About   Help   FAQ
Mad1l1 Gene Detail
Summary
  • Symbol
    Mad1l1
  • Name
    MAD1 mitotic arrest deficient 1-like 1
  • Synonyms
    Mad1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341857
    NCBI Gene: 17120
  • Gene Overview
    MyGene.info: MAD1L1
Location & Maps
more
  • Sequence Map
    Chr5:140008689-140321552 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      312864 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 78.82 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    MAD1L1, MAD1 mitotic arrest deficient like 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MAD1L1, MAD1 mitotic arrest deficient like 1
    Orthology source: HomoloGene
  • Synonyms
    MAD1, PIG9, TP53I9, TXBP181
  • Links
    NCBI Gene ID: 8379
    neXtProt AC: NX_Q9Y6D9

  • Chr Location
    7p22; chr7:1815792-2232948 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human MAD1L1 associations

Human Disease Mouse Models
       Prostate Cancer   OMIM: 176807
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    5 phenotypes from multigenic genotypes
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele die in utero. Aging heterozygous null mice show increased tumor incidence while heterozygous MEFs are more prone to aneuploidy, induce fibrosarcomas in athymic nude mice, and show a weaker spindle assembly checkpoint-mediated arrest n response to nocodazole.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030671 VEGA Gene Model | MGI Sequence Detail 312864 C57BL/6J ±  kb
transcript OTTMUST00000075923 VEGA | MGI Sequence Detail 2640 Not Applicable  
polypeptide OTTMUSP00000039890 VEGA | MGI Sequence Detail 717 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    196 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000010037 mitotic spindle assembly checkpoint protein MAD1
  • InterPro Domains
    IPR008672 Spindle assembly checkpoint component Mad1
Molecular
Reagents
less
  • All nucleic 58
    cDNA 58

    Microarray probesets 4
Other
Accession IDs
less
MGI:2140812, MGI:2141227
References
more
  • Summaries
    All 40
    Gene Ontology 7
    Phenotypes 13
  • Earliest
    J:53194 Jin DY, et al., Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5. Genomics. 1999 Feb 1;55(3):363-4
  • Latest
    J:176014 Fava LL, et al., Probing the in vivo function of Mad1:C-Mad2 in the spindle assembly checkpoint. EMBO J. 2011;30(16):3322-36

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory