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 trans... See more...

Aliases for RABGGTB Gene

Aliases for RABGGTB Gene

  • Rab Geranylgeranyltransferase Subunit Beta 2 3 4 5
  • Type II Protein Geranyl-Geranyltransferase Subunit Beta 3 4
  • Geranylgeranyl Transferase Type-2 Subunit Beta 3 4
  • Rab GG Transferase Beta 3 4
  • Rab GGTase Beta 3 4
  • GGTase-II-Beta 3 4
  • EC 2.5.1.60 4 50
  • GGTB 3 4
  • Geranylgeranyl Transferase Type II Subunit Beta 4
  • Rab Geranyl-Geranyltransferase Subunit Beta 4
  • Rab Geranylgeranyltransferase Beta Subunit 3
  • RABGGTB 5

External Ids for RABGGTB Gene

Previous GeneCards Identifiers for RABGGTB Gene

  • GC01P076371
  • GC01P075186
  • GC01P075667
  • GC01P075674
  • GC01P075963
  • GC01P076024
  • GC01P076251
  • GC01P074381

Summaries for RABGGTB Gene

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 Subunit Beta) is a Protein Coding gene. Diseases associated with RABGGTB include Choroideremia. Among its related pathways are Gene Expression and TP53 Regulates Transcription of Cell Death Genes. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding and Rab geranylgeranyltransferase activity. An important paralog of this gene is FNTB.

UniProtKB/Swiss-Prot Summary for RABGGTB Gene

  • 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RABGGTB Gene

Genomics for RABGGTB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RABGGTB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RABGGTB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RABGGTB

Top Transcription factor binding sites by QIAGEN in the RABGGTB gene promoter:
  • AP-4
  • C/EBPalpha
  • E4BP4
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-6
  • LyF-1
  • POU2F1
  • POU2F1a

Genomic Locations for RABGGTB Gene

Latest Assembly
chr1:75,786,194-75,795,090
(GRCh38/hg38)
Size:
8,897 bases
Orientation:
Plus strand

Previous Assembly
chr1:76,251,879-76,260,775
(GRCh37/hg19 by Entrez Gene)
Size:
8,897 bases
Orientation:
Plus strand

chr1:76,251,879-76,260,764
(GRCh37/hg19 by Ensembl)
Size:
8,886 bases
Orientation:
Plus strand

Genomic View for RABGGTB Gene

Genes around RABGGTB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RABGGTB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RABGGTB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RABGGTB Gene

Proteins for RABGGTB Gene

  • Protein details for RABGGTB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53611-PGTB2_HUMAN
    Recommended name:
    Geranylgeranyl transferase type-2 subunit beta
    Protein Accession:
    P53611
    Secondary Accessions:
    • Q92697

    Protein attributes for RABGGTB Gene

    Size:
    331 amino acids
    Molecular mass:
    36924 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • 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 (By similarity). The Rab GGTase dimer (RGGT) interacts with CHM (component A) prior to Rab protein binding; the association is stabilized by geranylgeranyl pyrophosphate (GGpp) (PubMed:18532927). The CHM:RGGT:Rab complex is destabilized by GGpp (PubMed:18532927). Interaction of RABGGTB with prenylated PTP4A2 precludes its association with RABGGTA and inhibits enzyme activity (PubMed:11447212). Interacts with CHODL (By similarity). Interacts with non-phosphorylated form of RAB8A; phosphorylation of RAB8A at 'Thr-72' disrupts this interaction (PubMed:26824392).

    Three dimensional structures from OCA and Proteopedia for RABGGTB Gene

neXtProt entry for RABGGTB Gene

Selected DME Specific Peptides for RABGGTB Gene

P53611:
  • DVCYSWWVL
  • GWWLCERQLP
  • TLSAVQIL
  • NFDGGFG
  • ESHAGQI
  • ETGGFADRPGD

Post-translational modifications for RABGGTB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RABGGTB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for RABGGTB
  • Boster Bio Antibodies for RABGGTB

Domains & Families for RABGGTB Gene

Gene Families for RABGGTB Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for RABGGTB Gene

InterPro:
Blocks:
  • Prenyltransferase/squalene oxidase

Suggested Antigen Peptide Sequences for RABGGTB Gene

GenScript: Design optimal peptide antigens:
  • Type II protein geranyl-geranyltransferase subunit beta (PGTB2_HUMAN)
  • Rab geranylgeranyltransferase, beta subunit, isoform CRA_d (Q6IB63_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P53611

UniProtKB/Swiss-Prot:

PGTB2_HUMAN :
  • Belongs to the protein prenyltransferase subunit beta family.
Family:
  • Belongs to the protein prenyltransferase subunit beta family.
genes like me logo Genes that share domains with RABGGTB: view

Function for RABGGTB Gene

Molecular function for RABGGTB Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=geranylgeranyl diphosphate + L-cysteinyl-[protein] = diphosphate + S-geranylgeranyl-L-cysteinyl-[protein]; Xref=Rhea:RHEA:21240, Rhea:RHEA-COMP:10131, Rhea:RHEA-COMP:11537, ChEBI:CHEBI:29950, ChEBI:CHEBI:33019, ChEBI:CHEBI:57533, ChEBI:CHEBI:86021; EC=2.5.1.60;.
UniProtKB/Swiss-Prot EnzymeRegulation:
The enzymatic reaction requires the aid of a Rab escort protein (also called component A).
GENATLAS Biochemistry:
Rab geranyl-geranyltransferase B,type II,beta subunit

Enzyme Numbers (IUBMB) for RABGGTB Gene

Phenotypes From GWAS Catalog for RABGGTB Gene

Gene Ontology (GO) - Molecular Function for RABGGTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004659 prenyltransferase activity IEA --
GO:0004663 Rab geranylgeranyltransferase activity IBA,ISS --
GO:0005515 protein binding IPI 12620389
GO:0008270 zinc ion binding ISS --
genes like me logo Genes that share ontologies with RABGGTB: view
genes like me logo Genes that share phenotypes with RABGGTB: view

Animal Models for research

  • Taconic Biosciences Mouse Models for RABGGTB

miRNA for RABGGTB Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RABGGTB

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RABGGTB Gene

Localization for RABGGTB Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RABGGTB gene
Compartment Confidence
plasma membrane 4
cytosol 4
cytoskeleton 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RABGGTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005968 Rab-protein geranylgeranyltransferase complex IBA,ISS --
genes like me logo Genes that share ontologies with RABGGTB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RABGGTB Gene

Pathways & Interactions for RABGGTB Gene

genes like me logo Genes that share pathways with RABGGTB: view

Pathways by source for RABGGTB Gene

Gene Ontology (GO) - Biological Process for RABGGTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process NAS 8380507
GO:0007601 visual perception TAS 8380507
GO:0018215 protein phosphopantetheinylation IEA --
GO:0018342 protein prenylation IBA 21873635
GO:0018344 protein geranylgeranylation IBA,ISS --
genes like me logo Genes that share ontologies with RABGGTB: view

No data available for SIGNOR curated interactions for RABGGTB Gene

Drugs & Compounds for RABGGTB Gene

(3) Drugs for RABGGTB Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
farnesyl diphosphate Experimental Pharma Target 0
geranylgeranyl diphosphate Experimental Pharma Target 0
N-Formylmethionine Experimental Pharma Target 0

(2) Additional Compounds for RABGGTB Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Geranylgeranyl-PP
  • all-trans-Geranylgeranyl diphosphate
  • all-trans-Geranylgeranyl pyrophosphate
  • Geranylgeranyl diphosphate
  • Geranylgeranyl pyrophosphate
  • GGDP
6699-20-3
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with RABGGTB: view

Transcripts for RABGGTB Gene

mRNA/cDNA for RABGGTB Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RABGGTB

Alternative Splicing Database (ASD) splice patterns (SP) for RABGGTB Gene

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: -
SP6: - - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - -
SP11: - - - - - - -
SP12: - -
SP13: - - - - - - - - -
SP14: - -
SP15: -
SP16: - - - -
SP17: -
SP18:
SP19: - - - - - - - - - - -
SP20:
SP21: - - - -
SP22: -
SP23:

ExUns: 10c · 10d · 10e ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13a · 13b · 13c · 13d
SP1: - - -
SP2: - - -
SP3: - -
SP4:
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - -
SP14:
SP15: - - - -
SP16:
SP17: - -
SP18: - - - -
SP19:
SP20:
SP21:
SP22:
SP23:

Relevant External Links for RABGGTB Gene

GeneLoc Exon Structure for
RABGGTB

Expression for RABGGTB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RABGGTB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RABGGTB Gene

This gene is overexpressed in Bone (43.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RABGGTB Gene



Protein tissue co-expression partners for RABGGTB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RABGGTB

SOURCE GeneReport for Unigene cluster for RABGGTB Gene:

Hs.78948

Evidence on tissue expression from TISSUES for RABGGTB Gene

  • Nervous system(4.7)
  • Muscle(4.4)
  • Liver(2.4)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with RABGGTB: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RABGGTB Gene

Orthologs for RABGGTB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RABGGTB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RABGGTB 29 30
  • 99.66 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RABGGTB 30
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RABGGTB 29 30
  • 92.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RABGGTB 29 30
  • 91.34 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RABGGTB 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Rabggtb 29 16 30
  • 86.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rabggtb 29
  • 84.79 (n)
Chicken
(Gallus gallus)
Aves RABGGTB 29 30
  • 80.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RABGGTB 30
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rabggtb 29
  • 79.76 (n)
Str.4848 29
Zebrafish
(Danio rerio)
Actinopterygii rabggtb 29 30
  • 75.53 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta &bgr;ggt-II 31
  • 64 (a)
betaggt-II 29 30
  • 58.14 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013277 29
  • 59.17 (n)
Worm
(Caenorhabditis elegans)
Secernentea ggtb-1 29 30
  • 57.25 (n)
ManyToMany
B0280.1a 31
  • 55 (a)
B0280.1b 31
  • 55 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BET2 29 30 32
  • 56.06 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E04797g 29
  • 53.62 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL268W 29
  • 52.26 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RGTB1 29
  • 59.04 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0512300 29
  • 59.59 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 65 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ptb1 29
  • 55.12 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07509 29
  • 53.16 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3098 29
Species where no ortholog for RABGGTB was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RABGGTB Gene

ENSEMBL:
Gene Tree for RABGGTB (if available)
TreeFam:
Gene Tree for RABGGTB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RABGGTB: view image
Alliance of Genome Resources:
Additional Orthologs for RABGGTB

Paralogs for RABGGTB Gene

Paralogs for RABGGTB Gene

(1) SIMAP similar genes for RABGGTB Gene using alignment to 4 proteins:

  • PGTB2_HUMAN
  • D3DQ78_HUMAN
  • Q5T4U8_HUMAN
  • Q6IB63_HUMAN

Pseudogenes.org Pseudogenes for RABGGTB Gene

genes like me logo Genes that share paralogs with RABGGTB: view

Variants for RABGGTB Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RABGGTB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RABGGTB Gene

Variant ID Type Subtype PubMed ID
nsv519329 CNV gain 19592680

Variation tolerance for RABGGTB Gene

Residual Variation Intolerance Score: 20.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RABGGTB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RABGGTB
Leiden Open Variation Database (LOVD)
RABGGTB

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RABGGTB Gene

Disorders for RABGGTB Gene

MalaCards: The human disease database

(1) MalaCards diseases for RABGGTB Gene - From: GCD

Disorder Aliases PubMed IDs
choroideremia
  • chm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RABGGTB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RABGGTB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RABGGTB Gene

Publications for RABGGTB Gene

  1. Characterization of the interaction of the monomeric GTP-binding protein Rab3a with geranylgeranyl transferase II. (PMID: 8706741) Johannes L … Darchen F (European journal of biochemistry 1996) 2 3 4
  2. 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. (PMID: 8954794) van Bokhoven H … Seabra MC (Genomics 1996) 2 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Interaction of farnesylated PRL-2, a protein-tyrosine phosphatase, with the beta-subunit of geranylgeranyltransferase II. (PMID: 11447212) Si X … Pallen CJ (The Journal of biological chemistry 2001) 3 4

Products for RABGGTB Gene

Sources for RABGGTB Gene