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

RABGGTB Gene

protein-coding   GIFtS: 57
GCID: GC01P076251

Rab Geranylgeranyltransferase, Beta Subunit

  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
Rab Geranylgeranyltransferase, Beta Subunit1 2     EC 2.5.1.603 8
Rab GG Transferase Beta2 3     Geranylgeranyl Transferase Type-2 Subunit Beta2
Rab GGTase Beta2 3     Geranylgeranyl Transferase Type II Subunit Beta3
Type II Protein Geranyl-Geranyltransferase Subunit Beta2 3     Rab Geranyl-Geranyltransferase Subunit Beta3
GGTB2 3     Rab Geranylgeranyltransferase Subunit Beta3
GGTase-II-beta2 3     

External Ids:    HGNC: 97961   Entrez Gene: 58762   Ensembl: ENSG000001379557   OMIM: 1790805   UniProtKB: P536113   

Export aliases for RABGGTB gene to outside databases

Previous GC identifers: GC01P076371 GC01P075186 GC01P075667 GC01P075674 GC01P075963 GC01P076024 GC01P074381


(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 RABGGTB Gene:
This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the
protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to
C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions
of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated
with this gene is located on chromosome 3. (provided by RefSeq, Jan 2013)

GeneCards Summary for RABGGTB Gene: 
RABGGTB (Rab geranylgeranyltransferase, beta subunit) is a protein-coding gene. Diseases associated with RABGGTB include choroideremia, and retinal degeneration. GO annotations related to this gene include Rab geranylgeranyltransferase activity and metal ion binding. An important paralog of this gene is PGGT1B.

UniProtKB/Swiss-Prot: PGTB2_HUMAN, P53611
Function: Catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to both cysteines
in Rab proteins with an -XXCC, -XCXC and -CCXX C-terminal, such as RAB1A, RAB3A and RAB5A respectively




(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_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RABGGTB gene promoter:
         AP-4   E4BP4   Evi-1   C/EBPalpha   POU2F1   GATA-6   POU2F1a   FOXJ2 (long isoform)   FOXJ2   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RABGGTB promoter sequence
   Search SABiosciences Chromatin IP Primers for RABGGTB

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


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

Entrez Gene cytogenetic band: 1p31   Ensembl cytogenetic band:  1p31.1   HGNC cytogenetic band: 1p31

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P076251:  view genomic region     (about GC identifiers)

Start:
76,251,879 bp from pter      End:
76,260,764 bp from pter
Size:
8,886 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: PGTB2_HUMAN, P53611 (See protein sequence)
Recommended Name: Geranylgeranyl transferase type-2 subunit beta  
Size: 331 amino acids; 36924 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Heterodimer of an alpha and a beta subunit, collectively called component B. The Rab GGTase dimer (RGGT)
can associate with CHM (component A) prior to Rab protein binding; the association is stabilized by
geranylgeranyl pyrophosphate (GGpp). The CHM:RGGT:Rab complex is destabilized by GGpp. Interaction of beta
subunit with prenylated PTP4A2 precludes its association with subunit alpha, and inhibits enzyme activity
Secondary accessions: Q92697

Explore the universe of human proteins at neXtProt for RABGGTB: NX_P53611

Explore proteomics data for RABGGTB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P53611

  • 4/6 DME Specific Peptides for RABGGTB (P53611) (see all 6)
     NFDGGFG  ESHAGQI  TLSAVQIL  DVCYSWWVL 

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

    RABGGTB Protein Expression
    REFSEQ proteins: NP_004573.2  
    ENSEMBL proteins: 
     ENSP00000317473   ENSP00000359862   ENSP00000440452  

    Human Recombinant Protein Products for RABGGTB: 
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    Novus Biologicals RABGGTB Protein
    Novus Biologicals RABGGTB Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 


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    Browse Enzo Life Sciences for kits & assays
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR026873 Ptb1
     IPR008930 Terpenoid_cyclase/PrenylTrfase
     IPR001330 Prenyltrans

    Graphical View of Domain Structure for InterPro Entry P53611

    ProtoNet protein and cluster: P53611

    1 Blocks protein domain: IPB001330 Prenyltransferase/squalene oxidase

    UniProtKB/Swiss-Prot: PGTB2_HUMAN, P53611
    Similarity: Belongs to the protein prenyltransferase subunit beta family
    Similarity: Contains 6 PFTB repeats


    RABGGTB 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: PGTB2_HUMAN, P53611
    Function: Catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to both cysteines
    in Rab proteins with an -XXCC, -XCXC and -CCXX C-terminal, such as RAB1A, RAB3A and RAB5A respectively
    Catalytic activity: Geranylgeranyl diphosphate + protein-cysteine = S-geranylgeranyl-protein + diphosphate
    Enzyme regulation: The enzymatic reaction requires the aid of a Rab escort protein (also called component A)

         Genatlas biochemistry entry for RABGGTB:
    Rab geranyl-geranyltransferase B,type II,beta subunit

         Enzyme Number (IUBMB): EC 2.5.1.601 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004663Rab geranylgeranyltransferase activity IEA--
    GO:0005515protein binding IPI12620389
    GO:0046872metal ion binding IEA--
         
    RABGGTB for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RABGGTB:
     Synthetic lethal with c-Myc af 

         1 MGI phenotypic allele for Rabggtb (no phenotypes)

    RABGGTB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rabggtbtm1Lex for RABGGTB

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RABGGTB 
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    hsa-miR-3671 hsa-miR-32* hsa-miR-3924
    SwitchGear 3'UTR luciferase reporter plasmidRABGGTB 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RABGGTB


    (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

    SuperPaths for RABGGTB About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signaling events mediated by PRL
    Signaling events mediated by PRL


    1 BioSystems Pathway for RABGGTB
        Signaling events mediated by PRL


    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/40 Interacting proteins for RABGGTB (P536111, 2, 3 ENSP000003174734) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARAFP103981, 2, 3, ENSP000003662444EBI-536715,EBI-365961 MINT-19316 I2D: score=6 STRING: ENSP00000366244
    RABGGTAQ926963, ENSP000002168404I2D: score=6 STRING: ENSP00000216840
    CHMLP263743, ENSP000003555114I2D: score=1 STRING: ENSP00000355511
    RAB3AP203363, ENSP000002222564I2D: score=2 STRING: ENSP00000222256
    ALAS2P225573, ENSP000003323694I2D: score=2 STRING: ENSP00000332369
    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:0006464cellular protein modification process NAS8380507
    GO:0007601visual perception TAS8380507
    GO:0018344protein geranylgeranylation ----

    RABGGTB 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
    EMD Millipore small molecules for RABGGTB:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RABGGTB (PGTB2)

    4 DrugBank Compounds for RABGGTB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    FARNESYL-- --target--10592235
    FARNESYL DIPHOSPHATE-- --target--10592235
    GERANYLGERANYL DIPHOSPHATE-- --target--10592235
    N-Formylmethionine-- --target--10592235

    Search CenterWatch for drugs/clinical trials and news about RABGGTB / PGTB2

    (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 RABGGTB gene: 
    NM_004582.3  

    Unigene Cluster for RABGGTB:

    Rab geranylgeranyltransferase, beta subunit
    Hs.78948  [show with all ESTs]
    Unigene Representative Sequence: BC035873
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496055 ENST00000319942(uc001dgy.1 uc009wbt.1 uc001dhc.1)
    ENST00000473406 ENST00000485459 ENST00000370826 ENST00000497648 ENST00000462042
    ENST00000470201 ENST00000471759 ENST00000491266 ENST00000461653 ENST00000489450
    ENST00000467748 ENST00000459697 ENST00000535300
    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate RABGGTB:
    hsa-miR-3671 hsa-miR-32* hsa-miR-3924
    SwitchGear 3'UTR luciferase reporter plasmidRABGGTB 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RABGGTB
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RABGGTB

    Additional mRNA sequence: 

    AK127197.1 AK293057.1 BC020790.1 BC035873.1 CR456941.1 NR_073562.1 U49245.1 X98001.1 
    Y08201.1 

    21 DOTS entries:

    DT.102832090  DT.449019  DT.101984375  DT.95208188  DT.92443127  DT.100029891  DT.102832089  DT.92443131 
    DT.97847166  DT.40121418  DT.100797567  DT.97847169  DT.100797568  DT.102832088  DT.91725981  DT.99992446 
    DT.100826150  DT.121438470  DT.92443137  DT.95331595  DT.97847167 

    24/344 AceView cDNA sequences (see all 344):

    AA937894 AL552269 AA427560 BM456849 AA767717 AA301476 BM471161 AW450168 
    BU947583 NM_004582 BU622347 AI684274 BG654773 AA370925 AA954129 F05836 
    AI139277 BM555052 AI306733 BE349463 BM668770 AI335009 CR594245 BU173772 

    GeneLoc Exon Structure

    5/23 Alternative Splicing Database (ASD) splice patterns (SP) for RABGGTB (see all 23)    About this scheme

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

    ExUns: 10c · 10d · 10e ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13a · 13b · 13c · 13d
    SP1:        -     -                             -                                 
    SP2:        -     -                             -                                 
    SP3:        -     -                                                               
    SP4:                                                                              
    SP5:        -     -                             -                                 


    ECgene alternative splicing isoforms for RABGGTB

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.78948
        SABiosciences Custom PCR Arrays for RABGGTB
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RABGGTB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RABGGTB

    (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 RABGGTB gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rabggtb1 , 5 RAB geranylgeranyl transferase, b subunit1, 5 86.61(n)1
    96.07(a)1
      3 (78.76 cM)5
    193521  NM_001163478.11  NP_001156950.11 
     1539072895 
    chicken
    (Gallus gallus)
    Aves RABGGTB1 Rab geranylgeranyltransferase, beta subunit 80.56(n)
    91.24(a)
      424723  XM_422548.3  XP_422548.2 
    lizard
    (Anolis carolinensis)
    Reptilia RABGGTB6
    Uncharacterized protein
    89(a)
    1 ↔ 1
    GL343194.1(3342089-3350409)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.48482 Transcribed sequence with moderate similarity to protein more 80.45(n)    142026521 
    zebrafish
    (Danio rerio)
    Actinopterygii BC049442.12   -- 75.77(n)    BC049442.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta &bgr;ggt-II3
    betaggt-II1
    CAAX-protein geranylgeranyltransferase3
    beta subunit of type II geranylgeranyl transferase1
    64(a)3
    58.14(n)1
    65.05(a)1
      23B73
    477571  NM_080155.21  NP_524894.11 
    worm
    (Caenorhabditis elegans)
    Secernentea B0280.1b3
    ggtb-11
    Protein GGTB-11 55(a)
    (best of 2)3
    57.7(n)1
    55.7(a)1
      III(7205630-7207637)3
    1759981  NM_066158.51  NP_498559.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BET2(YPR176C)4
    BET21
    Beta subunit of Type II geranylgeranyltransferase required more4
    Bet2p1
    55.52(n)1
    53.38(a)1
      16(892078-891101)4
    8563061, 4  NP_015502.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RGTB11 RAB geranylgeranyl transferase beta subunit 1 59.15(n)
    58.5(a)
      831094  NM_121259.3  NP_568259.1 
    rice
    (Oryza sativa)
    Liliopsida AK102273.12   -- 75.97(n)    AK102273.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RABGGTB gene
    PGGT1B2  

    RABGGTB for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for RABGGTB
    PGOHUM00000238134 PGOHUM00000259864


    (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

    10/172 SNPs in RABGGTB are shown (see all 172)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1859982221,2
    C--76249879(+) ACACCA/GCATAT 2 -- us2k10--------
    rs1476718031,2
    --76249979(+) AGGGGA/GGAAGG 2 -- us2k10--------
    rs1903737811,2
    --76250030(+) TGGGTA/GCAGCA 2 -- us2k10--------
    rs1406869761,2
    --76250041(+) ATCCAA/GCCTGG 2 -- us2k10--------
    rs11466301,2
    C,F,A,H--76250073(-) acgtgC/Taggtt 2 -- us2k16Minor allele frequency- T:0.33NA WA CSA 12
    rs1479662891,2
    --76250088(+) CACATA/GTACCC 2 -- us2k10--------
    rs1406005401,2
    C--76250108(+) CAGTAC/TAATTT 2 -- us2k10--------
    rs1382716321,2
    --76250110(+) GTATAA/CTTTTT 2 -- us2k10--------
    rs2008626141,2
    C--76250195(-) CACCCC/TCNNNN 2 -- us2k10--------
    rs793974991,2
    F--76250497(+) CACAGC/TTCAAG 2 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for RABGGTB (76251879 - 76260764 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RABGGTB:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv519329CNV Gain19592680

    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: 179080    OMIM disorders: --

    6 diseases for RABGGTB:    About MalaCards
    choroideremia    retinal degeneration    choroiditis    retinitis
    colorectal cancer    melanoma


    RABGGTB for disorders           About GeneDecksing

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

    Export disorders for RABGGTB 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 RABGGTB gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with RABGGTB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and chromosomal localization of the genes encoding the alpha- and beta-subunits of human Rab geranylgeranyl transferase: the 3' end of the alpha-subunit gene overlaps with the transglutaminase 1 gene promoter. (PubMed id 8954794)1, 2, 3 van Bokhoven H....Seabra M.C. (1996)
    2. Characterization of the interaction of the monomeric GTP-binding protein Rab3a with geranylgeranyl transferase II. (PubMed id 8706741)1, 2, 3 Johannes L.... Darchen F. (1996)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    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. Interaction of farnesylated PRL-2, a protein-tyrosine phosphatase, with the beta-subunit of geranylgeranyltransferase II. (PubMed id 11447212)1, 2 Si X.... Pallen C.J. (2001)
    6. Rab geranylgeranyl transferase catalyzes the geranylgeranylation of adjacent cysteines in the small GTPases Rab1A, Rab3A, and Rab5A. (PubMed id 7991565)1, 2 Farnsworth C.C.... Glomset J.A. (1994)
    7. 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)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (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: 5876 HGNC: 9796 AceView: RABGGTB Ensembl:ENSG00000137955 euGenes: HUgn5876
    ECgene: RABGGTB H-InvDB: RABGGTB

    (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 RABGGTB Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Rab_geranylgeranyltransferase

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

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



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    About This Section

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