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

Gene ID: 8379, updated on 24-May-2020

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
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:
21
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (1815795..2232945, 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 Sharpr-MPRA regulatory region 12408 Neighboring gene uncharacterized LOC105375127 Neighboring gene small nucleolar RNA, H/ACA box 114 Neighboring gene uncharacterized LOC105375126 Neighboring gene Sharpr-MPRA regulatory region 7916 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

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 PubChem

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 
mitotic spindle assembly checkpoint IDA
Inferred from Direct Assay
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
cell IEA
Inferred from Electronic Annotation
more info
 
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 
colocalizes_with nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nuclear pore nuclear basket 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
    5004..422153
    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
    Q9Y6D9
    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
    Q9Y6D9
    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
    Q9Y6D9
    Related
    ENSP00000265854.7, ENST00000265854.11
    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
    Q9Y6D9
    Related
    ENSP00000382562.2, ENST00000399654.6
    Conserved Domains (1) summary
    pfam05557
    Location:54716
    MAD; Mitotic checkpoint protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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