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Q7Z3Z2

- RD3_HUMAN

UniProt

Q7Z3Z2 - RD3_HUMAN

Protein

Protein RD3

Gene

RD3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 82 (01 Oct 2014)
      Sequence version 1 (01 Oct 2003)
      Previous versions | rss
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    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

    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. 1 interaction.
    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.
    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

    MSLISWLRWN EAPSRLSTRS PAEMVLETLM MELTGQMREA ERQQRERSNA    50
    VRKVCTGVDY SWLASTPRST YDLSPIERLQ LEDVCVKIHP SYCGPAILRF 100
    RQLLAEQEPE VQEVSQLFRS VLQEVLERMK QEEEAHKLTR QWSLRPRGSL 150
    ATFKTRARIS PFASDIRTIS EDVERDTPPP LRSWSMPEFR APKAD 195
    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. 1 interaction.
    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.
    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

    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 1, 2014
    This is version 82 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