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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RNF103 Gene

protein-coding   GIFtS: 44
GCID: GC02M086830

Ring Finger Protein 103

(Previous name: zinc finger protein 103 homolog (mouse))
(Previous symbol: ZFP103)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ring Finger Protein 1031 2 3     ZFP-1032
ZFP1031 2 3 5     E3 Ubiquitin-Protein Ligase RNF1032
Zinc Finger Protein 103 Homolog2 3     Zinc Finger Protein Expressed In Cerebellum2
KF-12 3     EC 6.3.2.-3
KF12 5     Zfp-1033
Zinc Finger Protein 103 Homolog (Mouse)1     hKF-13
HKF-12     

External Ids:    HGNC: 128591   Entrez Gene: 78442   Ensembl: ENSG000002393057   OMIM: 6025075   UniProtKB: O002373   

Export aliases for RNF103 gene to outside databases

Previous GC identifers: GC02M086788 GC02M086805 GC02M086742 GC02M086584 GC02M086684


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and serous cystadenocarcinoma. GO annotations related to this gene include ubiquitin-protein ligase activity and zinc ion binding.

UniProtKB/Swiss-Prot: RN103_HUMAN, O00237
Function: Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein
degradation pathway




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RNF103 gene promoter:
         AML1a   HTF   E4BP4   YY1   GATA-1   AREB6   HFH-1   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNF103 promoter sequence
   Search SABiosciences Chromatin IP Primers for RNF103

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNF103


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p11.2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.2

RNF103 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF103 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M086830:  view genomic region     (about GC identifiers)

Start:
86,830,516 bp from pter      End:
86,851,000 bp from pter
Size:
20,485 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RN103_HUMAN, O00237 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase RNF103  
Size: 685 amino acids; 79405 Da
Subunit: Interacts with DERL1 and VCP
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: A6NFV6 Q53SU6 Q8IVB9

Explore the universe of human proteins at neXtProt for RNF103: NX_O00237

Explore proteomics data for RNF103 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00237

  • RNF103 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RNF103 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001185880.1  NP_001185881.1  NP_005658.1  

    ENSEMBL proteins: 
     ENSP00000237455  

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    Cloud-Clone Corp. Proteins for RNF103 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA18675248
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--

    RNF103 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RNF: RING-type (C3HC4) zinc fingers

    2 InterPro protein domains:
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry O00237

    ProtoNet protein and cluster: O00237

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: RN103_HUMAN, O00237
    Similarity: Contains 1 RING-type zinc finger


    RNF103 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RN103_HUMAN, O00237
    Function: Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein
    degradation pathway

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA10500182
    GO:0005515protein binding IPI18675248
    GO:0008270zinc ion binding IEA--
    GO:0046872metal ion binding ----
         
    RNF103 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for RNF103:
     G0/1 arrest  Increased G1 DNA content  Increased Salmonella enterica   Increased circadian rhythm amp 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rnf103):
     behavior/neurological  nervous system 

    RNF103 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rnf103tm1.1Thg for RNF103

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RNF103 
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    SwitchGear 3'UTR luciferase reporter plasmidRNF103 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    UniProtKB/Swiss-Prot: RN103_HUMAN, O00237
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RNF103

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/12 Interacting proteins for RNF103 (O002373 ENSP000002374554) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2D2P628373, ENSP000003817174I2D: score=2 STRING: ENSP00000381717
    UBE2D3P610773, ENSP000003497224I2D: score=2 STRING: ENSP00000349722
    UBE2NP610883, ENSP000003161764I2D: score=2 STRING: ENSP00000316176
    UBE2WQ96B023, ENSP000003974534I2D: score=2 STRING: ENSP00000397453
    VCPP550723, ENSP000003517774I2D: score=1 STRING: ENSP00000351777
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007417central nervous system development TAS9070305
    GO:0016567protein ubiquitination IDA10500182
    GO:0030433ER-associated protein catabolic process IDA18675248

    RNF103 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RNF103 (RN103)

    Search CenterWatch for drugs/clinical trials and news about RNF103 / RN103

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RNF103 gene (3 alternative transcripts): 
    NM_001198951.1  NM_001198952.1  NM_005667.3  

    Unigene Cluster for RNF103:

    Ring finger protein 103
    Hs.469199  [show with all ESTs]
    Unigene Representative Sequence: NM_005667
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000237455(uc021vkg.1 uc002srn.3) ENST00000472030(uc002srm.3)
    ENST00000463333 ENST00000477307 ENST00000465629(uc002srp.3) ENST00000472680

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    hsa-miR-323-3p hsa-miR-513a-3p hsa-miR-586 hsa-miR-218 hsa-miR-888 hsa-miR-3143 hsa-miR-32* hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmidRNF103 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK314180.1 BC022477.1 BC035053.2 BC110333.1 D76444.1 

    12 DOTS entries:

    DT.317273  DT.100688843  DT.99970935  DT.92428939  DT.95166340  DT.120975294  DT.120975319  DT.120975329 
    DT.100660332  DT.114628  DT.317275  DT.95166332 

    24/686 AceView cDNA sequences (see all 686):

    BU071228 AA505885 F37077 AI658559 AI866298 AA195697 AI279015 BX503178 
    AW298774 AI241635 AI521519 BP382129 AI401606 BE677600 AI889278 BU071452 
    AA935264 BF589899 CB850865 BU179858 AI744106 N42506 BQ641697 BM456272 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RNF103 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RNF103 Expression
    About this image


    See RNF103 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RNF103

    SOURCE GeneReport for Unigene cluster: Hs.469199

    UniProtKB/Swiss-Prot: RN103_HUMAN, O00237
    Tissue specificity: Highly expressed in the normal cerebellum but not in the cerebral cortex

        SABiosciences Expression via Pathway-Focused PCR Array including RNF103: 
              Ubiquitin Ligases in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for RNF103 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf1031 , 5 ring finger protein 1031, 5 92.73(n)1
    95.75(a)1
      6 (32.16 cM)5
    226441  NM_009543.21  NP_033569.21 
     714938945 
    chicken
    (Gallus gallus)
    Aves RNF1031 ring finger protein 103 80.87(n)
    87.41(a)
      422919  NM_001031169.1  NP_001026340.1 
    lizard
    (Anolis carolinensis)
    Reptilia RNF1036
    Uncharacterized protein
    88(a)
    1 ↔ 1
    6(60521535-60538730)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.174372 Xenopus laevis x-kf-1b mRNA for KF-1b, complete cds 77.53(n)    AB083247.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BI876087.12   -- 77.88(n)    BI876087.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    3 SNPs in RNF103 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs360756241,2
    C--86830063(+) AAAAAA/-AAAAA 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs38341351,2
    C--86851479(-) TAGTA-/TAACGCG 2 -- us2k10--------
    rs672295551,2
    ----86842662(+) TATAA-/TA    
       
    /TATA
    TATAT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for RNF103 (86830516 - 86851000 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RNF103:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv436305CNV Deletion17901297

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602507    OMIM disorders: --

    6 diseases for RNF103:    About MalaCards
    herpes gestationis    serous cystadenocarcinoma    cerebritis    cystadenocarcinoma
    bullous pemphigoid    epidermolysis bullosa


    RNF103 for disorders           About GeneDecksing


    Export disorders for RNF103 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RNF103 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with RNF103)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of human and mouse cDNAs encoding novel zinc finger proteins expressed in cerebellum and hippocampus. (PubMed id 9070305)1, 2, 3, 9 Yasojima K.... Hashimoto-Gotoh T. (1997)
    2. Ubiquitin ligase Kf-1 is involved in the endoplasmic reticulum-associated degradation pathway. (PubMed id 18675248)1, 2 Maruyama Y....Yamada M. (2008)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination. (PubMed id 10500182)1, 2 Lorick K.L....Weissman A.M. (1999)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Analysis of electrostatic contributions to the selectivity of interactions between RING-finger domains and ubiquitin-conjugating enzymes. (PubMed id 18615712)1 Scheper J....Thomson T.M. (2009)
    8. A comprehensive framework of E2-RING E3 interactions of the human ubiquitin-proteasome system. (PubMed id 19690564)1 van Wijk S.J....Timmers H.T. (2009)
    9. The RING finger protein RNF8 recruits UBC13 for lysine 63-based self polyubiquitylation. (PubMed id 16215985)1 Plans V.... Thomson T.M. (2006)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7844 HGNC: 12859 AceView: RNF103andVPS24 Ensembl:ENSG00000239305 euGenes: HUgn7844
    ECgene: RNF103 H-InvDB: RNF103

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RNF103 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RNF103 gene:
    Search GeneIP for patents involving RNF103

    GeneCards and IP:
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