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

Gene ID: 8379, updated on 9-Sep-2018

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; Vega:OTTHUMG00000151493
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; 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

Genomic context

See MAD1L1 in Genome Data Viewer
Location:
7p22.3
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (1815792..2232971, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (1855428..2272583, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375124 Neighboring gene extracellular leucine rich repeat and fibronectin type III domain containing 1 Neighboring gene ELFN1 antisense RNA 1 Neighboring gene uncharacterized LOC105375128 Neighboring gene uncharacterized LOC100127955 Neighboring gene microRNA 4655 Neighboring gene uncharacterized LOC105375127 Neighboring gene small nucleolar RNA, H/ACA box 114 Neighboring gene uncharacterized LOC105375126 Neighboring gene nudix hydrolase 1 Neighboring gene mitochondrial rRNA methyltransferase 2

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Malignant tumor of prostate
MedGen: C0376358 OMIM: 176807 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, organism-specific biosystem (from REACTOME)
    Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, organism-specific biosystemThe signal from unattached kinetochores is amplified through a Mad2 inhibitory signal that is propagated by the binding of Mad1 to the kinetochore, the association of Mad2 with Mad1, the conversion o...
  • Amplification of signal from the kinetochores, organism-specific biosystem (from REACTOME)
    Amplification of signal from the kinetochores, organism-specific biosystemA single unattached kinetochore is capable of preventing cells from exiting mitosis. The mitotic checkpoint provides a way for a localized defect to affect the global biochemical status of the cell...
  • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    C-MYB transcription factor network, organism-specific biosystem
    C-MYB transcription factor network
  • Cell Cycle, organism-specific biosystem (from WikiPathways)
    Cell Cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
    Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Cell cycle, organism-specific biosystem (from KEGG)
    Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Cell cycle, conserved biosystem (from KEGG)
    Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • Mitotic Spindle Checkpoint, organism-specific biosystem (from REACTOME)
    Mitotic Spindle Checkpoint, organism-specific biosystemThe mitotic checkpoint or spindle assembly checkpoint is an evolutionarily conserved mechanism that ensures that cells with misaligned chromosomes do not exit mitosis and divide to form aneuploid cel...
  • Progesterone-mediated oocyte maturation, organism-specific biosystem (from KEGG)
    Progesterone-mediated oocyte maturation, organism-specific biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
  • Progesterone-mediated oocyte maturation, conserved biosystem (from KEGG)
    Progesterone-mediated oocyte maturation, conserved biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Viral carcinogenesis, organism-specific biosystem (from KEGG)
    Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral carcinogenesis, conserved biosystem (from KEGG)
    Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinetochore binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
attachment of mitotic spindle microtubules to kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell division IEA
Inferred from Electronic Annotation
more info
 
mitotic cell cycle checkpoint NAS
Non-traceable Author Statement
more info
PubMed 
mitotic spindle assembly checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of metaphase plate congression IDA
Inferred from Direct Assay
more info
PubMed 
thymus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome NAS
Non-traceable Author Statement
more info
PubMed 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
mitotic spindle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with mitotic spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear pore IDA
Inferred from Direct Assay
more info
PubMed 
spindle NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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)

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

  1. NG_011518.1 RefSeqGene

    Range
    5001..422156
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001013836.1NP_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
    Q9Y6D9
    Conserved Domains (1) summary
    pfam05557
    Location:54716
    MAD; Mitotic checkpoint protein
  2. NM_001013837.1NP_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
    Q9Y6D9
    Related
    ENSP00000385334.1, OTTHUMP00000200099, ENST00000406869.5, OTTHUMT00000322871
    Conserved Domains (1) summary
    pfam05557
    Location:54716
    MAD; Mitotic checkpoint protein
  3. NM_001304523.1NP_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, BM818088, BU617803
    Consensus CDS
    CCDS43539.1
    UniProtKB/Swiss-Prot
    Q9Y6D9
    Related
    ENSP00000265854.7, ENST00000265854.11
    Conserved Domains (1) summary
    pfam05557
    Location:54716
    MAD; Mitotic checkpoint protein
  4. NM_001304524.1NP_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, BM818088, BU617803
    Consensus CDS
    CCDS78201.1
    UniProtKB/Swiss-Prot
    Q9Y6D9
    Related
    ENSP00000384155.1, OTTHUMP00000200098, ENST00000402746.5, OTTHUMT00000322870
    Conserved Domains (1) summary
    pfam05557
    Location:64624
    MAD; Mitotic checkpoint protein
  5. NM_001304525.1NP_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)
    BC018870, BG762406, BQ687750, BU617803
    Conserved Domains (1) summary
    pfam05557
    Location:1172
    MAD; Mitotic checkpoint protein
  6. NM_003550.2NP_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
    Q9Y6D9
    Related
    ENSP00000382562.2, OTTHUMP00000200097, ENST00000399654.6, OTTHUMT00000322869
    Conserved Domains (1) summary
    pfam05557
    Location:54716
    MAD; Mitotic checkpoint protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    1815792..2232971 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012690.1XP_016868179.1  mitotic spindle assembly checkpoint protein MAD1 isoform X1

  2. XM_024446951.1XP_024302719.1  mitotic spindle assembly checkpoint protein MAD1 isoform X2

    Conserved Domains (1) summary
    pfam05557
    Location:54697
    MAD; Mitotic checkpoint protein
  3. XM_024446952.1XP_024302720.1  mitotic spindle assembly checkpoint protein MAD1 isoform X2

    Conserved Domains (1) summary
    pfam05557
    Location:54697
    MAD; Mitotic checkpoint protein
  4. XM_005249877.1XP_005249934.1  mitotic spindle assembly checkpoint protein MAD1 isoform X3

    Conserved Domains (1) summary
    pfam05557
    Location:47669
    MAD; Mitotic checkpoint protein
  5. XM_017012691.2XP_016868180.1  mitotic spindle assembly checkpoint protein MAD1 isoform X6

    Conserved Domains (1) summary
    pfam05557
    Location:1306
    MAD; Mitotic checkpoint protein
  6. XM_011515571.1XP_011513873.1  mitotic spindle assembly checkpoint protein MAD1 isoform X6

    See identical proteins and their annotated locations for XP_011513873.1

    Conserved Domains (1) summary
    pfam05557
    Location:1306
    MAD; Mitotic checkpoint protein
  7. XM_011515569.3XP_011513871.2  mitotic spindle assembly checkpoint protein MAD1 isoform X5

  8. XM_011515568.3XP_011513870.1  mitotic spindle assembly checkpoint protein MAD1 isoform X4

    Conserved Domains (1) summary
    pfam05557
    Location:54472
    MAD; Mitotic checkpoint protein
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