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

    Gene ID: 8379, updated on 3-May-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MAD1L1 in Genome Data Viewer
    Location:
    7p22.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (1815795..2232945, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (1928871..2346389, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (1855431..2272580, 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 H3K4me1 hESC enhancer GRCh37_chr7:1764307-1764893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1772549-1773050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25499 Neighboring gene ELFN1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1847611-1848112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1848113-1848612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1852667-1853242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1878277-1879182 Neighboring gene uncharacterized LOC100127955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1887449-1888158 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1896343-1897150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1897151-1897958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1897959-1898765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1900385-1901202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1901203-1902019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1902954-1903628 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98143 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1913269-1914241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1923010-1923799 Neighboring gene microRNA 4655 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:1930010-1930510 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:1930511-1931011 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:1940274-1941134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1951951-1952584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1952585-1953218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1951273-1951773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1970348-1971296 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1979601-1980186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1985471-1986286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1986287-1987101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1994453-1995177 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1997460-1998140 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:2000936-2002135 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:2019399-2020598 Neighboring gene uncharacterized LOC124901573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2037703-2038424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2041223-2042211 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2054673-2054929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2059628-2060447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2071047-2071728 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2072411-2073090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2089101-2089704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2095767-2096320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2094763-2095278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2096321-2096873 Neighboring gene Sharpr-MPRA regulatory region 15277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2109248-2109803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2109804-2110358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2112531-2113084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2113104-2113604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2117862-2118431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2118432-2119000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2119001-2119570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2119571-2120138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2143023-2143689 Neighboring gene Sharpr-MPRA regulatory region 12408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2145023-2145690 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:2149574-2150773 Neighboring gene uncharacterized LOC105375127 Neighboring gene small nucleolar RNA, H/ACA box 114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2163326-2163826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2168979-2169576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2168381-2168978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2167782-2168380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2179597-2180202 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2187008-2187194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2197373-2198322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2198323-2199271 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2205752-2205962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2207917-2208590 Neighboring gene Sharpr-MPRA regulatory region 12216 Neighboring gene uncharacterized LOC105375126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2242330-2243304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2248383-2248916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17863 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2272476-2272854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2273433-2273965 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:2276450-2277649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2280373-2281224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25514 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Malignant tumor of prostate
    MedGen: C0376358 OMIM: 176807 GeneReviews: Not available
    Compare labs
    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
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    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
    GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog
    Joint influence of small-effect genetic variants on human longevity.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog
    Meta-analysis identifies four new loci associated with testicular germ cell tumor.
    EBI GWAS Catalog
    Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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 cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in kinetochore IBA
    Inferred from Biological aspect of Ancestor
    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 
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 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)

    NEW Try the new Transcript table

    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_011518.2 RefSeqGene

      Range
      5000..422150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001013836.2NP_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:54716
      MAD; Mitotic checkpoint protein
    2. NM_001013837.2NP_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:54716
      MAD; Mitotic checkpoint protein
    3. NM_001304523.2NP_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:54716
      MAD; Mitotic checkpoint protein
    4. NM_001304524.2NP_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:64624
      MAD; Mitotic checkpoint protein
    5. NM_001304525.2NP_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:1172
      MAD; Mitotic checkpoint protein
    6. NM_003550.3NP_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:54716
      MAD; Mitotic checkpoint protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      1815795..2232945 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      1928871..2346389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)