1. Gene
  2. KLF1 - KLF transcription factor 1 Gene

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

KLF1 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (295 - 317)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (326 - 350)

  • 0
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  • 300
  • 362 a.a.
Protein Preferred Names Protein Names

Krueppel-like factor 1

Kruppel like factor 1

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

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