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

Gene ID: 29086, updated on 5-Jul-2020

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
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
Expression
Ubiquitous expression in brain (RPKM 26.7), placenta (RPKM 25.8) and 25 other tissues See more
Orthologs

Genomic context

See BABAM1 in Genome Data Viewer
Location:
19p13.11
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (17267376..17279353)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17378200..17390162)

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 abhydrolase domain containing 8 Neighboring gene mitochondrial ribosomal protein L34

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

NHGRI 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.
NHGRI GWA Catalog
Common variants at 19p13 are associated with susceptibility to ovarian cancer.
NHGRI GWA Catalog
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
NHGRI GWA Catalog
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
NHGRI GWA Catalog
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ANKLE1

Homology

Clone Names

  • FLJ20571

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
positive regulation of DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein K63-linked deubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
response to ionizing radiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction involved in G2 DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
BRCA1-A complex IDA
Inferred from Direct Assay
more info
PubMed 
BRISC complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
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)

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_001033549.2NP_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)
    AI948445, AK308590, BC091491
    Consensus CDS
    CCDS46012.1
    UniProtKB/Swiss-Prot
    Q9NWV8
    UniProtKB/TrEMBL
    A0A024R7L2
    Related
    ENSP00000352408.3, ENST00000359435.8
    Conserved Domains (1) summary
    TIGR03436
    Location:115188
    acidobact_VWFA; VWFA-related Acidobacterial domain
  2. NM_001288756.1NP_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
    UniProtKB/TrEMBL
    A0A024R7L2
    Related
    ENSP00000470920.1, ENST00000601043.5
  3. NM_001288757.1NP_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)
    AI948445, AK308590, BC091491, CX866662
    Consensus CDS
    CCDS74310.1
    UniProtKB/Swiss-Prot
    Q9NWV8
    UniProtKB/TrEMBL
    J3KQS6
    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
    Q9NWV8
    UniProtKB/TrEMBL
    A0A024R7L2
    Related
    ENSP00000471605.1, ENST00000598188.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    17267376..17279353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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