FNTA farnesyltransferase, CAAX box, subunit alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: FNTAprovided by HGNC
Official Full Name: farnesyltransferase, CAAX box, subunit alphaprovided by HGNC
Primary source: HGNC:HGNC:3782
See related: Ensembl:ENSG00000168522 MIM:134635; AllianceGenome:HGNC:3782
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: FPTA; PTAR2; PGGT1A
Summary: Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010]
Expression: Ubiquitous expression in fat (RPKM 32.7), placenta (RPKM 27.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p11.21

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (43056323..43085785)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (43325268..43354718)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (42911466..42940928)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Protein farnesylation is upregulated in Alzheimer's human brains and neuron-specific suppression of farnesyltransferase mitigates pathogenic processes in Alzheimer's model mice.
Title: Protein farnesylation is upregulated in Alzheimer's human brains and neuron-specific suppression of farnesyltransferase mitigates pathogenic processes in Alzheimer's model mice.
Cell-permeable CaaX-peptides affect K-Ras downstream signaling and promote cell death in cancer cells.
Title: Cell-permeable CaaX-peptides affect K-Ras downstream signaling and promote cell death in cancer cells.
Scaffold association factor B (SAFB) is required for expression of prenyltransferases and RAS membrane association.
Title: Scaffold association factor B (SAFB) is required for expression of prenyltransferases and RAS membrane association.
These findings collectively suggest that the combination of farnesyltransferase inhibitors and gamma-secretase inhibitors is a promising therapeutic strategy for glioblastoma through selectively targeting the cancer stem cell subpopulation.
Title: Inhibition of Farnesyltransferase Potentiates NOTCH-Targeted Therapy against Glioblastoma Stem Cells.
Exploring the putative self-binding property of the human farnesyltransferase alpha-subunit
Title: Exploring the putative self-binding property of the human farnesyltransferase alpha-subunit.
our findings identify Geranylgeranyl transferase 1 as a key regulator of human airway smooth muscle cell viability
Title: Geranylgeranyl transferase 1 modulates autophagy and apoptosis in human airway smooth muscle.
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.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study.
FTase, via its tubulin-association, is a critical upstream regulator of HDAC6 activity
Title: The protein farnesyltransferase regulates HDAC6 activity in a microtubule-dependent manner.
Results suggest that all peptide substrates adopt a common binding mode in the protein farnesyltransferase and geranylgeranyltransferase active site.
Title: Crystallographic analysis of CaaX prenyltransferases complexed with substrates defines rules of protein substrate selectivity.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of farnesyltransferase, CAAX box, alpha (FNTA) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Geranylgeranyltransferase-1 modulates both p24CA release and intracellular Gag in TNF-alpha-stimulated U1 cells	PubMed
capsid	gag	Geranylgeranyltransferase-1 modulates both p24CA release and intracellular Gag in TNF-alpha-stimulated U1 cells	PubMed

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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

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

RH68982 (e-PCR)
- UniSTS:91779

D8S1675 (e-PCR)
- UniSTS:9626

D8S1675 (e-PCR)
- UniSTS:9627

RH46039 (e-PCR)
- UniSTS:87201

GDB:335751 (e-PCR)
- UniSTS:156601

RH122835 (e-PCR)
- UniSTS:135133

RH27289 (e-PCR)
- UniSTS:87023

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to CAAX-protein geranylgeranyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables Rab geranylgeranyltransferase activity	IEA Inferred from Electronic Annotation more info
enables alpha-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular adaptor activity	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to protein farnesyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to protein farnesyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein farnesyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein geranylgeranyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables receptor tyrosine kinase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in positive regulation of Rac protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of deacetylase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tubulin deacetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein farnesylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein farnesylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein geranylgeranylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein geranylgeranylation	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal muscle acetylcholine-gated channel clustering	IEA Inferred from Electronic Annotation more info
involved_in transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of CAAX-protein geranylgeranyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of CAAX-protein geranylgeranyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of CAAX-protein geranylgeranyltransferase complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
part_of microtubule associated complex	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
part_of protein farnesyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of protein farnesyltransferase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha

Names: FTase-alpha; GGTase-I-alpha; farnesyl-protein transferase alpha-subunit; farnesyltransferase, CAAX box, alpha; protein prenyltransferase alpha subunit repeat containing 2; ras proteins prenyltransferase subunit alpha; type I protein geranyl-geranyltransferase alpha subunit

NP_002018.1

EC 2.5.1.58

EC 2.5.1.59

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_002027.3 → NP_002018.1 protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha

See identical proteins and their annotated locations for NP_002018.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.

Source sequence(s)

BC084566, BI913631

Consensus CDS

CCDS6140.1

UniProtKB/Swiss-Prot

A6NJW0, P49354, Q53XJ9, Q9UDC1

Related

ENSP00000303423.3, ENST00000302279.8

Conserved Domains (1) summary

PLN02789
Location:64 → 365

PLN02789; farnesyltranstransferase

RNA

NR_033698.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC084566, BI913631, BM686906

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

43056323..43085785

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

43325268..43354718

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001018676.1: Suppressed sequence

Description

NM_001018676.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_001018677.1: Suppressed sequence

Description

NM_001018677.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.