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RABGEF1 Gene

protein-coding   GIFtS: 56
GCID: GC07P066148

RAB Guanine Nucleotide Exchange Factor (GEF) 1

  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)
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Aliases
RAB Guanine Nucleotide Exchange Factor (GEF) 11 2     Rab5 GDP/GTP Exchange Factor2
RABEX52 3 5     rabex-52
Rabaptin-5-Associated Exchange Factor For Rab52 3     Rabex-53
RAP12 3     

External Ids:    HGNC: 176761   Entrez Gene: 273422   Ensembl: ENSG000001547107   OMIM: 6097005   UniProtKB: Q9UJ413   

Export aliases for RABGEF1 gene to outside databases

Previous GC identifers: GC07P065544 GC07P065617 GC07P065649 GC07P065732 GC07P065843 GC07P066094 GC07P066205 GC07P062390


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RABGEF1 Gene:
RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and
it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al.,
1997 (PubMed 9323142)).(supplied by OMIM, Mar 2010)

GeneCards Summary for RABGEF1 Gene:
RABGEF1 (RAB guanine nucleotide exchange factor (GEF) 1) is a protein-coding gene. Diseases associated with RABGEF1 include breast cancer, and malaria. GO annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is GAPVD1.

UniProtKB/Swiss-Prot: RABX5_HUMAN, Q9UJ41
Function: Rab effector protein acting as linker between gamma-adaptin, RAB4A or RAB5A. Involved in endocytic
membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act
as a ubiquitin ligase (By similarity)

Gene Wiki entry for RABGEF1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the RABGEF1 gene promoter:
         ER-alpha   HSF1 (long)   MyoD   CUTL1   MIF-1   C/EBPalpha   HEN1   HFH-1   HSF1short   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): RABGEF1 promoter sequence
   Search Chromatin IP Primers for RABGEF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RABGEF1


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

Entrez Gene cytogenetic band: 7q11.21   Ensembl cytogenetic band:  7q11.21   HGNC cytogenetic band: 7q11.21

RABGEF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RABGEF1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P066148:  view genomic region     (about GC identifiers)

Start:
66,147,151 bp from pter      End:
66,276,451 bp from pter
Size:
129,301 bases      Orientation:
plus strand

2 alternative locations:
Chr7+ 66,093,868-66,276,446      Chr7+,CRA_TCAG 65,543,205-65,614,013     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RABX5_HUMAN, Q9UJ41 (See protein sequence)
Recommended Name: Rab5 GDP/GTP exchange factor  
Size: 708 amino acids; 79371 Da
Subunit: Interacts with RGS14; the interaction is GTP-dependent (By similarity). Heterodimer with RABEP1. The
heterodimer binds RAB4A and RAB5A that have been activated by GTP-binding. Interacts with RAB21, and with
100-fold lower affinity also with RAB22. Binds TSC2, GGA1, GGA2, GGA3, AP1G1 and AP1G2. Interacts with
ubiquitinated EGFR
4 PDB 3D structures from and Proteopedia for RABGEF1:
1TXU (3D)        2C7M (3D)        2C7N (3D)        2OT3 (3D)    
Secondary accessions: Q3HKR2 Q3HKR3 Q53FG0
Alternative splicing: 3 isoforms:  Q9UJ41-1   Q9UJ41-2   Q9UJ41-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RABGEF1: NX_Q9UJ41

Explore proteomics data for RABGEF1 at MOPED

Post-translational modifications: 

  • Monoubiquitinated1
  • Ubiquitination2 at Lys263, Lys281, Lys299, Lys318, Lys325, Lys329, Lys348, Lys423, Lys520, Lys629
  • Modification sites at PhosphoSitePlus

  • See RABGEF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001273989.1  NP_001273990.1  NP_001273991.1  NP_055319.1  

    ENSEMBL proteins: 
     ENSP00000476796   ENSP00000415503   ENSP00000415815   ENSP00000284957   ENSP00000403429  
     ENSP00000390480  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR013995 VPS9_subgr
     IPR003123 VPS9
     IPR002653 Znf_A20

    Graphical View of Domain Structure for InterPro Entry Q9UJ41

    ProtoNet protein and cluster: Q9UJ41

    UniProtKB/Swiss-Prot: RABX5_HUMAN, Q9UJ41
    Similarity: Contains 1 A20-type zinc finger
    Similarity: Contains 1 VPS9 domain


    RABGEF1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RABX5_HUMAN, Q9UJ41
    Function: Rab effector protein acting as linker between gamma-adaptin, RAB4A or RAB5A. Involved in endocytic
    membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act
    as a ubiquitin ligase (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI16189514
    GO:0008270zinc ion binding IEA--
    GO:0017112Rab guanyl-nucleotide exchange factor activity IDA--
         
    RABGEF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RABGEF1:
     Increased circadian period len 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rabgef1):
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 

    RABGEF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RABGEF1: Rabgef1tm2Glli Rabgef1tm1Glli

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    hsa-miR-579 hsa-miR-3916 hsa-miR-9 hsa-miR-23a hsa-miR-3148 hsa-miR-497* hsa-miR-181b hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidRABGEF1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RABX5_HUMAN, Q9UJ41: Cytoplasm. Early endosome. Recycling endosome

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005769early endosome IEA--
    GO:0055037recycling endosome IEA--

    RABGEF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RABGEF1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    Transport Clathrin coated vesicle cycle0.66
    2Delta508 CFTR traffic Sorting endosome formation in CF
    Normal wtCFTR traffic Sorting endosome formation0.00
    Delta508 CFTR traffic Sorting endosome formation in CF
    3Lymphocyte Signaling
    Lymphocyte Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for RABGEF1
        Lymphocyte Signaling

    3 GeneGo (Thomson Reuters) Pathways for RABGEF1
        Normal wtCFTR traffic / Sorting endosome formation
    Delta508-CFTR traffic / Sorting endosome formation in CF
    Transport Clathrin-coated vesicle cycle




    RABGEF1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RABGEF1
    Interactions:

        GeneGlobe Interaction Network for RABGEF1

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

    Selected Interacting proteins for RABGEF1 (Q9UJ411, 2, 3 ENSP000002849574) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBBP0CG471, 3, ENSP000003046974EBI-913954,EBI-413034 I2D: score=2 STRING: ENSP00000304697
    RNF11Q9Y3C52, 3MINT-60856 I2D: score=3 
    KXD1Q9BQD31, 2, 3, ENSP000002223074EBI-913954,EBI-739657 MINT-67747 I2D: score=4 STRING: ENSP00000222307
    EGFRP005331, 3, ENSP000002754934EBI-913954,EBI-297353 I2D: score=1 STRING: ENSP00000275493
    YWHABP319462, 3, ENSP000003001614MINT-50957 I2D: score=4 STRING: ENSP00000300161
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IEA--
    GO:0015031protein transport IEA--
    GO:0032313regulation of Rab GTPase activity IDA--

    RABGEF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RABGEF1 (RABX5)

    1 HMDB Compound for RABGEF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    2 Novoseek inferred chemical compound relationships for RABGEF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 69 2 11419942 (2)
    gtp 48.8 2 17473071 (1), 11419942 (1)



    RABGEF1 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RABGEF1 gene (4 alternative transcripts): 
    NM_001287060.1  NM_001287061.1  NM_001287062.1  NM_014504.2  

    Unigene Cluster for RABGEF1:

    RAB guanine nucleotide exchange factor (GEF) 1
    Hs.530053  [show with all ESTs]
    Unigene Representative Sequence: NM_014504
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000607882 ENST00000442563 ENST00000450873 ENST00000284957 ENST00000439720
    ENST00000484547 ENST00000461017 ENST00000437078
    miRNA
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    hsa-miR-579 hsa-miR-3916 hsa-miR-9 hsa-miR-23a hsa-miR-3148 hsa-miR-497* hsa-miR-181b hsa-miR-3163
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      QuantiTect SYBR Green Assays in human, mouse, rat RABGEF1
      QuantiFast Probe-based Assays in human, mouse, rat RABGEF1

    Additional mRNA sequence: 

    AJ250042.1 AK001702.1 AK056864.1 AK223329.1 AK290678.1 AK303006.1 BC015330.1 BT007107.1 
    DQ230533.1 DQ230534.1 DQ230535.1 

    21 DOTS entries:

    DT.447451  DT.97811581  DT.97820243  DT.446296  DT.95274105  DT.95274104  DT.102840124  DT.103852 
    DT.121063296  DT.91701387  DT.99933786  DT.100780554  DT.121063372  DT.91755396  DT.95193032  DT.95364850 
    DT.100788664  DT.40279192  DT.40316869  DT.95333312  DT.97772695 

    Selected AceView cDNA sequences (see all 329):

    BU078708 CD366530 BM310029 BX505028 AV725251 AA427680 AW089014 AI948657 
    CB164579 BU183774 AI017520 AA873582 AA485806 AI890903 R81368 BM721712 
    CA437871 AA419577 BU146705 AI770109 CA431207 AI597889 BU902852 BU101729 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RABGEF1 (see all 13)    About this scheme

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

    ExUns: 12b ^ 13 ^ 14 ^ 15a · 15b · 15c
    SP1:              -                     
    SP2:              -                     
    SP3:              -                     
    SP4:                                    
    SP5:              -                     


    ECgene alternative splicing isoforms for RABGEF1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RABGEF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCCCAGG
    RABGEF1 Expression
    About this image


    RABGEF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    RABGEF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RABGEF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.530053
        Custom PCR Arrays for RABGEF1
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    In Situ
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RABGEF1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rabgef11 , 5 RAB guanine nucleotide exchange factor (GEF) 11, 5 88.53(n)1
    95.72(a)1
      5 (68.78 cM)5
    567151  NM_001199059.11  NP_001185988.11 
     1301717985 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    89(a)
    1 → many
    19(5039468-5052385) ENSGALG00000021611
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ636051.12   -- 78.08(n)    BJ636051.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc659442 RAB guanine nucleotide exchange factor (GEF) 1 78.11(n)   393816  BC061953.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rabex-51 Rabex-5 48.37(n)
    35.78(a)
      38144  NM_138249.3  NP_612093.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rabx-51 rabx-5 48.83(n)
    37.54(a)
      176481  NM_066936.4  NP_499337.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS96
    A guanine nucleotide exchange factor involved in v...
    19(a)
    1 → many
    XIII(78335-79690) YML097C
    rice
    (Oryza sativa)
    Liliopsida Os03g08427001 Os03g0842700 50.21(n)
    38.27(a)
      4334742  NM_001058393.1  NP_001051858.1 


    ENSEMBL Gene Tree for RABGEF1 (if available)
    TreeFam Gene Tree for RABGEF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RABGEF1 gene
    GAPVD12  KCTD72  
    7 SIMAP similar genes for RABGEF1 using alignment to 5 protein entries:     RABX5_HUMAN (see all proteins):
    KCTD7    OK/SW-cl.41    C12orf23    KIAA1651    CNOT2    GNPTAB
    ZFAND6

    RABGEF1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RABGEF1
    PGOHUM00000250871


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RABGEF1 (see all 1463)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs666899621,2
    C--62389659(+) AAAAA-/AAA   
       
    /AAAA
    TAGAC
    2 -- us2k1 cds11NA 2
    rs558774391,2
    C--66220281(+) GTCTC-/AAAAAA 1 -- int12Minor allele frequency- A:0.00NA CSA 4
    rs2013442651,2
    C--66229379(+) CAAAT-/GTTTTC 1 -- int10--------
    rs665598421,2
    C--66238070(+) TGTTT-/GTTTTT 1 -- int10--------
    rs665598441,2
    C,F--66238070(+) TGTTTG/TTTTTT 1 -- int12Minor allele frequency- T:0.50NA WA 4
    rs1386403991,2
    C--66250860(+) CATCT-/GGGGGG 1 -- int10--------
    rs356619801,2
    C--66254670(+) TCTCA-/A/AA  
            
    AAAAA
    1 -- int11NA 2
    rs47184061,2
    C,A,H--66262309(+) aaaaaA/Gagaga 1 -- int1 trp34Minor allele frequency- G:0.00WA NA 8
    rs3700011151,2
    C--66262309(+) AAAAA-/GAGAGA 1 -- int10--------
    rs1871431631,2
    --69682646(+) AAAGTA/CAGTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RABGEF1 (66147151 - 66276451 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for RABGEF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671700CNV Deletion23128226
    esv2734600CNV Deletion23290073
    nsv507396CNV Insertion20534489
    nsv5773CNV Insertion18451855
    nsv888329CNV Gain21882294
    nsv888328CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing RABGEF1
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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.)
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    OMIM gene information: 609700    OMIM disorders: --

    2 diseases for RABGEF1:    
    About MalaCards
    breast cancer    malaria


    RABGEF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RABGEF1
    Human Genome Epidemiology (HuGE) Navigator: RABGEF1 (1 document)

    Export disorders for RABGEF1 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)
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    PubMed articles for RABGEF1 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with RABGEF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5 complex. (PubMed id 12505986)1, 2, 3 Mattera R.... Bonifacino J.S. (EMBO J. 2003)
    2. Seven genes that are differentially transcribed in colorectal tumor cell lines. (PubMed id 11098082)1, 2, 3 Nimmrich I.... Mueller O. (Cancer Lett. 2000)
    3. Functional synergy between Rab5 effector Rabaptin-5 and exchange factor Rabex-5 when physically associated in a complex. (PubMed id 11452015)1, 2, 9 Lippe R.... Zerial M. (Mol. Biol. Cell 2001)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Structural basis for Rab GTPase activation by VPS9 domain exchange factors. (PubMed id 17450153)1, 2 Delprato A. and Lambright D.G. (Nat. Struct. Mol. Biol. 2007)
    6. Crystal structure of the ubiquitin binding domains of rabex-5 reveals two modes of interaction with ubiquitin. (PubMed id 16499958)1, 2 Penengo L.... Schneider T.R. (Cell 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Structure, exchange determinants, and family-wide rab specificity of the tandem helical bundle and Vps9 domains of Rabex-5. (PubMed id 15339665)1, 2 Delprato A.... Lambright D.G. (Cell 2004)
    9. 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. (Genome Res. 2004)
    10. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 27342 HGNC: 17676 AceView: KCTD7andLOC402538 Ensembl:ENSG00000154710 euGenes: HUgn27342
    ECgene: RABGEF1 H-InvDB: RABGEF1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RABGEF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for RABGEF1 gene:
    Search GeneIP for patents involving RABGEF1

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



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