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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:42,911,442-42,940,932)mRNA (may differ from genome)Protein (379 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: FNTA_HUMAN
DESCRIPTION: RecName: Full=Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha; EC=2.5.1.58; EC=2.5.1.59; 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

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.96 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 872.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.4048-0.383 Picture PostScript Text
3' UTR -138.40507-0.273 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002088 - Prenyl_trans_a
IPR008940 - Prenyltransferase

Pfam Domains:
PF01239 - Protein prenyltransferase alpha subunit repeat

SCOP Domains:
48439 - Protein prenylyltransferase
48452 - TPR-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1JCQ
- X-ray MuPIT

1LD7
- X-ray MuPIT

1LD8
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
1MZC - X-ray MuPIT 1S63 - X-ray MuPIT 1SA4 - X-ray MuPIT
1TN6 - X-ray MuPIT 2F0Y - X-ray MuPIT 2H6F - X-ray MuPIT
2H6G - X-ray MuPIT 2H6H - X-ray MuPIT 2H6I - X-ray MuPIT
2IEJ - X-ray MuPIT 3E37 - X-ray


ModBase Predicted Comparative 3D Structure on P49354
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004659 prenyltransferase activity
GO:0004660 protein farnesyltransferase activity
GO:0004661 protein geranylgeranyltransferase activity
GO:0004662 CAAX-protein geranylgeranyltransferase activity
GO:0004663 Rab geranylgeranyltransferase activity
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0008318 protein prenyltransferase activity
GO:0016740 transferase activity
GO:0030548 acetylcholine receptor regulator activity
GO:0030971 receptor tyrosine kinase binding
GO:0043014 alpha-tubulin binding

Biological Process:
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007528 neuromuscular junction development
GO:0018342 protein prenylation
GO:0018343 protein farnesylation
GO:0018344 protein geranylgeranylation
GO:0045213 neurotransmitter receptor metabolic process
GO:0071340 skeletal muscle acetylcholine-gated channel clustering
GO:0090044 positive regulation of tubulin deacetylation
GO:0090045 positive regulation of deacetylase activity
GO:0099601 regulation of neurotransmitter receptor activity

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005875 microtubule associated complex
GO:0005886 plasma membrane
GO:0005953 CAAX-protein geranylgeranyltransferase complex
GO:0005965 protein farnesyltransferase complex


-  Descriptions from all associated GenBank mRNAs
  BC037295 - Homo sapiens farnesyltransferase, CAAX box, alpha, mRNA (cDNA clone IMAGE:4798668), with apparent retained intron.
AK292121 - Homo sapiens cDNA FLJ77360 complete cds, highly similar to Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), mRNA.
L00634 - Human farnesyl-protein transferase alpha-subunit mRNA, complete cds.
BC084566 - Homo sapiens farnesyltransferase, CAAX box, alpha, mRNA (cDNA clone MGC:99680 IMAGE:6423445), complete cds.
L10413 - Human farnesyltransferase alpha-subunit mRNA, complete cds.
AB590505 - Synthetic construct DNA, clone: pFN21AE1859, Homo sapiens FNTA gene for farnesyltransferase, CAAX box, alpha, without stop codon, in Flexi system.
KJ891191 - Synthetic construct Homo sapiens clone ccsbBroadEn_00585 FNTA gene, encodes complete protein.
BT009854 - Homo sapiens farnesyltransferase, CAAX box, alpha mRNA, complete cds.
BC017029 - Homo sapiens farnesyltransferase, CAAX box, alpha, mRNA (cDNA clone IMAGE:3850453), partial cds.
KJ905747 - Synthetic construct Homo sapiens clone ccsbBroadEn_15417 FNTA gene, encodes complete protein.
AK123002 - Homo sapiens cDNA FLJ16794 fis, clone TBAES2007504, highly similar to Protein farnesyltransferase/geranylgeranyltransferase type I alpha subunit (EC 2.5.1.58).
AB209689 - Homo sapiens mRNA for farnesyltransferase, CAAX box, alpha variant protein.
BX648381 - Homo sapiens mRNA; cDNA DKFZp686B10205 (from clone DKFZp686B10205).
AK091717 - Homo sapiens cDNA FLJ34398 fis, clone HCHON2001214, highly similar to PROTEIN FARNESYLTRANSFERASE ALPHA SUBUNIT (EC 2.5.1.-).
JD067015 - Sequence 48039 from Patent EP1572962.
JD265166 - Sequence 246190 from Patent EP1572962.
JD324217 - Sequence 305241 from Patent EP1572962.
JD224215 - Sequence 205239 from Patent EP1572962.
JD042570 - Sequence 23594 from Patent EP1572962.
JD267945 - Sequence 248969 from Patent EP1572962.
JD271795 - Sequence 252819 from Patent EP1572962.
JD140489 - Sequence 121513 from Patent EP1572962.
JD294760 - Sequence 275784 from Patent EP1572962.
JD294761 - Sequence 275785 from Patent EP1572962.
JD410279 - Sequence 391303 from Patent EP1572962.
JD068690 - Sequence 49714 from Patent EP1572962.
JD251402 - Sequence 232426 from Patent EP1572962.
JD513207 - Sequence 494231 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P49354 (Reactome details) participates in the following event(s):

R-HSA-201640 Caspase-mediated cleavage of farnesyltransferase/geranyl- geranyltransferase subunit alpha
R-HSA-2530501 FNTA:FNTB transfers FARN to GNGT1
R-HSA-111465 Apoptotic cleavage of cellular proteins
R-HSA-75153 Apoptotic execution phase
R-HSA-109581 Apoptosis
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-5357801 Programmed Cell Death
R-HSA-2514856 The phototransduction cascade
R-HSA-2187338 Visual phototransduction
R-HSA-418594 G alpha (i) signalling events
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A6NJW0, FNTA_HUMAN, NM_002027, NP_002018, P49354, Q53XJ9, Q9UDC1
UCSC ID: uc003xps.3
RefSeq Accession: NM_002027
Protein: P49354 (aka FNTA_HUMAN)
CCDS: CCDS6140.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002027.2
exon count: 9CDS single in 3' UTR: no RNA size: 1710
ORF size: 1140CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2311.00frame shift in genome: no % Coverage: 99.12
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.