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

    Gene ID: 10661, updated on 11-Jun-2021

    Summary

    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
    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; EKLF/KLF1
    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
    NEW
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    Genomic context

    See KLF1 in Genome Data Viewer
    Location:
    19p13.13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (12884422..12887201, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12995236..12998015, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated DNASE2 regulatory element Neighboring gene CRISPRi-FlowFISH-validated DNASE2 regulatory element Neighboring gene CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element Neighboring gene CRISPRi-FlowFISH-validated CALR, DHPS, JUNB, PRDX2, RAD23A, RNASEH2A and WDR83OS regulatory element Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element Neighboring gene glutaryl-CoA dehydrogenase

    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

    Associated conditions

    Description Tests
    BLOOD GROUP--LUTHERAN INHIBITOR
    MedGen: C1292231 OMIM: 111150 GeneReviews: Not available
    Compare labs
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    GeneReviews: Not available
    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    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 nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    Krueppel-like factor 1
    Names
    erythroid Kruppel-like factor
    erythroid krueppel-like transcription factor
    erythroid-specific transcription factor EKLF
    truncated Kruppel-like factor 1
    truncated erythroid Kruppel-like factor EKLF/KLF1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_006563.5NP_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, ENST00000264834.6
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      12884422..12887201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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