BRAT1 - BRCA1 associated ATM activator 1 Gene

Also Known as BAAT1; RMFSL; NEDCAS; C7orf27

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 221927

About BRAT1

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:2,537,810-2,555,524 (from NCBI)

This gene has 6 transcripts (splice variants), 204 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 8.5), spleen (RPKM 7.2) and 25 other tissues.

Summary

The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast Cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012]

BRAT1 Products (3)

mRNA	Protein	Name
NM_001350626.2	NP_001337555.1	BRCA1-associated ATM activator 1 isoform 1
NM_001350627.2	NP_001337556.1	BRCA1-associated ATM activator 1 isoform 3
NM_152743.4	NP_689956.2	BRCA1-associated ATM activator 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16452482	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IMP IMP: Inferred from mutant phenotype	25631046	GOA
involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	25070371	GOA
involved in cell migration	IMP IMP: Inferred from mutant phenotype	25070371	GOA
involved in cell population proliferation	IMP IMP: Inferred from mutant phenotype	25070371	GOA
involved in glucose metabolic process	IMP IMP: Inferred from mutant phenotype	25070371	GOA
involved in mitochondrion localization	IMP IMP: Inferred from mutant phenotype	25070371	GOA
involved in positive regulation of cell growth	IMP IMP: Inferred from mutant phenotype	25070371	GOA
involved in positive regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	22977523	GOA
involved in response to ionizing radiation	IMP IMP: Inferred from mutant phenotype	16452482	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	25631046	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16452482	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

BRAT1 Protein Structure

HEAT

0
200
400
600
821 a.a.

Protein Preferred Names	Protein Names
BRCA1-associated ATM activator 1	BRCA1-associated protein required for ATM activation protein 1

BRAT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BRAT1	Q6PJG6	ATM	Homo sapiens	Q13315	Anti Bait CoIP	16452482
Intra	BRAT1	Q6PJG6	ATM	Homo sapiens	Q13315	Confocal	16452482
Intra	BRAT1	Q6PJG6	USHBP1	Homo sapiens	Q8N6Y0	Validated Y2H	32296183
Intra	BRAT1	Q6PJG6	ENKD1	Homo sapiens	Q9H0I2	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

BRAT1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82549	BRAT1 Antibody (YA2294)	WB, ICC/IF, IP	Human
HY-P82549A	BRAT1 Antibody (YA2294)(PBS only)	WB, ICC/IF, IP	Human
HY-P86288	BRAT1 Antibody (YA5980)	WB, ICC/IF, FC, IP	Human

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	NEDCAS Neurodevelopmental Disorder With Cerebellar Atrophy, With/Without Seizures
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	RMFSL Rigidity And Multifocal Seizure, Lethal Neonatal Syndrome
Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome	Lethal Neonatal Rigidity-Multifocal Seizure Syndrome
Hypertonia
Hyperekplexia 4	HKPX4
Syndromic X-Linked Intellectual Disability Hedera Type	Mental Retardation, X-Linked, Syndromic, Hedera Type Mrxe Mrxsh
Developmental And Epileptic Encephalopathy 94	Epileptic Encephalopathy, Childhood-Onset Eeoc DEE94 Childhood Onset Epileptic Encephalopathy Encephalopathy, Epileptic, Childhood-Onset
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome EPRPDC Re-Ped-Wc Epilepsy, Rolandic, With Proxysmal Exercise-Induce Dystonia And Writer'S Cramp Epilepsy, Rolandic, With Paroxysmal Exercise-Induce Dystonia And Writer'S Cramp Rolandic Epilepsy With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp Rolandic-Type Focal Motor Epilepsy And Exercise-Induced Dystonia Rolandic Epilepsy Exercise-Induced Dystonia Epilepsy, Rolandic With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Schindler Disease, Type I	Schindler Disease Type 1 Alpha-N-Acetylgalactosaminidase Deficiency Type 1 Schindler Disease Type 3 Alpha-N-Acetylgalactosaminidase Deficiency Type 3 Naga Deficiency Type 3 Neuroaxonal Dystrophy, Schindler Type Naga Deficiency Type 1 Alpha-N-Acetylgalactosaminidase Deficiency, Type I Naga Deficiency, Type I Schindler Disease, Type Iii N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii Alpha-N-Acetylgalactosaminidase Deficiency, Type 1 Naga Deficiency, Type 1 Schindler Disease Type I Schindler Disease SCHIND Schindler Disease, Type 3 Schindler Disease, Type 1
Alacrima, Achalasia, And Mental Retardation Syndrome	AAMR Alacrima, Achalasia, And Intellectual Disability Syndrome Alacrima, Achalasia, And Impaired Intellectual Development Syndrome Intellectual Disability
Astereognosia	Somatosensory Agnosia Tactile Agnosia
Cold-Induced Sweating Syndrome	Crisponi Syndrome Sohar-Crisponi Syndrome Ciss Cntf Receptor-Related Disorders Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death Sweating Syndrome, Cold-Induced
Charcot-Marie-Tooth Disease X-Linked Recessive 4	Cmt4x Cmtx4 Cowchock Syndrome X-Linked Charcot-Marie-Tooth Disease Type 4 Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Nadmr Namsd
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Jankovic-Rivera Syndrome SMAPME Sma-Pme Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome Hereditary Myoclonus With Progressive Distal Muscular Atrophy Jankovic Rivera Syndrome Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy Myoclonus Hereditary Progressive Distal Muscular Atrophy Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy
Myopathy, Myofibrillar, 8	Myofibrillar Myopathy 8 MFM8 Myopathy, Myofibrillar, Type 8
Myopathy, Myofibrillar, 7	Myofibrillar Myopathy 7 MFM7 Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome Myopathy, Myofibrillar, Type 7
Pitt-Hopkins Syndrome	PTHS Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea Pitt Hopkins Syndrome Phs Encephalopathy Severe Epileptic With Autonomic Dysfunction
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Pcwh Syndrome PCWH Neurologic Waardenburg-Shah Syndrome Waardenburg-Shah Syndrome, Neurologic Variant Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease Ws4 Plus Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease Waardenburg-Shah Syndrome Neurologic Variant
Mowat-Wilson Syndrome	MOWS Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease Hirschsprung Disease-Mental Retardation Syndrome Mowat-Wilson Syndrome Due To Monosomy 2q22 Hirschsprung Disease Mental Retardation Syndrome Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease Hirschsprung Disease - Intellectual Disability Syndrome Hirschsprung Disease Intellectual Disability Syndrome Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease Mws Hirschsprung Disease-Intellectual Disability Syndrome Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22) Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22 Mowat-Wilson Syndrome Due To 2q22 Microdeletion Mowat-Wilson Syndrome Due To Del(2)Q(22) Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
Familial Febrile Seizures	Familial Febrile Convulsions Feb Febrile Seizures, Familial
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01592	BRAT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	BRAT1	VGNC	VGNC:70362
Rattus norvegicus	BRAT1	RGD	RGD:1565146
Mus musculus	BRAT1	MGD	MGI:1891679
Felis catus	BRAT1	VGNC	VGNC:60164
Bos taurus	BRAT1	VGNC	VGNC:26553
Others	BRAT1	NCBI