Mad2l1bp MAD2L1 binding protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mad2l1bpprovided by MGI
Official Full Name: MAD2L1 binding proteinprovided by MGI
Primary source: MGI:MGI:1913841
See related: Ensembl:ENSMUSG00000034509 AllianceGenome:MGI:1913841
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: CMT2A; CMT2B; Mad2lbp; mKIAA0110; 0610009D16Rik; 2510031P20Rik
Summary: Predicted to be involved in deactivation of mitotic spindle assembly checkpoint and regulation of exit from mitosis. Predicted to act upstream of or within mitotic spindle assembly checkpoint signaling. Predicted to be located in cytoplasm and nucleus. Predicted to be active in nucleus. Orthologous to human MAD2L1BP (MAD2L1 binding protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver E14.5 (RPKM 16.5), large intestine adult (RPKM 15.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 C; 17 22.88 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (46458311..46464477, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (46147385..46153551, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Biallelic variants in MAD2L1BP (p31[comet]) cause female infertility characterized by oocyte maturation arrest.
Title: Biallelic variants in MAD2L1BP (p31(comet)) cause female infertility characterized by oocyte maturation arrest.
p31comet-induced cell death is mediated by interactions with Mad2
Title: p31comet-Induced Cell Death Is Mediated by Binding and Inactivation of Mad2.

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Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW550977 (e-PCR)
- UniSTS:181029

RH136520 (e-PCR)
- UniSTS:210502

RH125942 (e-PCR)
- UniSTS:162654

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in deactivation of mitotic spindle assembly checkpoint	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitotic spindle assembly checkpoint signaling	ISO Inferred from Sequence Orthology more info	PubMed
involved_in regulation of exit from mitosis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: MAD2L1-binding protein

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.