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

    Gene ID: 69073, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Biased expression in duodenum adult (RPKM 31.6), colon adult (RPKM 21.1) and 14 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    General gene information

    Markers

    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

    Preferred Names
    keratinocyte differentiation factor 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001083916.1NP_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:48397
      DUF4656; Domain of unknown function (DUF4656)
    2. NM_133707.2NP_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:48397
      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_006539151.5XP_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:48397
      DUF4656; Domain of unknown function (DUF4656)
    2. XM_006539150.5XP_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:48397
      DUF4656; Domain of unknown function (DUF4656)