1. Gene
  2. MAD2L1 - mitotic arrest deficient 2 like 1 Gene

MAD2L1 - mitotic arrest deficient 2 like 1 Gene

Homo sapiens

Also known as MAD2; HSMAD2

Gene ID: 4085 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference
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. Product Name Accession Purity
HY-P71540 MAD2L1 Protein, Human (His-SUMO) Q13257-1 (A2-D205) ≥95%

MAD2L1 Antibodies

Cat. No. Product Name 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