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    KLF1 Kruppel like factor 1 [ Homo sapiens (human) ]

    Gene ID: 10661, updated on 4-Feb-2018
    Official Symbol
    KLF1provided by HGNC
    Official Full Name
    Kruppel like factor 1provided by HGNC
    Primary source
    HGNC:HGNC:6345
    See related
    Ensembl:ENSG00000105610 MIM:600599; Vega:OTTHUMG00000180536
    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
    EKLF
    Summary
    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]
    Expression
    Restricted expression toward bone marrow (RPKM 14.0) See more
    Orthologs
    Location:
    19p13.13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (12884422..12887203, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12995236..12998017, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene microtubule associated serine/threonine kinase 1 Neighboring gene microRNA 6794 Neighboring gene deoxyribonuclease 2, lysosomal Neighboring gene ribosomal protein S6 pseudogene 25 Neighboring gene glutaryl-CoA dehydrogenase Neighboring gene synaptonemal complex central element protein 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    BLOOD GROUP--LUTHERAN INHIBITOR
    MedGen: C1292231 OMIM: 111150 GeneReviews: Not available
    Compare labs
    Congenital dyserythropoietic anemia, type IV
    MedGen: C3150926 OMIM: 613673 GeneReviews: Not available
    Compare labs
    Fetal hemoglobin quantitative trait locus 6
    MedGen: C3150805 OMIM: 613566 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    NHGRI GWA Catalog
    • Hematopoietic Stem Cell Differentiation, organism-specific biosystem (from WikiPathways)
      Hematopoietic Stem Cell Differentiation, organism-specific biosystemGrowth factors and miRNA regulating differentiation of hematopoietic stem cells (HSC) to various blood-related cell types. Note that myeloblasts branch off separately from erythrocytes and megakaryoc...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    proximal promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to peptide IEA
    Inferred from Electronic Annotation
    more info
     
    erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    maternal process involved in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    Krueppel-like factor 1
    Names
    erythroid Kruppel-like factor
    erythroid krueppel-like transcription factor
    erythroid-specific transcription factor EKLF

    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.

    Genomic

    1. NG_013087.1 RefSeqGene

      Range
      5001..7782
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_825

    mRNA and Protein(s)

    1. NM_006563.4NP_006554.1  Krueppel-like factor 1

      See identical proteins and their annotated locations for NP_006554.1

      Status: REVIEWED

      Source sequence(s)
      AD000092, BC040000
      Consensus CDS
      CCDS12285.1
      UniProtKB/Swiss-Prot
      Q13351
      Related
      ENSP00000264834.3, OTTHUMP00000264568, ENST00000264834.4, OTTHUMT00000451794
      Conserved Domains (6) summary
      COG5048
      Location:281361
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:284303
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:279303
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:325350
      zf-H2C2_2; Zinc-finger double domain
      pfam16832
      Location:2242
      EKLF_TAD1; Erythroid krueppel-like transcription factor, transactivation 1
      pfam16833
      Location:5985
      EKLF_TAD2; Erythroid krueppel-like transcription factor, transactivation 2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      12884422..12887203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527642.2XP_011525944.1  Krueppel-like factor 1 isoform X1

      Conserved Domains (5) summary
      COG5048
      Location:243323
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:246265
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:241265
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:287312
      zf-H2C2_2; Zinc-finger double domain
      pfam16833
      Location:2147
      EKLF_TAD2; Erythroid krueppel-like transcription factor, transactivation 2

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      12995734..12998515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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