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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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