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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

Aliases
Kruppel-Like Factor 1 (Erythroid)1 2     INLU2 5
EKLF2 3 5     Erythroid-Specific Transcription Factor EKLF2
Erythroid Kruppel-Like Factor1 2     Krueppel-Like Factor 12
Erythroid Krueppel-Like Transcription Factor2 3     Monoclonal Antibody A3D82
HBFQTL62 5     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 blood disorders, and congenital dyserythropoietic anemia type iv. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLF1 gene promoter:
         AML1a   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus. Note=Colocalizes with SUMO1 in nuclear speckles (By similarity)
1 PDB 3D structure from and Proteopedia for KLF1:
2L2I (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:

  • UniProtKB: 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)
  • UniProtKB: 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)
  • UniProtKB: Phosphorylated primarily on serine residues in the transactivation domain. Phosphorylation on Thr-23 is critical
    for the transactivation activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13351

  • KLF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KLF1 Protein Expression
    REFSEQ proteins: NP_006554.1  
    ENSEMBL proteins: 
     ENSP00000264834  

    Human Recombinant Protein Products for KLF1: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KLF1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    KLF1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5 molecular function terms (GO ID links to tree view):    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:0008270zinc ion binding ----
    GO:0044212transcription regulatory region DNA binding IDA--
    GO:0046872metal ion binding IEA--
         
    KLF1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 4 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 - Custom generated mouse model solutions for KLF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KLF1

       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 

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate KLF1:
    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


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KLF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/18 Interacting proteins for KLF1 (Q133512, 3 ENSP000002648344) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    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-dependent IEA--
    GO:0030218erythrocyte differentiation IMP--

    KLF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KLF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about KLF1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate KLF1:
    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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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLF1
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      QIAGEN 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:

    BC040000 BU656901 BC033580 BX098640 NM_006563 AI040588 U65404 H65734 
    BI523767 H60702 H60701 AI381849 H65733 BI913441 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KLF1 expression in normal human tissues (normalized intensities)      KLF1 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Proerythroblasts Hematopoietic Bone Marrow
             Bone Marrow CD105+ Cells   
             bone marrow   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Bone Marrow
             bone marrow   
     
     Heart (Cardiovascular System)
             Cardiac Crescent Cells Cardiac Crescent

    See KLF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLF1

    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

        SABiosciences Expression via Pathway-Focused PCR Array including KLF1: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLF1

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KLF1 gene from 3/12 species (see all 12)    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 76.27(n)1
    73.45(a)1
      8 (41.30 cM)5
    165961  NM_010635.21  NP_034765.21 
     849019285 
    chicken
    (Gallus gallus)
    Aves KLF11 Kruppel-like factor 1 (erythroid) 58.56(n)
    51.05(a)
      424577  XM_422416.3  XP_422416.3 
    lizard
    (Anolis carolinensis)
    Reptilia KLF16
    Uncharacterized protein
    49(a)
    1 → many
    2(27730578-27739658)


    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)
    About This Section
    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  
    18/263 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: KLF1_HUMAN, Q13351
    Polymorphism: 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
    Polymorphism: 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-)


    10/106 SNPs in KLF1 are shown (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
    Congenital dyserythropoietic anemia 4 (CDA4)4--see VAR_0649012 E K mis40--------
    VAR_0581114
    ----see VAR_0581112 R G mis40--------
    VAR_0581104
    ----see VAR_0581102 R L mis40--------
    VAR_0581094
    ----see VAR_0581092 R H mis40--------
    VAR_0581084
    ----see VAR_0581082 H Y 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--------

    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
    SABiosciences Cancer Mutation 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.)
    About This Section
    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

  • 18 diseases for KLF1:    About MalaCards
    blood disorders    congenital dyserythropoietic anemia type iv    glanders    hemoglobinopathy
    hereditary persistence of fetal hemoglobin    congenital dyserythropoietic anemia    beta thalassemia    thalassemia
    sickle cell disease    paralysis    thrombocytopenia    anemia
    acute myeloid leukemia    hypoxia    myeloid leukemia    thyroiditis
    leukemia    endotheliitis

    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)
    About This Section

    PubMed articles for KLF1 gene, integrated from 9 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. (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. (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. (2008)
    4. Structural and functional characterization of an atyp ical activation domain in erythroid Kruppel-like factor (EKLF). (PubMed id 21670263)1, 2 Mas C....Omichinski J.G. (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. (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. (2010)
    7. Haploinsufficiency for the erythroid transcription fa ctor KLF1 causes hereditary persistence of fetal hemoglobin. (PubMed id 20676099)1, 2 Borg J....Philipsen S. (2010)
    8. Single nucleotide polymorphisms in the gene encoding Kruppel-like factor 7 are associated with type 2 diabetes. (PubMed id 15937668)1, 4 Kanazawa A....Maeda S. (2005)
    9. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    10. Regulation of erythroid Kruppel-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. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10661 HGNC: 6345 AceView: KLF1 Ensembl:ENSG00000105610 euGenes: HUgn10661
    ECgene: KLF1 H-InvDB: KLF1

    (According to HUGE)
    About This Section
      --

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