Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BRAT1 Gene

protein-coding GIFtS: 47
GCID: GC07M002577

BRCA1-associated ATM activator 1

(Previous name: chromosome 7 open reading frame 27 )
(Previous symbols: C7orf27, BAAT1)

Explore 5 diseases affiliated with
BRAT1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
BRCA1-Associated ATM Activator 1¹ ²		MGC22916¹
BAAT1¹ ² ³		Chromosome 7 Open Reading Frame 27¹
C7orf27¹ ² ³		RMFSL²
BRCA1-Associated Protein Required For ATM Activation Protein 1² ³		HEAT Repeat-Containing Protein C7orf27²

External Ids:	HGNC: 21701¹	Entrez Gene: 221927²	Ensembl: ENSG00000106009⁷	OMIM: 614506⁵	UniProtKB: Q6PJG6³

Export aliases for BRAT1 gene to outside databases

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BRAT1:

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)

UniProtKB/Swiss-Prot: BRAT1_HUMAN, Q6PJG6

Function: Required for activation of ATM following ionizing radiation. May act by regulating dephosphorylation of ATM

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007819.17 NT_079592.2

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for BRAT1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): BRAT1 promoter sequence

Search SABiosciences Chromatin IP Primers for BRAT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BRAT1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p22.3 Ensembl cytogenetic band: 7p22.3 HGNC cytogenetic band: 7p22.3

BRAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRAT1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M002577: view genomic region (about GC identifiers)

Start:	2,577,511 bp from pter	End:	2,595,361 bp from pter
Size:	17,851 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 2,625,380-2,643,058

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BRAT1_HUMAN, Q6PJG6 (See protein sequence)

Recommended Name: BRCA1-associated ATM activator 1

Size: 821 amino acids; 88119 Da

Subunit: Interacts with BRCA1 and ATM

Subcellular location: Nucleus. Note=Present at double strand breaks (DSBs) following ionizing radiation treatment

Sequence caution: Sequence=BAB15772.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: A4D200 C9JY24 Q8IW85 Q8IZ43 Q8WVR8 Q96IV9 Q9H7J8 Q9UFA3

Alternative splicing: 3 isoforms: Q6PJG6-1 Q6PJG6-2 Q6PJG6-3 (No experimental confirmation available. Ref.5 (AAH40704) sequence is in conflict in position: 49:P->T)

Explore the universe of human proteins at neXtProt for BRAT1: NX_Q6PJG6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6PJG6

BRAT1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_689956.2

ENSEMBL proteins:

ENSP00000339637 ENSP00000409209

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: BRAT1 OriGene Protein Over-expression Lysate: BRAT1 OriGene Custom Protein Services for BRAT1
	GenScript Custom Purified and Recombinant Proteins Services for BRAT1
	Novus Biologicals BRAT1 Protein Novus Biologicals BRAT1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for BRAT1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	16452482

BRAT1 for ontologies About GeneDecksing

BRAT1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for BRAT1
	GenScript Custom Superior Antibodies Services for BRAT1
	Novus Biologicals BRAT1 Antibodies
	Search for Antibodies for BRAT1 at Abcam
	Uscn Antibodies for BRAT1
	ThermoFisher Antibodies for BRAT1

Assay Products for BRAT1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for BRAT1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for BRAT1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BRAT1 for domains About GeneDecksing

3 InterPro domains/families:

IPR000357 HEAT

IPR011989 ARM-like

IPR016024 ARM-type_fold

Graphical View of Domain Structure for InterPro Entry Q6PJG6

ProtoNet protein and cluster: Q6PJG6

UniProtKB/Swiss-Prot: BRAT1_HUMAN, Q6PJG6

Similarity: Contains 2 HEAT repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: BRAT1_HUMAN, Q6PJG6

Function: Required for activation of ATM following ionizing radiation. May act by regulating dephosphorylation of ATM

miRNA Products:		OriGene 3'-UTR Clone: BRAT1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BRAT1
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate BRAT1
		SwitchGear 3'UTR luciferase reporter plasmid: BRAT1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BRAT1 OriGene shRNA RFP: BRAT1 OriGene siRNA: BRAT1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BRAT1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for BRAT1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BRAT1 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BRAT1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: BRAT1 (NM_152743)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BRAT1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRAT1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for BRAT1
		Search LifeMap BioReagents cell lines for BRAT1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRAT1

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	16452482

BRAT1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for BRAT1:

Increased gamma-H2AX phosphory

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for BRAT1

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for BRAT1 (Q6PJG6³ ENSP00000339637⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818
SUMO2	ENSP00000405965⁴	STRING: ENSP00000405965

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0010212	response to ionizing radiation	IMP	16452482

BRAT1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BRAT1
Search CenterWatch for drugs/clinical trials and news about BRAT1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BRAT1 gene:

NM_152743.3

Unigene Cluster for BRAT1:

BRCA1-associated ATM activator 1

Hs.520623 [show with all ESTs]

Unigene Representative Sequence: NM_152743

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000340611(uc003smi.3) ENST00000493232 ENST00000467558 ENST00000469750(uc003smh.4 uc003smj.2)

ENST00000473879 ENST00000421712

miRNA Products:		OriGene 3'-UTR Clone: BRAT1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BRAT1
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate BRAT1
		SwitchGear 3'UTR luciferase reporter plasmid: BRAT1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BRAT1 OriGene shRNA RFP: BRAT1 OriGene siRNA: BRAT1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BRAT1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BRAT1 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BRAT1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: BRAT1 (NM_152743)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BRAT1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRAT1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BRAT1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat BRAT1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BRAT1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BRAT1

Additional cDNA sequence:

AL133088.1 BC007209.1 BC015632.2 BC023561.2

9 DOTS entries:

DT.91746684 DT.95319778 DT.95319768 DT.95319767 DT.101983036 DT.100791018 DT.100791016 DT.121111633

DT.97859408

24/208 AceView cDNA sequences (see all 208):

BU731056 BM931086 AI394324 BC007209 BX284041 AA078181 BQ427534 BM675122

BU556454 BC015632 BE303038 CR604410 NM_152743 BC023561 BE043101 BM694411

AW005320 AL525642 BI335238 BQ045151 AI275736 BM825687 BQ026094 CB216768

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for BRAT1 (see all 13) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	·	7c	·	7d	·	7e	^	8a	·	8b	·	8c	^	9	^	10a	·	10b	^	11	^	12a	·	12b	·	12c	^	13a	·	13b	^	14	^
SP1:									-		-																								-						-										-
SP2:									-		-																								-						-
SP3:																																									-
SP4:																													-		-				-						-
SP5:																																			-

ExUns:	15	^	16	^	17	^	18a	·	18b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for BRAT1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BRAT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCTTCTGTG

About this image
See BRAT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BRAT1

SOURCE GeneReport for Unigene cluster: Hs.520623

UniProtKB/Swiss-Prot: BRAT1_HUMAN, Q6PJG6

Tissue specificity: Ubiquitously expressed

SABiosciences Custom PCR Arrays for BRAT1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BRAT1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat BRAT1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BRAT1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BRAT1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRAT1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for BRAT1 gene from 5/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Brat1⁵ Baat1¹	BRCA1-associated ATM activator 1^{1, 5}	77.67(n)¹ 73.69(a)¹		5 (79.25 cM)⁵ 231841¹ NM_181066.2¹ NP_851411.1¹ 140705011⁵
chicken (Gallus gallus)	Aves	BRAT1¹	BRCA1-associated ATM activator 1	55.84(n) 49.2(a)		769893 XM_001233205.2 XP_001233206.2
lizard (Anolis carolinensis)	Reptilia	BRAT1⁶	--	48(a)	1 ↔ 1	GL343340.1(365437-375725)
zebrafish (Danio rerio)	Actinopterygii	brat1¹	BRCA1-associated ATM activator 1	47.01(n) 37.37(a)		678547 NM_001040305.1 NP_001035395.1
fruit fly (Drosophila melanogaster)	Insecta	CG7044⁶	--	14(a)	1 ↔ 1	3R(16923951-16927440)

ENSEMBL Gene Tree for BRAT1 (if available)
TreeFam Gene Tree for BRAT1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs145848308^1,2	--	2576970(+)	`AAACTC/GCTGGC`	1	--	ds500¹		0	--	--	--	--
rs149016184^1,2	--	2576979(+)	`GCCTTA/GAACAA`	1	--	ds500¹		0	--	--	--	--
rs112351257^1,2	--	2577005(+)	`CTCCCG/AAAGTG`	1	--	ds500¹		1		CSA	2
rs192655641^1,2	--	2577081(+)	`CCGGGC/TGGAGT`	1	--	ds500¹		0	--	--	--	--
rs183882535^1,2	--	2577207(+)	`AAAAAA/TATTAG`	1	--	ds500¹		0	--	--	--	--
rs189340255^1,2	--	2577248(+)	`AGCTAC/TTCGGG`	1	--	ds500¹		0	--	--	--	--
rs142054344^1,2	--	2577351(+)	`GAAACC/TCCATC`	1	--	ds500¹		0	--	--	--	--
rs181955459^1,2	--	2577377(+)	`ACAGAC/TAGATA`	1	--	ds500¹		0	--	--	--	--
rs185916558^1,2	--	2577476(+)	`TAACTC/GAAAAA`	1	--	ut3¹		0	--	--	--	--
rs145828184^1,2	--	2577484(+)	`AAAGGG/TTTAAA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for BRAT1 (2577511 - 2595361 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BRAT1: --
Human Gene Mutation Database (HGMD): BRAT1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BRAT1

DNA2.0 Custom Variant and Variant Library Synthesis for BRAT1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BRAT1 for disorders About GeneDecksing

OMIM gene information: 614506 OMIM disorders: --

UniProtKB/Swiss-Prot: BRAT1_HUMAN, Q6PJG6

Defects in BRAT1 are the cause of rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL)

[MIM:614498]. A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero,

lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth,

affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal

bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence

throughout life

5 diseases for BRAT1: About MalaCards

ataxia telangiectasia breast cancer ataxia dysautonomia

seizures

Export disorders for BRAT1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for BRAT1 gene, integrated from 9 sources (see all 24) (see top 10):
(articles sorted by number of sources associating them with BRAT1)

Utopia: connect your pdf to the dynamic
world of online information

ATM activation by ionizing radiation requires BRCA1-associated BAAT1. (PubMed id 16452482)^{1, 2, 3} Aglipay J.A....Ouchi T. (2006)
Genetic mapping and exome sequencing identify variants associated with five novel diseases. (PubMed id 22279524)^{1, 2} Puffenberger E.G....Strauss K.A. (2012)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{1, 2} Beausoleil S.A.... Gygi S.P. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)¹ Kristensen A.R....Foster L.J. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)¹ Lee K.A....Doedens J.R. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Comparative proteomic analysis identifies a role for S UMO in protein quality control. (PubMed id 21693764)¹ Tatham M.H....Hay R.T. (2011)
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)¹ Golebiowski F....Hay R.T. (2009)
Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)² Mayya V.... Han D.K. (2009)
Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)² Daub H.... Mann M. (2008)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Large-scale analysis of the human ubiquitin-related p roteome. (PubMed id 16196087)¹ Matsumoto M....Nakayama K.I. (2005)
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)¹ Suzuki Y.... Sugano S. (2004)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)² Scherer S.W.... Tsui L.-C. (2003)
The DNA sequence of human chromosome 7. (PubMed id 12853948)² Hillier L.W.... Wilson R.K. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 221927	HGNC: 21701	AceView: C7orf27	Ensembl:ENSG00000106009	euGenes: HUgn221927
ECgene: BRAT1	H-InvDB: BRAT1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for BRAT1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for BRAT1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for BRAT1 gene:
Search GeneIP for patents involving BRAT1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for BRAT1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BRAT1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BRAT1
	OriGene Protein Over-expression Lysate for BRAT1		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for BRAT1		OriGene 3'-UTR Clone for BRAT1
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BRAT1		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BRAT1
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for BRAT1		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for BRAT1		OriGene Custom Protein Services for BRAT1
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BRAT1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BRAT1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BRAT1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BRAT1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BRAT1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BRAT1

	GenScript Custom Purified and Recombinant Proteins Services for BRAT1		GenScript cDNA clones with any tag delivered in your preferred vector for BRAT1
	GenScript Custom Assay Services for BRAT1		GenScript Custom Superior Antibodies Services for BRAT1
	GenScript Custom overexpressing Cell Line Services for BRAT1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Search Regulatory tfbs for BRAT1
	Search Chromatin IP Primers for BRAT1
	RT² qPCR Primer Assay in human, mouse, rat BRAT1
	Search GNC Networks for BRAT1
	SABiosciences Custom PCR Arrays for BRAT1

Search Tocris compounds for BRAT1

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	BRAT1 antibodies
	BRAT1 proteins
	BRAT1 lysates

	Search for Antibodies for BRAT1 at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for BRAT1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

BRAT1 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for BRAT1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRAT1

	SwitchGear 3'UTR luciferase reporter plasmids for BRAT1
	SwitchGear Promoter luciferase reporter plasmids for BRAT1

ThermoFisher Antibodies for BRAT1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRAT1

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes BRAT1 gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

BRAT1 Gene

BRCA1-associated ATM activator 1

Aliases
for BRAT1 gene

Summaries
for BRAT1 gene

Genomic Views
for BRAT1 gene

Proteins
for BRAT1 gene

Protein Domains /
Families
for BRAT1 gene

Function
for BRAT1 gene

Pathways & Interactions
for BRAT1 gene

Drugs & Compounds
for BRAT1 gene

Transcripts
for BRAT1 gene

Expression
for BRAT1 gene

Orthologs
for BRAT1 gene

Paralogs
for BRAT1 gene

Genomic Variants
for BRAT1 gene

Disorders / Diseases
for BRAT1 gene

Publications
for BRAT1 gene

External Searches for BRAT1 gene

Genome Databases showing BRAT1 gene

Other Databases showing BRAT1 gene

Specialized Databases showing BRAT1 gene

Intellectual Property
for BRAT1 gene

Products
for BRAT1 gene

View Random Gene

Advanced Search

Export list of displayed genes

BRAT1 Gene

BRCA1-associated ATM activator 1

Aliasesfor BRAT1 gene

Summariesfor BRAT1 gene

Genomic Viewsfor BRAT1 gene

Proteinsfor BRAT1 gene

Protein Domains /Familiesfor BRAT1 gene

Functionfor BRAT1 gene

Pathways & Interactionsfor BRAT1 gene

Drugs & Compoundsfor BRAT1 gene

Transcriptsfor BRAT1 gene

Expression for BRAT1 gene

Orthologsfor BRAT1 gene

Paralogsfor BRAT1 gene

Genomic Variantsfor BRAT1 gene

Disorders / Diseasesfor BRAT1 gene

Publicationsfor BRAT1 gene

External Searches for BRAT1 gene

Genome Databases showing BRAT1 gene

Other Databases showing BRAT1 gene

Specialized Databases showing BRAT1 gene

Intellectual Propertyfor BRAT1 gene

Productsfor BRAT1 gene

View Random Gene

Aliases
for BRAT1 gene

Summaries
for BRAT1 gene

Genomic Views
for BRAT1 gene

Proteins
for BRAT1 gene

Protein Domains /
Families
for BRAT1 gene

Function
for BRAT1 gene

Pathways & Interactions
for BRAT1 gene

Drugs & Compounds
for BRAT1 gene

Transcripts
for BRAT1 gene

Expression
for BRAT1 gene

Orthologs
for BRAT1 gene

Paralogs
for BRAT1 gene

Genomic Variants
for BRAT1 gene

Disorders / Diseases
for BRAT1 gene

Publications
for BRAT1 gene

Intellectual Property
for BRAT1 gene

Products
for BRAT1 gene