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Q7Z3Z2

- RD3_HUMAN

UniProt

Q7Z3Z2 - RD3_HUMAN

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Protein

Protein RD3

Gene

RD3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

GO - Biological processi

  1. response to stimulus Source: UniProtKB-KW
  2. retina development in camera-type eye Source: Ensembl
  3. visual perception Source: UniProtKB-KW
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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:19689. RD3.

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Leber congenital amaurosis

Organism-specific databases

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

PTM / Processingi

Molecule processing

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

Proteomic databases

PaxDbiQ7Z3Z2.
PRIDEiQ7Z3Z2.

PTM databases

PhosphoSiteiQ7Z3Z2.

Expressioni

Tissue specificityi

Preferentially expressed in retina.1 Publication

Gene expression databases

BgeeiQ7Z3Z2.
CleanExiHS_RD3.
GenevestigatoriQ7Z3Z2.

Interactioni

Protein-protein interaction databases

BioGridi131222. 9 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

eggNOGiNOG27820.
GeneTreeiENSGT00390000002089.
HOGENOMiHOG000247021.
HOVERGENiHBG088417.
InParanoidiQ7Z3Z2.
OMAiTKIHPSY.
OrthoDBiEOG7BW0KM.
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
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
VAR_031513
Natural varianti68 – 681R → W.1 Publication
VAR_031514
Natural varianti130 – 1301K → M in an individual with cone-rod dystrophy features. 1 Publication
VAR_031515
Natural varianti167 – 1671R → K.1 Publication
Corresponds to variant rs74782684 [ dbSNP | Ensembl ].
VAR_031516
Natural varianti195 – 1951D → V.1 Publication
VAR_031517

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi71152353.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY191519 mRNA. Translation: AAP12678.1 .
AK291210 mRNA. Translation: BAF83899.1 .
CH471100 Genomic DNA. Translation: EAW93414.1 .
BC065541 mRNA. Translation: AAH65541.1 .
CCDSi CCDS1498.1.
RefSeqi NP_001158160.1. NM_001164688.1.
NP_898882.1. NM_183059.2.
UniGenei Hs.632495.

3D structure databases

ProteinModelPortali Q7Z3Z2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 131222. 9 interactions.
STRINGi 9606.ENSP00000355969.

PTM databases

PhosphoSitei Q7Z3Z2.

Polymorphism databases

DMDMi 71152353.

Proteomic databases

PaxDbi Q7Z3Z2.
PRIDEi Q7Z3Z2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367002 ; ENSP00000355969 ; ENSG00000198570 .
GeneIDi 343035.
KEGGi hsa:343035.
UCSCi uc001him.2. human.

Organism-specific databases

CTDi 343035.
GeneCardsi GC01M211649.
GeneReviewsi RD3.
HGNCi HGNC:19689. RD3.
MIMi 180040. gene.
610612. phenotype.
neXtProti NX_Q7Z3Z2.
Orphaneti 65. Leber congenital amaurosis.
PharmGKBi PA162400998.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG27820.
GeneTreei ENSGT00390000002089.
HOGENOMi HOG000247021.
HOVERGENi HBG088417.
InParanoidi Q7Z3Z2.
OMAi TKIHPSY.
OrthoDBi EOG7BW0KM.
PhylomeDBi Q7Z3Z2.
TreeFami TF331573.

Miscellaneous databases

ChiTaRSi RD3. human.
GenomeRNAii 343035.
NextBioi 98435.
PROi Q7Z3Z2.
SOURCEi Search...

Gene expression databases

Bgeei Q7Z3Z2.
CleanExi HS_RD3.
Genevestigatori Q7Z3Z2.

Family and domain databases

InterProi IPR028092. RD3.
[Graphical view ]
Pfami PF14473. RD3. 1 hit.
[Graphical view ]
ProDomi PD822638. PD822638. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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.

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: October 29, 2014
This is version 83 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

External Data

Dasty 3