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    KDF1 keratinocyte differentiation factor 1 [ Homo sapiens (human) ]

    Gene ID: 126695, updated on 17-Jun-2024

    Summary

    Official Symbol
    KDF1provided by HGNC
    Official Full Name
    keratinocyte differentiation factor 1provided by HGNC
    Primary source
    HGNC:HGNC:26624
    See related
    Ensembl:ENSG00000175707 MIM:616758; AllianceGenome:HGNC:26624
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ECTD12; C1orf172
    Summary
    Predicted to be involved in several processes, including positive regulation of epidermal cell differentiation; regulation of epidermal cell division; and skin development. Predicted to act upstream of or within keratinocyte development and negative regulation of keratinocyte proliferation. Located in cell junction; mitotic spindle; and nucleoplasm. Implicated in ectodermal dysplasia 12. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in thyroid (RPKM 5.3), duodenum (RPKM 5.2) and 18 other tissues See more
    Orthologs
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    Genomic context

    See KDF1 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26949562..26960468, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26787618..26798705, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27276053..27286959, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 529 Neighboring gene G-patch domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 530 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27232113-27232613 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27232651-27233152 Neighboring gene nuclear distribution C, dynein complex regulator Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27241933-27242433 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:27245085-27245285 Neighboring gene nuclear receptor subfamily 0 group B member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 531 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27248501-27249042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 498 Neighboring gene Sharpr-MPRA regulatory region 10310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27286397-27287079 Neighboring gene Sharpr-MPRA regulatory region 5798 Neighboring gene negCOR silencer S3 Neighboring gene ribosomal protein L12 pseudogene 13 Neighboring gene ribosomal protein L32 pseudogene 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ34633

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in developmental growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in establishment of skin barrier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in keratinocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb epidermis development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in morphogenesis of embryonic epithelium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of stem cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of epidermal cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of epidermal cell division IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of epidermal cell division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell leading edge IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    keratinocyte differentiation factor 1
    Names
    RP11-344H11.3

    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_152365.3NP_689578.2  keratinocyte differentiation factor 1

      See identical proteins and their annotated locations for NP_689578.2

      Status: VALIDATED

      Source sequence(s)
      AK091952, AL356390, BC033143, DA041083
      Consensus CDS
      CCDS293.1
      UniProtKB/Swiss-Prot
      Q5QP32, Q8N0S7, Q8NAX2
      Related
      ENSP00000319179.5, ENST00000320567.6
      Conserved Domains (1) summary
      pfam15551
      Location:48398
      DUF4656; Domain of unknown function (DUF4656)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      26949562..26960468 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540622.3XP_011538924.1  keratinocyte differentiation factor 1 isoform X1

      See identical proteins and their annotated locations for XP_011538924.1

      UniProtKB/Swiss-Prot
      Q5QP32, Q8N0S7, Q8NAX2
      Conserved Domains (1) summary
      pfam15551
      Location:48398
      DUF4656; Domain of unknown function (DUF4656)
    2. XM_005245735.3XP_005245792.1  keratinocyte differentiation factor 1 isoform X1

      See identical proteins and their annotated locations for XP_005245792.1

      UniProtKB/Swiss-Prot
      Q5QP32, Q8N0S7, Q8NAX2
      Conserved Domains (1) summary
      pfam15551
      Location:48398
      DUF4656; Domain of unknown function (DUF4656)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      26787618..26798705 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334249.1XP_054190224.1  keratinocyte differentiation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q5QP32, Q8N0S7, Q8NAX2
    2. XM_054334248.1XP_054190223.1  keratinocyte differentiation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q5QP32, Q8N0S7, Q8NAX2