Klf1 Kruppel-like transcription factor 1 (erythroid) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Klf1provided by MGI
Official Full Name: Kruppel-like transcription factor 1 (erythroid)provided by MGI
Primary source: MGI:MGI:1342771
See related: Ensembl:ENSMUSG00000054191 AllianceGenome:MGI:1342771
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Nan; Eklf
Summary: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in erythrocyte differentiation; positive regulation of gene expression; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including hemopoiesis; in utero embryonic development; and liver development. Predicted to be located in chromatin and nucleoplasm. Is expressed in several structures, including extraembryonic component; hemolymphoid system; olfactory placode; testis; and urethra. Used to study beta thalassemia and hereditary spherocytosis. Human ortholog(s) of this gene implicated in congenital dyserythropoietic anemia type IV. Orthologous to human KLF1 (KLF transcription factor 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in liver E14.5 (RPKM 150.9), liver E14 (RPKM 122.7) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 41.3 cM; 8 C3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (85628611..85631920)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (84901982..84905291)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in linker-2 of KLF1 impair expression of membrane transporters and cytoskeletal proteins causing hemolysis.
Title: Mutations in linker-2 of KLF1 impair expression of membrane transporters and cytoskeletal proteins causing hemolysis.
EKLF/Klf1 regulates erythroid transcription by its pioneering activity and selective control of RNA Pol II pause-release.
Title: EKLF/Klf1 regulates erythroid transcription by its pioneering activity and selective control of RNA Pol II pause-release.
Zkscan3 affects erythroblast development by regulating the transcriptional activity of GATA1 and KLF1 in mice.
Title: Zkscan3 affects erythroblast development by regulating the transcriptional activity of GATA1 and KLF1 in mice.
EKLF/KLF1 expression defines a unique macrophage subset during mouse erythropoiesis.
Title: EKLF/KLF1 expression defines a unique macrophage subset during mouse erythropoiesis.
A Positive Regulatory Feedback Loop between EKLF/KLF1 and TAL1/SCL Sustaining the Erythropoiesis.
Title: A Positive Regulatory Feedback Loop between EKLF/KLF1 and TAL1/SCL Sustaining the Erythropoiesis.
Negative Regulation of the Differentiation of Flk2(-) CD34(-) LSK Hematopoietic Stem Cells by EKLF/KLF1.
Title: Negative Regulation of the Differentiation of Flk2(-) CD34(-) LSK Hematopoietic Stem Cells by EKLF/KLF1.
Study shows that embryos from KLF1 Nan variant have defects in erythroid maturation.
Title: The mouse KLF1 Nan variant impairs nuclear condensation and erythroid maturation.
Mutant Nan-KLF1 leads to extensive and progressive transcriptome corruption in adult spleen erythroid precursors such that stress erythropoiesis is severely compromised.
Title: Mutant KLF1 in Adult Anemic Nan Mice Leads to Profound Transcriptome Changes and Disordered Erythropoiesis.
Insight into the mechanism of Congenital Dyserythropoietic Anemia Type IV which is caused by a point mutation in the DNA-binding domain of KLF1. This mutation alters the DNA binding specificity of KLF1 and this leads to aberrant binding in vivo at a few thousand sites scattered across the genome.
Title: Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors.
data indicate that the cytotoxic effect of IFN-beta activation in CMEI contribute to the impairment of definitive erythropoiesis associated with Klf1 deprivation
Title: Deficiency in interferon type 1 receptor improves definitive erythropoiesis in Klf1 null mice.

Submit: New GeneRIF Correction See all GeneRIFs (59)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (4)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:484911

Klf1 (e-PCR), detects polymorphism
- UniSTS:143696

Klf1 (e-PCR), detects polymorphism
- UniSTS:461924

Klf1 (e-PCR), detects polymorphism
- UniSTS:547445

Klf1 (e-PCR), detects polymorphism
- UniSTS:259514

NoName (e-PCR)
- UniSTS:224711

Klf1 (e-PCR), detects polymorphism
- UniSTS:532432

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype 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 binding	IPI Inferred from Physical Interaction more info	PubMed
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 RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within embryonic hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within erythrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in erythrocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within erythrocyte maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: Krueppel-like factor 1

Names: Kruppel-like factor 1 (erythroid); erythroid krueppel-like transcription factor; erythroid transcription factor; neonatal anemia

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.

mRNA and Protein(s)

NM_010635.3 → NP_034765.3 Krueppel-like factor 1

Status: VALIDATED

Source sequence(s)

AC161765

Consensus CDS

CCDS22483.1

UniProtKB/Swiss-Prot

O70261, P46099

UniProtKB/TrEMBL

E9QNP6

Related

ENSMUSP00000064366.9, ENSMUST00000067060.10

Conserved Domains (4) summary

COG5048
Location:279 → 357

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

sd00017
Location:280 → 299

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam16832
Location:22 → 39

EKLF_TAD1; Erythroid krueppel-like transcription factor, transactivation 1

pfam16833
Location:63 → 85

EKLF_TAD2; Erythroid krueppel-like transcription factor, transactivation 2