MAD1L1 mitotic arrest deficient 1 like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAD1L1provided by HGNC
Official Full Name: mitotic arrest deficient 1 like 1provided by HGNC
Primary source: HGNC:HGNC:6762
See related: Ensembl:ENSG00000002822 MIM:602686; AllianceGenome:HGNC:6762
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MAD1; MVA7; PIG9; TP53I9; TXBP181
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]
Expression: Ubiquitous expression in testis (RPKM 4.4), spleen (RPKM 4.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p22.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (1815795..2232945, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (1928871..2346389, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (1855431..2272580, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNA methylation near MAD1L1, KDM2B, and SOCS3 mediates the effect of socioeconomic status on elevated body mass index in African American adults.
Title: DNA methylation near MAD1L1, KDM2B, and SOCS3 mediates the effect of socioeconomic status on elevated body mass index in African American adults.
MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population.
Title: MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population.
The HNF4A-CHPF pathway promotes proliferation and invasion through interactions with MAD1L1 in glioma.
Title: The HNF4A-CHPF pathway promotes proliferation and invasion through interactions with MAD1L1 in glioma.
Schizophrenia-associated Mitotic Arrest Deficient-1 (MAD1) regulates the polarity of migrating neurons in the developing neocortex.
Title: Schizophrenia-associated Mitotic Arrest Deficient-1 (MAD1) regulates the polarity of migrating neurons in the developing neocortex.
Methylation in MAD1L1 is associated with the severity of suicide attempt and phenotypes of depression.
Title: Methylation in MAD1L1 is associated with the severity of suicide attempt and phenotypes of depression.
Schizophrenia-associated differential DNA methylation in brain is distributed across the genome and annotated to MAD1L1, a locus at which DNA methylation and transcription phenotypes share genetic variation with schizophrenia risk.
Title: Schizophrenia-associated differential DNA methylation in brain is distributed across the genome and annotated to MAD1L1, a locus at which DNA methylation and transcription phenotypes share genetic variation with schizophrenia risk.
The Sin3A/MAD1 Complex, through Its PAH2 Domain, Acts as a Second Repressor of Retinoic Acid Receptor Beta Expression in Breast Cancer Cells.
Title: The Sin3A/MAD1 Complex, through Its PAH2 Domain, Acts as a Second Repressor of Retinoic Acid Receptor Beta Expression in Breast Cancer Cells.
Kinetochore protein MAD1 participates in the DNA damage response through ataxia-telangiectasia mutated kinase-mediated phosphorylation and enhanced interaction with KU80.
Title: Kinetochore protein MAD1 participates in the DNA damage response through ataxia-telangiectasia mutated kinase-mediated phosphorylation and enhanced interaction with KU80.
Prognostic Significance of the MAD1L1 1673 G: A Polymorphism in Ovarian Adenocarcinomas.
Title: Prognostic Significance of the MAD1L1 1673 G: A Polymorphism in Ovarian Adenocarcinomas.
Cyclin B1 scaffolds MAD1 at the kinetochore corona to activate the mitotic checkpoint.
Title: Cyclin B1 scaffolds MAD1 at the kinetochore corona to activate the mitotic checkpoint.

Submit: New GeneRIF Correction See all GeneRIFs (69)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Malignant tumor of prostate MedGen: C0376358 GeneReviews: Not available	not available
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MedGen: C5774284 OMIM: 620189 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Joint influence of small-effect genetic variants on human longevity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies four new loci associated with testicular germ cell tumor. EBI GWAS Catalog EBI GWAS CatalogPubMed
Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-32279 (e-PCR)
- UniSTS:73234

SHGC-56993 (e-PCR)
- UniSTS:78620

RH17785 (e-PCR)
- UniSTS:33566

SHGC-33698 (e-PCR)
- UniSTS:7217

D7S1579 (e-PCR)
- UniSTS:26428

NIB499 (e-PCR)
- UniSTS:47705

RH71224 (e-PCR)
- UniSTS:47968

SHGC-149461 (e-PCR)
- UniSTS:177020

RH119252 (e-PCR)
- UniSTS:133815

GDB:4585273 (e-PCR)
- UniSTS:42976

A008Z42 (e-PCR)
- UniSTS:44031

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinetochore binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in attachment of mitotic spindle microtubules to kinetochore	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cytoplasmic sequestering of protein	IDA Inferred from Direct Assay more info	PubMed
involved_in deactivation of mitotic spindle assembly checkpoint	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic spindle assembly checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle assembly checkpoint signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic spindle assembly checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic spindle assembly checkpoint signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of metaphase plate congression	IDA Inferred from Direct Assay more info	PubMed
involved_in thymus development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of MAD1 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in centrosome	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
colocalizes_with kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitotic spindle	IBA Inferred from Biological aspect of Ancestor more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
part_of mitotic spindle assembly checkpoint MAD1-MAD2 complex	IPI Inferred from Physical Interaction more info	PubMed
colocalizes_with mitotic spindle pole	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear pore nuclear basket	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: mitotic spindle assembly checkpoint protein MAD1

Names: MAD1 mitotic arrest deficient like 1; MAD1-like protein 1; mitotic arrest deficient 1-like protein 1; mitotic checkpoint MAD1 protein homolog; mitotic-arrest deficient 1, yeast, homolog-like 1; tax-binding protein 181; tumor protein p53 inducible protein 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011518.2 RefSeqGene

Range

5000..422150

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001013836.2 → NP_001013858.1 mitotic spindle assembly checkpoint protein MAD1 isoform a

See identical proteins and their annotated locations for NP_001013858.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform (a).

Source sequence(s)

AF123318, BC009964, BM818088, BU617803

Consensus CDS

CCDS43539.1

UniProtKB/Swiss-Prot

B3KR41, Q13312, Q75MI0, Q86UM4, Q9UNH0, Q9Y6D9

UniProtKB/TrEMBL

A4D218

Related

ENSP00000265854.7, ENST00000265854.12

Conserved Domains (1) summary

pfam05557
Location:54 → 716

MAD; Mitotic checkpoint protein
NM_001013837.2 → NP_001013859.1 mitotic spindle assembly checkpoint protein MAD1 isoform a

See identical proteins and their annotated locations for NP_001013859.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform (a).

Source sequence(s)

AF083811, AF123318, BM818088, BU617803

Consensus CDS

CCDS43539.1

UniProtKB/Swiss-Prot

B3KR41, Q13312, Q75MI0, Q86UM4, Q9UNH0, Q9Y6D9

UniProtKB/TrEMBL

A4D218

Related

ENSP00000385334.1, ENST00000406869.5

Conserved Domains (1) summary

pfam05557
Location:54 → 716

MAD; Mitotic checkpoint protein
NM_001304523.2 → NP_001291452.1 mitotic spindle assembly checkpoint protein MAD1 isoform a

See identical proteins and their annotated locations for NP_001291452.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform (a).

Source sequence(s)

AF083811, AK310831, AK314227, BU617803

Consensus CDS

CCDS43539.1

UniProtKB/Swiss-Prot

B3KR41, Q13312, Q75MI0, Q86UM4, Q9UNH0, Q9Y6D9

UniProtKB/TrEMBL

A4D218

Conserved Domains (1) summary

pfam05557
Location:54 → 716

MAD; Mitotic checkpoint protein
NM_001304524.2 → NP_001291453.1 mitotic spindle assembly checkpoint protein MAD1 isoform b precursor

See identical proteins and their annotated locations for NP_001291453.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks several exons in its 5' UTR and contains an alternate exon in the 5' coding region, compared to variant 1. This results in the use of an alternate start codon that results in a frameshift. The encoded isoform (b) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AK090959, AK310831

Consensus CDS

CCDS78201.1

UniProtKB/Swiss-Prot

Q9Y6D9

Related

ENSP00000384155.1, ENST00000402746.5

Conserved Domains (1) summary

pfam05557
Location:64 → 624

MAD; Mitotic checkpoint protein
NM_001304525.2 → NP_001291454.1 mitotic spindle assembly checkpoint protein MAD1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks most of the 5' coding region, contains an alternate 5'-terminal exon, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) has a much shorter N-terminus compared to isoform a.

Source sequence(s)

AC069288, BC018870, BG762406, BQ687750, BU617803

Conserved Domains (1) summary

pfam05557
Location:1 → 172

MAD; Mitotic checkpoint protein
NM_003550.3 → NP_003541.2 mitotic spindle assembly checkpoint protein MAD1 isoform a

See identical proteins and their annotated locations for NP_003541.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-4 encode the same isoform.

Source sequence(s)

AF123318, BM818088, BQ684437, BU617803

Consensus CDS

CCDS43539.1

UniProtKB/Swiss-Prot

B3KR41, Q13312, Q75MI0, Q86UM4, Q9UNH0, Q9Y6D9

UniProtKB/TrEMBL

A4D218

Related

ENSP00000382562.2, ENST00000399654.6

Conserved Domains (1) summary

pfam05557
Location:54 → 716

MAD; Mitotic checkpoint protein