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Kdm1a Gene Detail
Summary
  • Symbol
    Kdm1a
  • Name
    lysine (K)-specific demethylase 1A
  • Synonyms
    1810043O07Rik, Aof2, Kdm1, LSD1, mKIAA0601
  • Feature Type
    protein coding gene
  • IDs
    MGI:1196256
    NCBI Gene: 99982
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:136277851-136330034 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 68.80 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    446 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1196256
 protein coding gene Chr4:136277844-136330127 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028969
 protein coding gene Chr4:139128954-139181019 (-)
A/J MGP_AJ_G0028928
 protein coding gene Chr4:133188185-133240972 (-)
AKR/J MGP_AKRJ_G0028880
 protein coding gene Chr4:137035289-137088663 (-)
BALB/cJ MGP_BALBcJ_G0028952
 protein coding gene Chr4:133857254-133909780 (-)
C3H/HeJ MGP_C3HHeJ_G0028666
 protein coding gene Chr4:137324398-137376836 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029393
 protein coding gene Chr4:144093822-144148435 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026664
 protein coding gene Chr4:126226888-126281292 (-)
CAST/EiJ MGP_CASTEiJ_G0028098
 protein coding gene Chr4:135480459-135535453 (-)
CBA/J MGP_CBAJ_G0028631
 protein coding gene Chr4:148041679-148098545 (-)
DBA/2J MGP_DBA2J_G0028780
 protein coding gene Chr4:133602859-133655647 (-)
FVB/NJ MGP_FVBNJ_G0028747
 protein coding gene Chr4:132553095-132605895 (-)
LP/J MGP_LPJ_G0028879
 protein coding gene Chr4:139209101-139263888 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028773
 protein coding gene Chr4:152213654-152272612 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029431
 protein coding gene Chr4:137519260-137573606 (-)
PWK/PhJ MGP_PWKPhJ_G0027818
 protein coding gene Chr4:130386480-130439131 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027644
 protein coding gene Chr4:133308847-133363584 (-)
WSB/EiJ MGP_WSBEiJ_G0028176
 protein coding gene Chr4:137672491-137725736 (-)



Homology
more
  • Human Ortholog
    KDM1A, lysine demethylase 1A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KDM1A, lysine demethylase 1A
  • Synonyms
    AOF2, BHC110, CPRF, KDM1, LSD1
  • Links
    NCBI Gene ID: 23028
    neXtProt AC: NX_O60341
    UniProt: O60341

  • Chr Location
    1p36.12; chr1:23019443-23083689 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    80 phenotypes from 9 alleles in 10 genetic backgrounds
    4 phenotypes from multigenic genotypes
    68 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.
Homozygous disruption of this gene results in abnormal gastrulation and early embryonic lethality. Homozygotes lacking the neurospecific isoform are hypoexcitable and display decreased susceptibility to pharmacologically induced seizures. Homozygotes for a hypomorphic allele die perinatally exhibiting heart defects, including ventricular septal defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    158
  • GO References
    26
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1548
  • Tissues
    563
  • cDNA Data
    10
  • Literature Summary
    29
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036940 Ensembl Gene Model | MGI Sequence Detail 52184 C57BL/6J ±  kb
    transcript ENSMUST00000105847 Ensembl | MGI Sequence Detail 3028 Not Applicable  
    polypeptide ENSMUSP00000101473 Ensembl | MGI Sequence Detail 873 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 10
      Primer pair 8
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1917041, MGI:2140140
    References
    more
    • Summaries
      All 161
      Developmental Gene Expression 29
      Gene Ontology 26
      Phenotypes 68
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:346052 Del Blanco B, et al., Kdm1a safeguards the topological boundaries of PRC2-repressed genes and prevents aging-related euchromatinization in neurons. Nat Commun. 2024 Mar 7;15(1):1781
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory