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

RANGAP1 Gene

protein-coding   GIFtS: 65
GCID: GC22M041641

Ran GTPase activating protein 1

(Previous name: segregation distorter homolog (Drosophila) )
(Previous symbol: SD)
 Explore 1 disease affiliated with
RANGAP1 via our new
 Human Malady Compendium 
Biological research products
for RANGAP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ran GTPase Activating Protein 11 2     Ran GTPase-Activating Protein 12
SD1 2 3     Segregation Distorter Homolog2
Fug11 2     Segregation Distortion2
KIAA18351 3     RanGAP13
Segregation Distorter Homolog (Drosophila)1     

External Ids:    HGNC: 98541   Entrez Gene: 59052   Ensembl: ENSG000001004017   OMIM: 6023625   UniProtKB: P460603   

Export aliases for RANGAP1 gene to outside databases

Previous GC identifers: GC22M038256 GC22M039884 GC22M039966 GC22M024606


(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 RANGAP1:
RanGAP1, is a homodimeric 65-kD polypeptide that specifically induces the GTPase activity of RAN, but not of RAS by
over 1,000-fold. RanGAP1 is the immediate antagonist of RCC1, a regulator molecule that keeps RAN in the active,
GTP-bound state. The RANGAP1 gene encodes a 587-amino acid polypeptide. The sequence is unrelated to that of GTPase
activators for other RAS-related proteins, but is 88% identical to Fug1, the murine homolog of yeast Rna1p. RanGAP1
and RCC1 control RAN-dependent transport between the nucleus and cytoplasm. RanGAP1 is a key regulator of the RAN
GTP/GDP cycle. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: RAGP1_HUMAN, P46060
Function: GTPase activator for the nuclear Ras-related regulatory protein Ran, converting it to the putatively inactive
GDP-bound state

Gene Wiki entry for RANGAP1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RANGAP1 gene promoter:
         AhR   CREB   p53   AP-1   deltaCREB   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRANGAP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RANGAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RANGAP1


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

Entrez Gene cytogenetic band: 22q13   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13

RANGAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RANGAP1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M041641:  view genomic region     (about GC identifiers)

Start:
41,641,615 bp from pter      End:
41,698,963 bp from pter
Size:
57,349 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RAGP1_HUMAN, P46060 (See protein sequence)
Recommended Name: Ran GTPase-activating protein 1  
Size: 587 amino acids; 63542 Da
Subunit: Homodimer. Forms a tight complex in association with RANBP2/NUP358 and UBE2I/UBC9, the ubiquitin-conjugating
enzyme E2. Interacts with UBE2I; the interaction conjugates SUMO1 to RANGAP1, and subsequently stabilizes interactions
of sumoylated RANGAP1 with RANBP2/NUP358. The SUMO1/RANGAP1/UBC9/NUP358 complex associates with nuclear pore
complexes. Interacts with TRAF6
Subcellular location: Cytoplasm. Nucleus membrane; Peripheral membrane protein; Cytoplasmic side. Chromosome,
centromere, kinetochore (By similarity). Cytoplasm, cytoskeleton, spindle pole (By similarity). Note=Cytoplasmic
during interphase. Targeted to the nuclear rim after sumoylation. During mitosis, associates with mitotic spindles.
Association with kinetochores appears soon after nuclear envelope breakdown and persists until late anaphase. Mitotic
location also requires sumoylation
Sequence caution: Sequence=BAB47464.1; Type=Erroneous initiation;
6/12 PDB 3D structures from and Proteopedia for RANGAP1 (see all 12):
1Z5S (3D)        2GRN (3D)        2GRO (3D)        2GRP (3D)        2GRQ (3D)        2GRR (3D)    
Secondary accessions: Q96JJ2

Explore the universe of human proteins at neXtProt for RANGAP1: NX_P46060

Post-translational modifications:

  • Phosphorylated occurs before nuclear envelope breakdown and continues throughout mitosis. Phosphorylated by the M-phase
  • kinase cyclin B/Cdk1, in vitro. Differential timimg of dephosphorylation occurs during phases of mitosis. The
    phosphorylated form remains associated with RANBP2/NUP358 and the SUMO E2-conjugating enzyme, UBC9, on nuclear pore
    complex (NPC) diassembly and during mitosis1
  • Sumoylated with SUMO1. Sumoylation is necessary for targeting to the nuclear envelope (NE), and for association with
  • mitotic spindles and kinetochores during mitosis. Also required for interaction with RANBP2 and is mediated by UBC91
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P46060

  • RANGAP1 Protein expression data from MOPED and PaxDb:    About this image 
    RANGAP1 Protein Expression
    REFSEQ proteins: NP_002874.1  
    ENSEMBL proteins: 
     ENSP00000385866   ENSP00000348577   ENSP00000385086   ENSP00000401470   ENSP00000393407  
     ENSP00000394787   ENSP00000408743   ENSP00000404842   ENSP00000385354  
    Reactome Protein details: P46060
    Human Recombinant Protein Products for RANGAP1: 
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    Novus Biologicals RANGAP1 Protein
    Novus Biologicals RANGAP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RANGAP1

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776colocalizes with kinetochore IDA17363900
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0000922spindle pole IEA--
    GO:0005625soluble fraction ----
    GO:0005643nuclear pore TAS8978815

    RANGAP1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RANGAP1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR027038 RanGap
     IPR009109 Ran_GTPase_activating_1_C

    Graphical View of Domain Structure for InterPro Entry P46060

    ProtoNet protein and cluster: P46060

    1 Blocks protein family: IPB001611 Leucine-rich repeat signature

    UniProtKB/Swiss-Prot: RAGP1_HUMAN, P46060
    Similarity: Belongs to the RNA1 family
    Similarity: Contains 6 LRR (leucine-rich) repeats


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAGP1_HUMAN, P46060
    Function: GTPase activator for the nuclear Ras-related regulatory protein Ran, converting it to the putatively inactive
    GDP-bound state

         Genatlas biochemistry entry for RANGAP1:
    Ran GTPase activating protein 1,homolog of yeast Rna1p,component of the nuclear pore complex,highly concentrated at its
    cytoplasmic periphery,conjugating with UBL1 in a ATP dependent fashion,then associating with RANBP2. Involved in mRNA
    processing and transport

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005098Ran GTPase activator activity IEA--
    GO:0005515protein binding IPI17000644
         
    RANGAP1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rangap1):
     embryogenesis  growth/size  mortality/aging 

    RANGAP1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RANGAP1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidRANGAP1 3' UTR sequence
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RANGAP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1M Phase
    M Phase1.00
    Mitotic Anaphase0.85
    Mitotic M-M/G1 phases0.88
    Separation of Sister Chromatids0.80
    Mitotic Metaphase and Anaphase0.85
    2Resolution of Sister Chromatid Cohesion
    Resolution of Sister Chromatid Cohesion1.00
    Mitotic Prometaphase0.93
    Kinetochore assembly0.96
    3Proteolysis Putative SUMO-1 pathway
    Proteolysis Putative SUMO-1 pathway1.00
    Proteolysis_Putative SUMO-1 pathway0.97
    4Cell Cycle
    Cell Cycle1.00
    Cell Cycle, Mitotic0.84
    5Ran Pathway
    Ran Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for RANGAP1
        Proteolysis Putative SUMO-1 pathway

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RANGAP1
        Ran Pathway
    SUMO Pathway

    1 GeneGo (Thomson Reuters) Pathway for RANGAP1
        Proteolysis Putative SUMO-1 pathway

    3 BioSystems Pathways for RANGAP1 
        Signaling events mediated by HDAC Class II
    Sumoylation by RanBP2 regulates transcriptional repression
    Signaling events mediated by HDAC Class I

    5/10        Reactome Pathways for RANGAP1 (see all 10)
        Mitotic Metaphase and Anaphase
    Mitotic Prometaphase
    Resolution of Sister Chromatid Cohesion
    Mitotic Anaphase
    Cell Cycle


    1         Kegg Pathway  (Kegg details for RANGAP1):
        RNA transport


    RANGAP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RANGAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/866 Interacting proteins for RANGAP1 (P460601, 2, 3 ENSP000003485774) via UniProtKB, MINT, STRING, and/or I2D (see all 866)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GCN1L1Q926162, 3, ENSP000003006484MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000300648
    HIRAP541982, 3, ENSP000002632084MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000263208
    UBE2IP632792, 3, ENSP000003248974MINT-3380689 I2D: score=6 STRING: ENSP00000324897
    BABAM1Q9NWV82, 3, ENSP000003524084MINT-7945693 I2D: score=2 STRING: ENSP00000352408
    EEF1A1P681042, 3MINT-7945693 MINT-7947479 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000087M phase of mitotic cell cycle TAS--
    GO:0000236mitotic prometaphase TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0007165signal transduction IEA--
    GO:0032853positive regulation of Ran GTPase activity TAS7878053

    RANGAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RANGAP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RANGAP1
    2 Novoseek chemical compound relationships for RANGAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 63.9 12 10473610 (2), 7744835 (1), 10322113 (1), 8146159 (1) (see all 8)
    lysine 24.3 1 9442102 (1)

    Search CenterWatch for drugs/clinical trials and news about RANGAP1 / RAGP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RANGAP1 gene: 
    NM_002883.2  

    Unigene Cluster for RANGAP1:

    Ran GTPase activating protein 1
    Hs.183800  [show with all ESTs]
    Unigene Representative Sequence: BC041396
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000405486(uc003azt.3) ENST00000356244(uc011aoz.2 uc003azu.3)
    ENST00000405383 ENST00000455915(uc003azs.3) ENST00000493783 ENST00000446258
    ENST00000452543 ENST00000418067 ENST00000422838 ENST00000407260

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    hsa-miR-3611 hsa-miR-3153 hsa-miR-646
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    Additional cDNA sequence: 

    AK302222.1 AK303524.1 BC004990.1 BC014044.2 BC019676.1 BC041396.2 BC048990.1 CR456557.1 
    X82260.1 

    24/36 DOTS entries (see all 36):

    DT.100647773  DT.449648  DT.95154111  DT.100852871  DT.100647772  DT.100645443  DT.92451019  DT.100647777 
    DT.100709463  DT.100711353  DT.100768599  DT.92451021  DT.95272271  DT.100647775  DT.100839566  DT.100859349 
    DT.75170405  DT.100038346  DT.100637492  DT.100854577  DT.100864211  DT.92451015  DT.95272269  DT.100800164 

    24/323 AceView cDNA sequences (see all 323):

    BU172653 BM559416 BQ000147 BM553409 H55068 CD722788 BM550690 BC004990 
    BM911800 CR595421 BU681186 BM810912 BQ061240 BQ217588 CR599804 BC012882 
    BM694126 BU182483 BU194287 CR456557 BM553423 BU172655 AA709404 BE729240 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for RANGAP1 (see all 12)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^
    SP1:                                      -     -     -     -     -     -     -                                                                                 
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                        -   
    SP4:                                      -     -           -     -     -     -                                                                                 
    SP5:                                      -     -           -           -     -                                                                                 

    ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b
    SP1:                                    
    SP2:  -                 -               
    SP3:  -                 -               
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for RANGAP1

    (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

    RANGAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTTCCCCTT
    RANGAP1 Expression
    About this image

    RANGAP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RANGAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RANGAP1

    SOURCE GeneReport for Unigene cluster: Hs.183800

    UniProtKB/Swiss-Prot: RAGP1_HUMAN, P46060
    Tissue specificity: Highly expressed in brain, thymus and testis

        SABiosciences Expression via Pathway-Focused PCR Array including RANGAP1: 
              Multiple Sclerosis 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 eukaryotes.

    Orthologs for RANGAP1 gene from 10/32 species (see all 32)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rangap11 , 5 RAN GTPase activating protein 11, 5 86.09(n)1
    89.1(a)1
      15 (38.21 cM)5
    193871  NM_001146174.11  NP_001139646.11 
     817042485 
    chicken
    (Gallus gallus)
    Aves RANGAP11 Ran GTPase activating protein 1 75.46(n)
    82.24(a)
      417997  NM_001006237.1  NP_001006237.1 
    lizard
    (Anolis carolinensis)
    Reptilia RANGAP16
    --
    77(a)
    1 ↔ 1
    5(26276662-26293320)
    African clawed frog
    (Xenopus laevis)
    Amphibia rangap1-prov2 RAN GTPase activating protein 1 75.33(n)    BC043982.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.265582 Danio rerio cDNA clone MGC66165 IMAGE5600717, complete more 73.92(n)    BC054654.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RanGap1 Ran GTPase activating protein 53.65(n)
    42.29(a)
      35223  NM_057364.3  NP_476712.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ran-23 RNA production/processing 51(a)     --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RNA1(YMR235C)4
    RNA11
    GTPase activating protein (GAP) for Gsp1p, involved more4
    Rna1p1
    45.65(n)1
    33.61(a)1
      13(742735-741512)4
    8552751, 4  NP_013962.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G060006
    ATRANGAP16
    (see all 3)
    RAN GTPase-activating protein 1
    (see all 3)
    24(a)
    20(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    3(1801446-1802081)
    3(23324609-23326973)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    ran GTPase activating protein, putative
    RAN GTPase-activating protein 1, putative, express...
    25(a)
    19(a)
    many → 1
    many → 1
    5(19918983-19919933)
    5(26895864-26898860)


    ENSEMBL Gene Tree for RANGAP1 (if available)
    TreeFam Gene Tree for RANGAP1 (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, UniProtKB, 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

    10/776 NCBI SNPs in RANGAP1 are shown (see all 776    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs60022961,2
    --41641170(+) ACCTAC/TGTGGC 1 -- ds50010--------
    rs96373391,2
    H--41641282(+) GGGTAG/AGAGGT 1 -- ds50014Minor allele frequency- A:0.00NS EA 420
    rs1179836671,2
    --41641311(+) TGTCCT/GCACAT 1 -- ds50011Minor allele frequency- G:0.01NA 120
    rs60022981,2
    C,F,H--41641570(+) TACAAC/TGGCCC 1 -- ds500125Minor allele frequency- T:0.08NS EA NA WA CSA 2552
    rs1831742091,2
    --41641649(+) GCCCCC/TGGGCA 1 -- ut310--------
    rs1468954531,2
    --41641672(+) ACACAC/GAGCAC 1 -- ut310--------
    rs1878599211,2
    --41641703(+) GTCACA/GGGTGC 1 -- ut310--------
    rs119136891,2
    H--41641751(+) TACCGC/GTCCCC 1 -- ut31 ese30--------
    rs577124731,2
    --41641784(+) GCAGCA/GTCCAG 1 -- ut310--------
    rs738857531,2
    C,F--41641924(+) GGTCCG/AGGGCC 1 -- ut313Minor allele frequency- A:0.18WA 122

    HapMap Linkage Disequilibrium report for RANGAP1 (41641615 - 41698963 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for RANGAP1
         5 CNVs: 5188 50867 36032 9849 50866

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RANGAP1 for disorders           About GeneDecksing

    OMIM gene information: 602362    OMIM disorders: --

    1 disease for RANGAP1:    About MalaCards
    herpes simplex


    Export disorders for RANGAP1 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 RANGAP1 gene, integrated from 9 sources (see all 117):
    (articles sorted by number of sources associating them with RANGAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human RanGTPase-activating protein RanGAP1 is a homologue of yeast Rna1p involved in mRNA processing and transport. (PubMed id 7878053)1, 2, 3, 9 Bischoff F.R.... Ponstingl H. (1995)
    2. Ubiquitous expression and testis-specific alternative polyadenylation of mRNA for the human Ran GTPase activator RanGAP1. (PubMed id 8973340)1, 2, 9 Krebber H. and Ponstingl H. (1996)
    3. Insights into E3 ligase activity revealed by a SUMO-RanGAP1-Ubc9- Nup358 complex. (PubMed id 15931224)1, 2, 9 Reverter D. and Lima C.D. (2005)
    4. Nuclear tumor necrosis factor receptor-associated factor 6 in lymphoid cells negatively regulates c-Myb-mediated transactivation through small ubiquitin-related modifier-1 modification. (PubMed id 18093978)1, 2 Pham L.V....Ford R.J. (2008)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    7. 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)
    8. SUMO-1 targets RanGAP1 to kinetochores and mitotic spindles. (PubMed id 11854305)1, 2 Joseph J.... Dasso M. (2002)
    9. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (2001)
    10. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5905 HGNC: 9854 AceView: RANGAP1 Ensembl:ENSG00000100401 euGenes: HUgn5905
    ECgene: RANGAP1 Kegg: 5905 H-InvDB: RANGAP1

    (According to HUGE)
    About This Section
    HUGE: KIAA1835

    (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 RANGAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RANGAP1 gene:
    Search GeneIP for patents involving RANGAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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