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    RABGGTB Rab geranylgeranyltransferase subunit beta [ Homo sapiens (human) ]

    Gene ID: 5876, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RABGGTBprovided by HGNC
    Official Full Name
    Rab geranylgeranyltransferase subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:9796
    See related
    Ensembl:ENSG00000137955 MIM:179080; AllianceGenome:HGNC:9796
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GGTB
    Summary
    This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in adrenal (RPKM 28.6), kidney (RPKM 27.1) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See RABGGTB in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (75786194..75795090)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (75622856..75631751)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (76251879..76260775)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 44 member 5 Neighboring gene diphosphoinositol pentakisphosphate kinase 2 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:76143731-76144390 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:76185422-76186047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 998 Neighboring gene acyl-CoA dehydrogenase medium chain Neighboring gene dihydrolipoamide S-succinyltransferase pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 45C Neighboring gene small nucleolar RNA, C/D box 45A Neighboring gene small nucleolar RNA, C/D box 45B Neighboring gene mutS homolog 4 Neighboring gene ankyrin repeat and SOCS box containing 17

    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. [Up-dating the classification of malignant conjunctival melanomas]. Dhermy P. Bull Soc Ophtalmol Fr, 1979 Jun-Jul. PMID 546546
    2. Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. van den Hurk JA, et al. Am J Hum Genet, 1992 Jun. PMID 1598901, Free PMC Article
    3. Phosphoisoprenoids modulate association of Rab geranylgeranyltransferase with REP-1. Thomä NH, et al. J Biol Chem, 2001 Dec 28. PMID 11675392
    4. Double prenylation by RabGGTase can proceed without dissociation of the mono-prenylated intermediate. Thomä NH, et al. J Biol Chem, 2001 Dec 28. PMID 11591706
    5. Characterization of the interaction of the monomeric GTP-binding protein Rab3a with geranylgeranyl transferase II. Johannes L, et al. Eur J Biochem, 1996 Jul 15. PMID 8706741

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A SNARE geranylgeranyltransferase essential for the organization of the Golgi apparatus.
      Title: A SNARE geranylgeranyltransferase essential for the organization of the Golgi apparatus.
    2. This study reports the identification of a previously unknown human prenyltransferase complex consisting of an orphan prenyltransferase alpha subunit, PTAR1, and the catalytic beta-subunit of GGTase2, RabGGTB.
      Title: GGTase3 is a newly identified geranylgeranyltransferase targeting a ubiquitin ligase.
    3. an interaction between a transmembrane receptor and RGGTA
      Title: Regulation of β2-adrenergic receptor maturation and anterograde trafficking by an interaction with Rab geranylgeranyltransferase: modulation of Rab geranylgeranylation by the receptor.
    4. 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.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Clone Names

    • FLJ45262

    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 ISS
    Inferred from Sequence or Structural Similarity
    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 NAS
    Non-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
    		  
    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 beta
    Names
    GGTase-II-beta
    Rab geranylgeranyltransferase beta subunit
    rab GG transferase beta
    rab GGTase beta
    type II protein geranyl-geranyltransferase subunit beta
    NP_004573.2

    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_004582.4 → NP_004573.2  geranylgeranyl transferase type-2 subunit beta

      See identical proteins and their annotated locations for NP_004573.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the supported protein.
      Source sequence(s)
      AL357314, BC020790, BQ773824
      Consensus CDS
      CCDS669.1
      UniProtKB/Swiss-Prot
      P53611, Q92697
      UniProtKB/TrEMBL
      Q59GT6, Q6IB63
      Related
      ENSP00000317473.3, ENST00000319942.8
      Conserved Domains (1) summary
      cd02894
      Location:18 → 301
      GGTase-II; Geranylgeranyltransferase type II (GGTase-II)_like proteins containing the protein prenyltransferase (PTase) domain, beta subunit (alpha 6 - alpha 6 barrel fold). GGTase-IIs are a subgroup of the protein prenyltransferase family of lipid-modifying ...

    RNA

    1. NR_073562.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains two alternate internal exons, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK293057, AL357314, BC020790, BQ773824

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      75786194..75795090
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      75622856..75631751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P53611.2 GenPept UniProtKB/Swiss-Prot:P53611

    Gene LinkOut

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

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