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

Summary

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A SNARE geranylgeranyltransferase essential for the organization of the Golgi apparatus.
Title: A SNARE geranylgeranyltransferase essential for the organization of the Golgi apparatus.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

G20708 (e-PCR)
- UniSTS:61964

A006C38 (e-PCR)
- UniSTS:61965

D1S1423 (e-PCR)
- UniSTS:149619

RH64622 (e-PCR)
- UniSTS:86397

GDB:313783 (e-PCR)
- UniSTS:13512

GDB:631802 (e-PCR)
- UniSTS:158429

RH104502 (e-PCR)
- UniSTS:98802

D1S2370 (e-PCR)
- UniSTS:76541

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

EC 2.5.1.60

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)

NM_004582.4 → NP_004573.2 geranylgeranyl transferase type-2 subunit beta

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

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