SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q8IUD6

- RN135_HUMAN

UniProt

Q8IUD6 - RN135_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
E3 ubiquitin-protein ligase RNF135
Gene
RNF135, L13
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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-type
Add
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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 RNF135
PRO_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. 3 interactions.
STRINGi9606.ENSP00000328340.

Structurei

3D structure databases

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

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini241 – 432192B30.2/SPRY
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili121 – 15636 Reviewed prediction
Add
BLAST
Coiled coili191 – 21626 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Contains 1 B30.2/SPRY domain.

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

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.
VSP_023785Add
BLAST
Alternative sequencei211 – 432222Missing in isoform 2.
VSP_023786Add
BLAST
Alternative sequencei228 – 28659ELLEA…TVSHR → SLLPRLECSGTITAASISQA QENSWKPRLPPHAHCLTRAT LHSGELLGLLSGPSIQPLT in isoform 3.
VSP_045359Add
BLAST
Alternative sequencei287 – 432146Missing in isoform 3.
VSP_045360Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti274 – 2741V → G in CAD43140. 1 Publication
Sequence conflicti274 – 2741V → G in AAT06743. 1 Publication
Sequence conflicti293 – 2931S → N in CAD43140. 1 Publication
Sequence conflicti293 – 2931S → N in AAT06743. 1 Publication

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. 3 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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 99 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

Similar proteinsi