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RABGGTA Rab geranylgeranyltransferase subunit alpha [ Homo sapiens (human) ]

Gene ID: 5875, updated on 27-Nov-2024

Summary

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Official Symbol
RABGGTAprovided by HGNC
Official Full Name
Rab geranylgeranyltransferase subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:9795
See related
Ensembl:ENSG00000100949 MIM:601905; AllianceGenome:HGNC:9795
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PTAR3
Summary
Predicted to enable small GTPase binding activity. Predicted to contribute to Rab geranylgeranyltransferase activity. Predicted to be involved in protein geranylgeranylation. Predicted to be located in cytosol and plasma membrane. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in esophagus (RPKM 19.5), lung (RPKM 8.4) and 25 other tissues See more
Orthologs
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Genomic context

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See RABGGTA in Genome Data Viewer
Location:
14q12
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24265538..24271627, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18463884..18469973, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24734744..24740833, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24710068-24710597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8201 Neighboring gene Sharpr-MPRA regulatory region 7959 Neighboring gene TERF1 interacting nuclear factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8203 Neighboring gene transglutaminase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24727660-24728357 Neighboring gene TGM1 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8209 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:24747863-24748093 Neighboring gene NOP9 nucleolar protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8213 Neighboring gene dehydrogenase/reductase 1 Neighboring gene nonconserved acetylation island sequence 81 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5636 Neighboring gene cell death inducing DFFA like effector b Neighboring gene leukotriene B4 receptor 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The genes encoding geranylgeranyl transferase alpha-subunit and transglutaminase 1 are very closely linked but not functionally related in terminally differentiating keratinocytes. Song HJ, et al. Biochem Biophys Res Commun, 1997 Jun 9. PMID 9196026
  2. Protein farnesyltransferase and geranylgeranyltransferase share a common alpha subunit. Seabra MC, et al. Cell, 1991 May 3. PMID 2018975
  3. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. Esposito G, et al. Hum Mutat, 2011 Dec. PMID 21905166
  4. 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. van Bokhoven H, et al. Genomics, 1996 Dec 1. PMID 8954794
  5. Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. Seabra MC, et al. Science, 1993 Jan 15. PMID 8380507

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to Rab geranylgeranyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Rab geranylgeranyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein geranylgeranylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein modification process TAS
Traceable Author Statement
more info
 PubMed 
involved_in visual perception TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of Rab-protein geranylgeranyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Rab-protein geranylgeranyltransferase complex ISO
Inferred from Sequence Orthology
more info
  
part_of Rab-protein geranylgeranyltransferase complex ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
geranylgeranyl transferase type-2 subunit alpha
Names
Rab GG transferase alpha
Rab GGTase alpha
Rab geranylgeranyltransferase alpha subunit
geranylgeranyl transferase type II subunit alpha
protein prenyltransferase alpha subunit repeat containing 3
rab geranyl-geranyltransferase subunit alpha
NP_004572.3
NP_878256.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_004581.5 → NP_004572.3  geranylgeranyl transferase type-2 subunit alpha

    See identical proteins and their annotated locations for NP_004572.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK292613, BC003093, DA379718, DB116988
    Consensus CDS
    CCDS45088.1
    UniProtKB/Swiss-Prot
    A8K5N2, D3DS69, Q92696
    UniProtKB/TrEMBL
    Q6FHF7
    Related
    ENSP00000382341.3, ENST00000399409.7
    Conserved Domains (4) summary
    sd00031
    Location:443 → 461
    LRR_1; leucine-rich repeat [structural motif]
    pfam07711
    Location:245 → 345
    RabGGT_insert; Rab geranylgeranyl transferase alpha-subunit, insert domain
    pfam14580
    Location:468 → 546
    LRR_9; Leucine-rich repeat
    cl27590
    Location:1 → 237
    PPTA; Protein prenyltransferase alpha subunit repeat

  2. NM_182836.3 → NP_878256.1  geranylgeranyl transferase type-2 subunit alpha

    See identical proteins and their annotated locations for NP_878256.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC003093, DA379718
    Consensus CDS
    CCDS45088.1
    UniProtKB/Swiss-Prot
    A8K5N2, D3DS69, Q92696
    UniProtKB/TrEMBL
    Q6FHF7
    Related
    ENSP00000216840.6, ENST00000216840.11
    Conserved Domains (4) summary
    sd00031
    Location:443 → 461
    LRR_1; leucine-rich repeat [structural motif]
    pfam07711
    Location:245 → 345
    RabGGT_insert; Rab geranylgeranyl transferase alpha-subunit, insert domain
    pfam14580
    Location:468 → 546
    LRR_9; Leucine-rich repeat
    cl27590
    Location:1 → 237
    PPTA; Protein prenyltransferase alpha subunit repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    24265538..24271627 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p14 PATCHES

    Range
    566516..572605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    18463884..18469973 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92696.2 GenPept UniProtKB/Swiss-Prot:Q92696

Gene LinkOut

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