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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
  • Alliance
    gene page
  • Transcription Start Sites
    20 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:139994444-140307307 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 78.82 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6472 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341857
 protein coding gene Chr5:139994444-140307346 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030295
 protein coding gene Chr5:145052651-145381502 (-)
A/J MGP_AJ_G0030264
 protein coding gene Chr5:138874194-139197524 (-)
AKR/J MGP_AKRJ_G0030196
 protein coding gene Chr5:143218304-143544375 (-)
BALB/cJ MGP_BALBcJ_G0030281
 protein coding gene Chr5:140124330-140442429 (-)
C3H/HeJ MGP_C3HHeJ_G0029992
 protein coding gene Chr5:143996692-144320996 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030726
 protein coding gene Chr5:150422708-150768713 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027944
 protein coding gene Chr5:132726256-133043595 (-)
CAST/EiJ MGP_CASTEiJ_G0029397
 protein coding gene Chr5:143414491-143754792 (-)
CBA/J MGP_CBAJ_G0029962
 protein coding gene Chr5:156621527-156956718 (-)
DBA/2J MGP_DBA2J_G0030112
 protein coding gene Chr5:138692428-139009843 (-)
FVB/NJ MGP_FVBNJ_G0030067
 protein coding gene Chr5:137830631-138152489 (-)
LP/J MGP_LPJ_G0030198
 protein coding gene Chr5:145663228-145995290 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030098
 protein coding gene Chr5:159217725-159550783 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030766
 protein coding gene Chr5:143051406-143376406 (-)
PWK/PhJ MGP_PWKPhJ_G0029112
 protein coding gene Chr5:137710045-138030891 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028948
 protein coding gene Chr5:140740241-141071952 (-)
WSB/EiJ MGP_WSBEiJ_G0029471
 protein coding gene Chr5:143833907-144160102 (-)



Homology
more
  • Human Ortholog
    MAD1L1, mitotic arrest deficient 1 like 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MAD1L1, mitotic arrest deficient 1 like 1
  • Synonyms
    MAD1, MVA7, PIG9, TP53I9, TXBP181
  • Links
    NCBI Gene ID: 8379
    neXtProt AC: NX_Q9Y6D9
    UniProt: Q9Y6D9

  • Chr Location
    7p22.3; chr7:1815793-2233243 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with human MAD1L1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 1 allele in 1 genetic background
    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
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  • All GO Annotations
    46
  • GO References
    15
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    718
  • Tissues
    12
  • cDNA Data
    59
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029554 Ensembl Gene Model | MGI Sequence Detail 312864 C57BL/6J ±  kb
    transcript ENSMUST00000031534 Ensembl | MGI Sequence Detail 2640 Not Applicable  
    polypeptide ENSMUSP00000031534 Ensembl | MGI Sequence Detail 717 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000010037 mitotic spindle assembly checkpoint protein MAD1
      (term hierarchy)
    • InterPro Domains
      IPR008672 Spindle assembly checkpoint component Mad1
    • GlyGen
      Q9WTX8 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 60
      cDNA 59
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2140812, MGI:2141227
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 2
      Gene Ontology 15
      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:357533 Copeland SE, et al., MAD1 upregulation sensitizes to inflammation-mediated tumor formation. PLoS Genet. 2024 Oct;20(10):e1011437
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory