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Q7Z3Z2 (RD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein RD3
Alternative name(s):
Retinal degeneration protein 3
Gene names
Name:RD3
Synonyms:C1orf36
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length195 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Tissue specificity

Preferentially expressed in retina. Ref.1

Involvement in disease

Leber congenital amaurosis 12 (LCA12) [MIM:610612]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Ontologies

Keywords
   Biological processSensory transduction
Vision
   Coding sequence diversityPolymorphism
   DiseaseLeber congenital amaurosis
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processresponse to stimulus

Inferred from electronic annotation. Source: UniProtKB-KW

retina development in camera-type eye

Inferred from electronic annotation. Source: Ensembl

visual perception

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 195195Protein RD3
PRO_0000089248

Regions

Coiled coil23 – 5230 Potential

Natural variations

Natural variant61W → R in an individual with an atypical late-onset form of retinitis pigmentosa. Ref.5
Corresponds to variant rs35649846 [ dbSNP | Ensembl ].
VAR_031510
Natural variant231E → D in an individual with an atypical late-onset form of retinitis pigmentosa. Ref.5
Corresponds to variant rs34422496 [ dbSNP | Ensembl ].
VAR_031511
Natural variant351G → R. Ref.5
VAR_031512
Natural variant471R → C. Ref.1 Ref.5
Corresponds to variant rs34049451 [ dbSNP | Ensembl ].
VAR_023050
Natural variant571G → V in an individual with cone-rod degeneration. Ref.5
VAR_031513
Natural variant681R → W. Ref.5
VAR_031514
Natural variant1301K → M in an individual with cone-rod dystrophy features. Ref.5
VAR_031515
Natural variant1671R → K. Ref.5
Corresponds to variant rs74782684 [ dbSNP | Ensembl ].
VAR_031516
Natural variant1951D → V. Ref.5
VAR_031517

Sequences

Sequence LengthMass (Da)Tools
Q7Z3Z2 [UniParc].

Last modified October 1, 2003. Version 1.
Checksum: F9AB60B761E55779

FASTA19522,704
        10         20         30         40         50         60 
MSLISWLRWN EAPSRLSTRS PAEMVLETLM MELTGQMREA ERQQRERSNA VRKVCTGVDY 

        70         80         90        100        110        120 
SWLASTPRST YDLSPIERLQ LEDVCVKIHP SYCGPAILRF RQLLAEQEPE VQEVSQLFRS 

       130        140        150        160        170        180 
VLQEVLERMK QEEEAHKLTR QWSLRPRGSL ATFKTRARIS PFASDIRTIS EDVERDTPPP 

       190 
LRSWSMPEFR APKAD 

« Hide

References

« Hide 'large scale' references
[1]"Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa."
Lavorgna G., Lestingi M., Ziviello C., Testa F., Simonelli F., Manitto M.P., Brancato R., Ferrari M., Rinaldi E., Ciccodicola A., Banfi S.
Biochem. Biophys. Res. Commun. 308:414-421(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT CYS-47.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Eye.
[5]"Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration."
Friedman J.S., Chang B., Kannabiran C., Chakarova C., Singh H.P., Jalali S., Hawes N.L., Branham K., Othman M., Filippova E., Thompson D.A., Webster A.R., Andreasson S., Jacobson S.G., Bhattacharya S.S., Heckenlively J.R., Swaroop A.
Am. J. Hum. Genet. 79:1059-1070(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN LCA12, VARIANTS ARG-6; ASP-23; ARG-35; CYS-47; VAL-57; TRP-68; MET-130; LYS-167 AND VAL-195.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY191519 mRNA. Translation: AAP12678.1.
AK291210 mRNA. Translation: BAF83899.1.
CH471100 Genomic DNA. Translation: EAW93414.1.
BC065541 mRNA. Translation: AAH65541.1.
RefSeqNP_001158160.1. NM_001164688.1.
NP_898882.1. NM_183059.2.
UniGeneHs.632495.

3D structure databases

ProteinModelPortalQ7Z3Z2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131222. 1 interaction.
STRING9606.ENSP00000355969.

PTM databases

PhosphoSiteQ7Z3Z2.

Polymorphism databases

DMDM71152353.

Proteomic databases

PaxDbQ7Z3Z2.
PRIDEQ7Z3Z2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367002; ENSP00000355969; ENSG00000198570.
GeneID343035.
KEGGhsa:343035.
UCSCuc001him.2. human.

Organism-specific databases

CTD343035.
GeneCardsGC01M211649.
HGNCHGNC:19689. RD3.
MIM180040. gene.
610612. phenotype.
neXtProtNX_Q7Z3Z2.
Orphanet65. Leber congenital amaurosis.
PharmGKBPA162400998.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG27820.
HOGENOMHOG000247021.
HOVERGENHBG088417.
InParanoidQ7Z3Z2.
OMASPFASDI.
OrthoDBEOG7BW0KM.
PhylomeDBQ7Z3Z2.
TreeFamTF331573.

Gene expression databases

BgeeQ7Z3Z2.
CleanExHS_RD3.
GenevestigatorQ7Z3Z2.

Family and domain databases

InterProIPR028092. RD3.
[Graphical view]
PfamPF14473. RD3. 1 hit.
[Graphical view]
ProDomPD822638. PD822638. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetSearch...

Other

ChiTaRSRD3. human.
GenomeRNAi343035.
NextBio98435.
PROQ7Z3Z2.
SOURCESearch...

Entry information

Entry nameRD3_HUMAN
AccessionPrimary (citable) accession number: Q7Z3Z2
Secondary accession number(s): A8K595
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: October 1, 2003
Last modified: February 19, 2014
This is version 79 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM