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 ant... See more...

Aliases for RNF103 Gene

Aliases for RNF103 Gene

  • Ring Finger Protein 103 2 3 5
  • RING-Type E3 Ubiquitin Transferase RNF103 3 4
  • E3 Ubiquitin-Protein Ligase RNF103 3 4
  • Zinc Finger Protein 103 Homolog 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
  • RING Finger Protein 103 4
  • EC 2.3.2.27 4
  • ZFP-103 3
  • Zfp-103 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
  • GC02M086684
  • 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 Autoimmune Disease Of Skin And Connective Tissue and Epidermolysis Bullosa Dystrophica. Among its related pathways are Metabolism of proteins and Calnexin/calreticulin cycle. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot Summary for RNF103 Gene

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

Additional gene information for RNF103 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNF103 Gene

Genomics for RNF103 Gene

GeneHancer (GH) Regulatory Elements for RNF103 Gene

Promoters and enhancers for RNF103 Gene
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 500.7 +1.2 1177 4.6 EP300 HNRNPK ZBTB40 ZNF217 SIN3A NRF1 POLR2G NCOR1 PHF8 ZFX RNF103 CHMP3 RNU6-640P SNORD94 MRPL35 POLR1A PLGLB1 IMMT HE856098 RNF103-CHMP3
GH02J086603 Promoter 0.7 EPDnew Ensembl 512.4 +20.2 20176 0.2 RNF103 RNF103-CHMP3 CHMP3 RNU6-640P MRPL35 HE856098 RF01061-087 ENSG00000228363 LOC105374845
GH02J086604 Promoter 0.5 EPDnew 500.4 +19.5 19549 0.1 NFE2 MEIS2 RNF103 CHMP3 RNU6-640P KDM3A HE856098 RF01061-087 ENSG00000228363 LOC105374845 RNF103-CHMP3
GH02J086625 Enhancer 0.3 Ensembl 500.7 -1.4 -1424 0.2 TEAD3 RNF103 piR-55361-313 RNF103-CHMP3
GH02J086626 Enhancer 0.2 Ensembl 500.7 -1.8 -1824 0.2 RNF103 piR-55361-313 RNF103-CHMP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNF103 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNF103

Top Transcription factor binding sites by QIAGEN in the RNF103 gene promoter:
  • AML1a
  • AREB6
  • E4BP4
  • GATA-1
  • HFH-1
  • HTF
  • SEF-1 (1)
  • YY1

Genomic Locations for RNF103 Gene

Genomic Locations for RNF103 Gene
chr2:86,603,393-86,623,877
(GRCh38/hg38)
Size:
20,485 bases
Orientation:
Minus strand
chr2:86,830,516-86,851,000
(GRCh37/hg19)
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

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for RNF103 Gene

Blocks:
  • Zn-finger, RING
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RNF103 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 103 homolog (RN103_HUMAN)
genes like me logo Genes that share domains with RNF103: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RNF103 Gene

Function for RNF103 Gene

Molecular function for RNF103 Gene

UniProtKB/Swiss-Prot Function:
Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=2.3.2.27;.

Enzyme Numbers (IUBMB) for RNF103 Gene

Phenotypes From GWAS Catalog 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:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity TAS --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF103

Clone 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
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RNF103 Gene

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 --
genes like me logo Genes that share ontologies with RNF103: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RNF103 Gene

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 ubiquitin-dependent ERAD pathway 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

mRNA/cDNA for RNF103 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF103

Clone 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

Expression for RNF103 Gene

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



Protein tissue co-expression partners for RNF103 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 30
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia RNF103 31 30
  • 95.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RNF103 31 30
  • 94.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf103 17 31 30
  • 92.63 (n)
rat
(Rattus norvegicus)
Mammalia Rnf103 30
  • 92.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF103 31
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF103 31
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF103 31 30
  • 80.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF103 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf103 30
  • 74.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17437 30
zebrafish
(Danio rerio)
Actinopterygii rnf103 31 30
  • 69.41 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for RNF103: view image

Paralogs for RNF103 Gene

No data available for Paralogs for RNF103 Gene

Variants for RNF103 Gene

Additional dbSNP identifiers (rs#s) for RNF103 Gene

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)

Additional Variant Information for RNF103 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF103 Gene

Disorders for RNF103 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RNF103 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autoimmune disease of skin and connective tissue
epidermolysis bullosa dystrophica
  • dystrophic epidermolysis bullosa
vesiculobullous skin disease
  • skin diseases, vesiculobullous
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 (Biochemical and biophysical research communications 1997) 2 3 4 23 54
  2. Ubiquitin ligase Kf-1 is involved in the endoplasmic reticulum-associated degradation pathway. (PMID: 18675248) Maruyama Y … Yamada M (Biochemical and biophysical research communications 2008) 3 4 54
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for RNF103 Gene

Sources for RNF103 Gene