KLF1 - KLF transcription factor 1 Gene

Homo sapiens

Also known as EKLF; EKLF/KLF1

Gene ID: 10661 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07330	KLF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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