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Aliases for RABGGTA Gene

Aliases for RABGGTA Gene

  • Rab Geranylgeranyltransferase Alpha Subunit 2 3 5
  • 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 56
  • Geranylgeranyl Transferase Type-2 Subunit Alpha 3
  • 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 and Metabolism of proteins. Gene Ontology (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.

Additional gene information for RABGGTA Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RABGGTA Gene

Genomics for RABGGTA Gene

GeneHancer (GH) Regulatory Elements for RABGGTA Gene

Promoters and enhancers for RABGGTA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I024270 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 550.8 -1.1 -1087 5.4 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 LOC102725044 RABGGTA TSSK4 IPO4 RNF31 HOMEZ KHNYN NOP9 NGDN DHRS1
GH14I024187 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 10.2 +83.4 83429 2.6 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 IPO4 NGDN RNA5SP383 KHNYN RNF31 NFATC4 LOC102724814 ENSG00000259321 SDR39U1 SLC22A17
GH14I024246 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.1 +24.5 24494 1.7 HDGF SRF PKNOX1 ZNF449 JUNB EBF1 RBBP5 DPF2 BATF IRF4 CHMP4A RABGGTA DHRS1 NOP9 ENSG00000254692 MDP1 TM9SF1 IPO4 ADCY4 TSSK4
GH14I024262 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 5.1 +7.9 7910 2.8 SMARCE1 ZNF687 RFX1 CEBPB DPF2 ZNF217 ZFHX2 CTBP1 ATF4 GLIS1 TGM1 DHRS1 RABGGTA TINF2
GH14I024391 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 2.2 -120.5 -120536 1.8 PKNOX1 FOXA2 TAF9B NFIB MZF1 ZNF335 ZNF366 FOS RCOR1 ELF1 NYNRIN RABGGTA IPO4 NFATC4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RABGGTA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RABGGTA gene promoter:

Genomic Locations for RABGGTA Gene

Genomic Locations for RABGGTA Gene
chr14:24,265,538-24,271,739
(GRCh38/hg38)
Size:
6,202 bases
Orientation:
Minus strand
chr14:24,734,744-24,740,945
(GRCh37/hg19)

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. 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

Selected DME Specific Peptides for RABGGTA Gene

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

Post-translational modifications for RABGGTA Gene

  • Ubiquitination at isoforms=38, Lys329, isoforms=402, and isoforms=428

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.
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

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 IEA,ISS --
GO:0008270 zinc ion binding IEA --
GO:0008318 protein prenyltransferase activity IEA --
GO:0016740 transferase activity IEA --
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 Models for RABGGTA Gene

MGI Knock Outs for RABGGTA:

miRNA for RABGGTA Gene

miRTarBase miRNAs that target RABGGTA

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
cytosol 5
plasma membrane 4
nucleus 3
extracellular 1
mitochondrion 1
peroxisome 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: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:0006461 protein complex assembly IEA --
GO:0006464 cellular protein modification process TAS 2018975
GO:0007601 visual perception TAS 8380507
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 Antagonist, Target 0
geranylgeranyl diphosphate Experimental Pharma Feedback inhibition, Inhibitor, 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
  • 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
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RABGGTA Gene



Protein tissue co-expression partners for RABGGTA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RABGGTA Gene:

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

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 33 34
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia RABGGTA 33 34
  • 90.48 (n)
dog
(Canis familiaris)
Mammalia RABGGTA 33 34
  • 89.59 (n)
rat
(Rattus norvegicus)
Mammalia Rabggta 33
  • 86.65 (n)
mouse
(Mus musculus)
Mammalia Rabggta 33 16 34
  • 86.3 (n)
oppossum
(Monodelphis domestica)
Mammalia RABGGTA 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RABGGTA 34
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RABGGTA 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rabggta 33
  • 60.95 (n)
zebrafish
(Danio rerio)
Actinopterygii rabggta 33 34
  • 62.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12007 35 33 34
  • 51.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009724 33
  • 30.06 (n)
worm
(Caenorhabditis elegans)
Secernentea M57.2 35 33 34
  • 43.51 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BET4 34 36
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
-- 34
  • 34 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6797 33
Species where no ortholog for RABGGTA was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1001689568 -- 24,272,741(-) A/G upstream_transcript_variant
rs1002121704 -- 24,269,320(-) A/T intron_variant
rs1002200778 -- 24,272,416(-) A/G upstream_transcript_variant
rs1002402298 -- 24,265,528(-) C/T downstream_transcript_variant
rs1002565484 -- 24,267,797(-) A/G intron_variant

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

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

Disorders for RABGGTA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
choroideremia
  • choroidal sclerosis
- 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 58
  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 58
  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 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for RABGGTA Gene

Sources for RABGGTA Gene

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