Human Gene CAMTA1 (ENST00000557126.5) from GENCODE V44
Description: Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 3, mRNA. (from RefSeq NM_001242701) RefSeq Summary (NM_001242701): 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: ENST00000557126.5 Gencode Gene: ENSG00000171735.21 Transcript (Including UTRs) Position: hg38 chr1:6,785,491-6,887,865 Size: 102,375 Total Exon Count: 4 Strand: + Coding Region Position: hg38 chr1:6,785,531-6,887,725 Size: 102,195 Coding Exon Count: 4
ID:CMTA1_HUMAN 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;
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 Q9Y6Y1
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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.
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