KLF1 (KLF transcription factor 1)

Gene

• Entrez ID: 10661
• Gene name: KLF transcription factor 1
• Gene symbol: KLF1
• Synonyms: CDAN4A, CDAN4B, EKLF, EKLF/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

SNPs

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

miRNA

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

Transcription factors

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	21539536
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	20676099
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IDA	21539536
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:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of transcription, DNA-templated	IMP	25585695
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0030218	Process	Erythrocyte differentiation	IMP	21055716
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	15084587, 20676099, 21055716
GO:0046872	Function	Metal ion binding	IEA
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:1901653	Process	Cellular response to peptide	IEA

Other IDs

• MIM: 600599
• HGNC: 6345
• e!Ensembl: ENSG00000105610

Protein

• UniProt ID: 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

• Sequence:

  MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPG
  EEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGP
  GLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGG
  YFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLG
  PGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHL
  RTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKR
  HL

• Sequence length: 362

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Congenital dyserythropoietic anemia, type III, Anemia of inadequate production	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia, Congenital dyserythropoietic anemia, type I, Congenital dyserythropoietic anemia, type II, Congenital dyserythropoietic anemia type IV	rs121918221, rs121918222, rs121918224, rs121918225, rs121918226, rs80338697, rs80338699, rs120074166, rs120074167, rs120074168, rs120074169, rs80338694, rs80338696, rs398124225, rs398124226, rs199939108, rs727504145, rs1555788144, rs138334226, rs1403456625, rs1600244935, rs140334403, rs1600288964	21055716, 29200155, 29200155, 21055716, 25585695
Hemoglobinopathy	Hemoglobin F Disease	rs35693898, rs34160180, rs33916412, rs35424040, rs33933298, rs33966761, rs35890959, rs35002698, rs33969677, rs33974936, rs33922842, rs35662066, rs34856846, rs35383398, rs63750532, rs35532010, rs63751076, rs33944208, rs33925391, rs63751128, rs33924775, rs35485099, rs36008922, rs33927093, rs33950507, rs63750128, rs34704828, rs63750513, rs34563000, rs281864581, rs1564874901, rs33949869, rs35395625, rs35133315, rs33979901, rs1847589398	20676099
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986	28361594
Hyperbilirubinemia	Hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091

Unknown
Disease name	Disease term	dbSNP ID	References
Dwarfism	Dwarfism
Erythroid hyperplasia	Erythroid hyperplasia
Hematological disease	Hematological Disease		20676099
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome