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

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: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (12884422..12887201, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (13008871..13011650, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (12995236..12998015, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.
Title: Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.
VPS37C facilitates erythroid differentiation by promoting EKLF stability.
Title: VPS37C facilitates erythroid differentiation by promoting EKLF stability.
Identification of a genomic DNA sequence that quantitatively modulates KLF1 transcription factor expression in differentiating human hematopoietic cells.
Title: Identification of a genomic DNA sequence that quantitatively modulates KLF1 transcription factor expression in differentiating human hematopoietic cells.
Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.
Title: Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.
Kruppel-like factor 1 serves as a facilitator in gastric cancer progression via activating the Wnt/beta-catenin pathway.
Title: Krüppel-like factor 1 serves as a facilitator in gastric cancer progression via activating the Wnt/β-catenin pathway.
Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts.
Title: Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts.
Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.
Title: Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.
Kruppel-like factor 1 (KLF1) promoted the proliferation, migration and invasion of human lens epithelial cells by enhancing the expression of Zinc Finger and BTB Domain Containing 7A (ZBTB7A) and activating Wnt/beta-catenin pathway.
Title: Krüppel-like factor 1 (KLF1) promoted the proliferation, migration and invasion of human lens epithelial cells by enhancing the expression of Zinc Finger and BTB Domain Containing 7A (ZBTB7A) and activating Wnt/β-catenin pathway.
Two brothers with a novel KLF1 mutation.
Title: Two brothers with a novel KLF1 mutation.
Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.
Title: Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.

Submit: New GeneRIF Correction See all GeneRIFs (105)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin binding	EXP Inferred from Experiment more info	PubMed
enables ubiquitin binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to peptide	IEA Inferred from Electronic Annotation more info
involved_in erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maternal process involved in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in protein destabilization	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
part_of 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

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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

NG_013087.1 RefSeqGene

Range

5001..7782

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_825

mRNA and Protein(s)

NM_006563.5 → NP_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:281 → 361

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:284 → 303

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:279 → 303

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:325 → 350

zf-H2C2_2; Zinc-finger double domain

pfam16832
Location:22 → 42

EKLF_TAD1; Erythroid krueppel-like transcription factor, transactivation 1

pfam16833
Location:59 → 85

EKLF_TAD2; Erythroid krueppel-like transcription factor, transactivation 2