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.
|
|
Transcription factors
|
|
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 |
GO:0005635 |
Component |
Nuclear envelope |
IDA |
22351768 |
GO:0005813 |
Component |
Centrosome |
NAS |
9546394 |
GO:0005819 |
Component |
Spindle |
NAS |
9546394 |
GO:0005829 |
Component |
Cytosol |
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 |
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 |
21873635 |
GO:0072686 |
Component |
Mitotic spindle |
IBA |
21873635 |
GO:0072686 |
Component |
Mitotic spindle |
IDA |
20133940 |
GO:0090235 |
Process |
Regulation of metaphase plate congression |
IDA |
20133940 |
GO:0097431 |
Component |
Mitotic spindle pole |
IDA |
22351768 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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.
|
|
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 |
Somatic lymphoma |
LYMPHOMA, SOMATIC |
rs121908981 |
|
Lymphoma |
Lymphoma |
rs11540652, rs1592119138, rs1592123162, rs1599367044 |
|
Arthritis |
Juvenile arthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
19565504 |
|
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 |
Development disorder |
Child Development Disorders, Pervasive |
|
28540026 |
Gastroesophageal reflux disease |
Gastroesophageal reflux disease |
|
31527586 |
Juvenile arthritis |
Juvenile psoriatic arthritis |
|
19565504 |
Mental disorders |
Mental disorders |
|
24280982 |
Mood disorder |
Mood Disorders |
|
29942085 |
Seronegative polyarthritis |
Polyarthritis, Juvenile, Rheumatoid Factor Negative |
|
19565504 |
Polyarthritis, rheumatoid factor positive |
Polyarthritis, Juvenile, Rheumatoid Factor Positive |
|
19565504 |
Prostate adenocarcinoma |
Adenocarcinoma of prostate |
|
|
Prostatic neoplasms |
Prostatic Neoplasms |
|
|
Psychosis |
Psychotic Disorders |
|
24280982 |
Schizoaffective disorder |
Schizoaffective Disorder |
|
24166486 |
Still disease |
Juvenile-Onset Still Disease |
|
19565504 |
Testicular neoplasms |
Testicular Neoplasms |
|
23666239 |
Testicular germ cell tumor |
Testicular Germ Cell Tumor |
|
23666239, 28604728, 28604732 |
|
|
|