MAD2L1 - mitotic arrest deficient 2 like 1 Gene

Also Known as MAD2; HSMAD2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4085

About MAD2L1

Cytogenetic location: 4q27 Genomic coordinates (GRCh38): 4:120,055,623-120,066,848 (from NCBI)

This gene has 5 transcripts (splice variants), 229 orthologues and 1 paralogue. Broad expression in bone marrow (RPKM 15.9), lymph node (RPKM 15.1) and 23 other tissues.

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 been mapped to chromosome 14. [provided by RefSeq, Jul 2008]

MAD2L1 Products (1)

mRNA Protein Name
NM_002358.4 NP_002349.1 mitotic spindle assembly checkpoint protein MAD2A
Molecular Function GO Annotation Evidence Références Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
16525508 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10200259 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
18022367 GOA
Cellular Component GO Annotation Evidence Références Source
located in cytosol IDA
IDA: Inferred from direct assay
18981471 GOA
colocalizes with kinetochore IDA
IDA: Inferred from direct assay
17363900 GOA
located in kinetochore IDA
IDA: Inferred from direct assay
8824189 GOA
part of mitotic checkpoint complex IPI
IPI: Inferred from physical interaction
27509861 GOA
located in mitotic spindle IDA
IDA: Inferred from direct assay
20133940 GOA
part of mitotic spindle assembly checkpoint MAD1-MAD2 complex IPI
IPI: Inferred from physical interaction
12006501 GOA
part of nuclear pore nuclear basket IDA
IDA: Inferred from direct assay
18981471 GOA
located in nucleus IDA
IDA: Inferred from direct assay
18981471 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
8824189 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAD2L1 Protein Structure

HORMA

HORMA: HORMA domain (12 - 191)

  • 0
  • 100
  • 205 a.a.
Protein Preferred Names Protein Names

mitotic spindle assembly checkpoint protein MAD2A

  • MAD2 (mitotic arrest deficient, yeast, homolog)-like 1

MAD2L1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
MAD2L1 Q13257 BUB1B Homo sapiens O60566 21772247
Intra
MAD2L1 Q13257 BUB1B Homo sapiens O60566 33961781
Intra
MAD2L1 Q13257 DEPDC5 Homo sapiens O75140-2 32296183
Intra
MAD2L1 Q13257 DEPDC5 Homo sapiens O75140-2 32296183
Intra
MAD2L1 Q13257 CDC20 Homo sapiens Q12834 17443180
Intra
MAD2L1 Q13257 CDC20 Homo sapiens Q12834
ITC
18318601
Intra
MAD2L1 Q13257 CDC20 Homo sapiens Q12834 17443186
Intra
MAD2L1 Q13257 CDC20 Homo sapiens Q12834 19143472
Intra
MAD2L1 Q13257 CDC20 Homo sapiens Q12834 16525508
Intra
MAD2L1 Q13257 EPM2AIP1 Homo sapiens Q7L775 32296183
Intra
MAD2L1 Q13257 EPM2AIP1 Homo sapiens Q7L775 32296183
Intra
MAD2L1 Q13257 EPM2AIP1 Homo sapiens Q7L775 32296183
Intra
MAD2L1 Q13257 EPM2AIP1 Homo sapiens Q7L775 33961781
Intra
MAD2L1 Q13257 MAD2L1BP Homo sapiens Q15013 32296183
Intra
MAD2L1 Q13257 MAD2L1BP Homo sapiens Q15013 21772247
Intra
MAD2L1 Q13257 MAD2L1BP Homo sapiens Q15013 32296183
Intra
MAD2L1 Q13257 MAD2L1BP Homo sapiens Q15013 26496610
Intra
MAD2L1 Q13257 MAD2L1BP Homo sapiens Q15013 25416956
Intra
MAD2L1 Q13257 MAD2L1BP Homo sapiens Q15013 32296183
Intra
MAD2L1 Q13257 MAD2L1BP Homo sapiens Q15013 33961781
Intra
MAD2L1 Q13257 SDCBP Homo sapiens O00560 25416956
Intra
MAD2L1 Q13257 SDCBP Homo sapiens O00560 25416956
Intra
MAD2L1 Q13257 SDCBP Homo sapiens O00560 25416956
Intra
MAD2L1 Q13257 TSC22D4 Homo sapiens Q9Y3Q8 25416956
Intra
MAD2L1 Q13257 TSC22D4 Homo sapiens Q9Y3Q8 16189514
Intra
MAD2L1 Q13257 MAD1L1 Homo sapiens Q9Y6D9 26496610
Intra
MAD2L1 Q13257 MAD1L1 Homo sapiens Q9Y6D9 21041666
Intra
MAD2L1 Q13257 MAD1L1 Homo sapiens Q9Y6D9 18692475
Intra
MAD2L1 Q13257 MAD1L1 Homo sapiens Q9Y6D9 18692475
Intra
MAD2L1 Q13257 MAD1L1 Homo sapiens Q9Y6D9
IF
21772247
Intra
MAD2L1 Q13257 MAD1L1 Homo sapiens Q9Y6D9 21041666
Intra
MAD2L1 Q13257 MAD1L1 Homo sapiens Q9Y6D9 16189514
Intra
MAD2L1 Q13257 MAD1L1 Homo sapiens Q9Y6D9 21772247
Intra
MAD2L1 Q13257 MAD1L1 Homo sapiens Q9Y6D9
NMR
21041666
Intra
MAD2L1 Q13257 KEAP1 Homo sapiens Q14145 32296183
Intra
MAD2L1 Q13257 KEAP1 Homo sapiens Q14145 25416956
Intra
MAD2L1 Q13257 KEAP1 Homo sapiens Q14145 32296183
Intra
MAD2L1 Q13257 KEAP1 Homo sapiens Q14145 25416956
Intra
MAD2L1 Q13257 ADAM17 Homo sapiens P78536
Y2H
10527948
Intra
MAD2L1 Q13257 ADAM17 Homo sapiens P78536 10527948
Intra
MAD2L1 Q13257 ADAM17 Homo sapiens P78536 10527948
Intra
MAD2L1 Q13257 SGO2 Homo sapiens Q562F6 21666598
Intra
MAD2L1 Q13257 SGO2 Homo sapiens Q562F6 33961781
Intra
MAD2L1 Q13257 CDC27 Homo sapiens P30260 21772247
Intra
MAD2L1 Q13257 CDC27 Homo sapiens P30260 33961781
Intra
MAD2L1 Q13257 CDC27 Homo sapiens P30260 26496610
Intra
MAD2L1 Q13257 INSR Homo sapiens P06213-2 32296183
Intra
MAD2L1 Q13257 INSR Homo sapiens P06213-2 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MAD2L1 Proteins

Cat. No. Nom du produit Accession Pureté
HY-P71540 MAD2L1 Protein, Human (His-SUMO) Q13257-1 (A2-D205) ≥ 90%, as determined by reducing SDS-PAGE.

MAD2L1 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P81947 MAD2L1 Antibody (YA1692) WB Human

Related Diseases

Diseases Alias
Mosaic Variegated Aneuploidy Syndrome 1
  • Mva Syndrome

  • MVA1

  • Mosaic Variegated Aneuploidy Syndrome, Type 1

  • Mosaic Variegated Aneuploidy Syndrome

  • Congenital Chromosomal Disease

Mosaic Variegated Aneuploidy Syndrome
  • Warburton-Anyane-Yeboa Syndrome

  • Mva Syndrome

  • Mosaic Variegated Aneuplody Microcephaly Syndrome

  • Warburton Anyane Yeboa Syndrome

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Gastric Cancer
  • Stomach Cancer

  • Gastric Carcinoma

  • Stomach Carcinoma

  • Gastric Cancer, Somatic

  • Gastric Neoplasm

  • Carcinoma Of Stomach

  • Stomach Neoplasms

  • Malignant Neoplasm Of Stomach

  • Gastric Cancer Risk After H. Pylori Infection

  • Cancer Of The Stomach

  • Adult Stomach Cancer

  • Adult Stomach Carcinoma

  • GASC

  • Gastric Cancer Intestinal

  • Gastric Cancers

  • Gastric Carcinomas

  • Cancer, Gastric

  • Stomach Neoplasm

  • Malignant Neoplasm Of Body Of Stomach

  • Malignant Tumor Of Lesser Curve Of Stomach

  • Gastrocarcinoma Of Unspecified Site

  • Leather Bottle Stomach

  • Carcinoma Of Fundus Of Stomach

  • Cancer Of Fundus Of Stomach

  • Primary Malignant Neoplasm Of Body Of Stomach

  • Cancer Of Body Of Stomach

  • Primary Malignant Neoplasm Of Pyloric Antrum

  • Pyloric Antrum Cancer

  • Malignant Tumour Of Stomach

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MAD2L1 RGD RGD:1310889
Felis catus MAD2L1 VGNC VGNC:68125
Mus musculus MAD2L1 MGD MGI:1860374
Others MAD2L1 NCBI