Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	10661
Gene name	KLF transcription factor 1
Gene symbol	KLF1
Synonyms (NCBI Gene)	CDAN4ACDAN4BEKLFEKLF/KLF1
Chromosome	19
Chromosome location	19p13.13
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. Heterozyg

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852687	T>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs137852688	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs267607201	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607202	T>A	Pathogenic	Coding sequence variant, stop gained
rs387907598	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs387907599	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs397514445	->C	Pathogenic	Coding sequence variant, frameshift variant
rs397514634	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs398122931	G>A,T	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs483352838	->GCCGGGC	Benign, likely-pathogenic	Coding sequence variant, frameshift variant
rs483352839	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs483352840	C>G,T	Likely-pathogenic	Splice donor variant
rs483352841	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs769526751	C>A,G,T	Affects	Missense variant, coding sequence variant, stop gained
rs1297604452	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1426116895	G>A,T	Affects	Synonymous variant, coding sequence variant, stop gained
rs1568420836	G>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022111	hsa-miR-125b-5p	Other	20194440
MIRT1096058	hsa-miR-198	CLIP-seq
MIRT1096059	hsa-miR-3192	CLIP-seq
MIRT1096060	hsa-miR-370	CLIP-seq
MIRT1096061	hsa-miR-3918	CLIP-seq
MIRT1096062	hsa-miR-4300	CLIP-seq
MIRT1096063	hsa-miR-4314	CLIP-seq
MIRT1096064	hsa-miR-4529-5p	CLIP-seq
MIRT1096065	hsa-miR-4646-5p	CLIP-seq
MIRT1096066	hsa-miR-4685-5p	CLIP-seq
MIRT1096067	hsa-miR-626	CLIP-seq
MIRT1096068	hsa-miR-920	CLIP-seq
MIRT2025801	hsa-miR-1182	CLIP-seq
MIRT2025802	hsa-miR-1292	CLIP-seq
MIRT2025803	hsa-miR-3122	CLIP-seq
MIRT1096059	hsa-miR-3192	CLIP-seq
MIRT2025804	hsa-miR-326	CLIP-seq
MIRT2025805	hsa-miR-330-5p	CLIP-seq
MIRT2025806	hsa-miR-3913-5p	CLIP-seq
MIRT1096063	hsa-miR-4314	CLIP-seq
MIRT2025807	hsa-miR-4471	CLIP-seq
MIRT1096065	hsa-miR-4646-5p	CLIP-seq
MIRT2025808	hsa-miR-4747-5p	CLIP-seq
MIRT2025809	hsa-miR-593	CLIP-seq
MIRT2025810	hsa-miR-665	CLIP-seq
MIRT2025811	hsa-miR-671-5p	CLIP-seq
MIRT2025812	hsa-miR-9	CLIP-seq

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Transcription factor	Regulation	Reference
GATA1	Unknown	18487511;20564185
MYB	Activation	20686118

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	21539536
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	20676099
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	21539536
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8924208, 9778250
GO:0005515	Function	Protein binding	IPI	21670263, 32296183
GO:0005634	Component	Nucleus	IDA	21055716, 25585695
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	25585695
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEP	24139988
GO:0008270	Function	Zinc ion binding	IEA
GO:0030218	Process	Erythrocyte differentiation	IMP	21055716
GO:0031648	Process	Protein destabilization	IEP	24139988
GO:0043130	Function	Ubiquitin binding	EXP	24139988
GO:0043130	Function	Ubiquitin binding	IMP	24139988
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	15084587, 20676099, 21055716
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:1990859	Process	Cellular response to endothelin	IEA

MIM	HGNC	e!Ensembl
600599	6345	ENSG00000105610

Q13351

Protein name

Krueppel-like factor 1 (Erythroid krueppel-like transcription factor) (EKLF)

Protein function

Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as

PDB

2L2I , 2MBH , 2N23

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16832	EKLF_TAD1	22 → 48	Erythroid krueppel-like transcription factor, transactivation 1	Domain
PF16833	EKLF_TAD2	59 → 85	Erythroid krueppel-like transcription factor, transactivation 2	Domain
PF00096	zf-C2H2	279 → 303	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	309 → 333	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	339 → 361	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Expression restricted to adult bone marrow and fetal liver. Not expressed in myeloid nor lymphoid cell lines. {ECO:0000269|PubMed:8924208, ECO:0000269|PubMed:9119377}.

Sequence

MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPG
EEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGP
GLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGG
YFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLG
PGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHL
RTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKR
HL

Sequence length

362

Interactions

View interactions

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anemia, congenital dyserythropoietic, type IVb	Pathogenic	rs397514445, rs387907598	RCV004758592 RCV004777567
BLOOD GROUP--LUTHERAN INHIBITOR	Pathogenic	rs397514445, rs1568420836, rs137852687, rs137852688, rs267607201, rs398122931, rs1297604452, rs387907598, rs387907599	RCV000009562 RCV000009563 RCV000009564 RCV000009565 RCV000990153 RCV000033156 RCV000033157 RCV000050236 RCV000050237
Congenital dyserythropoietic anemia type 4	Likely pathogenic; Pathogenic	rs483352840, rs267607201, rs387907598, rs387907599	RCV003448264 RCV000009567 RCV000050236 RCV000050237
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6	Pathogenic	rs397514445, rs387907598, rs387907599	RCV004732459 RCV000050236 RCV000050237
KLF1-related disorder	Pathogenic	rs397514445, rs267607201	RCV004742223 RCV005887578

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	rs558942739	RCV005912174

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
46 XX Testicular Disorders of Sex Development	Associate	29300242
Anemia	Associate	21778342, 25585695, 33686258
Anemia Diamond Blackfan	Associate	29601850, 29700354
Anemia Dyserythropoietic Congenital	Associate	21055716, 25724378, 29300242, 30872368, 30876823, 37084386
Anemia Hemolytic	Associate	24443441
Anemia Hemolytic Congenital Nonspherocytic	Associate	24443441, 25724378
Anemia hypochromic microcytic	Associate	25585695
Anemia Neonatal	Associate	25724378
Anemia Sickle Cell	Associate	22102705, 31134759
beta Thalassemia	Associate	15352994, 24829204, 25082863, 29601850, 31115947, 36939018, 39445566, 8288615
Bursitis	Associate	34304709
Cataract	Stimulate	34304709
Corneal dystrophy Avellino type	Associate	21055716
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	34535703, 35013432
Dykes Markes Harper syndrome	Associate	25724378
Dyserythropoiesis Congenital with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin	Associate	25585695, 30876823
Dysplastic Nevus Syndrome	Associate	29700354
Erythroblastosis Fetal	Associate	25724378
Fetal Diseases	Associate	21273267, 29300242, 34535703
Glycogen Storage Disease XII	Associate	29700354, 30529538
Hemoglobin C Disease	Associate	24443441, 36939018
Hemoglobinopathies	Associate	21220744, 25082863, 26840243, 30529538
Hydrops Fetalis	Associate	25724378, 29300242, 31134759
Infant Newborn Diseases	Associate	25724378
Jaundice	Associate	25724378
Kernicterus	Associate	25724378
Leukemia	Associate	29700354, 30850577
Leukemia Erythroblastic Acute	Associate	10535918
Leukemia Myeloid Acute	Associate	12417757, 19097174
Leukemia Myelomonocytic Juvenile	Associate	28749240
Neoplasm Metastasis	Associate	30132534
Neoplasms	Associate	29700354, 34304709
Neuhauser syndrome	Associate	36857629
Ovalocytosis Hereditary Hemolytic with Defective Erythropoiesis	Associate	21055716
Stomach Neoplasms	Stimulate	34669363
Thalassemia	Associate	15352994, 21821711, 24829204
Urinary Bladder Neoplasms	Associate	39376007
Uterine Cervical Neoplasms	Associate	30132534, 34669363

KLF1 (KLF transcription factor 1)