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BABAM1 BRISC and BRCA1 A complex member 1 [ Homo sapiens (human) ]

Gene ID: 29086, updated on 21-Mar-2023

Summary

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Official Symbol
BABAM1provided by HGNC
Official Full Name
BRISC and BRCA1 A complex member 1provided by HGNC
Primary source
HGNC:HGNC:25008
See related
Ensembl:ENSG00000105393 MIM:612766; AllianceGenome:HGNC:25008
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NBA1; HSPC142; MERIT40; C19orf62
Summary
Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; positive regulation of DNA repair; and protein K63-linked deubiquitination. Located in cytosol and nuclear body. Part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 26.7), placenta (RPKM 25.8) and 25 other tissues See more
Orthologs
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Genomic context

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See BABAM1 in Genome Data Viewer
Location:
19p13.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17267443..17279337)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17402324..17414225)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17378252..17390146)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene nuclear receptor subfamily 2 group F member 6 Neighboring gene USH1 protein network component harmonin binding protein 1 Neighboring gene ankyrin repeat and LEM domain containing 1 Neighboring gene mitochondrial ribosomal protein L34 Neighboring gene abhydrolase domain containing 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Phosphoproteomic Analysis Defines BABAM1 as mTORC2 Downstream Effector Promoting DNA Damage Response in Glioblastoma Cells. Kalpongnukul N, et al. J Proteome Res, 2022 Dec 2. PMID 36315652,
  2. Genetic evaluation of BRCA1 associated a complex genes with triple-negative breast cancer susceptibility in Chinese women. Ling H, et al. Oncotarget, 2016 Mar 1. PMID 26848770, Free PMC Article
  3. 19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Stevens KN, et al. Cancer Res, 2012 Apr 1. PMID 22331459, Free PMC Article
  4. Germline mutational analysis of the C19orf62 gene in African-American women with breast cancer. Zheng Y, et al. Breast Cancer Res Treat, 2011 Jun. PMID 21431873, Free PMC Article
  5. Mutation screening of the MERIT40 gene encoding a novel BRCA1 and RAP80 interacting protein in breast cancer families. Solyom S, et al. Breast Cancer Res Treat, 2010 Feb. PMID 19572197, Free PMC Article

See all (88) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phosphoproteomic Analysis Defines BABAM1 as mTORC2 Downstream Effector Promoting DNA Damage Response in Glioblastoma Cells.
    Title: Phosphoproteomic Analysis Defines BABAM1 as mTORC2 Downstream Effector Promoting DNA Damage Response in Glioblastoma Cells.
  2. Mutation of the RXXPEG motif in the MERIT40 (R28A) disrupted its interaction with TNKS1 and R28A mutant cells displayed multiple mitotic defects including aberrant spindle assembly and chromosome misalignment.
    Title: RXXPEG motif of MERIT40 is required to maintain spindle structure and function through its interaction with Tankyrase1.
  3. Genetic variants in NBA1 may be an important genetic determinant of triple-negative breast cancer susceptibility.
    Title: Genetic evaluation of BRCA1 associated a complex genes with triple-negative breast cancer susceptibility in Chinese women.
  4. MERIT40 interacts with ABRAXAS which is adaptor molecule of BRCA1-complex.
    Title: Role of MERIT40 in stabilization of BRCA1 complex: a protein-protein interaction study.
  5. findings suggest that germline deleterious mutations in C19orf62 should be rare or absent in familial and nonfamilial breast cancer women
    Title: Germline mutational analysis of the C19orf62 gene in African-American women with breast cancer.
  6. NBA1/MERIT40 and BRE interaction is required for the integrity of two distinct deubiquitinating enzyme BRCC36-containing complexes
    Title: NBA1/MERIT40 and BRE interaction is required for the integrity of two distinct deubiquitinating enzyme BRCC36-containing complexes.
  7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Common variants at 19p13 are associated with susceptibility to ovarian cancer.
  8. Single nucleotide polymorphism in MERIT40 is associated with ovarian cancer.
    Title: Common variants at 19p13 are associated with susceptibility to ovarian cancer.
  9. germline mutations in MERIT40 are rare or absent in familial breast cancer patients.
    Title: Mutation screening of the MERIT40 gene encoding a novel BRCA1 and RAP80 interacting protein in breast cancer families.
  10. NBA1 is required to maintain BRE and Abra1 abundance and for the recruitment of BRCA1 to sites of DNA damage. In depth bioinformatics analysis revealed that the BRCA1 A complex bears striking similarities to the 19S proteasome complex.
    Title: NBA1, a new player in the Brca1 A complex, is required for DNA damage resistance and checkpoint control.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.
EBI GWAS Catalog
Common variants at 19p13 are associated with susceptibility to ovarian cancer.
EBI GWAS Catalog
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
EBI GWAS Catalog
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
EBI GWAS Catalog
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: ANKLE1

Homology

Clone Names

  • FLJ20571

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
  
involved_in double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in double-strand break repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in hematopoietic stem cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in histone H2A K63-linked deubiquitination NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitotic G2 DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in mitotic G2 DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic G2/M transition checkpoint NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of DNA repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein K63-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in protein K63-linked deubiquitination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in response to ionizing radiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of BRCA1-A complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
part_of BRCA1-A complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of BRCA1-A complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of BRISC complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
part_of BRISC complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in nuclear body IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
BRISC and BRCA1-A complex member 1
Names
BRCA1-A complex subunit MERIT40
mediator of RAP80 interactions and targeting subunit of 40 kDa
mediator of Rap80 interactions and targeting 40 kDa
new component of the BRCA1-A complex
new component of the BRCAA1 A complex

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001033549.3 → NP_001028721.1  BRISC and BRCA1-A complex member 1 isoform 1

    See identical proteins and their annotated locations for NP_001028721.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) is the longest transcript and encodes the longer isoform (1). Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AK308590, BC091491
    Consensus CDS
    CCDS46012.1
    UniProtKB/Swiss-Prot
    Q9NWV8, Q9P018
    UniProtKB/TrEMBL
    A0A024R7L2
    Related
    ENSP00000352408.3, ENST00000359435.8
    Conserved Domains (1) summary
    TIGR03436
    Location:115 → 188
    acidobact_VWFA; VWFA-related Acidobacterial domain

  2. NM_001288756.2 → NP_001275685.1  BRISC and BRCA1-A complex member 1 isoform 1

    See identical proteins and their annotated locations for NP_001275685.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AI948445, AK000578, AK308590
    Consensus CDS
    CCDS46012.1
    UniProtKB/Swiss-Prot
    Q9NWV8, Q9P018
    UniProtKB/TrEMBL
    A0A024R7L2
    Related
    ENSP00000470920.1, ENST00000601043.5

  3. NM_001288757.2 → NP_001275686.1  BRISC and BRCA1-A complex member 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks three consecutive exons in the coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK308590, BC091491, CX866662
    Consensus CDS
    CCDS74310.1
    UniProtKB/Swiss-Prot
    Q9NWV8
    UniProtKB/TrEMBL
    J3KQS6, M0QX07
    Related
    ENSP00000468834.1, ENST00000595632.5

  4. NM_014173.4 → NP_054892.2  BRISC and BRCA1-A complex member 1 isoform 1

    See identical proteins and their annotated locations for NP_054892.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    BC000788, BC091491, BP246573
    Consensus CDS
    CCDS46012.1
    UniProtKB/Swiss-Prot
    Q9NWV8, Q9P018
    UniProtKB/TrEMBL
    A0A024R7L2
    Related
    ENSP00000471605.1, ENST00000598188.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    17267443..17279337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    17402324..17414225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NWV8.1 GenPept UniProtKB/Swiss-Prot:Q9NWV8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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