MAD1L1
| MAD1L1 | |||
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Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) |
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| RefSeq (protein) |
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| Location (UCSC) | Chr 7: 1.82 – 2.23 Mb | Chr 5: 140.01 – 140.32 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Mitotic spindle assembly checkpoint protein MAD1 is a protein that in humans is encoded by the MAD1L1 gene.[5][6][7]
MAD1L1 is also known as Human Accelerated Region 3. It may have played a key role in the evolution of humans from apes.[8]
Function
MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Some studies indicate associations of MAD1L1 with psychiatric disorders, including schizophrenia, bipolar disorder, and depression. [9][10][11] Three transcript variants encoding the same protein have been found for this gene.[7]
Interactions
MAD1L1 has been shown to
See also
- MAD1
- MAD2
- Hyperphosphorylation
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000002822 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029554 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 10049595.
- S2CID 7345931.
- ^ a b "Entrez Gene: MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast)".
- PMID 22075116.
- PMID 31740837.
- PMID 27329760.
- PMID 36600305.
- ^ S2CID 21762011.
- S2CID 4427026.
- PMID 11707408.
- PMID 10660610.
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