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MAD1L1 (mitotic arrest deficient 1 like 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8379
Gene nameGene Name - the full gene name approved by the HGNC.
Mitotic arrest deficient 1 like 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MAD1L1
SynonymsGene synonyms aliases
MAD1, PIG9, TP53I9, TXBP181
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.3
SummarySummary of gene provided in NCBI Entrez Gene.
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT045498 hsa-miR-149-5p CLASH 23622248
MIRT050540 hsa-miR-20a-5p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
CEBPA Unknown 21345218
CEBPB Unknown 21345218
TP53 Repression 12876282
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000776 Component Kinetochore IBA 21873635
GO:0000776 Component Kinetochore IDA 20133940
GO:0000776 Component Kinetochore IDA 17363900, 22351768
GO:0000777 Component Condensed chromosome kinetochore IEA
GO:0005515 Function Protein binding IPI 12006501, 14978040, 16189514, 18318601, 18981471, 19273613, 21041666, 21516116, 21772247, 21988832, 22351768, 22493223, 24581499, 25036637, 25416956, 25910212, 26258632, 26496610, 26871637, 29997244, 31467278, 31515488, 32296183, 32814053
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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 closed conformation form of MAD2L1 (C-MAD2) at unattached kinetochores during prometaphase, recruits an open conformation of MAD2L1 (O-MAD2) and promotes the conversion of O-MAD2 to C-MAD2, which ensures mitotic checkpoint signaling (PubMed:29162720). ; [Isoform 3]: Sequesters MAD2L1 in the cytoplasm preventing its function as an activator of the mitotic spindle assembly checkpoint (SAC) resulting in SAC impairment and chromosomal instability in hepatocellular carcinomas.
PDB 1GO4 , 4DZO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05557 MAD
54 716
Mitotic checkpoint protein
Coiled-coil
Sequence
Sequence length 718
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Prostate cancer, hereditary PROSTATE CANCER, HEREDITARY, 1 rs387906327, rs193929331, rs74315365, rs10993994, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466 29892016
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 28991256, 31268507, 22688191, 26198764, 31374203, 23974872, 30285260, 24280982, 28540026, 29483656, 24556472, 24166486, 21926974
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778
Prostate cancer Malignant neoplasm of prostate, Prostate carcinoma, Prostate cancer, familial, PROSTATE CANCER, SOMATIC rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 29892016
Unknown
Disease name Disease term dbSNP ID References
Mental depression Major Depressive Disorder rs587778876, rs587778877 30718901, 29662059, 29942085
Bipolar disorder Bipolar Disorder 24280982, 27329760, 28115744, 24166486
Cardiovascular diseases Cardiovascular Diseases 30595370
Depressed bipolar disorder Depressed bipolar I disorder 31043756

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