Human Gene BABAM1 (uc002nfv.3)
  Description: Homo sapiens BRISC and BRCA1 A complex member 1 (BABAM1), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr19:17,378,232-17,390,162 Size: 11,931 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr19:17,379,616-17,389,857 Size: 10,242 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:17,378,232-17,390,162)mRNA (may differ from genome)Protein (329 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
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MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BABA1_HUMAN
DESCRIPTION: RecName: Full=BRISC and BRCA1-A complex member 1; AltName: Full=Mediator of RAP80 interactions and targeting subunit of 40 kDa; AltName: Full=New component of the BRCA1-A complex;
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 is required for the complex integrity and its localization at DSBs. Probably also plays a role as a component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin. In these 2 complexes, it is probably required to maintain the stability of BRE/BRCC45 and help the 'Lys-63'-linked deubiquitinase activity mediated by BRCC3/BRCC36 component.
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 and BRE/BRCC45. Component of the BRISC complex, at least composed of the FAM175B/ABRO1, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1.
INTERACTION: Q9NXR7:BRE; NbExp=3; IntAct=EBI-745725, EBI-949389; Q9H2K2:TNKS2; NbExp=4; IntAct=EBI-745725, EBI-4398527;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs).
DOMAIN: The VWFA-like region is similar to the VWFA domain. Its presence reveals similarities between the structure of the 19S proteasome and the BRCA1-A complexes.
SIMILARITY: Belongs to the BABAM1 family.
SEQUENCE CAUTION: Sequence=AAF29106.1; Type=Frameshift; Positions=263;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: BABAM1
Diseases sorted by gene-association score: cherubism (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 44.58 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 1383.09 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 -60.10156-0.385 Picture PostScript Text
3' UTR -104.90305-0.344 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
IPR026126 - BABAM1

ModBase Predicted Comparative 3D Structure on Q9NWV8
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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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein 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:0006974 cellular response to DNA damage stimulus
GO:0007049 cell cycle
GO:0010212 response to ionizing radiation
GO:0016579 protein deubiquitination
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:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016604 nuclear body
GO:0070531 BRCA1-A complex
GO:0070552 BRISC complex


-  Descriptions from all associated GenBank mRNAs
  AK308590 - Homo sapiens cDNA, FLJ98631.
AK299493 - Homo sapiens cDNA FLJ60035 complete cds.
LF384390 - JP 2014500723-A/191893: Polycomb-Associated Non-Coding RNAs.
AK301193 - Homo sapiens cDNA FLJ52777 complete cds.
AK025970 - Homo sapiens cDNA: FLJ22317 fis, clone HRC05274, highly similar to AF161491 Homo sapiens HSPC142 mRNA.
BC006244 - Homo sapiens chromosome 19 open reading frame 62, mRNA (cDNA clone MGC:11295 IMAGE:3947341), complete cds.
AF161491 - Homo sapiens HSPC142 mRNA, complete cds.
AL136692 - Homo sapiens mRNA; cDNA DKFZp564N2378 (from clone DKFZp564N2378).
JD407893 - Sequence 388917 from Patent EP1572962.
AK225047 - Homo sapiens mRNA for hypothetical protein LOC29086 variant, clone: adKA03356.
AK000578 - Homo sapiens cDNA FLJ20571 fis, clone REC01040.
BC091491 - Homo sapiens chromosome 19 open reading frame 62, mRNA (cDNA clone MGC:111069 IMAGE:30364624), complete cds.
BC000788 - Homo sapiens chromosome 19 open reading frame 62, mRNA (cDNA clone MGC:774 IMAGE:3504488), complete cds.
JD221560 - Sequence 202584 from Patent EP1572962.
LF372714 - JP 2014500723-A/180217: Polycomb-Associated Non-Coding RNAs.
AB528293 - Synthetic construct DNA, clone: pF1KE0408, Homo sapiens MERIT40 gene for chromosome 19 open reading frame 62, without stop codon, in Flexi system.
AM393637 - Synthetic construct Homo sapiens clone IMAGE:100001717 for hypothetical protein (HSPC142 gene).
AM393724 - Synthetic construct Homo sapiens clone IMAGE:100001712 for hypothetical protein (HSPC142 gene).
CU675309 - Synthetic construct Homo sapiens gateway clone IMAGE:100017032 5' read C19orf62 mRNA.
KJ898713 - Synthetic construct Homo sapiens clone ccsbBroadEn_08107 BABAM1 gene, encodes complete protein.
KJ898714 - Synthetic construct Homo sapiens clone ccsbBroadEn_08108 BABAM1 gene, encodes complete protein.
CR533526 - Homo sapiens full open reading frame cDNA clone RZPDo834F0119D for gene HSPC142, HSPC142 protein; complete cds, incl. stopcodon.
LF372715 - JP 2014500723-A/180218: Polycomb-Associated Non-Coding RNAs.
LF372716 - JP 2014500723-A/180219: Polycomb-Associated Non-Coding RNAs.
LF372717 - JP 2014500723-A/180220: Polycomb-Associated Non-Coding RNAs.
LF372718 - JP 2014500723-A/180221: Polycomb-Associated Non-Coding RNAs.
JD100984 - Sequence 82008 from Patent EP1572962.
JD554200 - Sequence 535224 from Patent EP1572962.
JD291270 - Sequence 272294 from Patent EP1572962.
JD556604 - Sequence 537628 from Patent EP1572962.
MA619967 - JP 2018138019-A/191893: Polycomb-Associated Non-Coding RNAs.
MA608291 - JP 2018138019-A/180217: Polycomb-Associated Non-Coding RNAs.
MA608292 - JP 2018138019-A/180218: Polycomb-Associated Non-Coding RNAs.
MA608293 - JP 2018138019-A/180219: Polycomb-Associated Non-Coding RNAs.
MA608294 - JP 2018138019-A/180220: Polycomb-Associated Non-Coding RNAs.
MA608295 - JP 2018138019-A/180221: Polycomb-Associated Non-Coding RNAs.

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

Protein Q9NWV8 (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: A8MQT0, B4DRY9, B4DVR1, BABA1_HUMAN, C19orf62, HSPC142, MERIT40, NBA1, NM_001033549, NP_054892, Q6FIA0, Q9NWV8, Q9P018
UCSC ID: uc002nfv.3
RefSeq Accession: NM_001033549
Protein: Q9NWV8 (aka BABA1_HUMAN)
CCDS: CCDS46012.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001033549.1
exon count: 9CDS single in 3' UTR: no RNA size: 1451
ORF size: 990CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2165.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.