Human Gene CAMTA1 (ENST00000700416.1) from GENCODE V44
  Description: calmodulin binding transcription activator 1 (from HGNC CAMTA1)
RefSeq Summary (NR_146203): The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments.
Gencode Transcript: ENST00000700416.1
Gencode Gene: ENSG00000171735.21
Transcript (Including UTRs)
   Position: hg38 chr1:6,785,503-6,888,183 Size: 102,681 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg38 chr1:6,785,531-6,886,257 Size: 100,727 Coding Exon Count: 4 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:6,785,503-6,888,183)mRNA (may differ from genome)Protein (83 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsHGNCMGI
PubMedUniProtKBWikipedia

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: CAMTA1
Diseases sorted by gene-association score: cerebellar ataxia, nonprogressive, with mental retardation* (1350), epithelioid hemangioendothelioma* (379), hemangioendothelioma (28), vascular cancer (18), histiocytoid hemangioma (16), proliferative fasciitis (16), cardiovascular cancer (12), chromosome 1p32-p31 deletion syndrome (12), conventional angiosarcoma (11), liver angiosarcoma (9), neuroblastoma (6), pseudosarcomatous fibromatosis (5), intellectual disability (2)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.69 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 250.40 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 -4.5028-0.161 Picture PostScript Text
3' UTR -529.901926-0.275 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.

-  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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  AB020640 - Homo sapiens KIAA0833 mRNA for KIAA0833 protein.
BC151835 - Homo sapiens calmodulin binding transcription activator 1, mRNA (cDNA clone MGC:166913 IMAGE:8860115), complete cds.
AB384005 - Synthetic construct DNA, clone: pF1KSDA0833, Homo sapiens CAMTA1 gene for calmodulin-binding transcription activator 1, complete cds, without stop codon, in Flexi system.
BC116457 - Homo sapiens calmodulin binding transcription activator 1, mRNA (cDNA clone IMAGE:6501401), complete cds.
AY037153 - Homo sapiens hypothetical protein SB141 mRNA, complete cds.
AF086286 - Homo sapiens full length insert cDNA clone ZD47C12.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A8V8TQX1, BC116457, uc316egc.1
UCSC ID: ENST00000700416.1
RefSeq Accession: NR_146203

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