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KLF1 KLF transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 10661, updated on 18-Sep-2024

Summary

Official Symbol
KLF1provided by HGNC
Official Full Name
KLF transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:6345
See related
Ensembl:ENSG00000105610 MIM:600599; AllianceGenome:HGNC:6345
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
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Genomic context

See KLF1 in Genome Data Viewer
Location:
19p13.13
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12884422..12887201, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (13008871..13011650, complement)
RS_2024_09 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 microtubule associated serine/threonine kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12963003-12963503 Neighboring gene microRNA 6794 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:12975591-12976379 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:12976380-12977167 Neighboring gene Sharpr-MPRA regulatory region 6054 Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element 1 Neighboring gene deoxyribonuclease 2, lysosomal Neighboring gene CRISPRi-FlowFISH-validated DNASE2 regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated DNASE2 regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10180 Neighboring gene CRISPRi-FlowFISH-validated CALR, DHPS, JUNB, PRDX2, RAD23A, RNASEH2A and WDR83OS regulatory element Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14090 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:13001481-13002118 and GRCh37_chr19:13002119-13002756 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:13010146-13011345 Neighboring gene ribosomal protein S6 pseudogene 25 Neighboring gene glutaryl-CoA dehydrogenase Neighboring gene synaptonemal complex central element protein 2 Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:13021591-13021759 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13022560-13023262 Neighboring gene Sharpr-MPRA regulatory region 4901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14092

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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
Congenital dyserythropoietic anemia type 4
MedGen: C3150926 OMIM: 613673 GeneReviews: Not available
Compare labs
Fetal hemoglobin quantitative trait locus 6
MedGen: C3150805 OMIM: 613566 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
Kruppel like factor 1
erythroid Kruppel-like factor
erythroid krueppel-like transcription factor
erythroid-specific transcription factor EKLF

NCBI Reference Sequences (RefSeq)

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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, Q6PIJ5, Q92899
    UniProtKB/TrEMBL
    A0A223PZB5
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    13008871..13011650 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)