Aliases for RABGGTA Gene

Aliases for RABGGTA Gene

  • Rab Geranylgeranyltransferase Subunit Alpha 2 3 4 5
  • Protein Prenyltransferase Alpha Subunit Repeat Containing 3 2 3
  • Geranylgeranyl Transferase Type II Subunit Alpha 3 4
  • Geranylgeranyl Transferase Type-2 Subunit Alpha 3 4
  • Rab Geranyl-Geranyltransferase Subunit Alpha 3 4
  • Rab GG Transferase Alpha 3 4
  • Rab GGTase Alpha 3 4
  • EC 2.5.1.60 4 50
  • PTAR3 2 3
  • Rab Geranylgeranyltransferase Alpha Subunit 3
  • RABGGTA 5

External Ids for RABGGTA Gene

Previous GeneCards Identifiers for RABGGTA Gene

  • GC14M022107
  • GC14M018522
  • GC14M022724
  • GC14M023804
  • GC14M024734
  • GC14M004849

Summaries for RABGGTA Gene

GeneCards Summary for RABGGTA Gene

RABGGTA (Rab Geranylgeranyltransferase Subunit Alpha) is a Protein Coding gene. Diseases associated with RABGGTA include Choroideremia and Pharynx Squamous Cell Carcinoma. 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 protein prenyltransferase activity. An important paralog of this gene is FNTA.

UniProtKB/Swiss-Prot Summary for RABGGTA 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 Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RABGGTA Gene

Genomics for RABGGTA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RABGGTA 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 RABGGTA on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the RABGGTA gene promoter:
  • CUTL1
  • NF-kappaB
  • NF-kappaB1
  • Sp1
  • STAT3

Genomic Locations for RABGGTA Gene

Latest Assembly
chr14:24,265,538-24,271,627
(GRCh38/hg38)
Size:
6,090 bases
Orientation:
Minus strand

Previous Assembly
chr14:24,734,744-24,740,833
(GRCh37/hg19 by Entrez Gene)
Size:
6,090 bases
Orientation:
Minus strand

chr14:24,734,744-24,740,945
(GRCh37/hg19 by Ensembl)
Size:
6,202 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr14(PATCHES):566,516-572,605 (-)

Genomic View for RABGGTA Gene

Genes around RABGGTA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RABGGTA Gene

Proteins for RABGGTA Gene

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

    Protein Symbol:
    Q92696-PGTA_HUMAN
    Recommended name:
    Geranylgeranyl transferase type-2 subunit alpha
    Protein Accession:
    Q92696
    Secondary Accessions:
    • A8K5N2
    • D3DS69

    Protein attributes for RABGGTA Gene

    Size:
    567 amino acids
    Molecular mass:
    65072 Da
    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 (PubMed:7991565). 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 (PubMed:18532927). Interacts with non-phosphorylated form of RAB8A; phosphorylation of RAB8A at 'Thr-72' disrupts this interaction (PubMed:26824392).

neXtProt entry for RABGGTA Gene

Selected DME Specific Peptides for RABGGTA Gene

Q92696:
  • GRNRPSH
  • VFQKRQAGELDESVLELTSQILGANPDFATLWNCRREVL
  • PAEELAFTDSLITRNFSNYSSWHYRSCLLPQLHPQPDSG
  • ELELVQNAFFTDPNDQSAWFYHRWLLGRA
  • QKSPEELA
  • QKECVLLK
  • LPQHTFRVIWT

Post-translational modifications for RABGGTA Gene

  • Ubiquitination at Lys38, Lys329, Lys402, and Lys428
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for RABGGTA

Domains & Families for RABGGTA Gene

Gene Families for RABGGTA Gene

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

Protein Domains for RABGGTA Gene

InterPro:
Blocks:
  • Leucine-rich repeat signature
  • Rab geranylgeranyltransferase, alpha subunit, insert

Suggested Antigen Peptide Sequences for RABGGTA Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50324, highly similar to Geranylgeranyl transferase type-2 alpha subunit (EC 2.5.1.60) (B4E069_HUMAN)
  • Rab geranylgeranyltransferase, alpha subunit, isoform CRA_a (D3DS70_HUMAN)
  • Rab geranylgeranyltransferase subunit alpha (PGTA_HUMAN)
  • RABGGTA protein (Q6FHF7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92696

UniProtKB/Swiss-Prot:

PGTA_HUMAN :
  • Belongs to the protein prenyltransferase subunit alpha family.
Family:
  • Belongs to the protein prenyltransferase subunit alpha family.
genes like me logo Genes that share domains with RABGGTA: view

Function for RABGGTA Gene

Molecular function for RABGGTA 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; Evidence={ECO:0000269|PubMed:7991565};.
UniProtKB/Swiss-Prot EnzymeRegulation:
The enzymatic reaction requires the aid of a Rab escort protein (also called component A), such as CHM.
GENATLAS Biochemistry:
Rab geranyl-geranyltransferase B,type II,alpha subunit,2 kb upstream TGM1 (see symbol) in a head-to-head orientation,but not co-regulated in the terminal differentiation program of epidermal keratinocytes

Enzyme Numbers (IUBMB) for RABGGTA Gene

Phenotypes From GWAS Catalog for RABGGTA Gene

Gene Ontology (GO) - Molecular Function for RABGGTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004659 prenyltransferase activity IEA --
GO:0004663 Rab geranylgeranyltransferase activity IEA,ISS --
GO:0005515 protein binding IEA,IPI 21905166
GO:0008270 zinc ion binding IEA --
GO:0008318 protein prenyltransferase activity IEA --
genes like me logo Genes that share ontologies with RABGGTA: view
genes like me logo Genes that share phenotypes with RABGGTA: view

Animal Models for RABGGTA Gene

MGI Knock Outs for RABGGTA:

Inhibitory RNAs for research

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

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RABGGTA Gene

Localization for RABGGTA 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 RABGGTA gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 4
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RABGGTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005968 Rab-protein geranylgeranyltransferase complex IEA,ISS --
genes like me logo Genes that share ontologies with RABGGTA: view

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

Pathways & Interactions for RABGGTA Gene

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

Pathways by source for RABGGTA Gene

Gene Ontology (GO) - Biological Process for RABGGTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process TAS 2018975
GO:0007601 visual perception TAS 8380507
GO:0018215 protein phosphopantetheinylation IEA --
GO:0018342 protein prenylation IEA --
GO:0018344 protein geranylgeranylation IEA,ISS --
genes like me logo Genes that share ontologies with RABGGTA: view

No data available for SIGNOR curated interactions for RABGGTA Gene

Drugs & Compounds for RABGGTA Gene

(3) Drugs for RABGGTA 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 RABGGTA 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 RABGGTA: view

Transcripts for RABGGTA Gene

mRNA/cDNA for RABGGTA Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
21 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 RABGGTA

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

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^
SP1: - - - - -
SP2: - - -
SP3: - -
SP4: - - - - - - -
SP5:
SP6: - -
SP7: - - - -
SP8: -
SP9: - -
SP10: - - - - - -
SP11: - - - - -
SP12: - -
SP13: - -
SP14: - -
SP15:
SP16:
SP17:

ExUns: 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18
SP1: - -
SP2: - -
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for RABGGTA Gene

GeneLoc Exon Structure for
RABGGTA

Expression for RABGGTA Gene

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

mRNA differential expression in normal tissues according to GTEx for RABGGTA Gene

This gene is overexpressed in Esophagus - Mucosa (x4.1).

Protein differential expression in normal tissues from HIPED for RABGGTA Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.2).

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



Protein tissue co-expression partners for RABGGTA Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for RABGGTA Gene:

Hs.377992

Evidence on tissue expression from TISSUES for RABGGTA Gene

  • Nervous system(4.8)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with RABGGTA: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RABGGTA Gene

Orthologs for RABGGTA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RABGGTA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RABGGTA 29 30
  • 99.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RABGGTA 29 30
  • 90.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RABGGTA 29 30
  • 89.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rabggta 29
  • 86.65 (n)
Mouse
(Mus musculus)
Mammalia Rabggta 29 16 30
  • 86.3 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RABGGTA 30
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RABGGTA 30
  • 80 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RABGGTA 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rabggta 29
  • 60.95 (n)
Zebrafish
(Danio rerio)
Actinopterygii rabggta 29 30
  • 62.58 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG12007 29 30 31
  • 51.64 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009724 29
  • 30.06 (n)
Worm
(Caenorhabditis elegans)
Secernentea M57.2 29 30 31
  • 43.51 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BET4 30 32
  • 34 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 49 (a)
OneToMany
-- 30
  • 34 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6797 29
Species where no ortholog for RABGGTA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • 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)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RABGGTA Gene

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

Paralogs for RABGGTA Gene

Paralogs for RABGGTA Gene

(1) SIMAP similar genes for RABGGTA Gene using alignment to 8 proteins:

  • PGTA_HUMAN
  • D3DS70_HUMAN
  • H0YKP6_HUMAN
  • H0YKZ8_HUMAN
  • H0YLG7_HUMAN
  • H0YLH3_HUMAN
  • H0YMG5_HUMAN
  • Q6FHF7_HUMAN
genes like me logo Genes that share paralogs with RABGGTA: view

Variants for RABGGTA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RABGGTA Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs34861984 Benign: not provided 24,269,495(-) G/A
NM_182836.2(RABGGTA):c.627C>T (p.Leu209=)
SYNONYMOUS
rs729421 -- p.Thr420Ala

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

Variant ID Type Subtype PubMed ID
nsv952818 CNV deletion 24416366

Variation tolerance for RABGGTA Gene

Residual Variation Intolerance Score: 32.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 27.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RABGGTA Gene

Human Gene Mutation Database (HGMD)
RABGGTA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RABGGTA
Leiden Open Variation Database (LOVD)
RABGGTA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RABGGTA Gene

Disorders for RABGGTA Gene

MalaCards: The human disease database

(3) MalaCards diseases for RABGGTA Gene - From: COP and GCD

Disorder Aliases PubMed IDs
choroideremia
  • chm
pharynx squamous cell carcinoma
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RABGGTA

genes like me logo Genes that share disorders with RABGGTA: view

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

Publications for RABGGTA Gene

  1. The genes encoding geranylgeranyl transferase alpha-subunit and transglutaminase 1 are very closely linked but not functionally related in terminally differentiating keratinocytes. (PMID: 9196026) Song HJ … Steinert PM (Biochemical and biophysical research communications 1997) 3 4 22
  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. 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
  4. Rab geranylgeranyl transferase catalyzes the geranylgeranylation of adjacent cysteines in the small GTPases Rab1A, Rab3A, and Rab5A. (PMID: 7991565) Farnsworth CC … Glomset JA (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4
  5. Genome-Wide CRISPR-Cas9 Screen Reveals Selective Vulnerability of ATRX-Mutant Cancers to WEE1 Inhibition. (PMID: 31551363) Liang J … Jiao Y (Cancer research 2020) 3

Products for RABGGTA Gene

Sources for RABGGTA Gene