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Q8IUD6

- RN135_HUMAN

UniProt

Q8IUD6 - RN135_HUMAN

Protein

E3 ubiquitin-protein ligase RNF135

Gene

RNF135

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 2 (24 Nov 2009)
      Previous versions | rss
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    Functioni

    Acts as an E2-dependent E3 ubiquitin-protein ligase, involved in innate immune defense against viruses. Ubiquitinates DDX58 and is required for full activation of the DDX58 signaling resulting in interferon beta production.2 Publications

    Pathwayi

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri21 – 6343RING-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. ligase activity Source: UniProtKB-KW
    2. protein binding Source: UniProtKB
    3. ribonucleoprotein complex binding Source: UniProtKB
    4. ubiquitin-protein transferase activity Source: UniProtKB
    5. zinc ion binding Source: InterPro

    GO - Biological processi

    1. innate immune response Source: Reactome
    2. negative regulation of type I interferon production Source: Reactome
    3. positive regulation of interferon-beta production Source: UniProtKB
    4. protein ubiquitination Source: UniProtKB
    5. regulation of innate immune response Source: UniProtKB

    Keywords - Molecular functioni

    Ligase

    Keywords - Biological processi

    Immunity, Innate immunity, Ubl conjugation pathway

    Keywords - Ligandi

    Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_24938. TRAF6 mediated IRF7 activation.
    REACT_24969. TRAF6 mediated NF-kB activation.
    REACT_25026. TRAF3-dependent IRF activation pathway.
    REACT_25039. NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10.
    REACT_25271. Negative regulators of RIG-I/MDA5 signaling.
    REACT_25359. RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways.
    UniPathwayiUPA00143.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    E3 ubiquitin-protein ligase RNF135 (EC:6.3.2.-)
    Alternative name(s):
    RIG-I E3 ubiquitin ligase
    Short name:
    REUL
    RING finger protein 135
    Riplet
    Gene namesi
    Name:RNF135
    ORF Names:L13
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:21158. RNF135.

    Subcellular locationi

    Cytoplasm 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: Reactome

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD) [MIM:614192]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti286 – 2861R → H in MMFD; an individual with overgrowth, learning disability and dysmorphic features. 1 Publication
    VAR_037652

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614192. phenotype.
    Orphaneti97685. 17q11 microdeletion syndrome.
    137634. Overgrowth - macrocephaly - facial dysmorphism.
    PharmGKBiPA134978537.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 432432E3 ubiquitin-protein ligase RNF135PRO_0000280557Add
    BLAST

    Proteomic databases

    MaxQBiQ8IUD6.
    PaxDbiQ8IUD6.
    PRIDEiQ8IUD6.

    Expressioni

    Tissue specificityi

    Expressed in skeletal muscle, spleen, kidney, placenta, prostate, stomach, thyroid and tongue. Also weakly expressed in heart, thymus, liver and lung.1 Publication

    Gene expression databases

    ArrayExpressiQ8IUD6.
    BgeeiQ8IUD6.
    CleanExiHS_RNF135.
    GenevestigatoriQ8IUD6.

    Organism-specific databases

    HPAiHPA021576.

    Interactioni

    Subunit structurei

    Interacts with DDX58. Interacts with PCBP2.3 Publications

    Protein-protein interaction databases

    BioGridi124009. 4 interactions.
    STRINGi9606.ENSP00000328340.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IUD6.
    SMRiQ8IUD6. Positions 16-85, 252-417.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini241 – 432192B30.2/SPRYPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili121 – 15636Sequence AnalysisAdd
    BLAST
    Coiled coili191 – 21626Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 1 B30.2/SPRY domain.PROSITE-ProRule annotation
    Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri21 – 6343RING-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Coiled coil, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG308427.
    HOGENOMiHOG000059562.
    HOVERGENiHBG056606.
    InParanoidiQ8IUD6.
    KOiK16272.
    OMAiWLYGLHP.
    OrthoDBiEOG79KPFR.
    PhylomeDBiQ8IUD6.
    TreeFamiTF351089.

    Family and domain databases

    Gene3Di3.30.40.10. 1 hit.
    InterProiIPR001870. B30.2/SPRY.
    IPR003879. Butyrophylin.
    IPR008985. ConA-like_lec_gl_sf.
    IPR006574. PRY.
    IPR003877. SPRY_rcpt.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    IPR017907. Znf_RING_CS.
    [Graphical view]
    PfamiPF00622. SPRY. 1 hit.
    [Graphical view]
    PRINTSiPR01407. BUTYPHLNCDUF.
    SMARTiSM00589. PRY. 1 hit.
    SM00184. RING. 1 hit.
    [Graphical view]
    SUPFAMiSSF49899. SSF49899. 1 hit.
    PROSITEiPS50188. B302_SPRY. 1 hit.
    PS00518. ZF_RING_1. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IUD6-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAGLGLGSAV PVWLAEDDLG CIICQGLLDW PATLPCGHSF CRHCLEALWG    50
    ARDARRWACP TCRQGAAQQP HLRKNTLLQD LADKYRRAAR EIQAGSDPAH 100
    CPCPGSSSLS SAAARPRRRP ELQRVAVEKS ITEVAQELTE LVEHLVDIVR 150
    SLQNQRPLSE SGPDNELSIL GKAFSSGVDL SMASPKLVTS DTAAGKIRDI 200
    LHDLEEIQEK LQESVTWKEA PEAQMQGELL EAPSSSSCPL PDQSHPALRR 250
    ASRFAQWAIH PTFNLKSLSC SLEVSKDSRT VTVSHRPQPY RWSCERFSTS 300
    QVLCSQALSS GKHYWEVDTR NCSHWAVGVA SWEMSRDQVL GRTMDSCCVE 350
    WKGTSQLSAW HMVKETVLGS DRPGVVGIWL NLEEGKLAFY SVDNQEKLLY 400
    ECTISASSPL YPAFWLYGLH PGNYLIIKQV KV 432
    Length:432
    Mass (Da):47,888
    Last modified:November 24, 2009 - v2
    Checksum:i488F05406996311D
    GO
    Isoform 2 (identifier: Q8IUD6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         173-210: AFSSGVDLSM...LHDLEEIQEK → ENSWKPRLPP...LSGPSIQPLT
         211-432: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:210
    Mass (Da):22,891
    Checksum:i8E57034E5F6DF444
    GO
    Isoform 3 (identifier: Q8IUD6-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         228-286: ELLEAPSSSS...DSRTVTVSHR → SLLPRLECSG...LSGPSIQPLT
         287-432: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:286
    Mass (Da):30,989
    Checksum:iC08F98D2BBF6544E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti274 – 2741V → G in CAD43140. (PubMed:12696059)Curated
    Sequence conflicti274 – 2741V → G in AAT06743. (PubMed:15334068)Curated
    Sequence conflicti293 – 2931S → N in CAD43140. (PubMed:12696059)Curated
    Sequence conflicti293 – 2931S → N in AAT06743. (PubMed:15334068)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti71 – 711H → Q.1 Publication
    Corresponds to variant rs7225888 [ dbSNP | Ensembl ].
    VAR_031165
    Natural varianti108 – 1081S → P.1 Publication
    Corresponds to variant rs7211440 [ dbSNP | Ensembl ].
    VAR_031166
    Natural varianti115 – 1151R → K.1 Publication
    Corresponds to variant rs111902263 [ dbSNP | Ensembl ].
    VAR_063495
    Natural varianti286 – 2861R → H in MMFD; an individual with overgrowth, learning disability and dysmorphic features. 1 Publication
    VAR_037652
    Natural varianti415 – 4151W → C.1 Publication
    Corresponds to variant rs61749868 [ dbSNP | Ensembl ].
    VAR_063496

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei173 – 21038AFSSG…EIQEK → ENSWKPRLPPHAHCLTRATL HSGELLGLLSGPSIQPLT in isoform 2. 2 PublicationsVSP_023785Add
    BLAST
    Alternative sequencei211 – 432222Missing in isoform 2. 2 PublicationsVSP_023786Add
    BLAST
    Alternative sequencei228 – 28659ELLEA…TVSHR → SLLPRLECSGTITAASISQA QENSWKPRLPPHAHCLTRAT LHSGELLGLLSGPSIQPLT in isoform 3. 1 PublicationVSP_045359Add
    BLAST
    Alternative sequencei287 – 432146Missing in isoform 3. 1 PublicationVSP_045360Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ496729 mRNA. Translation: CAD43140.1.
    AY598332 mRNA. Translation: AAT06743.1.
    AB470605 mRNA. Translation: BAG84604.1.
    AK122646 mRNA. Translation: BAG53638.1.
    AK312979 mRNA. Translation: BAG35816.1.
    AC138207 Genomic DNA. No translation available.
    CH471147 Genomic DNA. Translation: EAW80286.1.
    BC005084 mRNA. Translation: AAH05084.1.
    BC082262 mRNA. No translation available.
    BC126420 mRNA. Translation: AAI26421.1.
    BC126422 mRNA. Translation: AAI26423.1.
    CCDSiCCDS11262.1. [Q8IUD6-1]
    CCDS11263.1. [Q8IUD6-2]
    CCDS54104.1. [Q8IUD6-3]
    RefSeqiNP_001171921.1. NM_001184992.1. [Q8IUD6-3]
    NP_115698.3. NM_032322.3. [Q8IUD6-1]
    NP_922921.1. NM_197939.1. [Q8IUD6-2]
    UniGeneiHs.29874.

    Genome annotation databases

    EnsembliENST00000324689; ENSP00000323693; ENSG00000181481. [Q8IUD6-2]
    ENST00000328381; ENSP00000328340; ENSG00000181481. [Q8IUD6-1]
    ENST00000535306; ENSP00000440470; ENSG00000181481. [Q8IUD6-3]
    GeneIDi84282.
    KEGGihsa:84282.
    UCSCiuc002hfz.3. human. [Q8IUD6-1]
    uc002hga.3. human. [Q8IUD6-2]

    Polymorphism databases

    DMDMi269849639.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Leiden Open Variation Database

    Ring finger protein 135 (RNF135)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ496729 mRNA. Translation: CAD43140.1 .
    AY598332 mRNA. Translation: AAT06743.1 .
    AB470605 mRNA. Translation: BAG84604.1 .
    AK122646 mRNA. Translation: BAG53638.1 .
    AK312979 mRNA. Translation: BAG35816.1 .
    AC138207 Genomic DNA. No translation available.
    CH471147 Genomic DNA. Translation: EAW80286.1 .
    BC005084 mRNA. Translation: AAH05084.1 .
    BC082262 mRNA. No translation available.
    BC126420 mRNA. Translation: AAI26421.1 .
    BC126422 mRNA. Translation: AAI26423.1 .
    CCDSi CCDS11262.1. [Q8IUD6-1 ]
    CCDS11263.1. [Q8IUD6-2 ]
    CCDS54104.1. [Q8IUD6-3 ]
    RefSeqi NP_001171921.1. NM_001184992.1. [Q8IUD6-3 ]
    NP_115698.3. NM_032322.3. [Q8IUD6-1 ]
    NP_922921.1. NM_197939.1. [Q8IUD6-2 ]
    UniGenei Hs.29874.

    3D structure databases

    ProteinModelPortali Q8IUD6.
    SMRi Q8IUD6. Positions 16-85, 252-417.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124009. 4 interactions.
    STRINGi 9606.ENSP00000328340.

    Polymorphism databases

    DMDMi 269849639.

    Proteomic databases

    MaxQBi Q8IUD6.
    PaxDbi Q8IUD6.
    PRIDEi Q8IUD6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000324689 ; ENSP00000323693 ; ENSG00000181481 . [Q8IUD6-2 ]
    ENST00000328381 ; ENSP00000328340 ; ENSG00000181481 . [Q8IUD6-1 ]
    ENST00000535306 ; ENSP00000440470 ; ENSG00000181481 . [Q8IUD6-3 ]
    GeneIDi 84282.
    KEGGi hsa:84282.
    UCSCi uc002hfz.3. human. [Q8IUD6-1 ]
    uc002hga.3. human. [Q8IUD6-2 ]

    Organism-specific databases

    CTDi 84282.
    GeneCardsi GC17P029297.
    HGNCi HGNC:21158. RNF135.
    HPAi HPA021576.
    MIMi 611358. gene.
    614192. phenotype.
    neXtProti NX_Q8IUD6.
    Orphaneti 97685. 17q11 microdeletion syndrome.
    137634. Overgrowth - macrocephaly - facial dysmorphism.
    PharmGKBi PA134978537.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG308427.
    HOGENOMi HOG000059562.
    HOVERGENi HBG056606.
    InParanoidi Q8IUD6.
    KOi K16272.
    OMAi WLYGLHP.
    OrthoDBi EOG79KPFR.
    PhylomeDBi Q8IUD6.
    TreeFami TF351089.

    Enzyme and pathway databases

    UniPathwayi UPA00143 .
    Reactomei REACT_24938. TRAF6 mediated IRF7 activation.
    REACT_24969. TRAF6 mediated NF-kB activation.
    REACT_25026. TRAF3-dependent IRF activation pathway.
    REACT_25039. NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10.
    REACT_25271. Negative regulators of RIG-I/MDA5 signaling.
    REACT_25359. RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways.

    Miscellaneous databases

    ChiTaRSi RNF135. human.
    GeneWikii RNF135.
    GenomeRNAii 84282.
    NextBioi 73884.
    PROi Q8IUD6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IUD6.
    Bgeei Q8IUD6.
    CleanExi HS_RNF135.
    Genevestigatori Q8IUD6.

    Family and domain databases

    Gene3Di 3.30.40.10. 1 hit.
    InterProi IPR001870. B30.2/SPRY.
    IPR003879. Butyrophylin.
    IPR008985. ConA-like_lec_gl_sf.
    IPR006574. PRY.
    IPR003877. SPRY_rcpt.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    IPR017907. Znf_RING_CS.
    [Graphical view ]
    Pfami PF00622. SPRY. 1 hit.
    [Graphical view ]
    PRINTSi PR01407. BUTYPHLNCDUF.
    SMARTi SM00589. PRY. 1 hit.
    SM00184. RING. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49899. SSF49899. 1 hit.
    PROSITEi PS50188. B302_SPRY. 1 hit.
    PS00518. ZF_RING_1. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse."
      Jenne D.E., Tinschert S., Dorschner M.O., Hameister H., Stephens K., Kehrer-Sawatzki H.
      Genes Chromosomes Cancer 37:111-120(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer."
      Petroziello J., Yamane A., Westendorf L., Thompson M., McDonagh C., Cerveny C., Law C.-L., Wahl A., Carter P.
      Oncogene 23:7734-7745(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Riplet/RNF135, a RING finger protein, ubiquitinates RIG-I to promote interferon-beta induction during the early phase of viral infection."
      Oshiumi H., Matsumoto M., Hatakeyama S., Seya T.
      J. Biol. Chem. 284:807-817(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH DDX58, TISSUE SPECIFICITY.
    4. "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] (ISOFORM 2).
      Tissue: Mammary gland and Urinary bladder.
    5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORMS 1; 2 AND 3).
      Tissue: Brain, Lung carcinoma and Placenta.
    8. "PCBP2 mediates degradation of the adaptor MAVS via the HECT ubiquitin ligase AIP4."
      You F., Sun H., Zhou X., Sun W., Liang S., Zhai Z., Jiang Z.
      Nat. Immunol. 10:1300-1308(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PCBP2.
    9. "REUL is a novel E3 ubiquitin ligase and stimulator of retinoic-acid-inducible gene-I."
      Gao D., Yang Y.K., Wang R.P., Zhou X., Diao F.C., Li M.D., Zhai Z.H., Jiang Z.F., Chen D.Y.
      PLoS ONE 4:E5760-E5760(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH DDX58, SUBCELLULAR LOCATION.
    10. "Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth."
      Douglas J., Cilliers D., Coleman K., Tatton-Brown K., Barker K., Bernhard B., Burn J., Huson S., Josifova D., Lacombe D., Malik M., Mansour S., Reid E., Cormier-Daire V., Cole T., Rahman N.
      Nat. Genet. 39:963-965(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MMFD HIS-286.
    11. "RNF135 mutations are not present in patients with Sotos syndrome-like features."
      Visser R., Koelma N., Vijfhuizen L., van der Wielen M.J., Kant S.G., Breuning M.H., Wit J.M., Losekoot M.
      Am. J. Med. Genet. A 149:806-808(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLN-71; PRO-108; LYS-115 AND CYS-415.

    Entry informationi

    Entry nameiRN135_HUMAN
    AccessioniPrimary (citable) accession number: Q8IUD6
    Secondary accession number(s): A0AVM5
    , B2R7G9, B6ZLM5, F5GX60, Q9BSE9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: November 24, 2009
    Last modified: October 1, 2014
    This is version 100 of the entry and version 2 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 17
      Human chromosome 17: 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
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3