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RABGGTB Gene

protein-coding   GIFtS: 60
GCID: GC01P076251

Rab Geranylgeranyltransferase, Beta Subunit

  See RABGGTB-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for RABGGTB gene to outside databases

Previous GC identifers: GC01P076371 GC01P075186 GC01P075667 GC01P075674 GC01P075963 GC01P076024 GC01P074381


(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 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. GO annotations related to this gene include Rab geranylgeranyltransferase activity. An important paralog of this gene is PGGT1B.

UniProtKB/Swiss-Prot: PGTB2_HUMAN, P53611
Function: Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of
Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A




(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 at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   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 Chromatin IP Primers for RABGGTB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: 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: Heterotrimer composed of RABGGTA, RABGGTB and CHM; within this trimer, RABGGTA and RABGGTB form the
catalytic component B, while CHM (component A) mediates peptide substrate binding. The Rab GGTase dimer (RGGT)
interacts 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 RABGGTB with prenylated
PTP4A2 precludes its association with RABGGTA 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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RABGGTB (P53611) (see all 6)
     NFDGGFG  ESHAGQI  TLSAVQIL  DVCYSWWVL 


    See RABGGTB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004573.2  
    ENSEMBL proteins: 
     ENSP00000317473   ENSP00000359862   ENSP00000440452  

    RABGGTB Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for RABGGTB 


    (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:
     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


    Find genes that share domains with RABGGTB           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PGTB2_HUMAN, P53611
    Function: Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of
    Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A
    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004663Rab geranylgeranyltransferase activity ISS--
    GO:0005515protein binding IPI12620389
    GO:0008270zinc ion binding ISS--
    GO:0017137Rab GTPase binding ISS--
         
    Find genes that share ontologies with RABGGTB           About GenesLikeMe


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

         1 MGI phenotypic allele for Rabggtb (no phenotypes)

    Find genes that share phenotypes with RABGGTB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rabggtbtm1Lex for RABGGTB

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    3 qRT-PCR 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
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton2
    peroxisome2
    cytosol1
    extracellular1
    golgi apparatus1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005968Rab-protein geranylgeranyltransferase complex ISS--

    Find genes that share ontologies with RABGGTB           About GenesLikeMe


    (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 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


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

        Search GeneGlobe Interaction Network for RABGGTB

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

    Selected Interacting proteins for RABGGTB (P536111, 2, 3 ENSP000003174734) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    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
    PTAR1Q7Z6K33, ENSP000004059434I2D: score=5 STRING: ENSP00000405943
    CHMLP263743, ENSP000003555114I2D: score=1 STRING: ENSP00000355511
    RAB3AP203363, ENSP000002222564I2D: score=2 STRING: ENSP00000222256
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process NAS8380507
    GO:0007601visual perception TAS8380507
    GO:0018344protein geranylgeranylation ISS--

    Find genes that share ontologies with RABGGTB           About GenesLikeMe



    (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 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



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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 qRT-PCR 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
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      QuantiTect SYBR Green Assays in human, mouse, rat RABGGTB
      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 

    Selected AceView cDNA sequences (see all 344):

    AK127197 AI306733 AA937894 BQ003690 CA390791 BM555052 BU751998 AL707762 
    BI755898 BM709893 BF511377 CB130720 BQ446510 R38066 AA767717 AI298550 
    BC020790 BE349463 AL702673 AL552269 AA427560 F13029 AA301476 BM471161 

    GeneLoc Exon Structure

    Selected 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™, 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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    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


    RABGGTB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Adrenal Gland (Endocrine System)
     
     Kidney (Urinary System)
     
     Stomach (Gastrointestinal Tract)
    RABGGTB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RABGGTB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.78948
        Custom PCR Arrays for RABGGTB
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RABGGTB gene from Selected species (see all 25)    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 80.46(n)
    91.24(a)
      424723  XM_422548.4  XP_422548.2 
    lizard
    (Anolis carolinensis)
    Reptilia RABGGTB6
    Rab geranylgeranyltransferase, beta subunit
    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_080155.31  NP_524894.11 
    worm
    (Caenorhabditis elegans)
    Secernentea B0280.1b3
    ggtb-11
    ggtb-11 55(a)
    (best of 2)3
    57.25(n)1
    54.97(a)1
      III(7205630-7207637)3
    1759981  NM_066158.61  NP_498559.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BET2(YPR176C)4
    BET21
    Beta subunit of Type II geranylgeranyltransferase required more4
    BET21
    56.06(n)1
    53.05(a)1
      16(892078-891101)4
    8563061, 4  NP_015502.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RGTB11 RGTB1 59.04(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)
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    Paralogs for RABGGTB gene
    PGGT1B2  
    1 SIMAP similar gene for RABGGTB using alignment to 4 protein entries:     PGTB2_HUMAN (see all proteins):
    FNTB

    Find genes that share paralogs with RABGGTB           About GenesLikeMe


    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), 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 RABGGTB (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RABGGTB
    DNA2.0 Custom Variant and Variant Library Synthesis for RABGGTB

    (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: 179080    OMIM disorders: --

    1 disease for RABGGTB:    
    About MalaCards
    choroideremia


    Find genes that share disorders with RABGGTB           About GenesLikeMe

    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)
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    PubMed articles for RABGGTB gene, integrated from 10 sources (see all 44):
    (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. (Genomics 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. (Eur. J. Biochem. 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. (Mol. Med. 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. (Genome Res. 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. (J. Biol. Chem. 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. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    7. Parallel SCF adaptor capture proteomics reveals a role for SCFFBXL17 in NRF2 activation via BACH1 repressor turnover. (PubMed id 24035498)1 Tan M.K....Harper J.W. (Mol. Cell 2013)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. 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. (Nat. Cell Biol. 2012)

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

    (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 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.)
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    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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