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Kmt5a Gene Detail
Summary
  • Symbol
    Kmt5a
  • Name
    lysine methyltransferase 5A
  • Synonyms
    2410195B05Rik, PR-SET7, Setd8
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915206
    NCBI Gene: 67956
  • Alliance
    gene page
  • Transcription Start Sites
    34 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:124577993-124600371 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 63.59 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    516 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915206
 protein coding gene Chr5:124577980-124600371 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030095
 protein coding gene Chr5:128257872-128286747 (+)
A/J MGP_AJ_G0030060
 protein coding gene Chr5:122913919-122936654 (+)
AKR/J MGP_AKRJ_G0029996
 protein coding gene Chr5:126876563-126900366 (+)
BALB/cJ MGP_BALBcJ_G0030071
 protein coding gene Chr5:124248545-124270919 (+)
C3H/HeJ MGP_C3HHeJ_G0029788
 protein coding gene Chr5:127493482-127516839 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030524
 protein coding gene Chr5:133232157-133256449 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027750
 protein coding gene Chr5:117438464-117460488 (+)
CAST/EiJ MGP_CASTEiJ_G0029197
 protein coding gene Chr5:126601633-126624106 (+)
CBA/J MGP_CBAJ_G0029758
 protein coding gene Chr5:138465569-138489178 (+)
DBA/2J MGP_DBA2J_G0029908
 protein coding gene Chr5:122932788-122955196 (+)
FVB/NJ no annotation
LP/J MGP_LPJ_G0029997
 protein coding gene Chr5:128797923-128823865 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029895
 protein coding gene Chr5:142029454-142055075 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030565
 protein coding gene Chr5:126496392-126523764 (+)
PWK/PhJ MGP_PWKPhJ_G0028911
 protein coding gene Chr5:121754979-121777831 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028748
 protein coding gene Chr5:124125328-124146378 (+)
WSB/EiJ MGP_WSBEiJ_G0029271
 protein coding gene Chr5:127183570-127207540 (+)



Homology
more
  • Human Ortholog
    KMT5A, lysine methyltransferase 5A
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KMT5A, lysine methyltransferase 5A
  • Synonyms
    PR/SET07, PR-Set7, SET07, SET8, SETD8
  • Links
    NCBI Gene ID: 387893
    neXtProt AC: NX_Q9NQR1
    UniProt: Q9NQR1

  • Chr Location
    12q24.31; chr12:123384132-123409353 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 3 alleles in 3 genetic backgrounds
    28 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 gene trapped allele exhibit embryonic lethality. Mice homozygous for an allele lacking exon 7 die prior to implantation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    8
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
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
    718
  • Tissues
    8
  • cDNA Data
    17
  • Literature Summary
    8
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000049327 Ensembl Gene Model | MGI Sequence Detail 22379 C57BL/6J ±  kb
transcript ENSMUST00000100709 Ensembl | MGI Sequence Detail 1425 Not Applicable  
polypeptide ENSMUSP00000098275 Ensembl | MGI Sequence Detail 364 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 20
    cDNA 17
    Primer pair 1
    Other 2

    Microarray probesets 4
Other
Accession IDs
less
MGI:2138801, MGI:2141208
References
more
  • Summaries
    All 67
    Developmental Gene Expression 8
    Gene Ontology 8
    Phenotypes 28
  • Earliest
    J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
  • Latest
    J:351379 Galanopoulou O, et al., Endonucleosis mediates internalization of cytoplasm into the nucleus. Nat Commun. 2024 Jul 11;15(1):5843
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
11/19/2024
MGI 6.24 		The Jackson Laboratory