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KLF1 Gene

protein-coding   GIFtS: 59
GCID: GC19M012995

Kruppel-Like Factor 1 (Erythroid)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Kruppel-Like Factor 1 (Erythroid)1 2     HBFQTL62 5
EKLF2 3 5     INLU2 5
Erythroid Kruppel-Like Factor1 2     Erythroid-Specific Transcription Factor EKLF2
Erythroid Krueppel-Like Transcription Factor2 3     Krueppel-Like Factor 12
CDAN42 5     Monoclonal Antibody A3D82

External Ids:    HGNC: 63451   Entrez Gene: 106612   Ensembl: ENSG000001056107   OMIM: 6005995   UniProtKB: Q133513   

Export aliases for KLF1 gene to outside databases

Previous GC identifers: GC19M013127 GC19M013218 GC19M012840 GC19M012856 GC19M012567


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 congenital dyserythropoietic anemia type iv, and glanders. GO annotations related to this gene include core promoter proximal region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SP8.

UniProtKB/Swiss-Prot: KLF1_HUMAN, Q13351
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 (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLF1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLF1 promoter sequence
   Search Chromatin IP Primers for KLF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

KLF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLF1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M012995:  view genomic region     (about GC identifiers)

Start:
12,995,236 bp from pter      End:
12,998,017 bp from pter
Size:
2,782 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KLF1_HUMAN, Q13351 (See protein sequence)
Recommended Name: Krueppel-like factor 1  
Size: 362 amino acids; 38221 Da
Subunit: 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
2 PDB 3D structures from and Proteopedia for KLF1:
2L2I (3D)        2MBH (3D)    
Secondary accessions: Q6PIJ5 Q92899

Explore the universe of human proteins at neXtProt for KLF1: NX_Q13351

Explore proteomics data for KLF1 at MOPED

Post-translational modifications: 

  • 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)1
  • 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)1
  • Phosphorylated primarily on serine residues in the transactivation domain. Phosphorylation on Thr-23 is critical
    for the transactivation activity (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KLF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006554.1  
    ENSEMBL proteins: 
     ENSP00000264834  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZNF: Zinc fingers, C2H2-type
    KLF: Kruppel-like transcription factors

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q13351

    ProtoNet protein and cluster: Q13351

    1 Blocks protein domain: IPB007086 C2H2-type zinc finger signature

    UniProtKB/Swiss-Prot: KLF1_HUMAN, Q13351
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 3 C2H2-type zinc fingers


    KLF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KLF1_HUMAN, Q13351
    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 (By similarity)

         Genatlas biochemistry entry for KLF1:
    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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000987core promoter proximal region sequence-specific DNA binding IDA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS8924208
    GO:0044212transcription regulatory region DNA binding IDA--
    GO:0046872metal ion binding IEA--
         
    KLF1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Klf1):
     embryogenesis  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  mortality/aging  renal/urinary system 

    KLF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Klf1tm1Sho for KLF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLF1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KLF1

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  NTGGGTGTGGCC 

    miRNA
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    hsa-miR-4314 hsa-miR-593 hsa-miR-330-5p hsa-miR-326 hsa-miR-1182
    SwitchGear 3'UTR luciferase reporter plasmidKLF1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KLF1_HUMAN, Q13351: Nucleus. Note=Colocalizes with SUMO1 in nuclear speckles (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA--
    GO:0005634nucleus IDA--

    KLF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including KLF1: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KLF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for KLF1 (Q133512, 3 ENSP000002648344) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG482, 3, ENSP000003448184MINT-1891511 I2D: score=1 STRING: ENSP00000344818
    CSNK2A2P197843, ENSP000002625064I2D: score=3 STRING: ENSP00000262506
    SMARCB1Q128243, ENSP000002631214I2D: score=3 STRING: ENSP00000263121
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    ARID1AO144973, ENSP000003204854I2D: score=1 STRING: ENSP00000320485
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001889liver development IEA--
    GO:0006338chromatin remodeling IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0030218erythrocyte differentiation IMP--

    KLF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KLF1

    3 Novoseek inferred chemical compound relationships for KLF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 58.8 19 11287616 (3), 9422764 (2), 11018012 (2), 7829533 (1) (see all 15)
    lysine 9.98 1 18710946 (1)
    serine 0 4 9722526 (2)



    KLF1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KLF1 gene: 
    NM_006563.3  

    Unigene Cluster for KLF1:

    Kruppel-like factor 1 (erythroid)
    Hs.37860  [show with all ESTs]
    Unigene Representative Sequence: BC033580
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000264834(uc002mvo.3)
    miRNA
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    hsa-miR-4314 hsa-miR-593 hsa-miR-330-5p hsa-miR-326 hsa-miR-1182
    SwitchGear 3'UTR luciferase reporter plasmidKLF1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat KLF1

    Additional mRNA sequence: 

    BC033580.1 BC040000.1 U65404.1 

    1 DOTS entry:

    DT.110933 

    16 AceView cDNA sequences:

    BU656901 BX098640 BC040000 NM_006563 BC033580 H65734 AI040588 U65404 
    BI523767 H65733 AI381849 BI913441 H60701 H60702 AI739130 H69638 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KLF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCCGGGTC
    KLF1 Expression
    About this image


    KLF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow
     
     Heart (Cardiovascular System)
             Cardiac Crescent Cells Cardiac Crescent
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     NULL (Uncategorized)
             Embryoid bodies
    KLF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.37860

    UniProtKB/Swiss-Prot: KLF1_HUMAN, Q13351
    Tissue specificity: Expression restricted to adult bone marrow and fetal liver. Not expressed in myeloid nor
    lymphoid cell lines

        Pathway & Disease-focused RT2 Profiler PCR Array including KLF1: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KLF1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klf11 , 5 Kruppel-like factor 1 (erythroid)1, 5 74.86(n)1
    71.47(a)1
      8 (41.30 cM)5
    165961  NM_010635.21  NP_034765.21 
     849019285 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    34(a)
    many ↔ many
    8(19315964-19319691)
    lizard
    (Anolis carolinensis)
    Reptilia KLF16
    Kruppel-like factor 1 (erythroid)
    53(a)
    1 ↔ 1
    2(27730578-27739658)
    zebrafish
    (Danio rerio)
    Actinopterygii klfd6
    Kruppel-like factor d
    29(a)
    1 ↔ 1
    6(9655243-9666658) ENSDARG00000017400


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLF1 gene
    SP82  KLF172  KLF52  KLF142  SP62  KLF152  KLF22  KLF72  
    KLF82  KLF132  SP42  KLF112  SP32  SP52  KLF62  SP22  
    KLF102  KLF42  SP12  KLF162  KLF122  KLF32  KLF92  SP72  
    SP92  
    Selected SIMAP similar genes for KLF1 using alignment to 9 protein entries:     KLF1_HUMAN (see all proteins) (see all similar genes):
    DKFZp686N0199    KLF4    KLF6    KLF7    KLF13    ZNF565
    ZNF516    ZKSCAN1    ZNF227    ZNF286A    ZNF7    ZNF841
    ZNF880    BCL11A    ZNF28    ZSCAN5D    ZNF135    ZNF78L1

    KLF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    KLF1_HUMAN, Q13351: Genetic variations in KLF1 underlie the fetal hemoglobin quantitative trait locus 6 (HBFQTL6)
    [MIM:613566]. Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial
    elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic
    manifestations. In healthy adults, fetal hemoglobin (HbF) is present at residual levels (less than 0.06% of total
    hemoglobin) with over 20-fold variation. Ten to fifteen percent of adults fall within the upper tail of the
    distribution
    KLF1_HUMAN, Q13351: 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-)


    Selected SNPs for KLF1 (see all 106)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0649014
    Anemia, congenital dyserythropoietic, 4 (CDAN4)4--see VAR_0649012 E K mis40--------
    rs1179220421,2
    F--12931808(+) ATCTCC/TCATTT 1 -- ds50011Minor allele frequency- T:0.01EA 120
    rs1487091081,2
    --12931845(+) CTCTAC/TTGCAA 1 -- ds50010--------
    rs1424577341,2
    --12931880(+) CTATCC/TGGACA 1 -- ds50010--------
    rs1513150531,2
    --12931957(+) GTCAAG/TGTCCG 1 -- ds50010--------
    rs1407108241,2
    --12931992(+) ACAGTA/GTAGCC 1 -- ds50010--------
    rs1876546221,2
    --12932063(+) GTTGAA/GGGGTG 1 -- ds50010--------
    rs1921392261,2
    --12932259(+) TTCAGG/TAGCCG 1 -- ut310--------
    rs1465998871,2
    C--12932300(+) CATCCC/TACACC 1 -- ut310--------
    rs169787541,2
    C,F,H--12932351(+) GTCCAC/TTGAGT 1 -- ut31 ese321Minor allele frequency- T:0.09NA NS EA WA CSA 1886

    HapMap Linkage Disequilibrium report for KLF1 (12995236 - 12998017 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KLF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911082CNV Loss21882294
    nsv833754CNV Loss17160897
    dgv3733n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): KLF1
    Locus Specific Mutation Databases (LSDB): KLF1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600599   
    OMIM disorders: 111150  613566  613673  
    UniProtKB/Swiss-Prot: KLF1_HUMAN, Q13351
  • Congenital dyserythropoietic anemia 4 (CDA4) [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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20 diseases for KLF1:    
    About MalaCards
    congenital dyserythropoietic anemia type iv    glanders    congenital dyserythropoietic anemia    hemoglobinopathy
    hereditary persistence of fetal hemoglobin    hereditary persistence of fetal hemoglobin - sickle cell disease    5q- syndrome    beta thalassemia
    thalassemia    sickle cell disease    diamond-blackfan anemia    thrombocytopenia
    acute myeloid leukemia    hypoxia    myeloid leukemia    endotheliitis
    multiple myeloma    thyroiditis    myeloma    leukemia

    2 diseases from the University of Copenhagen DISEASES database for KLF1:
    Anemia     Thalassemia

    KLF1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for KLF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythroleukemia 72.8 4 7829533 (1), 18523154 (1), 11092887 (1)
    beta-thalassemia 56.2 6 8288615 (3), 7829533 (1), 8924208 (1), 15352994 (1)
    hemoglobinopathies 35.6 1 10688844 (1)
    anemia 14.2 4 16728274 (1), 16380451 (1)
    hemolysis 5.95 1 10688844 (1)
    leukemia 0 1

    Genetic Association Database (GAD): KLF1
    Human Genome Epidemiology (HuGE) Navigator: KLF1 (2 documents)

    Export disorders for KLF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KLF1 gene, integrated from 10 sources (see all 132):
    (articles sorted by number of sources associating them with KLF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation, genomic structure, and expression of human erythroid Kruppel-like factor (EKLF). (PubMed id 8924208)1, 2, 3, 9 Bieker J.J. (DNA Cell Biol. 1996)
    2. The human erythroid-specific transcription factor EKLF localizes to chromosome 19p13.12-p13.13. (PubMed id 9119377)1, 2, 3, 9 van Ree J.H.... Cunningham J.M. (Genomics 1997)
    3. Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype. (PubMed id 18487511)1, 2, 9 Singleton B.K.... Anstee D.J. (Blood 2008)
    4. Structural and functional characterization of an atypical activation domain in erythroid Kruppel-like factor (EKLF). (PubMed id 21670263)1, 2 Mas C.... Omichinski J.G. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    5. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. (PubMed id 21055716)1, 2 Arnaud L.... Cartron J.P. (Am. J. Hum. Genet. 2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. (PubMed id 20676099)1, 2 Borg J.... Philipsen S. (Nat. Genet. 2010)
    8. Single nucleotide polymorphisms in the gene encoding KrA1ppel-like factor 7 are associated with type 2 diabetes. (PubMed id 15937668)1, 4 Kanazawa A....Maeda S. (Diabetologia 2005)
    9. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    10. Regulation of erythroid KrA1ppel-like factor (EKLF) transcriptional activity by phosphorylation of a protein kinase casein kinase II site within its interaction domain. (PubMed id 9722526)1, 9 Ouyang L....Bieker J.J. (J. Biol. Chem. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10661 HGNC: 6345 AceView: KLF1 Ensembl:ENSG00000105610 euGenes: HUgn10661
    ECgene: KLF1 H-InvDB: KLF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KLF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KLF1 gene:
    Search GeneIP for patents involving KLF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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