Aliases for RNF103 Gene
Aliases for RNF103 Gene
External Ids for RNF103 Gene
- HGNC: 12859
- Entrez Gene: 7844
- Ensembl: ENSG00000239305
- OMIM: 602507
- UniProtKB: O00237
Previous HGNC Symbols for RNF103 Gene
- ZFP103
Previous GeneCards Identifiers for RNF103 Gene
- GC02M086788
- GC02M086805
- GC02M086742
- GC02M086584
- GC02M086830
Summaries 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 Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (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.
Additional gene information for RNF103 Gene
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
GeneHancer (GH) Regulatory Elements for RNF103 Gene
Promoters and enhancers for RNF103 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around RNF103 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for RNF103 Gene
Genes around RNF103 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p11.2 by Ensembl
- 2p11.2 by Entrez Gene
- 2p11.2 by HGNC
RNF103 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A6NFV6
- B2RAG4
- Q53SU6
- Q8IVB9
Protein attributes for RNF103 Gene
- Size:
- 685 amino acids
- Molecular mass:
- 79405 Da
- Quaternary structure:
-
- Interacts with DERL1 and VCP.
Protein Expression for RNF103 Gene
Post-translational modifications for RNF103 Gene
Other Protein References for RNF103 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Protein Products
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Quality Products:
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Abcam proteins for RNF103
Assay Products
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for RNF103 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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
Phenotypes From GWAS Catalog 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:1904264 | ubiquitin protein ligase activity involved in ERAD pathway | TAS | -- |
Phenotypes for RNF103 Gene
- MGI mutant phenotypes for RNF103:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RNF103:
Animal Models for RNF103 Gene
- MGI Knock Outs for RNF103:
-
- Rnf103 tm1.1Thg
Animal Model Products
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-
-
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miRNA for RNF103 Gene
- miRTarBase miRNAs that target RNF103
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Inhibitory RNA Products
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available RNF103 gene related products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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Horizon Cell Lines for RNF103
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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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IDA,IEA | 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RNF103 Gene
Pathways & Interactions for RNF103 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Calnexin/calreticulin cycle | ||
| 2 | Metabolism of proteins | ||
| 3 | Transport to the Golgi and subsequent modification | ||
Pathways by source for RNF103 Gene
UniProtKB/Swiss-Prot O00237-RN103_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for RNF103 Gene
Transcripts for RNF103 Gene
mRNA/cDNA for RNF103 Gene
- (3) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (686) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for RNF103 Gene
CRISPR Products
-
OriGene CRISPR knockouts for RNF103
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RNF103
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miRNA Products
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Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for RNF103
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for RNF103
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available RNF103 gene related products
- orf clones - Search results for available RNF103 gene related products
- Applied Biological Materials Clones for RNF103
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for RNF103 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Hematopoietic Bone Marrow
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of RNF103 Gene:
RNF103SOURCE GeneReport for Unigene cluster for RNF103 Gene:
Hs.469199mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for RNF103
-
OriGene qPCR primer pairs and template standards for RNF103
- genomics-online: primer clones - Search results for available RNF103 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RNF103 33 |
|
||
| dog (Canis familiaris) |
Mammalia | RNF103 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | RNF103 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Rnf103 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rnf103 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RNF103 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RNF103 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RNF103 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | RNF103 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | rnf103 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.17437 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rnf103 33 34 |
|
- 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)
Paralogs for RNF103 Gene
No data available for Paralogs for RNF103 Gene
Variants for RNF103 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000148956 | -- | 86,603,554(-) | T/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1000151460 | -- | 86,611,207(-) | C/G/T | genic_downstream_transcript_variant, intron_variant | |
| rs1000209827 | -- | 86,604,068(-) | C/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs1000402076 | -- | 86,614,811(-) | T/C | genic_downstream_transcript_variant, intron_variant | |
| rs1000438771 | -- | 86,608,693(-) | C/A | genic_downstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1011590 | CNV | gain | 25217958 |
| nsv1072419 | CNV | deletion | 25765185 |
| nsv436305 | CNV | deletion | 17901297 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF103 Gene
Disorders for RNF103 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| herpes gestationis |
|
|
Search RNF103 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RNF103
No data available for UniProtKB/Swiss-Prot and Genatlas for RNF103 Gene
Publications for RNF103 Gene
- 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 22 58
- 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 58
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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 58
Products for RNF103 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 39 available RNF103 Antibodies ranked by validation data
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- genomics-online: cdna clones - Search results for available RNF103 gene related products
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Sources for RNF103 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
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