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Aliases for RABGGTA Gene

Aliases for RABGGTA Gene

  • Rab Geranylgeranyltransferase, Alpha Subunit 2 3
  • Protein Prenyltransferase Alpha Subunit Repeat Containing 3 2 3
  • Geranylgeranyl Transferase Type II 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 63
  • Rab Geranylgeranyltransferase Subunit Alpha 4
  • PTAR3 3

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, Alpha Subunit) is a Protein Coding gene. Diseases associated with RABGGTA include choroideremia. Among its related pathways are Signaling events mediated by PRL. GO annotations related to this gene include Rab GTPase binding and protein prenyltransferase activity.

UniProtKB/Swiss-Prot 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RABGGTA Gene

Genomics for RABGGTA Gene

Regulatory Elements for RABGGTA Gene

Genomic Location for RABGGTA Gene

Chromosome:
14
Start:
24,265,538 bp from pter
End:
24,271,739 bp from pter
Size:
6,202 bases
Orientation:
Minus strand

Genomic View for RABGGTA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. 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.

neXtProt entry for RABGGTA Gene

Proteomics data for RABGGTA Gene at MOPED

Post-translational modifications for RABGGTA Gene

  • Ubiquitination at Lys 38, Lys 329, Lys 402, and Lys 428
  • Modification sites at PhosphoSitePlus

Domains & Families for RABGGTA Gene

Gene Families for RABGGTA Gene

Graphical View of Domain Structure for InterPro Entry

Q92696

UniProtKB/Swiss-Prot:

PGTA_HUMAN :
  • Belongs to the protein prenyltransferase subunit alpha family.
  • Contains 5 LRR (leucine-rich) repeats.
Family:
  • Belongs to the protein prenyltransferase subunit alpha family.
Similarity:
  • Contains 5 LRR (leucine-rich) repeats.
  • Contains 6 PFTA repeats.
genes like me logo Genes that share domains with RABGGTA: view

Function for RABGGTA Gene

Molecular function for RABGGTA Gene

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
UniProtKB/Swiss-Prot CatalyticActivity:
Geranylgeranyl diphosphate + protein-cysteine = S-geranylgeranyl-protein + diphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
The enzymatic reaction requires the aid of a Rab escort protein (also called component A), such as CHM
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.

Enzyme Numbers (IUBMB) for RABGGTA Gene

Gene Ontology (GO) - Molecular Function for RABGGTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004663 Rab geranylgeranyltransferase activity ISS --
GO:0005515 protein binding --
GO:0008270 zinc ion binding IEA --
GO:0008318 protein prenyltransferase activity --
GO:0017137 Rab GTPase binding ISS --
genes like me logo Genes that share ontologies with RABGGTA: view
genes like me logo Genes that share phenotypes with RABGGTA: view

Animal Model Products

miRNA for RABGGTA Gene

miRTarBase miRNAs that target RABGGTA

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RABGGTA

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for RABGGTA Gene

Localization for RABGGTA Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RABGGTA Gene COMPARTMENTS Subcellular localization image for RABGGTA gene
Compartment Confidence
nucleus 2

Gene Ontology (GO) - Cellular Components for RABGGTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005968 Rab-protein geranylgeranyltransferase complex 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

1 BioSystems pathway for RABGGTA Gene

Interacting Proteins 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:0018342 protein prenylation --
GO:0018344 protein geranylgeranylation 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

(5) Drugs for RABGGTA Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FARNESYL Experimental Pharma Target 0
farnesyl diphosphate Experimental Pharma Antagonist, Target 0
GERANYLGERANYL DIPHOSPHATE Experimental Pharma Feedback inhibition, Inhibitor, Target 0
N-Formylmethionine Experimental Pharma Target 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for RABGGTA Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Geranylgeranyl-PP
  • 2-trans,6-trans,10-trans-Geranylgeranyl diphosphate
  • 3,7,11,15-Tetramethyl-2,6,10,14-hexadecatetraenyl diphosphate
  • All-trans-geranyl-geranyl-pp
  • Geranylgeranyl-diphosphate
  • Geranylgeranyl-PP
genes like me logo Genes that share compounds with RABGGTA: view

Transcripts for RABGGTA Gene

Unigene Clusters for RABGGTA Gene

Rab geranylgeranyltransferase, alpha subunit:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RABGGTA

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
RABGGTA

Expression for RABGGTA Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for RABGGTA Gene



SOURCE GeneReport for Unigene cluster for RABGGTA Gene Hs.377992

genes like me logo Genes that share expression patterns with RABGGTA: view

Protein tissue co-expression partners for RABGGTA Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia RABGGTA 35
  • 90.48 (n)
  • 94.89 (a)
RABGGTA 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RABGGTA 35
  • 89.59 (n)
  • 94 (a)
RABGGTA 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rabggta 35
  • 86.3 (n)
  • 90.83 (a)
Rabggta 16
Rabggta 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RABGGTA 35
  • 99.53 (n)
  • 99.65 (a)
RABGGTA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rabggta 35
  • 86.65 (n)
  • 91.36 (a)
oppossum
(Monodelphis domestica)
Mammalia RABGGTA 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RABGGTA 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RABGGTA 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rabggta 35
  • 60.95 (n)
  • 60.36 (a)
zebrafish
(Danio rerio)
Actinopterygii rabggta 35
  • 62.58 (n)
  • 58.08 (a)
rabggta 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG12007 37
  • 37 (a)
CG12007 35
  • 51.64 (n)
  • 42.69 (a)
CG12007 36
  • 34 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009724 35
  • 30.06 (n)
  • 11.75 (a)
worm
(Caenorhabditis elegans)
Secernentea M57.2 37
  • 30 (a)
M57.2 35
  • 43.51 (n)
  • 33.89 (a)
M57.2 36
  • 31 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BET4 36
  • 34 (a)
OneToOne
BET4 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6797 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
Species with no ortholog for RABGGTA:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for RABGGTA Gene

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

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

No data available for Paralogs for RABGGTA Gene

Variants for RABGGTA Gene

Sequence variations from dbSNP and Humsavar for RABGGTA Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs14193 -- 24,266,821(-) AATCG(A/C/T)CTCCG reference, synonymous-codon, nc-transcript-variant
rs729421 - 24,267,755(-) GGGCA(A/G)CGTAT reference, missense, nc-transcript-variant
rs941502 -- 24,267,997(-) GGAGG(A/T)TCCAA intron-variant
rs941503 -- 24,266,951(-) CTGGC(C/T)GAGGA intron-variant
rs1131224 -- 24,269,096(-) CACCG(G/T)TGGCT synonymous-codon, reference, utr-variant-5-prime, nc-transcript-variant

Variation tolerance for RABGGTA Gene

Residual Variation Intolerance Score: 32.62% 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)

Relevant External Links for RABGGTA Gene

HapMap Linkage Disequilibrium report
RABGGTA
Human Gene Mutation Database (HGMD)
RABGGTA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RABGGTA Gene

Disorders for RABGGTA Gene

MalaCards: The human disease database

(1) MalaCards diseases for RABGGTA Gene - From: GeneCards

Disorder Aliases PubMed IDs
choroideremia
  • hydatidiform mole, recurrent, 1
- elite association

Relevant External Links for RABGGTA

Genetic Association Database (GAD)
RABGGTA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 5'-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene. (PMID: 11136552) Li W. … Swank R.T. (Mol. Genet. Metab. 2000) 23 67
  2. 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 H.-J. … Steinert P.M. (Biochem. Biophys. Res. Commun. 1997) 23 67
  3. 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 M.C. (Genomics 1996) 2 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67

Products for RABGGTA Gene

Sources for RABGGTA Gene

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