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The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]
RNF34 (Ring Finger Protein 34) is a Protein Coding gene. Diseases associated with RNF34 include Adermatoglyphia and Osteogenesis Imperfecta, Type I. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase binding. An important paralog of this gene is RFFL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002039 | p53 binding | IPI | 17121812 |
GO:0004842 | ubiquitin-protein transferase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 15069192 |
GO:0016740 | transferase activity | IEA | -- |
GO:0031625 | ubiquitin protein ligase binding | IPI | 18382127 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 22064484 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 15069192 |
GO:0005829 | cytosol | IEA | -- |
GO:0005886 | plasma membrane | IEA,IDA | 15069192 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Gene Expression |
.48
|
|
3 | Regulation of TP53 Activity | ||
4 | Regulation of TP53 Expression and Degradation | ||
5 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006511 | ubiquitin-dependent protein catabolic process | IEA,IMP | 22064484 |
GO:0006915 | apoptotic process | IEA | -- |
GO:0016567 | protein ubiquitination | IMP | 22064484 |
GO:0035872 | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway | IMP | 25012219 |
GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | IEA,IMP | 22064484 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | · | 10c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP8: | - | - | - | ||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RNF34 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RNF34 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RNF34 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rnf34 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rnf34 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | RNF34 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RNF34 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RNF34 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rnf34 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rnf34a 30 31 |
|
OneToMany | |
rnf34b 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG17019 31 32 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
778448 | Benign: not provided | 121,417,808(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv522e212 | CNV | loss | 25503493 |
Disorder | Aliases | PubMed IDs |
---|---|---|
adermatoglyphia |
|
|
osteogenesis imperfecta, type i |
|
|