RNF135
E3 ubiquitin-protein ligase RNF135
Also known as: MGC13061, RN135_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IUD6
- Gene
- RNF135
- Ensembl
- ENSG00000181481
- Chromosome
- 17
- Canonical length
- 432 aa
- Protein class
- Enzymes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Vesicles
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
432 residues, UniProt reviewed canonical sequence.
>Q8IUD6|RNF135
1 MAGLGLGSAV PVWLAEDDLG CIICQGLLDW PATLPCGHSF CRHCLEALWG ARDARRWACP
61 TCRQGAAQQP HLRKNTLLQD LADKYRRAAR EIQAGSDPAH CPCPGSSSLS SAAARPRRRP
121 ELQRVAVEKS ITEVAQELTE LVEHLVDIVR SLQNQRPLSE SGPDNELSIL GKAFSSGVDL
181 SMASPKLVTS DTAAGKIRDI LHDLEEIQEK LQESVTWKEA PEAQMQGELL EAPSSSSCPL
241 PDQSHPALRR ASRFAQWAIH PTFNLKSLSC SLEVSKDSRT VTVSHRPQPY RWSCERFSTS
301 QVLCSQALSS GKHYWEVDTR NCSHWAVGVA SWEMSRDQVL GRTMDSCCVE WKGTSQLSAW
361 HMVKETVLGS DRPGVVGIWL NLEEGKLAFY SVDNQEKLLY ECTISASSPL YPAFWLYGLH
421 PGNYLIIKQV KVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RNF135 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.41
- Highest tissue expression
- 26 nTPM
Expression across tissuesHPA
Tissue
- skin: 26 nTPM
- spleen: 26 nTPM
- esophagus: 22 nTPM
- adipose tissue: 21 nTPM
- kidney: 20 nTPM
- breast: 19 nTPM
Single-cell type
- kupffer cells: 151 nCPM
- hofbauer cells: 84 nCPM
- neutrophils: 77 nCPM
- esophageal apical cells: 69 nCPM
- macrophages: 64 nCPM
- cytotrophoblasts: 63 nCPM
Immune cell
- non-classical monocyte: 71 nTPM
- classical monocyte: 62 nTPM
- intermediate monocyte: 57 nTPM
- neutrophil: 54 nTPM
- myeloid DC: 47 nTPM
- eosinophil: 31 nTPM
Brain region
- thalamus: 28 nTPM
- choroid plexus: 26 nTPM
- medulla oblongata: 23 nTPM
- white matter: 22 nTPM
- midbrain: 22 nTPM
- spinal cord: 20 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RNF135.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 137 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Macrocephaly, macrosomia, facial dysmorphism syndrome
- Autism spectrum disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.44
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.09
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- antiviral innate immune response
- free ubiquitin chain polymerization
- innate immune response
- positive regulation of interferon-beta production
- protein homooligomerization
- protein K63-linked ubiquitination
- protein polyubiquitination
- protein ubiquitination
- regulation of innate immune response
- RIG-I signaling pathway
Molecular functions
- identical protein binding
- ribonucleoprotein complex binding
- RIG-I binding
- ubiquitin protein ligase activity
- ubiquitin-protein transferase activity
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Zinc finger, RING-type
- B30.2/SPRY domain
- SPRY domain
- Butyrophylin-like, SPRY domain
- SPRY-associated
- Zinc finger, RING/FYVE/PHD-type
- Concanavalin A-like lectin/glucanase domain superfamily
- Zinc finger, RING-type, conserved site
- B30.2/SPRY domain superfamily
- E3 ubiquitin-protein ligase TRIM/RNF
- SPRY domain
- zinc finger of C3HC4-type, RING
- RNF135, PRY/SPRY domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RNF135 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RNF135 as an antibody target. Whether an autoantibody or antibody against RNF135 could matter depends on whether native RNF135 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RNF135 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RNF135 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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