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    KLF4 Kruppel like factor 4 [ Homo sapiens (human) ]

    Gene ID: 9314, updated on 17-Jul-2016
    Official Symbol
    KLF4provided by HGNC
    Official Full Name
    Kruppel like factor 4provided by HGNC
    Primary source
    HGNC:HGNC:6348
    See related
    Ensembl:ENSG00000136826 MIM:602253; Vega:OTTHUMG00000020449
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EZF; GKLF
    Summary
    This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
    Orthologs
    Location:
    9q31
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (107484852..107489720, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (110247133..110252047, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1509 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 32 Neighboring gene RNA, U6 small nuclear 492, pseudogene Neighboring gene uncharacterized LOC105376206 Neighboring gene uncharacterized LOC105376205 Neighboring gene RNA, U6 small nuclear 996, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study in Chinese men identifies two new prostate cancer risk loci at 9q31.2 and 19q13.4.
    NHGRI GWA Catalog
    Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
    NHGRI GWA Catalog
    The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    RNA polymerase II transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    beta-catenin binding IEA
    Inferred from Electronic Annotation
    more info
     
    core promoter binding IEA
    Inferred from Electronic Annotation
    more info
     
    core promoter proximal region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone deacetylase binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol 3-kinase regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription cofactor binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, sequence-specific DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding transcription factor recruiting ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription regulatory region DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II transcription factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to cycloheximide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to laminar fluid shear stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to peptide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    epidermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    epidermis morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesodermal cell fate determination TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell migration involved in sprouting angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of chemokine (C-X-C motif) ligand 2 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of heterotypic cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of inflammatory response TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of interleukin-8 biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of leukocyte adhesion to arterial endothelial cell IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of muscle hyperplasia IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of phosphatidylinositol 3-kinase signaling IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein kinase B signaling IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of response to cytokine stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cellular protein metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of hemoglobin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of nitric oxide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of telomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription regulatory region DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    post-embryonic camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of axon regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of phosphatidylinositol 3-kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    somatic stem cell population maintenance TAS
    Traceable Author Statement
    more info
     
    stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear euchromatin IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    Krueppel-like factor 4
    Names
    Kruppel-like factor 4 (gut)
    endothelial Kruppel-like zinc finger protein
    epithelial zinc finger protein EZF
    gut Kruppel-like factor
    gut-enriched krueppel-like factor

    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_001314052.1NP_001300981.1  Krueppel-like factor 4 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1, also known as GKLFa).
      Source sequence(s)
      AF105036, AL360218, BC030811
      UniProtKB/Swiss-Prot
      O43474
      Conserved Domains (3) summary
      COG5048
      Location:425508
      COG5048; FOG: Zn-finger [General function prediction only]
      pfam13465
      Location:476501
      zf-H2C2_2; Zinc-finger double domain
      sd00017
      Location:432454
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. NM_004235.5NP_004226.3  Krueppel-like factor 4 isoform 2

      See identical proteins and their annotated locations for NP_004226.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF105036, AL360218, BU739190
      Consensus CDS
      CCDS6770.2
      UniProtKB/Swiss-Prot
      O43474
      Related
      ENSP00000363804, OTTHUMP00000021862, ENST00000374672, OTTHUMT00000053556
      Conserved Domains (3) summary
      COG5048
      Location:391474
      COG5048; FOG: Zn-finger [General function prediction only]
      pfam13465
      Location:442467
      zf-H2C2_2; Zinc-finger double domain
      sd00017
      Location:398420
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      107484852..107489720 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      110393822..110398611 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)