2. Gene
  3. CAMTA1 - calmodulin binding transcription activator 1 Gene

CAMTA1 - calmodulin binding transcription activator 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：钙调蛋白结合转录激活因子 1

种属: Homo sapiens

同用名: CECBA; CANPMR

基因 ID: 23261 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质包含一个 CG1 DNA 结合结构域、一个转录因子免疫球蛋白结构域、锚蛋白重复序列和钙调蛋白结合 IQ 基序。编码的蛋白质被认为是一种转录因子，可能是一种肿瘤抑制因子。然而，有时会在该基因和 WWTR1 基因之间观察到易位事件，由此产生的 WWTR1-CAMTA1 癌蛋白导致上皮样血管内皮瘤，一种恶性血管癌。[RefSeq 提供，2017 年 3 月]

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 基因产物(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
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of calcineurin-NFAT signaling cascade IMP
IMP: 通过突变表型推断
23853098 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CAMTA1 蛋白结构

CG-1

CG-1: CG-1 domain (67 - 182)

TIG

TIG: IPT/TIG domain (873 - 952)

IQ

IQ: IQ calmodulin-binding motif (1571 - 1591)

IQ

IQ: IQ calmodulin-binding motif (1594 - 1608)

  • 0
  • 300
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  • 1500
  • 1673 a.a.
蛋白主名 其他名称

calmodulin-binding transcription activator 1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01874 CAMTA1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21830 Camta1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28347 Camta1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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