MAD1L1 (mitotic arrest deficient 1 like 1)

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
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
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
miRNA miRNA information provided by mirtarbase database.
12
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
Transcription factor Regulation Reference
CEBPA Unknown 21345218
CEBPB Unknown 21345218
TP53 Repression 12876282
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602686 6762 ENSG00000002822
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 718
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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 Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
63
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
LYMPHOMA, DIFFUSE LARGE B-CELL, SOMATIC Pathogenic rs121908981 RCV003151708
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mosaic variegated aneuploidy syndrome 1 Pathogenic rs2534062497, rs776490151 RCV003322685
RCV003322686
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition Pathogenic rs750824848, rs1341891692 RCV003152384
RCV003152385
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (60)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (98)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 17577784
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma CGI_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 12112318
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 21940415
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 31906708 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder GWASCAT_DG 24166486, 24280982, 27329760, 28115744
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar disorder Pubtator 24280982, 27184339, 28115744, 30531795, 31906708 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder BEFREE 28115744, 30531795
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm Bladder Neoplasm BEFREE 16765199
★★★★★
★☆☆☆☆
Found in Text Mining only
Blast Phase Blast phase chronic myelogenous leukemia BEFREE 28602946
★★★★★
★☆☆☆☆
Found in Text Mining only