KLF1 (Kruppel like factor 1)

2016-10-01  

Identity

HGNC
KLF1
LOCATION
19p13.13
LOCUSID
10661
ALIAS
EKLF,EKLF/KLF1

Other Information

Locus ID:

NCBI: 10661
MIM: 600599
HGNC: 6345
Ensembl: ENSG00000105610

Variants:

dbSNP: 10661
ClinVar: 10661
TCGA: ENSG00000105610
COSMIC: KLF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105610ENST00000264834Q13351

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
206760972010KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching.129
206760992010Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.127
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
210557162010A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.60
232091592013The switch from fetal to adult hemoglobin.58
206861182010c-myb supports erythropoiesis through the transactivation of KLF1 and LMO2 expression.46
184875112008Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype.44
185231542008EKLF restricts megakaryocytic differentiation at the benefit of erythrocytic differentiation.42
211902912010KLF1 directly coordinates almost all aspects of terminal erythroid differentiation.36
211573492011Update on fetal hemoglobin gene regulation in hemoglobinopathies.35

Citation

Dessen P

KLF1 (Kruppel like factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56559/klf1