Q7Z3Z2 (RD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein RD3

Alternative name(s):
Retinal degeneration protein 3

Gene names

Name:	RD3
Synonyms:	C1orf36

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	195 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Sensory transduction Vision
Coding sequence diversity	Polymorphism
Disease	Leber congenital amaurosis
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW retina development in camera-type eye Inferred from electronic annotation. Source: Compara visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 195	195	Protein RD3		PRO_0000089248
Regions
	Coiled coil	23 – 52	30	Potential
Natural variations
	Natural variant	6	1	W → R in an individual with an atypical late-onset form of retinitis pigmentosa. Ref.5 Corresponds to variant rs35649846 [ dbSNP | Ensembl ].		VAR_031510
	Natural variant	23	1	E → D in an individual with an atypical late-onset form of retinitis pigmentosa. Ref.5 Corresponds to variant rs34422496 [ dbSNP | Ensembl ].		VAR_031511
	Natural variant	35	1	G → R. Ref.5		VAR_031512
	Natural variant	47	1	R → C. Ref.1 Ref.5 Corresponds to variant rs34049451 [ dbSNP | Ensembl ].		VAR_023050
	Natural variant	57	1	G → V in an individual with cone-rod degeneration. Ref.5		VAR_031513
	Natural variant	68	1	R → W. Ref.5		VAR_031514
	Natural variant	130	1	K → M in an individual with cone-rod dystrophy features. Ref.5		VAR_031515
	Natural variant	167	1	R → K. Ref.5		VAR_031516
	Natural variant	195	1	D → V. Ref.5		VAR_031517

Sequences

	Sequence		Length	Mass (Da)
	Q7Z3Z2 [UniParc]. Last modified October 1, 2003. Version 1. Checksum: F9AB60B761E55779	FASTA	195	22,704
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00258037.
RefSeq	NP_001158160.1. NM_001164688.1. NP_898882.1. NM_183059.2.
UniGene	Hs.632495.
3D structure databases
ProteinModelPortal	Q7Z3Z2.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000355969.
PTM databases
PhosphoSite	Q7Z3Z2.
Polymorphism databases
DMDM	71152353.
Proteomic databases
PaxDb	Q7Z3Z2.
PRIDE	Q7Z3Z2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367002; ENSP00000355969; ENSG00000198570.
GeneID	343035.
KEGG	hsa:343035.
UCSC	uc001him.2. human.
Organism-specific databases
CTD	343035.
GeneCards	GC01M211649.
HGNC	HGNC:19689. RD3.
MIM	180040. gene. 610612. phenotype.
neXtProt	NX_Q7Z3Z2.
Orphanet	65. Leber congenital amaurosis.
PharmGKB	PA162400998.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG27820.
HOGENOM	HOG000247021.
HOVERGEN	HBG088417.
InParanoid	Q7Z3Z2.
OMA	SPFASDI.
OrthoDB	EOG4GTKF1.
PhylomeDB	Q7Z3Z2.
Gene expression databases
Bgee	Q7Z3Z2.
CleanEx	HS_RD3.
Genevestigator	Q7Z3Z2.
GermOnline	ENSG00000198570. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	RD3. human.
GenomeRNAi	343035.
NextBio	98435.
SOURCE	Search...

Entry information

Entry name

RD3_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 73 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.