Human Gene TOR4A (uc004cmn.3)
  Description: Homo sapiens torsin family 4, member A (TOR4A), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr9:140,172,280-140,177,093 Size: 4,814 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr9:140,173,142-140,174,413 Size: 1,272 Coding Exon Count: 1 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:140,172,280-140,177,093)mRNA (may differ from genome)Protein (423 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
PubMedReactomeTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TOR4A_HUMAN
DESCRIPTION: RecName: Full=Torsin-4A; AltName: Full=Torsin family 4 member A;
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential).
SIMILARITY: Belongs to the clpA/clpB family. Torsin subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 14.51 RPKM in Spleen
Total median expression: 170.52 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 -60.80117-0.520 Picture PostScript Text
3' UTR -1323.372680-0.494 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
IPR003593 - AAA+_ATPase
IPR010448 - Torsin

Pfam Domains:
PF06309 - Torsin

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q9NXH8
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding

Biological Process:
GO:0002576 platelet degranulation

Cellular Component:
GO:0005576 extracellular region
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031093 platelet alpha granule lumen


-  Descriptions from all associated GenBank mRNAs
  LF205575 - JP 2014500723-A/13078: Polycomb-Associated Non-Coding RNAs.
JD274377 - Sequence 255401 from Patent EP1572962.
AK000252 - Homo sapiens cDNA FLJ20245 fis, clone COLF6454.
BC169268 - Synthetic construct Homo sapiens clone IMAGE:9093398 hypothetical protein LOC54863 (C9orf167) gene, partial cds.
BC169269 - Synthetic construct Homo sapiens clone IMAGE:9093399 hypothetical protein LOC54863 (C9orf167) gene, partial cds.
BC169270 - Synthetic construct Homo sapiens clone IMAGE:9093400 hypothetical protein LOC54863 (C9orf167) gene, partial cds.
AK000392 - Homo sapiens cDNA FLJ20385 fis, clone KAIA4085.
BC169271 - Synthetic construct Homo sapiens clone IMAGE:9093396 hypothetical protein LOC54863 (C9orf167) gene, partial cds.
JD323639 - Sequence 304663 from Patent EP1572962.
JD278554 - Sequence 259578 from Patent EP1572962.
JD078609 - Sequence 59633 from Patent EP1572962.
JD493207 - Sequence 474231 from Patent EP1572962.
JD334429 - Sequence 315453 from Patent EP1572962.
JD106986 - Sequence 88010 from Patent EP1572962.
JD527297 - Sequence 508321 from Patent EP1572962.
AK023361 - Homo sapiens cDNA FLJ13299 fis, clone OVARC1001339.
JD559211 - Sequence 540235 from Patent EP1572962.
JD544171 - Sequence 525195 from Patent EP1572962.
JD115897 - Sequence 96921 from Patent EP1572962.
JD227961 - Sequence 208985 from Patent EP1572962.
JD288004 - Sequence 269028 from Patent EP1572962.
JD514858 - Sequence 495882 from Patent EP1572962.
JD318662 - Sequence 299686 from Patent EP1572962.
JD141717 - Sequence 122741 from Patent EP1572962.
JD515072 - Sequence 496096 from Patent EP1572962.
JD146184 - Sequence 127208 from Patent EP1572962.
JD477127 - Sequence 458151 from Patent EP1572962.
JD318769 - Sequence 299793 from Patent EP1572962.
JD127012 - Sequence 108036 from Patent EP1572962.
JD558993 - Sequence 540017 from Patent EP1572962.
JD335820 - Sequence 316844 from Patent EP1572962.
JD523219 - Sequence 504243 from Patent EP1572962.
JD485463 - Sequence 466487 from Patent EP1572962.
JD406560 - Sequence 387584 from Patent EP1572962.
JD234815 - Sequence 215839 from Patent EP1572962.
JD464981 - Sequence 446005 from Patent EP1572962.
JD227192 - Sequence 208216 from Patent EP1572962.
JD416400 - Sequence 397424 from Patent EP1572962.
JD394408 - Sequence 375432 from Patent EP1572962.
JD196977 - Sequence 178001 from Patent EP1572962.
JD040982 - Sequence 22006 from Patent EP1572962.
JD384238 - Sequence 365262 from Patent EP1572962.
JD214633 - Sequence 195657 from Patent EP1572962.
JD204513 - Sequence 185537 from Patent EP1572962.
JD460908 - Sequence 441932 from Patent EP1572962.
JD345977 - Sequence 327001 from Patent EP1572962.
JD213581 - Sequence 194605 from Patent EP1572962.
JD233793 - Sequence 214817 from Patent EP1572962.
JD207630 - Sequence 188654 from Patent EP1572962.
JD341503 - Sequence 322527 from Patent EP1572962.
JD212098 - Sequence 193122 from Patent EP1572962.
MA441152 - JP 2018138019-A/13078: Polycomb-Associated Non-Coding RNAs.

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

Protein Q9NXH8 (Reactome details) participates in the following event(s):

R-HSA-481007 Exocytosis of platelet alpha granule contents
R-HSA-114608 Platelet degranulation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: A2BFA4, C9orf167, NM_017723, NP_060193, Q9NXH8, TOR4A_HUMAN
UCSC ID: uc004cmn.3
RefSeq Accession: NM_017723
Protein: Q9NXH8 (aka TOR4A_HUMAN)
CCDS: CCDS7041.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017723.2
exon count: 2CDS single in 3' UTR: no RNA size: 4069
ORF size: 1272CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2732.50frame shift in genome: no % Coverage: 100.00
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.