Human Gene FNTA (uc003xps.3) Description and Page Index
Description: Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA. RefSeq Summary (NM_002027): 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]. Transcript (Including UTRs) Position: hg19 chr8:42,911,442-42,940,932 Size: 29,491 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr8:42,911,490-42,940,425 Size: 28,936 Coding Exon Count: 9
ID:FNTA_HUMAN DESCRIPTION: RecName: Full=Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha; EC=18.104.22.168; EC=22.214.171.124; AltName: Full=CAAX farnesyltransferase subunit alpha; AltName: Full=FTase-alpha; AltName: Full=Ras proteins prenyltransferase subunit alpha; AltName: Full=Type I protein geranyl-geranyltransferase subunit alpha; Short=GGTase-I-alpha; FUNCTION: Catalyzes the transfer of a farnesyl or geranyl-geranyl moiety from farnesyl or geranyl-geranyl pyrophosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. The alpha subunit is thought to participate in a stable complex with the substrate. The beta subunit binds the peptide substrate. Through RAC1 prenylation and activation may positively regulate neuromuscular junction development downstream of MUSK (By similarity). CATALYTIC ACTIVITY: Farnesyl diphosphate + protein-cysteine = S- farnesyl protein + diphosphate. CATALYTIC ACTIVITY: Geranylgeranyl diphosphate + protein-cysteine = S-geranylgeranyl-protein + diphosphate. ENZYME REGULATION: Activated by the AGRIN-induced phosphorylation which is mediated by MUSK (By similarity). SUBUNIT: Heterodimer of an alpha and a beta subunit. Interacts with MUSK; the interaction is direct and mediates AGRIN-induced phosphorylation of FNTA (By similarity). INTERACTION: P49356:FNTB; NbExp=7; IntAct=EBI-602336, EBI-602349; PTM: Phosphorylated. Phosphorylation is mediated by MUSK upon AGRIN stimulation and results in the activation of FNTA (By similarity). SIMILARITY: Belongs to the protein prenyltransferase subunit alpha family. SIMILARITY: Contains 5 PFTA repeats.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): FNTA CDC HuGE Published Literature: FNTA
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P49354
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.