbiQ7Z3Z2.
PRIDEiQ7Z3Z2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi343035.
GeneCardsiRD3.
GeneReviewsiRD3.
HGNCiHGNC:19689. RD3.
HPAiCAB008667.
MalaCardsiRD3.
MIMi180040. gene.
610612. phenotype.
neXtProtiNX_Q7Z3Z2.
Orphaneti65. Leber congenital amaurosis.
PharmGKBiPA162400998.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK8N. Eukaryota.
ENOG4111AQS. LUCA.
GeneTreeiENSGT00390000002089.
HOGENOMiHOG000247021.
HOVERGENiHBG088417.
InParanoidiQ7Z3Z2.
OMAiHKLTRQW.
OrthoDBiEOG091G10HZ.
PhylomeDBiQ7Z3Z2.
TreeFamiTF331573.

Miscellaneous databases

ChiTaRSiRD3. human.
GenomeRNAii343035.
PROiQ7Z3Z2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198570.
CleanExiHS_RD3.
GenevisibleiQ7Z3Z2. HS.

Family and domain databases

InterProiIPR028092. RD3.
[Graphical view]
PfamiPF14473. RD3. 1 hit.
[Graphical view]
ProDomiPD822638. PD822638. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetiSearch...

Entry informationi

Entry nameiRD3_HUMAN
AccessioniPrimary (citable) accession number: Q7Z3Z2
Secondary accession number(s): A8K595
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: October 1, 2003
Last modified: September 7, 2016
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 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

Similar proteinsi

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