MAD1L1 - mitotic arrest deficient 1 like 1 Gene

Also Known as MAD1; PIG9; TP53I9; TXBP181

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8379

About MAD1L1

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:1,815,795-2,232,945 (from NCBI)

This gene has 23 transcripts (splice variants), 194 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 4.4), spleen (RPKM 4.1) and 25 other tissues.

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 cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

MAD1L1 Products (6)

mRNA	Protein	Name
NM_001013836.2	NP_001013858.1	mitotic spindle assembly checkpoint protein MAD1 isoform a
NM_001013837.2	NP_001013859.1	mitotic spindle assembly checkpoint protein MAD1 isoform a
NM_001304523.2	NP_001291452.1	mitotic spindle assembly checkpoint protein MAD1 isoform a
NM_001304524.2	NP_001291453.1	mitotic spindle assembly checkpoint protein MAD1 isoform b precursor
NM_001304525.2	NP_001291454.1	mitotic spindle assembly checkpoint protein MAD1 isoform c
NM_003550.3	NP_003541.2	mitotic spindle assembly checkpoint protein MAD1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables kinetochore binding	IDA IDA: Inferred from direct assay	18981471	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12006501	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cytoplasmic sequestering of protein	IDA IDA: Inferred from direct assay	19010891	GOA
involved in deactivation of mitotic spindle assembly checkpoint	IDA IDA: Inferred from direct assay	19010891	GOA
involved in mitotic spindle assembly checkpoint signaling	IDA IDA: Inferred from direct assay	18981471	GOA
involved in mitotic spindle assembly checkpoint signaling	IMP IMP: Inferred from mutant phenotype	9546394	GOA
involved in positive regulation of mitotic cell cycle spindle assembly checkpoint	IDA IDA: Inferred from direct assay	22898774	GOA
involved in positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP IMP: Inferred from mutant phenotype	36322655	GOA
involved in regulation of metaphase plate congression	IDA IDA: Inferred from direct assay	20133940	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of MAD1 complex	IPI IPI: Inferred from physical interaction	22493223	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	19010891	GOA
colocalizes with kinetochore	IDA IDA: Inferred from direct assay	17363900	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	20133940	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
colocalizes with mitotic spindle pole	IDA IDA: Inferred from direct assay	22351768	GOA
colocalizes with nuclear envelope	IDA IDA: Inferred from direct assay	22351768	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	22493223	GOA
part of nuclear pore nuclear basket	IDA IDA: Inferred from direct assay	18981471	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19010891	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

MAD1L1 Protein Structure

MAD

0
200
400
600
718 a.a.

Protein Preferred Names	Protein Names
mitotic spindle assembly checkpoint protein MAD1	MAD1 mitotic arrest deficient like 1

MAD1L1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MAD1L1	Q9Y6D9	CCHCR1	Homo sapiens	Q8TD31-3	Validated Y2H	25416956
Intra	MAD1L1	Q9Y6D9	TPM3	Homo sapiens	Q5VU62	Y2H Prey Pooling	25416956
Intra	MAD1L1	Q9Y6D9	TPM3	Homo sapiens	Q5VU62	Validated Y2H	25416956
Intra	MAD1L1	Q9Y6D9	LGALSL	Homo sapiens	Q3ZCW2	Y2H Array	25416956
Intra	MAD1L1	Q9Y6D9	TSC22D3	Homo sapiens	Q99576-3	Y2H Array	25416956
Intra	MAD1L1	Q9Y6D9	YJU2	Homo sapiens	Q9BW85	Validated Y2H	25416956
Intra	MAD1L1	Q9Y6D9	YJU2	Homo sapiens	Q9BW85	Y2H Array	25416956
Intra	MAD1L1	Q9Y6D9	USP15	Homo sapiens	Q9Y4E8	Validated Y2H	25416956
Intra	MAD1L1	Q9Y6D9	USP15	Homo sapiens	Q9Y4E8	Y2H Array	25416956
Intra	MAD1L1	Q9Y6D9	MFAP1	Homo sapiens	P55081	Validated Y2H	25416956
Intra	MAD1L1	Q9Y6D9	TPR	Homo sapiens	P12270	Anti Bait CoIP	24581499
Intra	MAD1L1	Q9Y6D9	CENPE	Homo sapiens	Q02224	Pull Down	26258632
Intra	MAD1L1	Q9Y6D9	CENPE	Homo sapiens	Q02224	Anti Bait CoIP	26258632
Intra	MAD1L1	Q9Y6D9	CAPN7	Homo sapiens	Q9Y6W3	Validated Y2H	32296183
Intra	MAD1L1	Q9Y6D9	HAUS1	Homo sapiens	Q96CS2	Y2H Prey Pooling	25416956
Intra	MAD1L1	Q9Y6D9	HAUS1	Homo sapiens	Q96CS2	Y2H Array	25416956
Intra	MAD1L1	Q9Y6D9	NEBL	Homo sapiens	O76041	Y2H Array	25416956
Intra	MAD1L1	Q9Y6D9	NEBL	Homo sapiens	O76041	Y2H Prey Pooling	25416956
Intra	MAD1L1	Q9Y6D9	NEBL	Homo sapiens	O76041	Y2H Array	31515488
Intra	MAD1L1	Q9Y6D9	NEBL	Homo sapiens	O76041	Validated Y2H	25416956
Intra	MAD1L1	Q9Y6D9	TPM3	Homo sapiens	P06753	Y2H Array	25416956
Intra	MAD1L1	Q9Y6D9	BAG5	Homo sapiens	Q9UL15	Y2H Prey Pooling	25416956
Intra	MAD1L1	Q9Y6D9	PSMA1	Homo sapiens	P25786	Y2H Array	25416956
Intra	MAD1L1	Q9Y6D9	PSMA1	Homo sapiens	P25786	Validated Y2H	25416956
Intra	MAD1L1	Q9Y6D9	RNF8	Homo sapiens	O76064	Y2H Array	31515488
Intra	MAD1L1	Q9Y6D9	CWF19L2	Homo sapiens	Q2TBE0	Y2H Prey Pooling	25416956
Intra	MAD1L1	Q9Y6D9	TRIM29	Homo sapiens	Q14134	Y2H Array	25416956
Intra	MAD1L1	Q9Y6D9	TRIM29	Homo sapiens	Q14134	Y2H Pooling	16189514
Intra	MAD1L1	Q9Y6D9	TRIM29	Homo sapiens	Q14134	Y2H Prey Pooling	25416956
Intra	MAD1L1	Q9Y6D9	ZSCAN32	Homo sapiens	Q9NX65	Y2H Prey Pooling	25416956
Intra	MAD1L1	Q9Y6D9	ZSCAN32	Homo sapiens	Q9NX65	Validated Y2H	25416956
Intra	MAD1L1	Q9Y6D9	ZSCAN32	Homo sapiens	Q9NX65	Y2H Array	25416956
Intra	MAD1L1	Q9Y6D9	MAD2L1	Homo sapiens	Q13257	Anti Bait CoIP	21772247
Intra	MAD1L1	Q9Y6D9	MAD2L1	Homo sapiens	Q13257	NMR	18318601
Intra	MAD1L1	Q9Y6D9	MAD2L1	Homo sapiens	Q13257	GMS	18318601
Intra	MAD1L1	Q9Y6D9	MAD2L1	Homo sapiens	Q13257	Lumier	37398436
Intra	MAD1L1	Q9Y6D9	MAD2L1	Homo sapiens	Q13257	IF	21772247
Intra	MAD1L1	Q9Y6D9	MAD2L1	Homo sapiens	Q13257	BRET	37398436
Intra	MAD1L1	Q9Y6D9	MAD2L1	Homo sapiens	Q13257	Anti Tag CoIP	22493223
Intra	MAD1L1	Q9Y6D9	MAD2L1	Homo sapiens	Q13257	Y2H	21988832
Intra	MAD1L1	Q9Y6D9	MAD2L1	Homo sapiens	Q13257	Y2H Array	31515488
Intra	MAD1L1	Q9Y6D9	MAD2L1	Homo sapiens	Q13257	Anti Bait CoIP	24581499
Intra	MAD1L1	Q9Y6D9	MAD2L1	Homo sapiens	Q13257	Anti Bait CoIP	26258632
Intra	MAD1L1	Q9Y6D9	ALOX5	Homo sapiens	P09917	Y2H Prey Pooling	25416956
Intra	MAD1L1	Q9Y6D9	ALOX5	Homo sapiens	P09917	Validated Y2H	25416956
Intra	MAD1L1	Q9Y6D9	TSHZ3	Homo sapiens	Q63HK5	Y2H Prey Pooling	25416956
Intra	MAD1L1	Q9Y6D9	TSHZ3	Homo sapiens	Q63HK5	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

MAD1L1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82704	MAD1L1 Antibody (YA2449)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Retroperitoneum Carcinoma	Retroperitoneal Cancer Malignant Neoplasm Of Retroperitoneum And Peritoneum Retroperitoneal Neoplasms Carcinoma Of Retroperitoneum Carcinoma Of The Retroperitoneum Malignant Neoplasm Of Retroperitoneum Malignant Retroperitoneal Cancer Malignant Tumor Of Peritoneum And Retroperitoneum Neoplasm Of Retroperitoneum Neoplasm Of The Retroperitoneum Retroperitoneal Neoplasm Tumor Of Retroperitoneum Malignant Retroperitoneal Tumour Primary Malignant Neoplasm Of Retroperitoneum Retroperitoneum Cancer
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07948	MAD1L1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MAD1L1	VGNC	VGNC:74471
Bos taurus	MAD1L1	VGNC	VGNC:31130
Canis familiaris	MAD1L1	VGNC	VGNC:42914
Mus musculus	MAD1L1	MGD	MGI:1341857
Rattus norvegicus	MAD1L1	RGD	RGD:1596881
Felis catus	MAD1L1	VGNC	VGNC:68124
Others	MAD1L1	NCBI