MAD2L1BP (MAD2L1 binding protein)

2007-12-01  

Identity

HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
CMT2

Other Information

Locus ID:

NCBI: 9587
MIM: 618136
HGNC: 21059
Ensembl: ENSG00000124688

Variants:

dbSNP: 9587
ClinVar: 9587
TCGA: ENSG00000124688
COSMIC: MAD2L1BP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124688ENST00000372171Q15013
ENSG00000124688ENST00000451025Q15013

Expression (GTEx)

0
5
10
15
20
25
30
35
40

References

Pubmed IDYearTitleCitations
373349672023Biallelic variants in MAD2L1BP (p31(comet)) cause female infertility characterized by oocyte maturation arrest.1
377966162023Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.1
373349672023Biallelic variants in MAD2L1BP (p31(comet)) cause female infertility characterized by oocyte maturation arrest.1
377966162023Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.1
320298992020Mitotic slippage is determined by p31(comet) and the weakening of the spindle-assembly checkpoint.18
330512982020p31(comet) promotes homologous recombination by inactivating REV7 through the TRIP13 ATPase.18
320298992020Mitotic slippage is determined by p31(comet) and the weakening of the spindle-assembly checkpoint.18
330512982020p31(comet) promotes homologous recombination by inactivating REV7 through the TRIP13 ATPase.18
311182822019Role of Polo-like kinase 1 in the regulation of the action of p31(comet) in the disassembly of mitotic checkpoint complexes.9
311182822019Role of Polo-like kinase 1 in the regulation of the action of p31(comet) in the disassembly of mitotic checkpoint complexes.9
294085092018MAD2-p31(comet) axis deficiency reduces cell proliferation, migration and sensitivity of microtubule-interfering agents in glioma.4
294085092018MAD2-p31(comet) axis deficiency reduces cell proliferation, migration and sensitivity of microtubule-interfering agents in glioma.4
286593782017The AAA+ ATPase TRIP13 remodels HORMA domains through N-terminal engagement and unfolding.45
292088962017Mechanistic insight into TRIP13-catalyzed Mad2 structural transition and spindle checkpoint silencing.21
286593782017The AAA+ ATPase TRIP13 remodels HORMA domains through N-terminal engagement and unfolding.45

Citation

Dessen P

MAD2L1BP (MAD2L1 binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49962/mad2l1bp