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

RANGRF Gene

protein-coding   GIFtS: 48
GCID: GC17P008191

RAN Guanine Nucleotide Release Factor

  See related disease
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
RAN Guanine Nucleotide Release Factor1 2     MOG1 Homolog (S. Cerevisiae)1
Ran-Binding Protein MOG12 3     HSPC2362
MOG12 3     MOG1 Homolog2
RANGNRF2 3     RanGNRF3

External Ids:    HGNC: 176791   Entrez Gene: 290982   Ensembl: ENSG000001089617   OMIM: 6079545   UniProtKB: Q9HD473   

Export aliases for RANGRF gene to outside databases

Previous GC identifers: GC17P008133 GC17P008087


(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 RANGRF Gene:
This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to
regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results
in multiple transcript variants. (provided by RefSeq, Apr 2010)

GeneCards Summary for RANGRF Gene: 
RANGRF (RAN guanine nucleotide release factor) is a protein-coding gene. Diseases associated with RANGRF include brugada syndrome. GO annotations related to this gene include sodium channel regulator activity and guanyl-nucleotide exchange factor activity.

UniProtKB/Swiss-Prot: MOG1_HUMAN, Q9HD47
Function: May regulate the intracellular trafficking of RAN. In cardiac cells seems to regulate the cell surface
localization of SCN5A




(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_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RANGRF gene promoter:
         Bach1   C/EBPbeta   RP58   SREBP-1c   MyoD   SREBP-1b   SREBP-1a   FOXO4   Chx10   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRANGRF promoter sequence
   Search SABiosciences Chromatin IP Primers for RANGRF

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


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P008191:  view genomic region     (about GC identifiers)

Start:
8,191,815 bp from pter      End:
8,193,410 bp from pter
Size:
1,596 bases      Orientation:
plus 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: MOG1_HUMAN, Q9HD47 (See protein sequence)
Recommended Name: Ran guanine nucleotide release factor  
Size: 186 amino acids; 20448 Da
Subunit: Monomer (By similarity). Interacts with RAN, RAN-GTP and RAN-GDP. Forms a complex with RAN-GTP and RANBP1
(By similarity). Interacts with the cytoplasmic loop 2 of SCN5A
Subcellular location: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and cytoplasm
Sequence caution: Sequence=AAF29129.1; Type=Frameshift; Positions=62, 93; Sequence=AAF87316.1; Type=Frameshift;
Positions=62;
Secondary accessions: D3DTR6 Q68DI3 Q9BR68 Q9HD48 Q9NRU9 Q9P001 Q9P0P2
Alternative splicing: 4 isoforms:  Q9HD47-1   Q9HD47-2   Q9HD47-3   Q9HD47-4   

Explore the universe of human proteins at neXtProt for RANGRF: NX_Q9HD47

Explore proteomics data for RANGRF at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HD47

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

    RANGRF Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001171272.1  NP_001171273.1  NP_057576.2  

    ENSEMBL proteins: 
     ENSP00000226105   ENSP00000383940   ENSP00000462310   ENSP00000413190  

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    Cloud-Clone Corp. Proteins for RANGRF 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11290418
    GO:0005654nucleoplasm ISS--
    GO:0005737cytoplasm IDA11290418
    GO:0005791rough endoplasmic reticulum IDA--
    GO:0005886plasma membrane IC18184654

    RANGRF 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
    2 InterPro protein domains:
     IPR016123 Mog1/PsbP_a/b/a-sand
     IPR007681 Mog1

    Graphical View of Domain Structure for InterPro Entry Q9HD47

    ProtoNet protein and cluster: Q9HD47

    UniProtKB/Swiss-Prot: MOG1_HUMAN, Q9HD47
    Similarity: Belongs to the MOG1 family


    RANGRF 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: MOG1_HUMAN, Q9HD47
    Function: May regulate the intracellular trafficking of RAN. In cardiac cells seems to regulate the cell surface
    localization of SCN5A

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity ISS--
    GO:0008536Ran GTPase binding ISS--
    GO:0008565protein transporter activity IMP--
    GO:0017080sodium channel regulator activity IMP--
    GO:0044325ion channel binding IPI18184654
         
    RANGRF for ontologies           About GeneDecksing


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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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RANGRF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for RANGRF (Q9HD473 ENSP000002261054) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RANP628263, ENSP000003961274I2D: score=2 STRING: ENSP00000396127
    RANBP1P434873, ENSP000003275834I2D: score=1 STRING: ENSP00000327583
    NUTF2ENSP000002191694STRING: ENSP00000219169
    HDAC1ENSP000003626494STRING: ENSP00000362649
    PEMTENSP000002553894STRING: ENSP00000255389
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002027regulation of heart rate TAS--
    GO:0003254regulation of membrane depolarization IMP--
    GO:0006888ER to Golgi vesicle-mediated transport IMP--
    GO:0015031protein transport ----
    GO:0032527protein exit from endoplasmic reticulum IMP--

    RANGRF 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 RANGRF (MOG1)

    1 HMDB Compound for RANGRF    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about RANGRF / MOG1

    (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,
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    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 RANGRF gene (3 alternative transcripts): 
    NM_001177801.1  NM_001177802.1  NM_016492.4  

    Unigene Cluster for RANGRF:

    RAN guanine nucleotide release factor
    Hs.408233  [show with all ESTs]
    Unigene Representative Sequence: NM_001177802
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000226105(uc002gkv.3 uc002gkw.3) ENST00000407006(uc002gkx.3)
    ENST00000580434 ENST00000439238(uc002gky.3) ENST00000578849 ENST00000580777

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate RANGRF:
    hsa-miR-142-5p hsa-miR-340
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    Additional mRNA sequence: 

    AF151070.1 AF168714.1 AF265205.1 AF265206.1 AK290399.1 BC006486.1 BC012552.1 BC100017.1 
    CR457206.1 CR749387.1 

    8 DOTS entries:

    DT.86852501  DT.100798239  DT.92430422  DT.100798241  DT.92430420  DT.102826452  DT.102826455  DT.95098113 

    24/181 AceView cDNA sequences (see all 181):

    BX102136 BU786339 BQ181591 AI611839 BG684146 BQ007550 T31881 BU687447 
    AI356159 BU730473 AI886595 AV759821 AI591409 BM923902 BF432661 AF265205 
    BU625036 BM264596 BC006486 AI079205 AI093401 AW952583 NM_016492 AA748322 

    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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.408233

    UniProtKB/Swiss-Prot: MOG1_HUMAN, Q9HD47
    Tissue specificity: Isoform 1 and isoform 2 are ubiquitously expressed

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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 eukaryotes.

    Orthologs for RANGRF gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rangrf1 , 5 RAN guanine nucleotide release factor1, 5 86.49(n)1
    88.65(a)1
      11 (42.24 cM)5
    577851  NM_021329.21  NP_067304.11 
     689724845 
    lizard
    (Anolis carolinensis)
    Reptilia RANGRF6
    Uncharacterized protein
    48(a)
    1 ↔ 1
    GL343466.1(168780-181409)
    zebrafish
    (Danio rerio)
    Actinopterygii rangrf1 RAN guanine nucleotide release factor 52.27(n)
    47.73(a)
      559102  NM_001099995.1  NP_001093465.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MOG1(YJR074W)4 Conserved nuclear protein that interacts with GTP-Gsp1p, more   --   10(573095-573751) 853537  NP_012608.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G696801 Mog1/PsbP/DUF1795-like photosystem II reaction center more 44.63(n)
    32.77(a)
      843304  NM_105636.2  NP_564972.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04596001 hypothetical protein 46.78(n)
    33.52(a)
      4336045  NM_001059520.1  NP_001052985.1 


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

    10/103 SNPs in RANGRF are shown (see all 103)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1809652961,2
    --8178922(+) AAGTCC/TGAGAC 3 -- us2k10--------
    rs1850717621,2
    C--8178923(+) AGTCCA/GAGACC 3 -- us2k10--------
    rs1905522041,2
    --8178985(+) ACACAA/CAAATT 3 -- us2k10--------
    rs1499071451,2
    --8179064(+) GCCCAC/TAAGGT 3 -- us2k10--------
    rs569702091,2
    C,F--8179077(+) AGGCTG/TCAGTG 3 -- us2k13Minor allele frequency- T:0.05CSA WA NA 240
    rs65030971,2
    C,F,A,H--8179088(+) AGCTAT/CGACTG 3 -- us2k112Minor allele frequency- C:0.41NA WA CSA EA 377
    rs1171505951,2
    F--8179129(+) AGACCG/ACCTCT 3 -- us2k11Minor allele frequency- A:0.03EA 120
    rs99167371,2
    C--8179143(+) aaaaaA/Caaaca 3 -- us2k1 trp31Minor allele frequency- C:0.00NA 2
    rs1449231301,2
    C--8179155(+) AAAAAG/TACTCA 3 -- us2k10--------
    rs1137616491,2
    C,F--8179251(+) GGCAAG/AGTAAG 3 -- us2k11Minor allele frequency- A:0.03NA 120

    HapMap Linkage Disequilibrium report for RANGRF (8191815 - 8193410 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RANGRF:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833353CNV Loss17160897
    nsv907661CNV Gain21882294


    Human Gene Mutation Database (HGMD): RANGRF
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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: 607954    OMIM disorders: --

    2 diseases for RANGRF:    About MalaCards
    brugada syndrome    

    1 disease from the University of Copenhagen DISEASES database for RANGRF:
    Brugada syndrome

    RANGRF for disorders           About GeneDecksing


    Export disorders for RANGRF 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 RANGRF gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with RANGRF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of the human MOG1 gene. (PubMed id 11290418)1, 2, 3 Marfatia K.A.... Corbett A.H. (2001)
    2. Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav1.5. (PubMed id 18184654)1, 2 Wu L....Wang Q.K. (2008)
    3. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. MOG1: a new susceptibility gene for Brugada syndrome. (PubMed id 21447824)1 Kattygnarath D....Guicheney P. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. A novel nonsense variant in Nav1.5 cofactor MOG1 elim inates its sodium current increasing effect and may increase the risk of arrhyt hmias. (PubMed id 21621375)1 Olesen M.S....Svendsen J.H. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 29098 HGNC: 17679 AceView: RANGNRF Ensembl:ENSG00000108961 euGenes: HUgn29098
    ECgene: RANGRF H-InvDB: RANGRF

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

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    Patent Information for RANGRF gene:
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