Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8379
Gene name	Mitotic arrest deficient 1 like 1
Gene symbol	MAD1L1
Synonyms (NCBI Gene)	MAD1MVA7PIG9TP53I9TXBP181
Chromosome	7
Chromosome location	7p22.3
Summary	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 cel

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121908981	G>C	Pathogenic	Coding sequence variant, stop gained
rs121908982	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant, genic upstream transcript variant

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050540	hsa-miR-20a-5p	CLASH	23622248
MIRT045498	hsa-miR-149-5p	CLASH	23622248
MIRT1125035	hsa-miR-187	CLIP-seq
MIRT1125036	hsa-miR-214	CLIP-seq
MIRT1125037	hsa-miR-223	CLIP-seq
MIRT1125038	hsa-miR-3619-5p	CLIP-seq
MIRT1125039	hsa-miR-4530	CLIP-seq
MIRT1125040	hsa-miR-4632	CLIP-seq
MIRT1125041	hsa-miR-4697-3p	CLIP-seq
MIRT1125042	hsa-miR-4704-3p	CLIP-seq
MIRT1125043	hsa-miR-671-5p	CLIP-seq
MIRT1125044	hsa-miR-761	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
CEBPA	Unknown	21345218
CEBPB	Unknown	21345218
TP53	Repression	12876282

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IBA
GO:0000776	Component	Kinetochore	IDA	17363900, 22351768
GO:0000776	Component	Kinetochore	IDA	20133940, 22493223
GO:0000776	Component	Kinetochore	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	12006501, 14978040, 16189514, 18318601, 18981471, 19010891, 19273613, 21041666, 21516116, 21772247, 21988832, 22351768, 22493223, 24374861, 24581499, 25036637, 25416956, 25910212, 26258632, 26496610, 26871637, 29997244, 31467278, 31515488, 32296183, 32814053, 33961781, 34013668, 362
GO:0005634	Component	Nucleus	IDA	19010891
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IBA
GO:0005635	Component	Nuclear envelope	IDA	22351768
GO:0005635	Component	Nuclear envelope	IDA	22493223
GO:0005635	Component	Nuclear envelope	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	19010891
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	NAS	9546394
GO:0005819	Component	Spindle	IEA
GO:0005819	Component	Spindle	NAS	9546394
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IBA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IDA	18981471
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IEA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IMP	9546394, 36322655
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	NAS	9546394
GO:0042130	Process	Negative regulation of T cell proliferation	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 22493223, 27107012
GO:0043515	Function	Kinetochore binding	IDA	18981471, 22351768
GO:0044615	Component	Nuclear pore nuclear basket	IDA	18981471
GO:0048538	Process	Thymus development	IEA
GO:0051301	Process	Cell division	IEA
GO:0051315	Process	Attachment of mitotic spindle microtubules to kinetochore	IBA
GO:0072686	Component	Mitotic spindle	IBA
GO:0072686	Component	Mitotic spindle	IDA	20133940
GO:0090235	Process	Regulation of metaphase plate congression	IDA	20133940
GO:0090267	Process	Positive regulation of mitotic cell cycle spindle assembly checkpoint	IDA	22898774
GO:0090267	Process	Positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP	36322655
GO:0097431	Component	Mitotic spindle pole	IDA	22351768
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	IEA
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	IEA
GO:1902426	Process	Deactivation of mitotic spindle assembly checkpoint	IDA	19010891
GO:1990706	Component	MAD1 complex	IEA
GO:1990706	Component	MAD1 complex	IPI	22493223
GO:1990728	Component	Mitotic spindle assembly checkpoint MAD1-MAD2 complex	IEA
GO:1990728	Component	Mitotic spindle assembly checkpoint MAD1-MAD2 complex	IPI	12006501

MIM	HGNC	e!Ensembl
602686	6762	ENSG00000002822

Q9Y6D9

Protein name

Mitotic spindle assembly checkpoint protein MAD1 (Mitotic arrest deficient 1-like protein 1) (MAD1-like protein 1) (Mitotic checkpoint MAD1 protein homolog) (HsMAD1) (hMAD1) (Tax-binding protein 181)

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:10049595, PubMed:20133940, PubMed:29162720). Forms a heterotetrameric complex with the clo

PDB

1GO4 , 4DZO , 7B1F , 7B1H , 7B1J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05557	MAD	54 → 716	Mitotic checkpoint protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Expressed in hepatocellular carcinomas and hepatoma cell lines (at protein level). {ECO:0000269|PubMed:19010891, ECO:0000269|PubMed:24374861}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in hepatocellular carcinomas and he

Sequence

MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRS
KSHLIQVEREKMQMELSHKRARVELERAASTSARNYEREVDRNQELLTRIRQLQEREAGA
EEKMQEQLERNRQCQQNLDAASKRLREKEDSLAQAGETINALKGRISELQWSVMDQEMRV
KRLESEKQELQEQLDLQHKKCQEANQKIQELQASQEARADHEQQIKDLEQKLSLQEQDAA
IVKNMKSELVRLPRLERELKQLREESAHLREMRETNGLLQEELEGLQRKLGRQEKMQETL
VGLELENERLLAKLQSWERLDQTMGLSIRTPEDLSRFVVELQQRELALKDKNSAVTSSAR
GLEKARQQLQEELRQVSGQLLEERKKRETHEALARRLQKRVLLLTKERDGMRAILGSYDS
ELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQKQRADMLEMELKML
KSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRT
KVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKE
VAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPG
DCLIFKATSPSGSKMQLLETEFSHTVGELIEVHLRRQDSIPAFLSSLTLELFSRQTVA

Sequence length

718

Interactions

View interactions

	KEGG		Reactome
	Cell cycle Oocyte meiosis Progesterone-mediated oocyte maturation Human T-cell leukemia virus 1 infection Viral carcinogenesis		Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
LYMPHOMA, DIFFUSE LARGE B-CELL, SOMATIC	Pathogenic	rs121908981	RCV003151708
Mosaic variegated aneuploidy syndrome 1	Pathogenic	rs2534062497, rs776490151	RCV003322685 RCV003322686
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	Pathogenic	rs750824848, rs1341891692	RCV003152384 RCV003152385

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Prostate cancer	Benign; Likely benign	rs121908982	RCV003485520
Prostate cancer, somatic	Benign; Likely benign	rs121908982	RCV000007329

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anxiety	Associate	31906708
Bipolar Disorder	Associate	24280982, 27184339, 28115744, 30531795, 31906708
Carcinoma Hepatocellular	Associate	34783177
Carcinoma Ovarian Epithelial	Associate	33052898
Chromosomal Instability	Associate	25411801, 26183163
Chromosome Disorders	Associate	26499943
Colonic Neoplasms	Associate	38143740
Colorectal Neoplasms	Associate	26183163, 34311674
Crohn Disease	Associate	37331566
Depressive Disorder	Associate	31477683
Genetic Diseases Inborn	Associate	25411801
Glioma	Associate	22022424, 37851364
Idiopathic Pulmonary Fibrosis	Associate	31710517
Lymphatic Metastasis	Stimulate	26499943
Mental Disorders	Associate	31906708
Mitochondrial Diseases	Associate	33350444
Neoplasm Metastasis	Associate	26499943
Neoplasms	Associate	12042300, 18791270, 26499943, 28602946, 29895583, 32596342
Ovarian Neoplasms	Associate	33052898
Prostatic Neoplasms	Associate	36360276, 36922933
Schizophrenia	Associate	24556472, 27184339, 31906708, 33350444, 34481484
Silicosis	Associate	39793288
Small Cell Lung Carcinoma	Associate	26499943
Smoke Inhalation Injury	Associate	26183163
Squamous Cell Carcinoma of Head and Neck	Associate	39272022

MAD1L1 (mitotic arrest deficient 1 like 1)