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Aliases for RNF103 Gene

Aliases for RNF103 Gene

  • Ring Finger Protein 103 2 3
  • RING-Type E3 Ubiquitin Transferase RNF103 3 4
  • Zinc Finger Protein 103 Homolog 3 4
  • RING Finger Protein 103 4 5
  • ZFP-103 3 4
  • ZFP103 3 4
  • HKF-1 3 4
  • KF-1 3 4
  • Zinc Finger Protein Expressed In Cerebellum 3
  • Zinc Finger Protein 103 Homolog (Mouse) 2
  • E3 Ubiquitin-Protein Ligase RNF103 3
  • EC 2.3.2.27 4
  • KF1 3

External Ids for RNF103 Gene

Previous HGNC Symbols for RNF103 Gene

  • ZFP103

Previous GeneCards Identifiers for RNF103 Gene

  • GC02M086788
  • GC02M086805
  • GC02M086742
  • GC02M086584
  • GC02M086830

Summaries for RNF103 Gene

Entrez Gene Summary for RNF103 Gene

  • 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]

GeneCards Summary for RNF103 Gene

RNF103 (Ring Finger Protein 103) is a Protein Coding gene. Diseases associated with RNF103 include Herpes Gestationis. Among its related pathways are Calnexin/calreticulin cycle and Transport to the Golgi and subsequent modification. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot for RNF103 Gene

  • Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF103 Gene

Genomics for RNF103 Gene

Regulatory Elements for RNF103 Gene

Enhancers for RNF103 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G086694 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -71.5 -71519 1.5 FOXA2 GLI4 TCF12 FOS SP3 NFYC NCOA1 SREBF1 SMARCA4 SP7 SNORD94 LOC102724642 RNF103-CHMP3 RNF103 CHMP3 RNU6-640P RMND5A CD8A ENSG00000231259 GC02P086686
GH02G086583 1.1 Ensembl ENCODE 12 +39.5 39523 1.2 HDAC1 PKNOX1 ATF1 TBL1XR1 TCF12 GATA2 FOS ZBTB11 CEBPB ZEB2 RNF103 RNF103-CHMP3 GC02M086575 CHMP3
GH02G086671 0.8 ENCODE 11.9 -47.9 -47896 0.2 SOX13 FOXA2 ATF1 ZBTB21 JUN MAX FOSL1 GATA3 GATA2 GATAD2A RNF103 RNF103-CHMP3 CHMP3 RNU6-640P GC02P086686
GH02G086465 0.9 dbSUPER 10.3 +155.3 155262 5.2 FOXA2 GLI4 TCF12 ZNF121 FOS SP3 NFYC JUNB NCOA1 SREBF1 SNORD94 LOC102724642 CHMP3 KDM3A RNU6-640P RNF103 RNF103-CHMP3 MRPL35 GC02M086424 GC02P086487
GH02G086747 0.7 ENCODE 11.7 -124.3 -124298 1.5 CEBPG BMI1 IRF9 TRIM24 RFX1 ZNF740 HLF CEBPB EP300 POLR2H RNF103-CHMP3 RNF103 CHMP3 RNU6-640P CD8A RMND5A IMMT GC02M086689 LOC105374846
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNF103 on UCSC Golden Path with GeneCards custom track

Promoters for RNF103 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000119755 1277 3201 PKNOX1 ARNT ARID4B SIN3A DMAP1 SLC30A9 ZNF263 SP3 SP5 MXD4

Genomic Location for RNF103 Gene

Chromosome:
2
Start:
86,603,393 bp from pter
End:
86,623,877 bp from pter
Size:
20,485 bases
Orientation:
Minus strand

Genomic View for RNF103 Gene

Genes around RNF103 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF103 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF103 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF103 Gene

Proteins for RNF103 Gene

  • Protein details for RNF103 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00237-RN103_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF103
    Protein Accession:
    O00237
    Secondary Accessions:
    • A6NFV6
    • B2RAG4
    • Q53SU6
    • Q8IVB9

    Protein attributes for RNF103 Gene

    Size:
    685 amino acids
    Molecular mass:
    79405 Da
    Quaternary structure:
    • Interacts with DERL1 and VCP.

neXtProt entry for RNF103 Gene

Post-translational modifications for RNF103 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RNF103 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RNF103 Gene

Domains & Families for RNF103 Gene

Gene Families for RNF103 Gene

Protein Domains for RNF103 Gene

Suggested Antigen Peptide Sequences for RNF103 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RNF103: view

No data available for UniProtKB/Swiss-Prot for RNF103 Gene

Function for RNF103 Gene

Molecular function for RNF103 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway.

Enzyme Numbers (IUBMB) for RNF103 Gene

Gene Ontology (GO) - Molecular Function for RNF103 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 10500182
GO:0005515 protein binding IPI 18675248
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF103: view
genes like me logo Genes that share phenotypes with RNF103: view

Animal Models for RNF103 Gene

MGI Knock Outs for RNF103:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RNF103 Gene

Localization for RNF103 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF103 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF103 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RNF103 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 18675248
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0044322 endoplasmic reticulum quality control compartment IEA --
genes like me logo Genes that share ontologies with RNF103: view

Pathways & Interactions for RNF103 Gene

genes like me logo Genes that share pathways with RNF103: view

UniProtKB/Swiss-Prot O00237-RN103_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF103 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007417 central nervous system development TAS 9070305
GO:0016567 protein ubiquitination IEA --
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IDA 18675248
GO:1904380 endoplasmic reticulum mannose trimming TAS --
genes like me logo Genes that share ontologies with RNF103: view

No data available for SIGNOR curated interactions for RNF103 Gene

Drugs & Compounds for RNF103 Gene

No Compound Related Data Available

Transcripts for RNF103 Gene

Unigene Clusters for RNF103 Gene

Ring finger protein 103:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF103 Gene

No ASD Table

Relevant External Links for RNF103 Gene

GeneLoc Exon Structure for
RNF103
ECgene alternative splicing isoforms for
RNF103

Expression for RNF103 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF103 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RNF103 Gene

This gene is overexpressed in Urine (58.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RNF103 Gene



Protein tissue co-expression partners for RNF103 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNF103 Gene:

RNF103

SOURCE GeneReport for Unigene cluster for RNF103 Gene:

Hs.469199

mRNA Expression by UniProt/SwissProt for RNF103 Gene:

O00237-RN103_HUMAN
Tissue specificity: Highly expressed in the normal cerebellum but not in the cerebral cortex.

Evidence on tissue expression from TISSUES for RNF103 Gene

  • Nervous system(4.8)
  • Blood(4.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with RNF103: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF103 Gene

Orthologs for RNF103 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RNF103 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF103 34
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia RNF103 34 35
  • 95.35 (n)
cow
(Bos Taurus)
Mammalia RNF103 34 35
  • 94.35 (n)
mouse
(Mus musculus)
Mammalia Rnf103 35 16 34
  • 92.63 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf103 34
  • 92.38 (n)
oppossum
(Monodelphis domestica)
Mammalia RNF103 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNF103 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF103 35 34
  • 80.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF103 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf103 34
  • 74.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17437 34
zebrafish
(Danio rerio)
Actinopterygii rnf103 34 35
  • 69.41 (n)
Species where no ortholog for RNF103 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RNF103 Gene

ENSEMBL:
Gene Tree for RNF103 (if available)
TreeFam:
Gene Tree for RNF103 (if available)

Paralogs for RNF103 Gene

No data available for Paralogs for RNF103 Gene

Variants for RNF103 Gene

Sequence variations from dbSNP and Humsavar for RNF103 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000148956 -- 86,603,554(+) CTATC(C/T)TGTAA intron-variant, utr-variant-3-prime
rs1000151460 -- 86,611,207(+) AAAGA(C/G/T)TTTGT intron-variant
rs1000209827 -- 86,604,068(+) GCAGG(A/C)CAAGT intron-variant, reference, missense
rs1000402076 -- 86,614,811(+) AATCA(C/T)ACTAC intron-variant
rs1000438771 -- 86,608,693(+) TACCA(A/C)TCAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RNF103 Gene

Variant ID Type Subtype PubMed ID
nsv1011590 CNV gain 25217958
nsv1072419 CNV deletion 25765185
nsv436305 CNV deletion 17901297

Variation tolerance for RNF103 Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.08; 50.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF103 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF103

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF103 Gene

Disorders for RNF103 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RNF103 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
herpes gestationis
  • gestational herpes
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RNF103

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF103
genes like me logo Genes that share disorders with RNF103: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNF103 Gene

Publications for RNF103 Gene

  1. Cloning of human and mouse cDNAs encoding novel zinc finger proteins expressed in cerebellum and hippocampus. (PMID: 9070305) Yasojima K. … Hashimoto-Gotoh T. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 22 64
  2. Ubiquitin ligase Kf-1 is involved in the endoplasmic reticulum- associated degradation pathway. (PMID: 18675248) Maruyama Y. … Yamada M. (Biochem. Biophys. Res. Commun. 2008) 3 4 64
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for RNF103 Gene

Sources for RNF103 Gene

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