KLF1 - KLF transcription factor 1 Gene

Also Known as EKLF; EKLF/KLF1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10661

About KLF1

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,884,422-12,887,201 (from NCBI)

This gene has 1 transcript (splice variant), 101 orthologues, 22 paralogues and is associated with 7 phenotypes. Restricted expression toward bone marrow (RPKM 14.0).

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]

KLF1 Products (1)

mRNA	Protein	Name
NM_006563.5	NP_006554.1	Krueppel-like factor 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	21539536	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21670263	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	20676099	GOA
enables ubiquitin binding	EXP EXP: Inferred from Experiment	24139988	GOA
enables ubiquitin binding	IMP IMP: Inferred from mutant phenotype	24139988	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in erythrocyte differentiation	IMP IMP: Inferred from mutant phenotype	21055716	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	15084587	GOA
involved in protein destabilization	IEP IEP: Inferred from expression pattern	24139988	GOA
involved in regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	25585695	GOA
involved in ubiquitin-dependent protein catabolic process	IEP IEP: Inferred from expression pattern	24139988	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	21539536	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21055716	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KLF1 Protein Structure

zf-H2C2_2

0
100
200
300
362 a.a.

Protein Preferred Names	Protein Names
Krueppel-like factor 1	Kruppel like factor 1

KLF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KLF1	Q13351	CCDC57	Homo sapiens	Q2TAC2-2	Validated Y2H	32296183
Intra	KLF1	Q13351	PATZ1	Homo sapiens	Q9HBE1-4	Validated Y2H	32296183
Intra	KLF1	Q13351	RBPMS2	Homo sapiens	Q6ZRY4	Validated Y2H	32296183
Cross	KLF1	Q13351	TFB1	Saccharomyces cerevisiae	P32776	ITC	21670263
Cross	KLF1	Q13351	TFB1	Saccharomyces cerevisiae	P32776	NMR	21670263
Intra	KLF1	Q13351	RBM4B	Homo sapiens	Q9BQ04	Validated Y2H	32296183
Intra	KLF1	Q13351	GTF2H1	Homo sapiens	P32780	ITC	21670263
Intra	KLF1	Q13351	GTF2H1	Homo sapiens	P32780	NMR	21670263
Intra	KLF1	Q13351	DVL3	Homo sapiens	Q92997	Validated Y2H	32296183
Intra	KLF1	Q13351	CREBBP	Homo sapiens	Q92793	ITC	21670263
Intra	KLF1	Q13351	PCBP1	Homo sapiens	Q15365	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

KLF1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84537	KLF1 Antibody (YA4234)	IHC-P, FC, ELISA	Human
HY-P84537A	KLF1 Antibody (YA4234)(PBS only)	IHC-P, FC, ELISA	Human

Related Diseases

Diseases	Alias
Anemia, Congenital Dyserythropoietic, Type Iv	CDAN4 Congenital Dyserythropoietic Anemia Type Iv Congenital Dyserythropoietic Anemia Type 4 Cda Iv Cda Due To Klf1 Mutation Cda Type 4 Cda Type Iv Congenital Dyserythropoietic Anemia Due To Klf1 Mutation Cda, Type Iv Dyserythropoietic Anemia, Congenital, Type Iv Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation Congenital Dyserythropoietic Anaemia Type 4 Congenital Dyserythropoietic Anaemia Type Iv Anemia, Congenital Dyserythropoietic, 4 Anemia, Dyserythropoietic Congenital, Type Iv Anemia, Dyserythropoietic, Congenital, Type Iv
Fetal Hemoglobin Quantitative Trait Locus 6	HBFQTL6 Hereditary Persistence Of Fetal Hemoglobin, Klf1-Related Hereditary Persistence Of Fetal Hemoglobin Hemoglobin, Fetal, Quantitative Trait Locus 6
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hpfh-Beta-Thalassemia Syndrome
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hpfh-Sickle Cell Disease Syndrome
Hemoglobinopathy	Hemoglobinopathies
Erythroleukemia
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Anemia, Congenital Dyserythropoietic, Type Ia	Congenital Dyserythropoietic Anemia Type I Cda I CDAN1A Congenital Dyserythropoietic Anemia Type 1 Congenital Dyserythropoietic Anemia Type Ia Congenital Dyserythropoietic Anemia, Type I Anemia, Congenital Dyserythropoietic, Type I Cda Type 1 Cda Type I Cda Ia Dyserythropoietic Anemia, Congenital Type 1 Anemia, Congenital Dyserythropoietic, Type 1a Dyserythropoietic Anemia, Congenital, Type Ia Cda, Type Ia Congenital Dyserythropoietic Anaemia Type 1 Congenital Dyserythropoietic Anaemia Type I Anemia, Dyserythropoietic, Congenital Type 1 Type I Congenital Dyserythropoietic Anemia Anemia, Congenital Dyserythropoietic, 1a Anemia, Dyserythropoietic, Congenital, Type Ia
Neonatal Anemia	Anemia Neonatal Anemia, Neonatal Anaemia Neonatal Neonatal Anaemia
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Thalassemia	Sickle-Cell Thalassemia With Crisis Sickle-Cell Thalassemia Without Crisis Thalassemia Hb-S Disease With Crisis Thalassemia Hb-S Disease Without Crisis Thalassemias Hereditary Leptocytosis Haemoglobin Thalassaemia Disorder Thalassaemia Syndrome Thalassaemia Nos Thalassemia Variants
Anemia, Congenital Dyserythropoietic, Type Ib	CDAN1B Congenital Dyserythropoietic Anemia Type Ib Cda, Type Ib Congenital Dyserythropoietic Anemia Type Type 1b Dyserythropoietic Anemia, Congenital, Type Ib Anemia, Congenital Dyserythropoietic, 1b Cda Ib Anemia, Dyserythropoietic, Congenital Anemia, Dyserythropoietic, Congenital, Type Ib
Anemia, Congenital Dyserythropoietic, Type Iiia	Congenital Dyserythropoietic Anemia, Type Iii Cdan3 Congenital Dyserythropoietic Anemia Type Iii Cda Iii Congenital Dyserythropoietic Anemia Type 3 CDAN3A Dyserythropoietic Anemia, Congenital, Type Iiia Cda, Type Iiia Anemia, Congenital Dyserythropoietic, Type Iii Anemia With Multinucleated Erythroblasts Cda Type 3 Cda Type Iii Dyserythropoietic Anemia, Congenital Type 3 Cda, Type Iii Erythroreticulosis, Hereditary Benign Anaemia With Multinucleated Erythroblasts Congenital Dyserythropoietic Anaemia Type 3 Congenital Dyserythropoietic Anaemia Type Iii Hereditary Benign Erythroreticulosis Anemia, Congenital Dyserythropoietic, 3a Anemia With Multinucleated Erythroblasts Erythroreticulosis, Hereditary Benign
Anemia, Sideroblastic, 1	Xlsa X-Linked Sideroblastic Anemia Hypochromic Anemia Anh1 Hereditary Iron-Loading Anemia Anemia, Sideroblastic, X-Linked Anemia, Hereditary Sideroblastic Erythroid 5-Aminolevulinate Synthase Deficiency Hereditary Sideroblastic Anemia SIDBA1 Anemia, Hypochromic Sideroblastic Anemia 1 Anemia Hypochromic X Chromosome-Linked Sideroblastic Anemia Sideroblastic Anaemia 1 X-Linked Sideroblastic Anaemia Anemia Hereditary Sideroblastic Anemia Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anemia Sideroblastic Anemia X-Linked Anemia, Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anaemia X-Linked Pyridoxine-Responsive Sideroblastic Anemia Anemia Congenital Sideroblastic Anemia, Sideroblastic, Type 1 Sex-Linked Hypochromic Sideroblastic Anaemia Autosomal Recessive Sideroblastic Anaemia Familial Sex Linked Hypochromic Anaemia
Beta-Thalassemia Intermedia
Acute Erythroid Leukemia	Acute Erythroleukemia Di Guglielmo'S Syndrome Aml M6 Acute Myeloid Leukemia Fab-M6 Acute Myeloid Leukemia M6 Erythroleukemia Aml-M6 Acute Erythroleukemia M6a Subtype Acute Erythroleukemia M6b Subtype Di Guglielmo Syndrome Acute Myeloid Leukemia, M6 Type Acute Erythroblastic Leukemia Acute Erythroleukemia - M6a Subtype Acute Erythroleukemia - M6b Subtype Acute Erythraemia And Erythroleukaemia Acute Erythroid Leukaemia Without Mention Of Remission Erythraemia Erythraemic Myelosis Erythroleukaemia Acute Erythraemic Myelosis Acute Erythraemia
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
Anemia, Congenital Dyserythropoietic, Type Ii	Congenital Dyserythropoietic Anemia Type Ii CDAN2 Cda Ii Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test Cda Type Ii Congenital Dyserythropoietic Anemia Type 2 Hereditary Erythroblastic Multinuclearity With A Positive Acidified-Serum Test Sec23b-Cdg Congenital Dyserythropoietic Anemia, Type Ii Dyserythropoietic Anemia, Hempas Type Hempas Cda Type 2 Dyserythropoietic Anemia, Congenital, Type Ii Cda, Type Ii Congenital Dyserythropoietic Anaemia Type 2 Congenital Dyserythropoietic Anaemia Type Ii Anemia, Dyserythropoietic, Congenital Type 2 Hempas Anemia Dyserythropoietic Anemia, Congenital Type 2 Anemia, Congenital Dyserythropoietic, 2 Dyserythropoietic Anemia Hempas Type Anemia, Dyserythropoietic Congenital, Type Ii Anemia, Dyserythropoietic, Congenital, Type Ii
Hemoglobin E Disease	Hemoglobin E Hb-E Disease
Fetal Hemoglobin Quantitative Trait Locus 1	Hereditary Persistence Of Fetal Hemoglobin Delta-Beta-Thalassemia Delta-Beta Thalassemia Delta Beta-Thalassemia HBFQTL1 Hemoglobin F, Hereditary Persistence Of Hpfh Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related Hemoglobin, Fetal, Quantitative Trait Locus 1 Hereditary Persistence Of Fetal Hemoglobin Thalassemia Hpfh - [Hereditary Persistence Of Fetal Haemoglobin] Fetal Haemoglobin Persistence Of Fetal Haemoglobin Persistent Haemoglobin F
Congenital Dyserythropoietic Anemia	Congenital Dyshaematopoietic Anaemia Dyserythropoietic Anemia, Congenital Cda Anemia, Dyserythropoietic, Congenital Anemia Dyserythropoietic Congenital Cda - [Congenital Dyserythropoietic Anaemia] Dyserythropoietic Dyshaematopoietic Congenital Anaemia Dyshaematopoietic Anaemia Dyserythropoietic Anaemia
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Congenital Nonspherocytic Hemolytic Anemia	Hereditary Non-Spherocytic Hemolytic Anemia Hereditary Nonspherocytic Hemolytic Anemia Anemia, Hemolytic, Congenital Nonspherocytic Congenital Nonspherocytic Hemolytic Anaemia Hereditary Nonspherocytic Hemolytic Anaemia Hnsha
Sickle Cell Anemia	Hemoglobin Sc Disease Anemia, Sickle Cell Hbsc Disease Sickle Cell-Hemoglobin C Disease Syndrome Hb Ss Disease Sickle Cell Trait Drepanocytosis Haemoglobin Sc Disease Hb Sc Disease Hb-S/Hb-C Disease Hb-Ss Disease Without Crisis Hemoglobin S Disease Without Crisis Sickle Cell Anaemia Sickle-Cell/Hb-C Disease Without Crisis Sickle Cell - Hemoglobin C Disease Hbs Disease Hemoglobin S Disease Sickling Disorder Due To Hemoglobin S SKCA Sickle Cell Disease Sickle Cell-Hemoglobin C Disease Sickle-Cell Disease Carrier Sickle-Cell Heterozygous Disorder Haemoglobin A-S Genotype Hb-S - [Sickle Cell Haemoglobin] Carrier Sickle Cell Haemoglobin Trait As - [Sickle Cell Trait] Hbas - [Sickle Cell Haemoglobin Trait] Sickle-Cell Trait Haemoglobin Disease Haemoglobin Sickle Cell Trait Disorder Heterozygous Sickle Cell Trait Hbas - [Heterozygous Haemoglobin S]
Autosomal Dominant Beta Thalassemia	Inclusion Body Beta-Thalassemia
Cutaneous Porphyria	Porphyria, Erythropoietic Erythropoietic Porphyria
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Hemoglobin C Disease	Hb C Disease Hemoglobin C Hb-C Disease
Hereditary Spherocytosis	Congenital Spherocytic Hemolytic Anemia Spherocytic Anemia Congenital Spherocytosis Spherocytosis, Type 1 Minkowski Chauffard Syndrome Hs Minkowski-Chauffard Disease Minkowski-Chauffard Syndrome Spherocytosis Hereditary Spherocytosis, Hereditary Anemia, Hereditary Spherocytic Hemolytic
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Dehydrated Hereditary Stomatocytosis Hereditary Xerocytosis Xerocytosis, Hereditary Pshk1 Pseudohyperkalemia Edinburgh Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema DHS1 Dhs Hereditary Desiccytosis Dehydrated Hereditary Stomatocytosis 1 Desiccytosis, Hereditary Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak Pseudohyperkalemia Familial 1, Due To Red Cell Leak Desiccytosis Hereditary Xerocytosis Hereditary Familial Pseudohyperkalemia 1 Due To Red Cell Leak Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema Xerocytosis
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07330	KLF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18769	Klf1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25257	Klf1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KLF1	VGNC	VGNC:74027
Bos taurus	KLF1	VGNC	VGNC:30626
Mus musculus	KLF1	MGD	MGI:1342771
Rattus norvegicus	KLF1	RGD	RGD:1309398
Felis catus	KLF1	VGNC	VGNC:67952
Canis familiaris	KLF1	VGNC	VGNC:42430
Others	KLF1	NCBI