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Kdf1 Gene Detail
Summary
  • Symbol
    Kdf1
  • Name
    keratinocyte differentiation factor 1
  • Synonyms
    1810019J16Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916323
    NCBI Gene: 69073
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:133246274-133258101 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 66.25 cM, cytoband D3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    445 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916323
 protein coding gene Chr4:133246274-133258101 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028896
 protein coding gene Chr4:135774029-135793049 (+)
A/J MGP_AJ_G0028855
 protein coding gene Chr4:130096354-130107963 (+)
AKR/J MGP_AKRJ_G0028808
 protein coding gene Chr4:133792741-133806544 (+)
BALB/cJ MGP_BALBcJ_G0028878
 protein coding gene Chr4:130723074-130739454 (+)
C3H/HeJ MGP_C3HHeJ_G0028592
 protein coding gene Chr4:134040162-134051829 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029320
 protein coding gene Chr4:140653322-140666962 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026591
 protein coding gene Chr4:123167240-123178387 (+)
CAST/EiJ MGP_CASTEiJ_G0028025
 protein coding gene Chr4:132159984-132171825 (+)
CBA/J MGP_CBAJ_G0028558
 protein coding gene Chr4:144342526-144354668 (+)
DBA/2J MGP_DBA2J_G0028707
 protein coding gene Chr4:130514490-130526690 (+)
FVB/NJ MGP_FVBNJ_G0028674
 protein coding gene Chr4:129392155-129403786 (+)
LP/J MGP_LPJ_G0028808
 protein coding gene Chr4:135894821-135906886 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028700
 protein coding gene Chr4:148843419-148855370 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029358
 protein coding gene Chr4:134216787-134230622 (+)
PWK/PhJ MGP_PWKPhJ_G0027746
 protein coding gene Chr4:127232833-127244849 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027572
 protein coding gene Chr4:130048661-130060567 (+)
WSB/EiJ MGP_WSBEiJ_G0028105
 protein coding gene Chr4:134393580-134407166 (+)



Homology
more
  • Human Ortholog
    KDF1, keratinocyte differentiation factor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KDF1, keratinocyte differentiation factor 1
  • Synonyms
    C1orf172, ECTD12
  • Links
    NCBI Gene ID: 126695
    neXtProt AC: NX_Q8NAX2
    UniProt: Q8NAX2

  • Chr Location
    1p36.11; chr1:26949562-26960468 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human KDF1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 2 alleles in 3 genetic backgrounds
    8 phenotypes from multigenic genotypes
    11 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 an ENU-induced allele exhibit neonatal lethality, short limbs, increased keratinocyte proliferation and impaired keratinocyte differentiation with epidermis overgrowth that covers ear and mouth openings and fuses the hindlimb, tail and genitals.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    3
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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
    812
  • Tissues
    27
  • cDNA Data
    32
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 69073 NCBI Gene Model | MGI Sequence Detail 11828 C57BL/6J ±  kb
    transcript NM_001083916 RefSeq | MGI Sequence Detail 1804 C57BL/6  
    polypeptide A2A9F4 UniProt | EBI | MGI Sequence Detail 397 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 34
      cDNA 33
      Other 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 2
      Gene Ontology 3
      Phenotypes 11
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:292743 Li Y, et al., Regulation of epidermal differentiation through KDF1-mediated deubiquitination of IKKalpha. EMBO Rep. 2020 May 6;21(5):e48566
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory