FNTB farnesyltransferase, CAAX box, subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: FNTBprovided by HGNC
Official Full Name: farnesyltransferase, CAAX box, subunit betaprovided by HGNC
Primary source: HGNC:HGNC:3785
See related: Ensembl:ENSG00000257365 MIM:134636; AllianceGenome:HGNC:3785
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: FPTB
Summary: Enables zinc ion binding activity. Contributes to protein farnesyltransferase activity. Involved in protein farnesylation. Part of microtubule associated complex and protein farnesyltransferase complex. Implicated in anxiety disorder. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 9.3), brain (RPKM 8.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q23.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (64986895..65062650)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (59191767..59267508)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (65453613..65529368)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Characterization of the promoter of the human farnesyltransferase beta subunit and the impact of the transcription factor OCT-1 on its expression.
Title: Characterization of the promoter of the human farnesyltransferase beta subunit and the impact of the transcription factor OCT-1 on its expression.
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.
The results of this study show that activation in Ras signaling cascade may be implicated in the METH-induced death signaling pathway in neuroblastoma SH-SY5Y cells.
Title: Farnesyltransferase inhibitor attenuates methamphetamine toxicity-induced Ras proteins activation and cell death in neuroblastoma SH-SY5Y cells.
Data show that protein farnesyltransferase (FTase) specificity can be "tuned" using a small number of active site contacts that play essential roles in discriminating against non-substrates in the wild-type enzyme.
Title: Expansion of protein farnesyltransferase specificity using "tunable" active site interactions: development of bioengineered prenylation pathways.
The level of FTase mRNA expression in cancer tissues is much higher than in normal tissues. FTase may play an important role in the genesis and development of PLC and may be one of the markers for the metastatic activity gained by liver tumor cells.
Title: Expression of farnesyltransferase in primary liver 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.
farnesyl:protein transferase and geranylgeranyl:protein transferase inhibitor combinations in preclinical models.
Title: Evaluation of farnesyl:protein transferase and geranylgeranyl:protein transferase inhibitor combinations in preclinical models.

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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

EBI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seventy-five genetic loci influencing the human red blood cell. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH48540 (e-PCR)
- UniSTS:78375

WI-18777 (e-PCR)
- UniSTS:50082

WI-9215 (e-PCR)
- UniSTS:31403

A003A45 (e-PCR)
- UniSTS:63716

Readthrough CHURC1-FNTB

Readthrough gene: CHURC1-FNTB, Included gene: CHURC1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein farnesylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
part_of microtubule associated complex	IDA Inferred from Direct Assay more info	PubMed
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 subunit beta

Names: CAAX farnesyltransferase subunit beta; FTase-beta; epididymis secretory sperm binding protein; farnesyltransferase, CAAX box, beta; ras proteins prenyltransferase subunit beta

NP_002019.1

EC 2.5.1.58

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_002028.4 → NP_002019.1 protein farnesyltransferase subunit beta

See identical proteins and their annotated locations for NP_002019.1

Status: VALIDATED

Source sequence(s)

AU122768, BC013574, BC020232

Consensus CDS

CCDS9769.1

UniProtKB/Swiss-Prot

B2RDX6, B4E1A0, P49356

UniProtKB/TrEMBL

A0A384MEJ5, Q86TX8

Related

ENSP00000246166.2, ENST00000246166.3

Conserved Domains (1) summary

cd02893
Location:75 → 373

FTase; Protein farnesyltransferase (FTase)_like proteins containing the protein prenyltransferase (PTase) domain, beta subunit (alpha 6 - alpha 6 barrel fold). FTases are a subgroup of PTase family of lipid-modifying enzymes. PTases catalyze the ...