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

Gene ID: 10661, updated on 13-Feb-2019

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

Genomic context

See KLF1 in Genome Data Viewer
Location:
19p13.13
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cellular response to peptide IEA
Inferred from Electronic Annotation
more info
 
erythrocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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, ENST00000264834.5
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 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
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