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Aliases for KLF1 Gene

Aliases for KLF1 Gene

  • Kruppel-Like Factor 1 (Erythroid) 2 3
  • EKLF 3 4 6
  • Erythroid Krueppel-Like Transcription Factor 3 4
  • Erythroid Kruppel-Like Factor 2 3
  • HBFQTL6 3 6
  • CDAN4 3 6
  • INLU 3 6
  • Erythroid-Specific Transcription Factor EKLF 3
  • Monoclonal Antibody A3D8 3
  • Krueppel-Like Factor 1 3

External Ids for KLF1 Gene

Previous GeneCards Identifiers for KLF1 Gene

  • GC19M013127
  • GC19M013218
  • GC19M012840
  • GC19M012856
  • GC19M012995
  • GC19M012567

Summaries for KLF1 Gene

Entrez Gene Summary for KLF1 Gene

  • This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]

GeneCards Summary for KLF1 Gene

KLF1 (Kruppel-Like Factor 1 (Erythroid)) is a Protein Coding gene. Diseases associated with KLF1 include dyserythropoietic anemia, congenital, type iv and hereditary persistence of fetal hemoglobin - sickle cell disease. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is KLF2.

UniProtKB/Swiss-Prot for KLF1 Gene

  • Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters. When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLF1 Gene

Genomics for KLF1 Gene

Regulatory Elements for KLF1 Gene

Transcription factor binding sites by QIAGEN in the KLF1 gene promoter:

Genomic Location for KLF1 Gene

Start:
12,884,422 bp from pter
End:
12,887,203 bp from pter
Size:
2,782 bases
Orientation:
Minus strand

Genomic View for KLF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLF1 Gene

Proteins for KLF1 Gene

  • Protein details for KLF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13351-KLF1_HUMAN
    Recommended name:
    Krueppel-like factor 1
    Protein Accession:
    Q13351
    Secondary Accessions:
    • Q6PIJ5
    • Q92899

    Protein attributes for KLF1 Gene

    Size:
    362 amino acids
    Molecular mass:
    38221 Da
    Quaternary structure:
    • Interacts with PCAF; the interaction does not acetylate EKLF and inhibits its transactivation activity (By similarity). Interacts with CREBBP/CBP and EP300; the interactions enhance the transactivation activity. Interacts with TFB1.

    Three dimensional structures from OCA and Proteopedia for KLF1 Gene

neXtProt entry for KLF1 Gene

Proteomics data for KLF1 Gene at MOPED

Post-translational modifications for KLF1 Gene

  • Acetylated; can be acetylated on both Lys-274 and Lys-288. Acetylation on Lys-274 (by CBP) appears to be the major site affecting EKLF transactivation activity (By similarity).
  • Phosphorylated primarily on serine residues in the transactivation domain. Phosphorylation on Thr-23 is critical for the transactivation activity (By similarity).
  • Sumoylated; sumoylation, promoted by PIAS1, leads to repression of megakaryocyte differentiation. Also promotes the interaction with the CDH4 subunit of the NuRD repression complex (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLF1 Gene

Domains for KLF1 Gene

Gene Families for KLF1 Gene

HGNC:
  • KLF :Kruppel-like transcription factors
  • ZNF :Zinc fingers, C2H2-type

Protein Domains for KLF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13351

UniProtKB/Swiss-Prot:

KLF1_HUMAN :
  • Q13351
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Similarity:
  • Contains 3 C2H2-type zinc fingers.
genes like me logo Genes that share domains with KLF1: view

Function for KLF1 Gene

Molecular function for KLF1 Gene

GENATLAS Biochemistry: Kruppel-like factor 1(erythroid),zinc finger protein,red cell-specific transcription factor,binding to the CACCC site of the promoter,activating the beta globin synthesis in fetal liver and adult bone marrow
UniProtKB/Swiss-Prot Function: Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters. When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation.

Gene Ontology (GO) - Molecular Function for KLF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000987 core promoter proximal region sequence-specific DNA binding IDA 21539536
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 8924208
GO:0044212 transcription regulatory region DNA binding IDA 20676099
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with KLF1: view
genes like me logo Genes that share phenotypes with KLF1: view

Animal Models for KLF1 Gene

MGI Knock Outs for KLF1:
Targeting motifs for KLF1 Gene
HOMER Transcription Factor Regulatory Elements motif KLF1
  • Consensus sequence: NTGGGTGTGGCC Submotif: canonical Cell Type: Erythrocyte GeoId: GSE20478

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targeting for KLF1 Gene

Localization for KLF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLF1 Gene

Nucleus. Note=Colocalizes with SUMO1 in nuclear speckles. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLF1 Gene COMPARTMENTS Subcellular localization image for KLF1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for KLF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 21539536
GO:0005634 nucleus IDA 21055716
genes like me logo Genes that share ontologies with KLF1: view

Pathways for KLF1 Gene

SuperPathways for KLF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001889 liver development IEA --
GO:0006338 chromatin remodeling IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IMP 25585695
genes like me logo Genes that share ontologies with KLF1: view

No data available for Pathways by source for KLF1 Gene

Compounds for KLF1 Gene

(3) Novoseek inferred chemical compound relationships for KLF1 Gene

Compound -log(P) Hits PubMed IDs
zinc 58.8 19
lysine 9.98 1
serine 0 2
genes like me logo Genes that share compounds with KLF1: view

Transcripts for KLF1 Gene

mRNA/cDNA for KLF1 Gene

(16) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLF1 Gene

Kruppel-like factor 1 (erythroid):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KLF1 Gene

No ASD Table

Relevant External Links for KLF1 Gene

GeneLoc Exon Structure for
KLF1
ECgene alternative splicing isoforms for
KLF1

Expression for KLF1 Gene

mRNA expression in normal human tissues for KLF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLF1 Gene

This gene is overexpressed in Whole Blood (45.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KLF1 Gene

SOURCE GeneReport for Unigene cluster for KLF1 Gene Hs.37860

mRNA Expression by UniProt/SwissProt for KLF1 Gene

Q13351-KLF1_HUMAN
Tissue specificity: Expression restricted to adult bone marrow and fetal liver. Not expressed in myeloid nor lymphoid cell lines.
genes like me logo Genes that share expressions with KLF1: view

Orthologs for KLF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KLF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLF1 35
  • 99.54 (n)
  • 99.72 (a)
KLF1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KLF1 35
  • 85.65 (n)
  • 83.89 (a)
KLF1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLF1 35
  • 84.44 (n)
  • 83.33 (a)
KLF1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klf1 35
  • 74.86 (n)
  • 71.47 (a)
Klf1 16
Klf1 36
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLF1 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 22 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Klf1 35
  • 74.01 (n)
  • 71.19 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 34 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia KLF1 36
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii klfd 36
  • 29 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9895 37
  • 78 (a)
worm
(Caenorhabditis elegans)
Secernentea F53F8.1 37
  • 68 (a)
mua-1 37
  • 65 (a)
F56F11.3 37
  • 81 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NRG2 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for KLF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for KLF1 Gene

ENSEMBL:
Gene Tree for KLF1 (if available)
TreeFam:
Gene Tree for KLF1 (if available)

Paralogs for KLF1 Gene

Selected SIMAP similar genes for KLF1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with KLF1: view

Variants for KLF1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KLF1 Gene

Q13351-KLF1_HUMAN
Genetic variations in KLF1 underlie the blood group-Lutheran inhibitor (In(Lu)) phenotype [MIM:111150]; also known as dominant Lu (a-b-) phenotype. In(Lu) is characterized phenotypically by the apparent absence of the Lu antigen (BCAM) on red blood cells during serologic tests: Lu(a-b-)

Sequence variations from dbSNP and Humsavar for KLF1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs2072596 - 12,885,686(+) CGGGA(A/G)GTAGC missense, reference
rs2072597 - 12,885,926(+) CCCGG(A/G)GGCCT missense, reference
rs3817621 -- 12,887,391(+) GGTTG(C/G)GGGGT upstream-variant-2KB
rs8110787 -- 12,888,644(+) gagaa(C/T)tggtt upstream-variant-2KB
rs10407416 -- 12,886,919(+) CTCCT(C/G)TCCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLF1 Gene

Variant ID Type Subtype PubMed ID
dgv3733n71 CNV Loss 21882294
nsv911082 CNV Loss 21882294
nsv833754 CNV Loss 17160897

Relevant External Links for KLF1 Gene

HapMap Linkage Disequilibrium report
KLF1
Human Gene Mutation Database (HGMD)
KLF1
Locus Specific Mutation Databases (LSDB)
KLF1

Disorders for KLF1 Gene

(3) OMIM Diseases for KLF1 Gene (600599)

UniProtKB/Swiss-Prot

KLF1_HUMAN
  • Anemia, congenital dyserythropoietic, 4 (CDAN4) [MIM:613673]: A blood disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDA4 also have increased levels of fetal hemoglobin. {ECO:0000269 PubMed:21055716, ECO:0000269 PubMed:25585695}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for KLF1 Gene

(6) Novoseek inferred disease relationships for KLF1 Gene

Disease -log(P) Hits PubMed IDs
erythroleukemia 72.8 3
beta-thalassemia 56.2 6
hemoglobinopathies 35.6 1
anemia 14.2 2
hemolysis 5.95 1

Relevant External Links for KLF1

Genetic Association Database (GAD)
KLF1
Human Genome Epidemiology (HuGE) Navigator
KLF1
genes like me logo Genes that share disorders with KLF1: view

Publications for KLF1 Gene

  1. The human erythroid-specific transcription factor EKLF localizes to chromosome 19p13.12-p13.13. (PMID: 9119377) van Ree J.H. … Cunningham J.M. (Genomics 1997) 2 3 4 23
  2. Isolation, genomic structure, and expression of human erythroid Kruppel-like factor (EKLF). (PMID: 8924208) Bieker J.J. (DNA Cell Biol. 1996) 2 3 4 23
  3. Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype. (PMID: 18487511) Singleton B.K. … Anstee D.J. (Blood 2008) 3 4 23
  4. EKLF restricts megakaryocytic differentiation at the benefit of erythrocytic differentiation. (PMID: 18523154) Bouilloux F. … MorlAc F. (Blood 2008) 3 23
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4

Products for KLF1 Gene

Sources for KLF1 Gene

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