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Kdf1 keratinocyte differentiation factor 1 [ Mus musculus (house mouse) ]

Gene ID: 69073, updated on 2-Nov-2024

Summary

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Official Symbol
Kdf1provided by MGI
Official Full Name
keratinocyte differentiation factor 1provided by MGI
Primary source
MGI:MGI:1916323
See related
Ensembl:ENSMUSG00000037600 AllianceGenome:MGI:1916323
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
1810019J16Rik
Summary
Involved in several processes, including positive regulation of epidermal cell differentiation; regulation of epidermal cell division; and skin epidermis development. Acts upstream of or within keratinocyte development and negative regulation of keratinocyte proliferation. Located in cell cortex; cell junction; and cell leading edge. Is expressed in several structures, including alimentary system; choroid plexus; lower urinary tract; olfactory epithelium; and skin. Human ortholog(s) of this gene implicated in ectodermal dysplasia 12. Orthologous to human KDF1 (keratinocyte differentiation factor 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in duodenum adult (RPKM 31.6), colon adult (RPKM 21.1) and 14 other tissues See more
Orthologs
human all
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Genomic context

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See Kdf1 in Genome Data Viewer
Location:
4 D2.3; 4 66.25 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (133246274..133258101)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (133518733..133530790)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene terminal nucleotidyltransferase 5B Neighboring gene predicted gene 13257 Neighboring gene STARR-positive B cell enhancer ABC_E4676 Neighboring gene TMF1-regulated nuclear protein 1 Neighboring gene predicted gene, 42323 Neighboring gene nudC nuclear distribution protein Neighboring gene STARR-positive B cell enhancer ABC_E2127 Neighboring gene nuclear receptor subfamily 0, group B, member 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cells. Lee S, et al. Dev Biol, 2013 Nov 15. PMID 24075906, Free PMC Article
  2. Regulation of epidermal differentiation through KDF1-mediated deubiquitination of IKKα. Li Y, et al. EMBO Rep, 2020 May 6. PMID 32239614, Free PMC Article
  3. Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia. Carninci P, et al. Genome Res, 2003 Jun. PMID 12819125, Free PMC Article
  4. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249
  5. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Regulation of epidermal differentiation through KDF1-mediated deubiquitination of IKKalpha.
    Title: Regulation of epidermal differentiation through KDF1-mediated deubiquitination of IKKα.
  2. The Keratinocyte differentiation factor 1 is an essential regulator of the proliferation-differentiation balance in epidermal progenitor cells.
    Title: Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cells.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1)  1 citation
  • Targeted (1) 

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in developmental growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in establishment of skin barrier IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within keratinocyte development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within keratinocyte development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of keratinocyte proliferation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in limb epidermis development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in morphogenesis of embryonic epithelium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of keratinocyte proliferation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within negative regulation of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of stem cell proliferation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within negative regulation of stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of epidermal cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of epidermal cell division IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of epidermal cell division IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of stem cell proliferation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
  
located_in cell cortex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cell junction IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell leading edge IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
keratinocyte differentiation factor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001083916.1 → NP_001077385.1  keratinocyte differentiation factor 1

    See identical proteins and their annotated locations for NP_001077385.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK007551, BF318332, BG069889, BY028727, BY230091, BY781417
    Consensus CDS
    CCDS38905.1
    UniProtKB/Swiss-Prot
    A2A9F4, Q8C1Q5
    UniProtKB/TrEMBL
    A8Y5H9
    Related
    ENSMUSP00000101521.2, ENSMUST00000105901.2
    Conserved Domains (1) summary
    pfam15551
    Location:48 → 397
    DUF4656; Domain of unknown function (DUF4656)

  2. NM_133707.2 → NP_598468.2  keratinocyte differentiation factor 1

    See identical proteins and their annotated locations for NP_598468.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK007551, BF318332, BG069889, BY028727, BY781417
    Consensus CDS
    CCDS38905.1
    UniProtKB/Swiss-Prot
    A2A9F4, Q8C1Q5
    UniProtKB/TrEMBL
    A8Y5H9
    Related
    ENSMUSP00000048768.10, ENSMUST00000042919.16
    Conserved Domains (1) summary
    pfam15551
    Location:48 → 397
    DUF4656; Domain of unknown function (DUF4656)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    133246274..133258101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006539151.5 → XP_006539214.1  keratinocyte differentiation factor 1 isoform X1

    See identical proteins and their annotated locations for XP_006539214.1

    UniProtKB/Swiss-Prot
    A2A9F4, Q8C1Q5
    UniProtKB/TrEMBL
    A8Y5H9
    Conserved Domains (1) summary
    pfam15551
    Location:48 → 397
    DUF4656; Domain of unknown function (DUF4656)

  2. XM_006539150.5 → XP_006539213.1  keratinocyte differentiation factor 1 isoform X1

    See identical proteins and their annotated locations for XP_006539213.1

    UniProtKB/Swiss-Prot
    A2A9F4, Q8C1Q5
    UniProtKB/TrEMBL
    A8Y5H9
    Conserved Domains (1) summary
    pfam15551
    Location:48 → 397
    DUF4656; Domain of unknown function (DUF4656)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2A9F4.1 GenPept UniProtKB/Swiss-Prot:A2A9F4

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