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MAD2L1 mitotic arrest deficient 2 like 1 [ Homo sapiens (human) ]

Gene ID: 4085, updated on 6-Sep-2020

Summary

Official Symbol
MAD2L1provided by HGNC
Official Full Name
mitotic arrest deficient 2 like 1provided by HGNC
Primary source
HGNC:HGNC:6763
See related
Ensembl:ENSG00000164109 MIM:601467
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
MAD2; HSMAD2
Summary
MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008]
Expression
Broad expression in bone marrow (RPKM 15.9), lymph node (RPKM 15.1) and 23 other tissues See more
Orthologs

Genomic context

See MAD2L1 in Genome Data Viewer
Location:
4q27
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (120055623..120066848, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (120980577..120988013, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1365 Neighboring gene long intergenic non-protein coding RNA 2502 Neighboring gene LTV1 ribosome biogenesis factor pseudogene 1 Neighboring gene secretion associated Ras related GTPase 1A pseudogene 3

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
Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
GeneReviews: Not available
Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Activation of the spindle checkpoint proteins MAD2, BUB1, and BUBR1 is necessary for the activity of HIV-1 Tat to induce mitotic arrest and subsequent apoptosis PubMed

Go to the HIV-1, Human Interaction Database

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 
protein C-terminus binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anaphase-promoting complex-dependent catabolic process TAS
Traceable Author Statement
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
establishment of centrosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic cell cycle checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
mitotic cell cycle checkpoint IGI
Inferred from Genetic Interaction
more info
PubMed 
mitotic sister chromatid segregation IEA
Inferred from Electronic Annotation
more info
 
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 
mitotic spindle assembly checkpoint TAS
Traceable Author Statement
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of mitotic cell cycle spindle assembly checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitotic cell cycle phase transition TAS
Traceable Author Statement
more info
 
ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
chromosome IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
nuclear pore nuclear basket IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
mitotic spindle assembly checkpoint protein MAD2A
Names
MAD2 (mitotic arrest deficient, yeast, homolog)-like 1
MAD2 mitotic arrest deficient-like 1
MAD2-like protein 1
mitotic arrest deficient 2-like protein 1
mitotic arrest deficient, yeast, homolog-like 1

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.

mRNA and Protein(s)

  1. NM_002358.4NP_002349.1  mitotic spindle assembly checkpoint protein MAD2A

    See identical proteins and their annotated locations for NP_002349.1

    Status: REVIEWED

    Source sequence(s)
    AA443733, AC097173, AK223433, AK313827, BC000356
    Consensus CDS
    CCDS3715.1
    UniProtKB/Swiss-Prot
    Q13257
    Related
    ENSP00000296509.5, ENST00000296509.11
    Conserved Domains (1) summary
    pfam02301
    Location:16191
    HORMA; HORMA domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    120055623..120066848 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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