Babam1 BRISC and BRCA1 A complex member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Babam1provided by MGI
Official Full Name: BRISC and BRCA1 A complex member 1provided by MGI
Primary source: MGI:MGI:1915501
See related: Ensembl:ENSMUSG00000031820 AllianceGenome:MGI:1915501
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Merit40; 5430437P03Rik
Summary: Acts upstream of or within hematopoietic stem cell proliferation. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of BRCA1-A complex and BRISC complex. Predicted to be active in nuclear body. Orthologous to human BABAM1 (BRISC and BRCA1 A complex member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 37.3), ovary adult (RPKM 34.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.3; 8

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (71848809..71857416)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (71396165..71404772)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Merit40 mutation exacerbated ICL-induced chromosome instability in the context of concomitant Brca2 deficiency but not in conjunction with Fancd2 mutation.
Title: MERIT40 cooperates with BRCA2 to resolve DNA interstrand cross-links.
MERIT40(-/-) hematopoietic stem cells are more resistant to cytoablative stress, and exhibit superior repopulating ability and self-renewal upon serial transplantation.
Title: MERIT40 deficiency expands hematopoietic stem cell pools by regulating thrombopoietin receptor signaling.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the Babam1 gene: The Babam1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 464 organisms have orthologs with human gene Babam1
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell division	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within 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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hematopoietic stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in mitotic G2/M transition checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of DNA repair	ISO Inferred from Sequence Orthology more info
involved_in protein K63-linked deubiquitination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein K63-linked deubiquitination	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in response to ionizing radiation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of BRCA1-A complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of BRCA1-A complex	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in nuclear body	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
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; new component of the BRCA1-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_026636.2 → NP_080912.2 BRISC and BRCA1-A complex member 1

See identical proteins and their annotated locations for NP_080912.2

Status: VALIDATED

Source sequence(s)

AC127416, AK147083

Consensus CDS

CCDS40381.1

UniProtKB/Swiss-Prot

Q3UI43, Q9CTJ4

UniProtKB/TrEMBL

A0A8C6IJB2

Related

ENSMUSP00000002473.9, ENSMUST00000002473.10

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

71848809..71857416

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017312947.2 → XP_017168436.1 BRISC and BRCA1-A complex member 1 isoform X1

UniProtKB/Swiss-Prot

Q3UI43, Q9CTJ4

UniProtKB/TrEMBL

A0A8C6IJB2
XM_011242323.3 → XP_011240625.1 BRISC and BRCA1-A complex member 1 isoform X2
XM_017312948.3 → XP_017168437.1 BRISC and BRCA1-A complex member 1 isoform X1

UniProtKB/Swiss-Prot

Q3UI43, Q9CTJ4

UniProtKB/TrEMBL

A0A8C6IJB2