Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BABAM1 Gene

Aliases for BABAM1 Gene

  • BRISC And BRCA1 A Complex Member 1 2 3 5
  • Mediator Of RAP80 Interactions And Targeting Subunit Of 40 KDa 3 4
  • New Component Of The BRCA1-A Complex 3 4
  • C19orf62 3 4
  • MERIT40 3 4
  • NBA1 3 4
  • Mediator Of Rap80 Interactions And Targeting 40 KDa 3
  • Mediator Of Rap80 Interactions And Targeting 40 KD 2
  • New Component Of The BRCAA1 A Complex 3
  • New Component Of The BRCA1 A Complex 2
  • Chromosome 19 Open Reading Frame 62 2
  • BRISC And BRCA1-A Complex Member 1 3
  • BRCA1-A Complex Subunit MERIT40 3
  • HSPC142 3

External Ids for BABAM1 Gene

Previous HGNC Symbols for BABAM1 Gene

  • C19orf62

Previous GeneCards Identifiers for BABAM1 Gene

  • GC19P017379
  • GC19P017456
  • GC19P017899
  • GC19P017295
  • GC19P017690
  • GC19P017716
  • GC19P018288
  • GC19P018688

Summaries for BABAM1 Gene

GeneCards Summary for BABAM1 Gene

BABAM1 (BRISC And BRCA1 A Complex Member 1) is a Protein Coding gene. Diseases associated with BABAM1 include Cherubism. Among its related pathways are DNA Double-Strand Break Repair and Deubiquitination. An important paralog of this gene is ENSG00000269307.

UniProtKB/Swiss-Prot for BABAM1 Gene

  • 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. Component of the BRISC complex, a multiprotein complex that specifically cleaves Lys-63-linked ubiquitin in various substrates (PubMed:24075985, PubMed:26195665). 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. The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985).

Gene Wiki entry for BABAM1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BABAM1 Gene

Genomics for BABAM1 Gene

Regulatory Elements for BABAM1 Gene

Enhancers for BABAM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G017261 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8.3 -6.4 -6431 0.9 HDGF ATF1 MLX CREB3L1 ARNT ARID4B ZNF2 ZNF48 ZNF143 DEK ENSG00000269578 MVB12A OCEL1 ENSG00000268087 COLGALT1 PLVAP ENSG00000267904 ENSG00000268743 BABAM1 GTPBP3
GH19G017264 1.1 ENCODE 11.2 -0.7 -720 4.8 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF766 ABHD8 PLVAP BABAM1 F2RL3 OCEL1 GTPBP3 ENSG00000269427 ANKLE1 ENSG00000269095
GH19G017239 1.4 ENCODE dbSUPER 8.3 -22.3 -22334 10.4 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF263 TBX21 MEF2D SSRP1 GLIS1 MVB12A NR2F6 ENSG00000267904 ENSG00000268087 OCEL1 ENSG00000269578 BST2 CPAMD8 RPL18A GTPBP3
GH19G017259 0.8 dbSUPER 8.4 -8.1 -8081 0.3 HDGF USF1 BACH1 CHD4 ARID3A EED ETV6 RELB CREM IKZF2 BABAM1 ABHD8 ENSG00000269095
GH19G017260 0.8 dbSUPER 0.4 -7.5 -7519 0.8 PKNOX1 ZNF133 ETV6 RELB CREM IKZF2 CBFB CEBPB USF2 GATAD2B ENSG00000269095 BABAM1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BABAM1 on UCSC Golden Path with GeneCards custom track

Promoters for BABAM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107867 450 1201 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF766

Genomic Location for BABAM1 Gene

Chromosome:
19
Start:
17,267,350 bp from pter
End:
17,281,249 bp from pter
Size:
13,900 bases
Orientation:
Plus strand

Genomic View for BABAM1 Gene

Genes around BABAM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BABAM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BABAM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BABAM1 Gene

Proteins for BABAM1 Gene

  • Protein details for BABAM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWV8-BABA1_HUMAN
    Recommended name:
    BRISC and BRCA1-A complex member 1
    Protein Accession:
    Q9NWV8
    Secondary Accessions:
    • A8MQT0
    • B4DRY9
    • B4DVR1
    • Q6FIA0
    • Q9P018

    Protein attributes for BABAM1 Gene

    Size:
    329 amino acids
    Molecular mass:
    36560 Da
    Quaternary structure:
    • Component of the ARISC complex, at least composed of UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1 (PubMed:24075985). Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1 (PubMed:19261746, PubMed:19261749, PubMed:19261748, PubMed:21282113). In the BRCA1-A complex, interacts directly with FAM175A/Abraxas and BRE/BRCC45 (PubMed:19261749, PubMed:19261748). Component of the BRISC complex, at least composed of FAM175B/ABRO1, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1 (PubMed:19214193, PubMed:21282113, PubMed:24075985, PubMed:25283148). Identified in a complex with SHMT2 and the other subunits of the BRISC complex (PubMed:24075985).
    SequenceCaution:
    • Sequence=AAF29106.1; Type=Frameshift; Positions=263; Evidence={ECO:0000305};

    Alternative splice isoforms for BABAM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BABAM1 Gene

Post-translational modifications for BABAM1 Gene

  • Ubiquitination at Lys117 and posLast=126126
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BABAM1 (NBA1)
  • Abcam antibodies for BABAM1

No data available for DME Specific Peptides for BABAM1 Gene

Domains & Families for BABAM1 Gene

Gene Families for BABAM1 Gene

Protein Domains for BABAM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BABAM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NWV8

UniProtKB/Swiss-Prot:

BABA1_HUMAN :
  • 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.
  • Belongs to the BABAM1 family.
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.
Family:
  • Belongs to the BABAM1 family.
genes like me logo Genes that share domains with BABAM1: view

Function for BABAM1 Gene

Molecular function for BABAM1 Gene

UniProtKB/Swiss-Prot 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. Component of the BRISC complex, a multiprotein complex that specifically cleaves Lys-63-linked ubiquitin in various substrates (PubMed:24075985, PubMed:26195665). 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. The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985).

Gene Ontology (GO) - Molecular Function for BABAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with BABAM1: view
genes like me logo Genes that share phenotypes with BABAM1: view

Animal Model Products

miRNA for BABAM1 Gene

miRTarBase miRNAs that target BABAM1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BABAM1 Gene

Localization for BABAM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BABAM1 Gene

Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000269 PubMed:19261746, ECO:0000269 PubMed:19261748, ECO:0000269 PubMed:19261749, ECO:0000269 PubMed:21282113}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BABAM1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1

Gene Ontology (GO) - Cellular Components for BABAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19261746
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 19261749
GO:0005829 cytosol IDA,TAS --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with BABAM1: view

Pathways & Interactions for BABAM1 Gene

genes like me logo Genes that share pathways with BABAM1: view

Pathways by source for BABAM1 Gene

1 Cell Signaling Technology pathway for BABAM1 Gene
1 KEGG pathway for BABAM1 Gene

Gene Ontology (GO) - Biological Process for BABAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IMP 19261746
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with BABAM1: view

No data available for SIGNOR curated interactions for BABAM1 Gene

Drugs & Compounds for BABAM1 Gene

No Compound Related Data Available

Transcripts for BABAM1 Gene

Unigene Clusters for BABAM1 Gene

BRISC and BRCA1 A complex member 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BABAM1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b · 9c ^ 10a ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: - - - -
SP6: - - - - - - - - -
SP7: - - - - -
SP8: - - - - - - - - - -
SP9: - - - - - - -
SP10: - - - - - - - - -
SP11: -
SP12: - - - -
SP13: - - - -
SP14: -
SP15:
SP16:

ExUns: 10b · 10c · 10d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for BABAM1 Gene

GeneLoc Exon Structure for
BABAM1
ECgene alternative splicing isoforms for
BABAM1

Expression for BABAM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BABAM1 Gene

Protein differential expression in normal tissues from HIPED for BABAM1 Gene

This gene is overexpressed in Adrenal (15.9) and Peripheral blood mononuclear cells (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BABAM1 Gene



Protein tissue co-expression partners for BABAM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BABAM1 Gene:

BABAM1

SOURCE GeneReport for Unigene cluster for BABAM1 Gene:

Hs.190722

Evidence on tissue expression from TISSUES for BABAM1 Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Spleen(4.3)
  • Blood(4.1)
  • Muscle(2.6)
genes like me logo Genes that share expression patterns with BABAM1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BABAM1 Gene

Orthologs for BABAM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BABAM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BABAM1 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia BABAM1 34 35
  • 89.56 (n)
cow
(Bos Taurus)
Mammalia BABAM1 34 35
  • 88.86 (n)
mouse
(Mus musculus)
Mammalia Babam1 34 16 35
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Babam1 34
  • 83.22 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 81 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia babam1 34
  • 71.51 (n)
Str.15882 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3908 34
zebrafish
(Danio rerio)
Actinopterygii babam1 34 35
  • 70.4 (n)
Dr.28630 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13494 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
ManyToMany
-- 35
  • 25 (a)
ManyToMany
Species where no ortholog for BABAM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BABAM1 Gene

ENSEMBL:
Gene Tree for BABAM1 (if available)
TreeFam:
Gene Tree for BABAM1 (if available)

Paralogs for BABAM1 Gene

Paralogs for BABAM1 Gene

genes like me logo Genes that share paralogs with BABAM1: view

Variants for BABAM1 Gene

Sequence variations from dbSNP and Humsavar for BABAM1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000099339 -- 17,267,599(+) CTCCT(C/G)GCCTT intron-variant
rs1000161036 -- 17,272,696(+) CCACC(A/G)CGCCC intron-variant
rs1000297918 -- 17,272,828(+) CCTGG(C/T)CGACA intron-variant
rs1000467902 -- 17,266,444(+) GTGGT(A/G)CATGC upstream-variant-2KB
rs1000635338 -- 17,271,721(+) GATAC(A/G)GGGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BABAM1 Gene

Variant ID Type Subtype PubMed ID
nsv470129 CNV loss 18288195
nsv515965 CNV loss 19592680
nsv578740 CNV loss 21841781

Variation tolerance for BABAM1 Gene

Residual Variation Intolerance Score: 56.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BABAM1 Gene

Human Gene Mutation Database (HGMD)
BABAM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BABAM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BABAM1 Gene

Disorders for BABAM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BABAM1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cherubism
  • crbm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BABAM1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BABAM1
genes like me logo Genes that share disorders with BABAM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BABAM1 Gene

Publications for BABAM1 Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4 64
  2. The deubiquitinating enzyme complex BRISC is required for proper mitotic spindle assembly in mammalian cells. (PMID: 26195665) Yan K. … Shao G. (J. Cell Biol. 2015) 3 4 64
  3. ABRO1 suppresses tumourigenesis and regulates the DNA damage response by stabilizing p53. (PMID: 25283148) Zhang J. … Yang X. (Nat Commun 2014) 3 4 64
  4. A BRISC-SHMT complex deubiquitinates IFNAR1 and regulates interferon responses. (PMID: 24075985) Zheng H. … Greenberg R.A. (Cell Rep. 2013) 3 4 64
  5. NBA1/MERIT40 and BRE interaction is required for the integrity of two distinct deubiquitinating enzyme BRCC36-containing complexes. (PMID: 21282113) Hu X. … Wang B. (J. Biol. Chem. 2011) 3 4 64

Products for BABAM1 Gene

Sources for BABAM1 Gene

Content
Loading form....