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UniProtKB - Q8IUD6 (RN135_HUMAN)

Protein

E3 ubiquitin-protein ligase RNF135

Gene

RNF135

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Catalytic activityi

S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N6-ubiquitinyl-[acceptor protein]-L-lysine.

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri21 – 63RING-typePROSITE-ProRule annotationAdd BLAST43

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW
  • ribonucleoprotein complex binding Source: UniProtKB
  • ubiquitin-protein transferase activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionTransferase
Biological processImmunity, Innate immunity, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-5689896 Ovarian tumor domain proteases
R-HSA-918233 TRAF3-dependent IRF activation pathway
R-HSA-933541 TRAF6 mediated IRF7 activation
R-HSA-933542 TRAF6 mediated NF-kB activation
R-HSA-933543 NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
R-HSA-936440 Negative regulators of DDX58/IFIH1 signaling
UniPathwayi
UPA00143

Names & Taxonomyi

Protein namesi
Recommended name:
E3 ubiquitin-protein ligase RNF135 (EC:2.3.2.27)
Alternative name(s):
RIG-I E3 ubiquitin ligase
Short name:
REUL
RING finger protein 135
RING-type E3 ubiquitin transferase RNF135Curated
Riplet
Gene namesi
Name:RNF135
ORF Names:L13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000181481.13
HGNCiHGNC:21158 RNF135
MIMi611358 gene
neXtProtiNX_Q8IUD6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction.
See also OMIM:614192
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037652286R → H in MMFD; an individual with overgrowth, learning disability and dysmorphic features. 1 PublicationCorresponds to variant dbSNP:rs121918162EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi84282
MalaCardsiRNF135
MIMi614192 phenotype
OpenTargetsiENSG00000181481
Orphaneti137634 Overgrowth-macrocephaly-facial dysmorphism syndrome
PharmGKBiPA134978537

Polymorphism and mutation databases

BioMutaiRNF135
DMDMi269849639

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002805571 – 432E3 ubiquitin-protein ligase RNF135Add BLAST432

Proteomic databases

EPDiQ8IUD6
MaxQBiQ8IUD6
PaxDbiQ8IUD6
PeptideAtlasiQ8IUD6
PRIDEiQ8IUD6
ProteomicsDBi70552
70553 [Q8IUD6-2]

PTM databases

iPTMnetiQ8IUD6
PhosphoSitePlusiQ8IUD6

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

BgeeiENSG00000181481 Expressed in 205 organ(s), highest expression level in layer of synovial tissue
CleanExiHS_RNF135
ExpressionAtlasiQ8IUD6 baseline and differential
GenevisibleiQ8IUD6 HS

Organism-specific databases

HPAiHPA021576
HPA052404

Interactioni

Subunit structurei

Interacts with DDX58. Interacts with PCBP2.3 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi124009, 15 interactors
IntActiQ8IUD6, 8 interactors
STRINGi9606.ENSP00000328340

Structurei

3D structure databases

ProteinModelPortaliQ8IUD6
SMRiQ8IUD6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini241 – 432B30.2/SPRYPROSITE-ProRule annotationAdd BLAST192

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili121 – 156Sequence analysisAdd BLAST36
Coiled coili191 – 216Sequence analysisAdd BLAST26

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri21 – 63RING-typePROSITE-ProRule annotationAdd BLAST43

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiKOG2177 Eukaryota
ENOG4111G04 LUCA
GeneTreeiENSGT00830000128449
HOGENOMiHOG000059562
HOVERGENiHBG056606
InParanoidiQ8IUD6
KOiK16272
OMAiNCSHWAV
OrthoDBiEOG091G062V
PhylomeDBiQ8IUD6
TreeFamiTF351089

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR001870 B30.2/SPRY
IPR003879 Butyrophylin_SPRY
IPR013320 ConA-like_dom_sf
IPR006574 PRY
IPR003877 SPRY_dom
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS
PfamiView protein in Pfam
PF00622 SPRY, 1 hit
PRINTSiPR01407 BUTYPHLNCDUF
SMARTiView protein in SMART
SM00589 PRY, 1 hit
SM00184 RING, 1 hit
SM00449 SPRY, 1 hit
SUPFAMiSSF49899 SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS50188 B302_SPRY, 1 hit
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MAGLGLGSAV PVWLAEDDLG CIICQGLLDW PATLPCGHSF CRHCLEALWG 
        60         70         80         90        100
ARDARRWACP TCRQGAAQQP HLRKNTLLQD LADKYRRAAR EIQAGSDPAH 
       110        120        130        140        150
CPCPGSSSLS SAAARPRRRP ELQRVAVEKS ITEVAQELTE LVEHLVDIVR 
       160        170        180        190        200
SLQNQRPLSE SGPDNELSIL GKAFSSGVDL SMASPKLVTS DTAAGKIRDI 
       210        220        230        240        250
LHDLEEIQEK LQESVTWKEA PEAQMQGELL EAPSSSSCPL PDQSHPALRR 
       260        270        280        290        300
ASRFAQWAIH PTFNLKSLSC SLEVSKDSRT VTVSHRPQPY RWSCERFSTS 
       310        320        330        340        350
QVLCSQALSS GKHYWEVDTR NCSHWAVGVA SWEMSRDQVL GRTMDSCCVE 
       360        370        380        390        400
WKGTSQLSAW HMVKETVLGS DRPGVVGIWL NLEEGKLAFY SVDNQEKLLY 
       410        420        430 
ECTISASSPL YPAFWLYGLH PGNYLIIKQV KV
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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QS68J3QS68_HUMAN
E3 ubiquitin-protein ligase RNF135
RNF135
158Annotation score:
H7C3H8H7C3H8_HUMAN
E3 ubiquitin-protein ligase RNF135
RNF135
162Annotation score:
K7EQF1K7EQF1_HUMAN
E3 ubiquitin-protein ligase RNF135
RNF135
86Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti274V → G in CAD43140 (PubMed:12696059).Curated1
Sequence conflicti274V → G in AAT06743 (PubMed:15334068).Curated1
Sequence conflicti293S → N in CAD43140 (PubMed:12696059).Curated1
Sequence conflicti293S → N in AAT06743 (PubMed:15334068).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03116571H → Q1 PublicationCorresponds to variant dbSNP:rs7225888Ensembl.1
Natural variantiVAR_031166108S → P1 PublicationCorresponds to variant dbSNP:rs7211440Ensembl.1
Natural variantiVAR_063495115R → K1 PublicationCorresponds to variant dbSNP:rs111902263EnsemblClinVar.1
Natural variantiVAR_037652286R → H in MMFD; an individual with overgrowth, learning disability and dysmorphic features. 1 PublicationCorresponds to variant dbSNP:rs121918162EnsemblClinVar.1
Natural variantiVAR_063496415W → C1 PublicationCorresponds to variant dbSNP:rs61749868EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_023785173 – 210AFSSG…EIQEK → ENSWKPRLPPHAHCLTRATL HSGELLGLLSGPSIQPLT in isoform 2. 2 PublicationsAdd BLAST38
Alternative sequenceiVSP_023786211 – 432Missing in isoform 2. 2 PublicationsAdd BLAST222
Alternative sequenceiVSP_045359228 – 286ELLEA…TVSHR → SLLPRLECSGTITAASISQA QENSWKPRLPPHAHCLTRAT LHSGELLGLLSGPSIQPLT in isoform 3. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_045360287 – 432Missing in isoform 3. 1 PublicationAdd BLAST146

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4 human [Q8IUD6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Leiden Open Variation Database

Ring finger protein 135 (RNF135)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliQ8IUD6
SMRiQ8IUD6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124009, 15 interactors
IntActiQ8IUD6, 8 interactors
STRINGi9606.ENSP00000328340

PTM databases

iPTMnetiQ8IUD6
PhosphoSitePlusiQ8IUD6

Polymorphism and mutation databases

BioMutaiRNF135
DMDMi269849639

Proteomic databases

EPDiQ8IUD6
MaxQBiQ8IUD6
PaxDbiQ8IUD6
PeptideAtlasiQ8IUD6
PRIDEiQ8IUD6
ProteomicsDBi70552
70553 [Q8IUD6-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324689; ENSP00000323693; ENSG00000181481 [Q8IUD6-2]
ENST00000328381; ENSP00000328340; ENSG00000181481 [Q8IUD6-1]
ENST00000535306; ENSP00000440470; ENSG00000181481 [Q8IUD6-3]
GeneIDi84282
KEGGihsa:84282
UCSCiuc002hfz.4 human [Q8IUD6-1]

Organism-specific databases

CTDi84282
DisGeNETi84282
EuPathDBiHostDB:ENSG00000181481.13
GeneCardsiRNF135
HGNCiHGNC:21158 RNF135
HPAiHPA021576
HPA052404
MalaCardsiRNF135
MIMi611358 gene
614192 phenotype
neXtProtiNX_Q8IUD6
OpenTargetsiENSG00000181481
Orphaneti137634 Overgrowth-macrocephaly-facial dysmorphism syndrome
PharmGKBiPA134978537
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2177 Eukaryota
ENOG4111G04 LUCA
GeneTreeiENSGT00830000128449
HOGENOMiHOG000059562
HOVERGENiHBG056606
InParanoidiQ8IUD6
KOiK16272
OMAiNCSHWAV
OrthoDBiEOG091G062V
PhylomeDBiQ8IUD6
TreeFamiTF351089

Enzyme and pathway databases

UniPathwayi
UPA00143

ReactomeiR-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-5689896 Ovarian tumor domain proteases
R-HSA-918233 TRAF3-dependent IRF activation pathway
R-HSA-933541 TRAF6 mediated IRF7 activation
R-HSA-933542 TRAF6 mediated NF-kB activation
R-HSA-933543 NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
R-HSA-936440 Negative regulators of DDX58/IFIH1 signaling

Miscellaneous databases

ChiTaRSiRNF135 human
GeneWikiiRNF135
GenomeRNAii84282
PROiPR:Q8IUD6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181481 Expressed in 205 organ(s), highest expression level in layer of synovial tissue
CleanExiHS_RNF135
ExpressionAtlasiQ8IUD6 baseline and differential
GenevisibleiQ8IUD6 HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR001870 B30.2/SPRY
IPR003879 Butyrophylin_SPRY
IPR013320 ConA-like_dom_sf
IPR006574 PRY
IPR003877 SPRY_dom
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS
PfamiView protein in Pfam
PF00622 SPRY, 1 hit
PRINTSiPR01407 BUTYPHLNCDUF
SMARTiView protein in SMART
SM00589 PRY, 1 hit
SM00184 RING, 1 hit
SM00449 SPRY, 1 hit
SUPFAMiSSF49899 SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS50188 B302_SPRY, 1 hit
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRN135_HUMAN
AccessioniPrimary (citable) accession number: Q8IUD6
Secondary accession number(s): A0AVM5
, B2R7G9, B6ZLM5, F5GX60, Q9BSE9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: November 24, 2009
Last modified: November 7, 2018
This is version 137 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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