CAMTA1 - calmodulin binding transcription activator 1 Gene

Also Known as CECBA; CANPMR

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23261

About CAMTA1

Cytogenetic location: 1p36.31-p36.23 Genomic coordinates (GRCh38): 1:6,785,454-7,769,706 (from NCBI)

This gene has 34 transcripts (splice variants), 215 orthologues, 1 paralogue and is associated with 92 phenotypes. Ubiquitous expression in brain (RPKM 5.0), adrenal (RPKM 1.5) and 24 other tissues.

Summary

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]

CAMTA1 Products (24)

mRNA	Protein	Name
NM_001195563.2	NP_001182492.1	calmodulin-binding transcription activator 1 isoform b
NM_001242701.2	NP_001229630.1	calmodulin-binding transcription activator 1 isoform c
NM_001349608.2	NP_001336537.1	calmodulin-binding transcription activator 1 isoform d
NM_001349609.2	NP_001336538.1	calmodulin-binding transcription activator 1 isoform e
NM_001349610.2	NP_001336539.1	calmodulin-binding transcription activator 1 isoform f
NM_001349612.2	NP_001336541.1	calmodulin-binding transcription activator 1 isoform g
NM_001349613.1	NP_001336542.1	calmodulin-binding transcription activator 1 isoform h
NM_001349614.1	NP_001336543.1	calmodulin-binding transcription activator 1 isoform i
NM_001349615.2	NP_001336544.1	calmodulin-binding transcription activator 1 isoform i
NM_001349616.2	NP_001336545.1	calmodulin-binding transcription activator 1 isoform j
NM_001349617.1	NP_001336546.1	calmodulin-binding transcription activator 1 isoform k
NM_001349618.2	NP_001336547.1	calmodulin-binding transcription activator 1 isoform k
NM_001349619.2	NP_001336548.1	calmodulin-binding transcription activator 1 isoform l
NM_001349620.1	NP_001336549.1	calmodulin-binding transcription activator 1 isoform l
NM_001349621.1	NP_001336550.1	calmodulin-binding transcription activator 1 isoform m
NM_001349622.2	NP_001336551.1	calmodulin-binding transcription activator 1 isoform m
NM_001349623.1	NP_001336552.1	calmodulin-binding transcription activator 1 isoform n
NM_001349624.3	NP_001336553.1	calmodulin-binding transcription activator 1 isoform n
NM_001349625.2	NP_001336554.1	calmodulin-binding transcription activator 1 isoform o
NM_001349626.2	NP_001336555.1	calmodulin-binding transcription activator 1 isoform o
NM_001349627.2	NP_001336556.1	calmodulin-binding transcription activator 1 isoform p
NM_001410737.1	NP_001397666.1	calmodulin-binding transcription activator 1 isoform q
NM_001410738.1	NP_001397667.1	calmodulin-binding transcription activator 1 isoform r
NM_015215.4	NP_056030.1	calmodulin-binding transcription activator 1 isoform a

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Verweise	Source
involved in positive regulation of calcineurin-NFAT signaling cascade	IMP IMP: Inferred from mutant phenotype	23853098	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CAMTA1 Protein Structure

CG-1

TIG

0
300
600
900
1200
1500
1673 a.a.

Protein Preferred Names	Protein Names
calmodulin-binding transcription activator 1

Related Diseases

Diseases	Alias
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	CECBA Cerebellar Ataxia, Nonprogressive, With Mental Retardation Canpmr Nonprogressive Cerebellar Ataxia With Mental Retardation Non-Progressive Cerebellar Ataxia With Intellectual Disability Ataxia, Cerebellar, Nonprogressive, With Mental Retardation
Epithelioid Hemangioendothelioma	Hemangioendothelioma Epithelioid Epithelioid Hemangioendothelioma, Malignant
Hemangioendothelioma
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Vascular Cancer	Blood Vessel Tumors Malignant Vascular Neoplasm Renal Vein Leiomyosarcoma Vascular Neoplasms Blood Vessel Neoplasm Blood Vessel Tumor Blood Vessel Tumour Disorder Haemangiomatous Tumour Leiomyosarcoma Of The Renal Vein Malignant Great Vessel Tumor Malignant Tumor Of Pulmonary Artery Malignant Tumor Of Pulmonary Vein Malignant Vascular Tumor Neoplasm Of Great Vessel Pulmonary Artery Malignant Neoplasm Pulmonary Vein Malignant Neoplasm Vascular Tissue Neoplasm Vascular Tumors Blood Vessel Cancer Neoplasms, Vascular Tissue Malignant Neoplasm Of Great Vessels
Malignant Epithelioid Hemangioendothelioma	Epithelioid Hemangioendothelioma, Malignant
Histiocytoid Hemangioma	Angiolymphoid Hyperplasia With Eosinophilia Epithelioid Haemangioma Epithelioid Hemangioma
Choroid Plexus Meningioma	Choroid Meningioma Meningioma Of The Choroid Plexus
Malignant Hemangioma
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Sclerosing Hepatic Carcinoma	Sclerosing Hepatocellular Carcinoma
Brain Malformations With Or Without Urinary Tract Defects	Chromosome 1p32-P31 Deletion Syndrome Nfia-Related Disorder Chromosome 1, Monosomy 1p32 BRMUTD 1p31p32 Microdeletion Syndrome Nfia Haploinsufficiency Del(1)(P31p32) Monosomy 1p31p32 Nfia-Related Disorders
Mediastinal Mesenchymal Tumor	Mediastinal Mesenchymal Tumour Soft Tissue Tumor Of Mediastinum Soft Tissue Tumour Of Mediastinum
Proliferative Fasciitis
Liver Angiosarcoma	Angiosarcoma Of Liver Angiosarcoma Of The Liver Hemangiosarcoma Of The Liver Primary Angiosarcoma Of Liver Kupffer Cell Sarcoma Of Liver Kupffer Cell Sarcoma Of Unspecified Site
Conventional Angiosarcoma
Eccrine Acrospiroma	Acrospiroma Poroma Eccrine Hidradenoma Eccrine Hidradenoma Of Skin Hidradenoma Adenoma, Sweat Gland Benign Neoplasm Of Sweat Gland Eccrine Poroma
Childhood Angiosarcoma	Paediatric Angiosarcoma Paediatric Hemangiosarcoma Pediatric Angiosarcoma Pediatric Hemangiosarcoma
Rapidly Involuting Congenital Hemangioma	Rich
Oligodendroglioma	Oligodendroglial Neoplasm Oligodendroglial Tumor Oligodendroglial Tumors Well Differentiated Oligodendroglioma
Eccrine Sweat Gland Neoplasm	Eccrine Skin Neoplasm Eccrine Tumor Eccrine Neoplasm Malignant Eccrine Neoplasm
Eccrine Porocarcinoma	Porocarcinoma Eccrine Porocarcinoma Of Skin Malignant Eccrine Poroma
Eccrine Sweat Gland Cancer	Malignant Eccrine Skin Neoplasm Malignant Eccrine Tumor
Dystonia 11, Myoclonic	Myoclonic Dystonia Myoclonus-Dystonia Syndrome DYT11 Myoclonic Dystonia 11 Alcohol-Responsive Dystonia Myoclonus, Hereditary Essential Dystonia-11, Myoclonic Myoclonus-Dystonia Dystonia 11 Hereditary Essential Myoclonus Dystonia, Alcohol-Responsive Dyt-Sgce Dystonia, Alcohol Responsive Dystonia-11 Dystonia, Myoclonic Dystonia, Myoclonic, Type 11
Angiosarcoma	Hemangiosarcoma
Spindle Cell Hemangioma	Sch Spindle Cell Hemangioendothelioma
Hobnail Hemangioma
Cardiovascular Organ Benign Neoplasm
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01874	CAMTA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21830	Camta1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28347	Camta1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CAMTA1	VGNC	VGNC:80154
Rattus norvegicus	CAMTA1	RGD	RGD:1562703
Bos taurus	CAMTA1	VGNC	VGNC:26732
Canis familiaris	CAMTA1	VGNC	VGNC:38692
Macaca mulatta	CAMTA1	VGNC	VGNC:106333
Mus musculus	CAMTA1	MGD	MGI:2140230
Others	CAMTA1	NCBI