MAD2L1 (mitotic arrest deficient 2 like 1)

Gene

• Entrez ID: 4085
• Gene name: Mitotic arrest deficient 2 like 1
• Gene symbol: MAD2L1
• Synonyms: HSMAD2, MAD2
• Chromosome: 4
• Chromosome location: 4q27
• Summary: MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has b

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004853	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	19074876
MIRT023679	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT024623	hsa-miR-215-5p	Microarray	19074876
MIRT004853	hsa-miR-192-5p	Reporter assay;Western blot;Microarray;Other	19074876
MIRT048838	hsa-miR-93-5p	CLASH	23622248
MIRT054748	hsa-miR-28-5p	Luciferase reporter assay, QRTPCR, Western blot	24843176
MIRT536209	hsa-miR-6507-3p	PAR-CLIP	22012620
MIRT536208	hsa-miR-4738-3p	PAR-CLIP	22012620
MIRT536207	hsa-miR-4261	PAR-CLIP	22012620
MIRT536206	hsa-miR-3671	PAR-CLIP	22012620
MIRT536205	hsa-miR-1297	PAR-CLIP	22012620
MIRT536204	hsa-miR-26a-5p	PAR-CLIP	22012620
MIRT536203	hsa-miR-26b-5p	PAR-CLIP	22012620
MIRT536202	hsa-miR-4465	PAR-CLIP	22012620
MIRT536201	hsa-miR-376a-3p	PAR-CLIP	22012620
MIRT536200	hsa-miR-376b-3p	PAR-CLIP	22012620
MIRT536199	hsa-miR-3977	PAR-CLIP	22012620
MIRT536198	hsa-miR-3978	PAR-CLIP	22012620
MIRT736537	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33204298
MIRT536209	hsa-miR-6507-3p	PAR-CLIP	22012620
MIRT536208	hsa-miR-4738-3p	PAR-CLIP	22012620
MIRT536207	hsa-miR-4261	PAR-CLIP	22012620
MIRT536206	hsa-miR-3671	PAR-CLIP	22012620
MIRT536205	hsa-miR-1297	PAR-CLIP	22012620
MIRT536204	hsa-miR-26a-5p	PAR-CLIP	22012620
MIRT536203	hsa-miR-26b-5p	PAR-CLIP	22012620
MIRT536202	hsa-miR-4465	PAR-CLIP	22012620
MIRT536201	hsa-miR-376a-3p	PAR-CLIP	22012620
MIRT536200	hsa-miR-376b-3p	PAR-CLIP	22012620
MIRT536199	hsa-miR-3977	PAR-CLIP	22012620
MIRT536198	hsa-miR-3978	PAR-CLIP	22012620
MIRT1125045	hsa-miR-101	CLIP-seq
MIRT1125046	hsa-miR-1238	CLIP-seq
MIRT1125047	hsa-miR-1284	CLIP-seq
MIRT1125048	hsa-miR-203	CLIP-seq
MIRT1125049	hsa-miR-26a	CLIP-seq
MIRT1125050	hsa-miR-26b	CLIP-seq
MIRT1125051	hsa-miR-3120-3p	CLIP-seq
MIRT1125052	hsa-miR-3139	CLIP-seq
MIRT1125053	hsa-miR-329	CLIP-seq
MIRT1125054	hsa-miR-362-3p	CLIP-seq
MIRT1125055	hsa-miR-3646	CLIP-seq
MIRT1125056	hsa-miR-3658	CLIP-seq
MIRT1125057	hsa-miR-3686	CLIP-seq
MIRT1125058	hsa-miR-376a	CLIP-seq
MIRT1125059	hsa-miR-376b	CLIP-seq
MIRT1125060	hsa-miR-3941	CLIP-seq
MIRT1125061	hsa-miR-3942-5p	CLIP-seq
MIRT1125062	hsa-miR-3974	CLIP-seq
MIRT1125063	hsa-miR-4289	CLIP-seq
MIRT1125064	hsa-miR-433	CLIP-seq
MIRT1125065	hsa-miR-4633-3p	CLIP-seq
MIRT1125066	hsa-miR-4698	CLIP-seq
MIRT1125067	hsa-miR-4703-5p	CLIP-seq
MIRT1125068	hsa-miR-4742-3p	CLIP-seq
MIRT1125069	hsa-miR-4760-3p	CLIP-seq
MIRT1125070	hsa-miR-4764-3p	CLIP-seq
MIRT1125071	hsa-miR-493	CLIP-seq
MIRT1125072	hsa-miR-495	CLIP-seq
MIRT1125073	hsa-miR-548aa	CLIP-seq
MIRT1125074	hsa-miR-603	CLIP-seq
MIRT1125075	hsa-miR-607	CLIP-seq
MIRT1125076	hsa-miR-708	CLIP-seq
MIRT1125077	hsa-miR-873	CLIP-seq
MIRT1125047	hsa-miR-1284	CLIP-seq
MIRT1125051	hsa-miR-3120-3p	CLIP-seq
MIRT1125057	hsa-miR-3686	CLIP-seq
MIRT1125068	hsa-miR-4742-3p	CLIP-seq
MIRT1125072	hsa-miR-495	CLIP-seq
MIRT2035291	hsa-miR-499-3p	CLIP-seq
MIRT2035292	hsa-miR-499a-3p	CLIP-seq
MIRT2035293	hsa-miR-582-5p	CLIP-seq
MIRT2035294	hsa-miR-587	CLIP-seq
MIRT2035295	hsa-miR-935	CLIP-seq
MIRT2265790	hsa-miR-3163	CLIP-seq
MIRT2265791	hsa-miR-340	CLIP-seq
MIRT2265792	hsa-miR-4436a	CLIP-seq
MIRT2265793	hsa-miR-4643	CLIP-seq
MIRT1125072	hsa-miR-495	CLIP-seq
MIRT2565090	hsa-miR-3613-3p	CLIP-seq
MIRT2565091	hsa-miR-548ac	CLIP-seq
MIRT2565092	hsa-miR-548d-3p	CLIP-seq
MIRT2565093	hsa-miR-548z	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Activation	15563594
ETV6	Repression	20190817
POU2F1	Activation	15563594
RUNX1	Repression	20190817

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IMP	23509069
GO:0000776	Component	Kinetochore	IBA	21873635
GO:0000776	Component	Kinetochore	IDA	8824189, 19229290, 20133940
GO:0000776	Component	Kinetochore	IDA	17363900, 19468067
GO:0000777	Component	Condensed chromosome kinetochore	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	10200259, 10527948, 10700282, 12006501, 15182668, 15525512, 16189514, 16525508, 17443180, 17443186, 18022367, 18022368, 18318601, 18692475, 18794143, 18981471, 19143472, 19273613, 19615732, 20133940, 20212161, 20360068, 20951947, 21041666, 21300909, 21407176, 21666598, 21772247, 219
GO:0005634	Component	Nucleus	IDA	18981471, 20870947
GO:0005654	Component	Nucleoplasm	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IDA	18981471
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS
GO:0007094	Process	Mitotic spindle assembly checkpoint	IBA	21873635
GO:0007094	Process	Mitotic spindle assembly checkpoint	IDA	18981471
GO:0007094	Process	Mitotic spindle assembly checkpoint	TAS
GO:0008022	Function	Protein C-terminus binding	IMP	18981471
GO:0031145	Process	Anaphase-promoting complex-dependent catabolic process	TAS
GO:0042177	Process	Negative regulation of protein catabolic process	IDA	11459825
GO:0042802	Function	Identical protein binding	IPI	16525508, 18022367, 18318601, 21041666, 21772247
GO:0042803	Function	Protein homodimerization activity	IPI	18022367
GO:0043066	Process	Negative regulation of apoptotic process	IMP	20870947
GO:0044615	Component	Nuclear pore nuclear basket	IDA	18981471
GO:0045930	Process	Negative regulation of mitotic cell cycle	IMP	21274008
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	8824189, 20870947
GO:0051301	Process	Cell division	IEA
GO:0051660	Process	Establishment of centrosome localization	IMP	23509069
GO:0072686	Component	Mitotic spindle	IDA	20133940
GO:0090267	Process	Positive regulation of mitotic cell cycle spindle assembly checkpoint	IDA	8824189
GO:0090267	Process	Positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP	20870947
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	TAS
GO:1904667	Process	Negative regulation of ubiquitin protein ligase activity	IDA	11459825

Other IDs

• MIM: 601467
• HGNC: 6763
• e!Ensembl: ENSG00000164109

Protein

• UniProt ID: Q13257
• Protein name: Mitotic spindle assembly checkpoint protein MAD2A (HsMAD2) (Mitotic arrest deficient 2-like protein 1) (MAD2-like protein 1)
• Protein function: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate (PubMed:15024386, PubMed:29162720). In the closed conformation (C-MAD2) forms a heterotetrameric c
• PDB: 1DUJ, 1GO4, 1KLQ, 1S2H, 2QYF, 2V64, 2VFX, 3GMH, 5KHU, 5LCW, 6F0X, 6TLJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02301	HORMA	16 → 196	HORMA domain	Domain

• Sequence:

  MALQLSREQGITLRGSAEIVAEFFSFGINSILYQRGIYPSETFTRVQKYGLTLLVTTDLE
  LIKYLNNVVEQLKDWLYKCSVQKLVVVISNIESGEVLERWQFDIECDKTAKDDSAPREKS
  QKAIQDEIRSVIRQITATVTFLPLLEVSCSFDLLIYTDKDLVVPEKWEESGPQFITNSEE
  VRLRSFTTTIHKVNSMVAYKIPVND

• Sequence length: 205

Pathways

KEGG:

Cell cycle
Oocyte meiosis
Progesterone-mediated oocyte maturation
Human T-cell leukemia virus 1 infection

Reactome:

Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components
Inactivation of APC/C via direct inhibition of the APC/C complex
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Cdc20:Phospho-APC/C mediated degradation of Cyclin A
APC/C:Cdc20 mediated degradation of mitotic proteins
APC-Cdc20 mediated degradation of Nek2A
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Esophagus neoplasm	Squamous cell carcinoma of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	18691855

Unknown
Disease name	Disease term	dbSNP ID	References
Liver carcinoma	Liver carcinoma		28284560
Sclerocystic ovaries	Sclerocystic Ovaries		21411543
Polycystic ovary syndrome	Polycystic Ovary Syndrome		21411543