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

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: 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: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (17267443..17279337)
RS_2023_10	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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WWOX binds MERIT40 and modulates its function in homologous recombination, implications in breast cancer.
Title: WWOX binds MERIT40 and modulates its function in homologous recombination, implications in breast cancer.
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.
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.
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.
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.
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.
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.
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.
Single nucleotide polymorphism in MERIT40 is associated with ovarian cancer.
Title: Common variants at 19p13 are associated with susceptibility to ovarian cancer.
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.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11746 (e-PCR)
- UniSTS:11629

A002Q23 (e-PCR)
- UniSTS:63094

WI-11438 (e-PCR)
- UniSTS:16360

SGC31836 (e-PCR)
- UniSTS:77549

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

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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)

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

A8MQT0, B4DRY9, B4DVR1, Q6FIA0, Q9NWV8, Q9P018

Related

ENSP00000352408.3, ENST00000359435.8

Conserved Domains (1) summary

TIGR03436
Location:115 → 188

acidobact_VWFA; VWFA-related Acidobacterial domain
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

A8MQT0, B4DRY9, B4DVR1, Q6FIA0, Q9NWV8, Q9P018

Related

ENSP00000470920.1, ENST00000601043.5
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/TrEMBL

J3KQS6, M0QX07

Related

ENSP00000468834.1, ENST00000595632.5
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

A8MQT0, B4DRY9, B4DVR1, Q6FIA0, Q9NWV8, Q9P018

Related

ENSP00000471605.1, ENST00000598188.6