Human Gene CAMTA1 (ENST00000303635.12) from GENCODE V44
  Description: Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. (from RefSeq NM_015215)
RefSeq Summary (NM_015215): 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].
Gencode Transcript: ENST00000303635.12
Gencode Gene: ENSG00000171735.21
Transcript (Including UTRs)
   Position: hg38 chr1:6,785,454-7,769,706 Size: 984,253 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg38 chr1:6,785,531-7,766,491 Size: 980,961 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:6,785,454-7,769,706)mRNA (may differ from genome)Protein (1673 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Calmodulin-binding transcription activator 1;
FUNCTION: Transcriptional activator. May act as a tumor suppressor.
SUBUNIT: May interact with calmodulin (Potential).
SUBCELLULAR LOCATION: Nucleus (Probable). Cytoplasm.
TISSUE SPECIFICITY: Normally expressed in non-neoplastic adult central nervous system tissues: detected in whole brain, cerebellum, brain cortex, occipital lobe, frontal lobe, temporal lobe, putamen. Expression levels are low in oligodendroglial tumors, and are reduced by half in oligodendroglioma and astrocytoma cases with 1p loss of heterozygosity. Detected in neuroblastic-type cultured neuroblastoma cells. Expressed in heart and kidney.
INDUCTION: Detected at low levels at interphase and in resting cells. Up-regulated during S phase and mitosis. Levels decrease at the end of mitosis.
MISCELLANEOUS: A very small segment of 1p36 located within CAMTA1 is deleted in all oligodendroglial tumors with 1p LOH. This minimal deleted region (MDR) also overlaps the neuroblastoma 1p36 MDR. CAMTA1 shows no evidence of inactivation by somatic mutations.
SIMILARITY: Belongs to the CAMTA family.
SIMILARITY: Contains 3 ANK repeats.
SIMILARITY: Contains 1 CG-1 DNA-binding domain.
SIMILARITY: Contains 1 IPT/TIG domain.
SIMILARITY: Contains 3 IQ domains.
SEQUENCE CAUTION: Sequence=AAL39006.1; Type=Erroneous initiation; Sequence=BAA74856.3; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAW71580.1; Type=Erroneous gene model prediction;

-  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 -36.1077-0.469 Picture PostScript Text
3' UTR -773.003215-0.240 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
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR005559 - CG-1_dom
IPR013783 - Ig-like_fold
IPR014756 - Ig_E-set
IPR002909 - IPT_TIG_rcpt
IPR000048 - IQ_motif_EF-hand-BS

Pfam Domains:
PF03859 - CG-1 domain
PF00612 - IQ calmodulin-binding motif
PF01833 - IPT/TIG domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CXK - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q9Y6Y1
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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0035307 positive regulation of protein dephosphorylation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050885 neuromuscular process controlling balance
GO:0070886 positive regulation of calcineurin-NFAT signaling cascade

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol

-  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.
AK302088 - Homo sapiens cDNA FLJ58640 complete cds, highly similar to Calmodulin-binding transcription activator 1.
AK309727 - Homo sapiens cDNA, FLJ99768.
BC051341 - Homo sapiens calmodulin binding transcription activator 1, mRNA (cDNA clone IMAGE:6340989), partial cds.
AF111804 - Homo sapiens MSTP023 (MST023) mRNA, complete cds.
AY349360 - Homo sapiens MSTP023 mRNA, complete cds; alternatively spliced.
BC038183 - Homo sapiens calmodulin binding transcription activator 1, mRNA (cDNA clone IMAGE:5285208).
JD103638 - Sequence 84662 from Patent EP1572962.
JD184979 - Sequence 166003 from Patent EP1572962.
JD091677 - Sequence 72701 from Patent EP1572962.
JD434758 - Sequence 415782 from Patent EP1572962.
JD549847 - Sequence 530871 from Patent EP1572962.
JD233611 - Sequence 214635 from Patent EP1572962.
JD490494 - Sequence 471518 from Patent EP1572962.
JD203147 - Sequence 184171 from Patent EP1572962.
JD207766 - Sequence 188790 from Patent EP1572962.
JD260121 - Sequence 241145 from Patent EP1572962.
JD443858 - Sequence 424882 from Patent EP1572962.
JD360102 - Sequence 341126 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A7MBM4, CMTA1_HUMAN, ENST00000303635.1, ENST00000303635.10, ENST00000303635.11, ENST00000303635.2, ENST00000303635.3, ENST00000303635.4, ENST00000303635.5, ENST00000303635.6, ENST00000303635.7, ENST00000303635.8, ENST00000303635.9, KIAA0833, MSTP023, NM_015215, Q5VUE1, Q6V701, Q8WYI3, Q96S92, Q9Y6Y1, uc001aoi.1, uc001aoi.2, uc001aoi.3, uc001aoi.4
UCSC ID: ENST00000303635.12
RefSeq Accession: NM_015215
Protein: Q9Y6Y1 (aka CMTA1_HUMAN)
CCDS: CCDS30576.1

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