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KLF4 KLF transcription factor 4 [ Homo sapiens (human) ]

Gene ID: 9314, updated on 6-Nov-2022

Summary

Official Symbol
KLF4provided by HGNC
Official Full Name
KLF transcription factor 4provided by HGNC
Primary source
HGNC:HGNC:6348
See related
Ensembl:ENSG00000136826 MIM:602253; AllianceGenome:HGNC:6348
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]
Expression
Broad expression in colon (RPKM 75.2), esophagus (RPKM 73.6) and 22 other tissues See more
Orthologs
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Genomic context

See KLF4 in Genome Data Viewer
Location:
9q31.2
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (107484852..107489769, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (119656625..119661541, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (110247133..110252050, 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 peptidylprolyl isomerase A pseudogene 88

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II sequence-specific DNA-binding transcription factor recruiting activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables RNA polymerase II-specific DNA-binding transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables promoter-specific chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription cis-regulatory region binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to laminar fluid shear stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
involved_in defense response to tumor cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epidermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in epidermis morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of skin barrier IEA
Inferred from Electronic Annotation
more info
 
involved_in fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glandular epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in mesodermal cell fate determination TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell migration involved in sprouting angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of chemokine (C-X-C motif) ligand 2 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of heterotypic cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of inflammatory response TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of interleukin-8 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of leukocyte adhesion to arterial endothelial cell IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of response to cytokine stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of DNA-templated transcription NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of core promoter binding IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of hemoglobin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of miRNA transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of nitric oxide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein metabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of protein metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of sprouting angiogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in post-embryonic camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
involved_in post-embryonic hemopoiesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of axon regeneration IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of blastocyst development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
involved_in somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in euchromatin IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
Krueppel-like factor 4
Names
Kruppel like factor 4
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

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_001314052.2NP_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, AL359552, AL360218, BC030811
    UniProtKB/Swiss-Prot
    O43474, Q9UNP3
    Related
    ENST00000493306.1
    Conserved Domains (4) summary
    COG5048
    Location:425508
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:432454
    ZF_C2H2; C2H2 Zn finger [structural motif]
    cl41729
    Location:7430
    KLF1_2_4_N; N-terminal domain of Kruppel-like factor (KLF) 1, KLF2, KLF4, and similar proteins
    pfam13465
    Location:476501
    zf-H2C2_2; Zinc-finger double domain
  2. NM_004235.6NP_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
    ENSP00000363804.4, ENST00000374672.5
    Conserved Domains (4) summary
    COG5048
    Location:391474
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:398420
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:442467
    zf-H2C2_2; Zinc-finger double domain
    cd21582
    Location:7396
    KLF4_N; N-terminal domain of Kruppel-like factor 4

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    107484852..107489769 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    119656625..119661541 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)