U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 29086, updated on 27-Nov-2024

    Summary

    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
    Enables identical protein binding activity. Involved in several processes, including DNA repair-dependent chromatin remodeling; mitotic G2 DNA damage checkpoint signaling; and positive regulation of DNA repair. Located in cytosol and nuclear body. Part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 26.7), placenta (RPKM 25.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BABAM1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17267443..17279337)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17402324..17414225)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17378252..17390146)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10328 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17350064-17350242 Neighboring gene nuclear receptor subfamily 2 group F member 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17356712-17357661 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17358611-17359560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17359561-17360509 Neighboring gene USH1 protein network component harmonin binding protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17372219-17372820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17373027-17373584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14261 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:17378029-17378740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10334 Neighboring gene ankyrin repeat and LEM domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17404714-17405262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17405263-17405811 Neighboring gene mitochondrial ribosomal protein L34 Neighboring gene abhydrolase domain containing 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17411770-17412270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17412271-17412771 Neighboring gene Sharpr-MPRA regulatory region 8409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10336

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: ANKLE1

    Clone Names

    • FLJ20571

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair-dependent chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 mitotic G2 DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 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
     
    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
     
    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
     
    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

    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)

    NEW Try the new Transcript table

    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_001033549.3NP_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
      A8MQT0, B4DRY9, B4DVR1, Q6FIA0, Q9NWV8, Q9P018
      Related
      ENSP00000352408.3, ENST00000359435.8
      Conserved Domains (1) summary
      TIGR03436
      Location:115188
      acidobact_VWFA; VWFA-related Acidobacterial domain
    2. NM_001288756.2NP_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
      A8MQT0, B4DRY9, B4DVR1, Q6FIA0, Q9NWV8, Q9P018
      Related
      ENSP00000470920.1, ENST00000601043.5
    3. NM_001288757.2NP_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/TrEMBL
      J3KQS6, M0QX07
      Related
      ENSP00000468834.1, ENST00000595632.5
    4. NM_014173.4NP_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
      A8MQT0, B4DRY9, B4DVR1, Q6FIA0, Q9NWV8, Q9P018
      Related
      ENSP00000471605.1, ENST00000598188.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)