Human Gene BABAM2 (ENST00000342045.6_1) from GENCODE V47lift37
  Description: BRISC and BRCA1 A complex member 2, transcript variant 2 (from RefSeq NM_199194.3)
Gencode Transcript: ENST00000342045.6_1
Gencode Gene: ENSG00000158019.21_14
Transcript (Including UTRs)
   Position: hg19 chr2:28,113,659-28,561,768 Size: 448,110 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr2:28,117,424-28,561,380 Size: 443,957 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:28,113,659-28,561,768)mRNA (may differ from genome)Protein (383 aa)
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BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BRE_HUMAN
DESCRIPTION: RecName: Full=BRCA1-A complex subunit BRE; AltName: Full=BRCA1/BRCA2-containing complex subunit 45; AltName: Full=Brain and reproductive organ-expressed protein;
FUNCTION: Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity and modulating the E3 ubiquitin ligase activity of the BRCA1-BARD1 heterodimer. Probably also plays a role as a component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin. May play a role in homeostasis or cellular differentiation in cells of neural, epithelial and germline origins. May also act as a death receptor-associated anti- apoptotic protein, which inhibits the mitochondrial apoptotic pathway. May regulate TNF-alpha signaling through its interactions with TNFRSF1A; however these effects may be indirect.
SUBUNIT: Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. In the BRCA1-A complex, interacts directly with FAM175A/Abraxas, BRCC3/BRCC36 and BABAM1/NBA1. Binds polyubiquitin. Component of the BRISC complex, at least composed of the FAM175B/ABRO1, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. Component of the BRCA1/BRCA2 containing complex (BRCC), which also contains BRCA1, BRCA2, BARD1, BRCC3/BRCC36 and RAD51. BRCC is a ubiquitin E3 ligase complex that enhances cellular survival following DNA damage. May interact with FAS and TNFRSF1A.
INTERACTION: Q9NWV8:BABAM1; NbExp=3; IntAct=EBI-949389, EBI-745725;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs).
TISSUE SPECIFICITY: Expressed in all cell lines examined. Highly expressed in placenta.
INDUCTION: Down-regulated by DNA-damaging agents in fibroblasts, by retinoic acid in brain glioma U-251 and promyelocytic HL-60 cell lines, and by bacterial lipopolysaccharides (LPS) in peripheral blood mononuclear cells (PBMC).
DOMAIN: Contains 2 ubiquitin-conjugating enzyme family-like (UEV- like) regions. These regions lack the critical Cys residues required for ubiquitination but retain the ability to bind ubiquitin.
SIMILARITY: Belongs to the BRE family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 269.34 RPKM in Adrenal Gland
Total median expression: 1014.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.20141-0.221 Picture PostScript Text
3' UTR -103.50388-0.267 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010358 - Brain/reproduct-express_prot

Pfam Domains:
PF06113 - Brain and reproductive organ-expressed protein (BRE)

SCOP Domains:
54495 - UBC-like

ModBase Predicted Comparative 3D Structure on Q9NXR7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000268 peroxisome targeting sequence binding
GO:0005164 tumor necrosis factor receptor binding
GO:0005515 protein binding
GO:0031593 polyubiquitin binding

Biological Process:
GO:0006281 DNA repair
GO:0006302 double-strand break repair
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0006325 chromatin organization
GO:0006915 apoptotic process
GO:0006974 cellular response to DNA damage stimulus
GO:0007049 cell cycle
GO:0007165 signal transduction
GO:0010212 response to ionizing radiation
GO:0016579 protein deubiquitination
GO:0043066 negative regulation of apoptotic process
GO:0045739 positive regulation of DNA repair
GO:0051301 cell division
GO:0070536 protein K63-linked deubiquitination
GO:0072425 signal transduction involved in G2 DNA damage checkpoint

Cellular Component:
GO:0000152 nuclear ubiquitin ligase complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070531 BRCA1-A complex
GO:0070552 BRISC complex


-  Descriptions from all associated GenBank mRNAs
  AK000097 - Homo sapiens cDNA FLJ20090 fis, clone COL04151.
AK291086 - Homo sapiens cDNA FLJ77520 complete cds, highly similar to Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 2, mRNA.
AF015767 - Homo sapiens brain and reproductive organ-expressed protein (BRE) mRNA, complete cds.
L38616 - Homo sapiens brain and reproductive organ-expressed protein (BRE) gene, complete cds.
AF420602 - Homo sapiens BRE alpha b isoform (BRE) mRNA, complete cds; alternatively spliced.
AF420603 - Homo sapiens upstream ORF and BRE beta b isoform (BRE) mRNAs, complete cds; alternatively spliced.
AF420604 - Homo sapiens truncated BRE alpha a3+ isoform (BRE) mRNA, complete cds; alternatively spliced.
AF420605 - Homo sapiens BRE alpha a' isoform (BRE) mRNA, complete cds; alternatively spliced.
BC001251 - Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator), mRNA (cDNA clone MGC:4974 IMAGE:3456561), complete cds.
KJ892808 - Synthetic construct Homo sapiens clone ccsbBroadEn_02202 BRE gene, encodes complete protein.
AB590130 - Synthetic construct DNA, clone: pFN21AE1389, Homo sapiens BRE gene for brain and reproductive organ-expressed, without stop codon, in Flexi system.
AY438031 - Homo sapiens BRCA1/BRCA2-containing complex subunit 45 (BRE) mRNA, complete cds.
DQ891264 - Synthetic construct clone IMAGE:100003894; FLH170551.01X; RZPDo839G0898D brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE) gene, encodes complete protein.
DQ894451 - Synthetic construct Homo sapiens clone IMAGE:100008911; FLH170547.01L; RZPDo839G0897D brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE) gene, encodes complete protein.
AK123076 - Homo sapiens cDNA FLJ41081 fis, clone ADRGL2009755, highly similar to Homo sapiens brain and reproductive organ-expressed protein (BRE) mRNA.
U19178 - Human (Hin-3)/HIV1 promoter region chimeric mRNA, complete cds.
JD021301 - Sequence 2325 from Patent EP1572962.
JD028012 - Sequence 9036 from Patent EP1572962.
AK098345 - Homo sapiens cDNA FLJ25479 fis, clone CBL03933.
JD301828 - Sequence 282852 from Patent EP1572962.
JD465104 - Sequence 446128 from Patent EP1572962.
JD363800 - Sequence 344824 from Patent EP1572962.
JD451244 - Sequence 432268 from Patent EP1572962.
JD474848 - Sequence 455872 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NXR7 (Reactome details) participates in the following event(s):

R-HSA-5683385 Formation of BRCA1-A complex at DNA DSBs
R-HSA-5684071 RNF4 ubiquitinates MDC1
R-HSA-5686685 RIF1 and PAX1IP bind TP53BP1 at DNA DSBs
R-HSA-5693551 Phosphorylation of BRCA1-A complex at multiple sites by ATM
R-HSA-5691411 BRCA1-A complex deubiquitinates K63polyUb-histone H2A
R-HSA-5683735 CHEK2 is recruited to DNA DSBs
R-HSA-5683801 CHEK2 phosphorylates BRCA1
R-HSA-69891 Phosphorylation and activation of CHEK2 by ATM
R-HSA-5684052 PIAS4 SUMOylates MDC1
R-HSA-5691439 BRISC complex deubiquitinates NLRP3
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
R-HSA-5693606 DNA Double Strand Break Response
R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
R-HSA-5693532 DNA Double-Strand Break Repair
R-HSA-5689901 Metalloprotease DUBs
R-HSA-69473 G2/M DNA damage checkpoint
R-HSA-5693538 Homology Directed Repair
R-HSA-73894 DNA Repair
R-HSA-5688426 Deubiquitination
R-HSA-69481 G2/M Checkpoints
R-HSA-597592 Post-translational protein modification
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-392499 Metabolism of proteins
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4X1, BABA2_HUMAN, BABAM2 , BRCC45, BRE, D6W562, D6W563, ENST00000342045.1, ENST00000342045.2, ENST00000342045.3, ENST00000342045.4, ENST00000342045.5, NM_199194, Q13880, Q4ZFX8, Q53SD0, Q969X9, Q96P06, Q9NXR7, uc317wfj.1
UCSC ID: ENST00000342045.6_1
RefSeq Accession: NM_199194.3
Protein: Q9NXR7 (aka BRE_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.