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The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. The protein is a ubiquitin ligase that functions in the endoplasmic reticulum-associated degradation pathway. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream CHMP3 (charged multivesicular body protein 3) gene. [provided by RefSeq, Oct 2011]
RNF103 (Ring Finger Protein 103) is a Protein Coding gene. Diseases associated with RNF103 include Zinc Finger Protein 103 and Neuroschistosomiasis. Among its related pathways are Calnexin/calreticulin cycle and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH02J086621 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +1.2 | 1177 | 4.6 | HNRNPL CREB1 GATAD2A PRDM10 TFE3 RFX1 IKZF1 NFKBIZ POLR2A ZNF174 | RNF103 ENSG00000204745 SNORD94 CHMP3 RNU6-640P ANAPC1P1 MRPL35 POLR1A PLGLB1 IMMT | |
GH02J086603 | Promoter | 0.7 | EPDnew Ensembl | 612.4 | +20.2 | 20176 | 0.2 | RNF103 RNF103-CHMP3 CHMP3 RNU6-640P MRPL35 HE856098 RF01061-087 LOC105374845 ENSG00000228363 | ||
GH02J086604 | Promoter | 0.5 | EPDnew | 600.4 | +19.5 | 19549 | 0.1 | NFE2 MEIS2 | RNF103 CHMP3 RNU6-640P KDM3A HE856098 RF01061-087 LOC105374845 ENSG00000228363 RNF103-CHMP3 | |
GH02J086625 | Enhancer | 0.3 | Ensembl | 600.7 | -1.4 | -1424 | 0.2 | TEAD3 | RNF103 piR-55361-313 RMND5A RNF103-CHMP3 | |
GH02J086626 | Enhancer | 0.2 | Ensembl | 600.7 | -1.8 | -1824 | 0.2 | RNF103 piR-55361-313 RMND5A RNF103-CHMP3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | ubiquitin-protein transferase activity | IDA | 10500182 |
GO:0005515 | protein binding | IPI | 18675248 |
GO:0016740 | transferase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO:0061630 | ubiquitin protein ligase activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA,IDA | 18675248 |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0044322 | endoplasmic reticulum quality control compartment | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Calnexin/calreticulin cycle | ||
2 | Metabolism of proteins | ||
3 | Transport to the Golgi and subsequent modification |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007417 | central nervous system development | TAS | 9070305 |
GO:0016567 | protein ubiquitination | IDA,IEA | -- |
GO:0030433 | ubiquitin-dependent ERAD pathway | IDA | 18675248 |
GO:1904380 | endoplasmic reticulum mannose trimming | TAS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RNF103 30 |
|
||
Dog (Canis familiaris) |
Mammalia | RNF103 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RNF103 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rnf103 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rnf103 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | RNF103 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RNF103 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RNF103 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RNF103 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rnf103 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.17437 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rnf103 30 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1011590 | CNV | gain | 25217958 |
nsv1072419 | CNV | deletion | 25765185 |
nsv436305 | CNV | deletion | 17901297 |
Disorder | Aliases | PubMed IDs |
---|---|---|
zinc finger protein 103 |
|
|
neuroschistosomiasis |
|
|
epidermolysis bullosa dystrophica |
|
|
vesiculobullous skin disease |
|
|