KLF1 (Kruppel like factor 1) - Rat Genome Database

Name: KLF1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: KLF1 (Kruppel like factor 1) Homo sapiens

Analyze

Symbol:

KLF1

Name:

Kruppel like factor 1

RGD ID:

1319723

HGNC Page

HGNC

Description:

Exhibits cis-regulatory region sequence-specific DNA binding activity. Involved in erythrocyte differentiation and positive regulation of transcription, DNA-templated. Localizes to nuclear chromatin and nucleoplasm. Implicated in congenital dyserythropoietic anemia type IV. Biomarker of Diamond-Blackfan anemia; acute myeloid leukemia; and chromosome 5q deletion syndrome.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

CDAN4; EKLF; EKLF/KLF1; erythroid krueppel-like transcription factor; erythroid Kruppel-like factor; erythroid-specific transcription factor EKLF; HBFQTL6; INLU; Krueppel-like factor 1; Kruppel-like factor 1 (erythroid); monoclonal antibody A3D8; truncated EKLF; truncated erythroid Kruppel-like factor 1; truncated erythroid Kruppel-like factor EKLF/KLF1; truncated Kruppel-like factor 1

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Klf1 (Kruppel-like factor 1 (erythroid))	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Rattus norvegicus (Norway rat):	Klf1 (Kruppel like factor 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Klf1 (Kruppel like factor 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	KLF1 (Kruppel like factor 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	KLF1 (Kruppel like factor 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Klf1 (Kruppel like factor 1)	NCBI	Ortholog
Sus scrofa (pig):	KLF1 (Kruppel like factor 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (African green monkey):	KLF1 (Kruppel like factor 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Klf1 (Kruppel like factor 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Klf1 (Kruppel like factor 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|TreeFam)
Mus musculus (house mouse):	Klf1 (Kruppel-like factor 1 (erythroid))	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	klf1 (Kruppel-like factor 1 (erythroid))	Alliance	DIOPT (OrthoFinder\|TreeFam\|ZFIN)
Caenorhabditis elegans (roundworm):	klf-3	Alliance	DIOPT (PANTHER\|Roundup\|TreeFam)
Drosophila melanogaster (fruit fly):	hkb	Alliance	DIOPT (Ensembl Compara\|InParanoid)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	19	12,884,422 - 12,887,201 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	19	12,884,422 - 12,887,199 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	19	12,884,422 - 12,887,201 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	19	12,995,236 - 12,998,017 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	12,856,236 - 12,859,017 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	19	12,856,238 - 12,859,017	NCBI
Celera	19	12,884,944 - 12,887,725 (-)	NCBI
Cytogenetic Map	19	p13.13	NCBI
HuRef	19	12,567,102 - 12,569,883 (-)	NCBI		HuRef
CHM1_1	19	12,995,734 - 12,998,515 (-)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

acute myeloid leukemia (IEP)

atrial heart septal defect (IAGP)

beta thalassemia (ISS)

chromosome 5q deletion syndrome (IEP)

congenital dyserythropoietic anemia (EXP)

congenital dyserythropoietic anemia type IV (IAGP)

congenital ptosis (IAGP)

Diamond-Blackfan anemia (IEP)

hematopoietic system disease (EXP)

hereditary spherocytosis (ISO,ISS)

hypertrophic cardiomyopathy (IAGP)

Muscle Hypotonia (IAGP)

polyhydramnios (IAGP)

pulmonary valve stenosis (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

3,3',4,4'-tetrachlorobiphenyl (ISO)

3,4-methylenedioxymethamphetamine (ISO)

acrylamide (ISO)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

cadmium dichloride (ISO)

capsaicin (ISO)

cyclosporin A (ISO)

endosulfan (ISO)

hydrogen peroxide (EXP)

lipopolysaccharide (ISO)

MeIQx (EXP)

N-nitrosodiethylamine (ISO)

oxaliplatin (ISO)

paracetamol (ISO)

phenobarbital (ISO)

pirinixic acid (ISO)

pomalidomide (EXP)

tetrachloromethane (ISO)

topotecan (ISO)

Tributyltin oxide (ISO)

triclosan (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to peptide (IEA)

chromatin remodeling (ISO)

embryonic hemopoiesis (ISO)

erythrocyte development (ISO)

erythrocyte differentiation (IMP)

erythrocyte maturation (ISO)

in utero embryonic development (ISO)

liver development (ISO)

maternal process involved in female pregnancy (IEA)

positive regulation of gene expression (ISO)

positive regulation of transcription by RNA polymerase II (ISO)

positive regulation of transcription, DNA-templated (IDA)

regulation of transcription by RNA polymerase II (IBA)

regulation of transcription, DNA-templated (IMP)

Cellular Component

chromatin (IBA,IDA,ISA)

nucleoplasm (IDA)

nucleus (IDA)

Molecular Function

activating transcription factor binding (ISO)

cis-regulatory region sequence-specific DNA binding (IDA)

DNA binding (ISO)

DNA-binding transcription activator activity, RNA polymerase II-specific (ISO)

DNA-binding transcription factor activity (TAS)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,ISA)

metal ion binding (IEA)

protein binding (IPI)

protein domain specific binding (ISO)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA)

transcription regulatory region sequence-specific DNA binding (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal bone structure (IAGP)

Absence of Lutheran antigen on erythrocytes (IAGP)

Anemia (IAGP)

Anemia of inadequate production (IAGP)

Autosomal dominant inheritance (IAGP)

Congenital onset (IAGP)

Erythroid hyperplasia (IAGP)

Hepatomegaly (IAGP)

Hydrops fetalis (IAGP)

Hyperbilirubinemia (IAGP)

Hypertrophic cardiomyopathy (IAGP)

Pallor (IAGP)

Persistence of hemoglobin F (IAGP)

Reticulocytosis (IAGP)

Short stature (IAGP)

Splenomegaly (IAGP)

References

References - curated


1.	Ayala RM, etal., Am J Hematol. 2009 Feb;84(2):79-86. doi: 10.1002/ajh.21332.
2.	GOA_HUMAN data from the GO Consortium
3.	Heruth DP, etal., Genomics. 2010 Nov;96(5):303-7. doi: 10.1016/j.ygeno.2010.07.009. Epub 2010 Aug 5.
4.	Neuwirtova R, etal., Ann Hematol. 2013 Jan;92(1):11-8. doi: 10.1007/s00277-012-1568-1. Epub 2012 Sep 11.
5.	OMIM Disease Annotation Pipeline
6.	Qian Z, etal., Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14925-30. Epub 2002 Nov 4.
7.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8.	RGD automated import pipeline for gene-chemical interactions
9.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:7753194	PMID:8924208	PMID:9119377	PMID:9722526	PMID:9778250	PMID:11018012	PMID:11259590	PMID:11287616	PMID:11844803	PMID:12072445	PMID:12477932	PMID:12556498
PMID:14976188	PMID:15057824	PMID:15084587	PMID:15542849	PMID:15937668	PMID:16184297	PMID:16858401	PMID:18195733	PMID:18329016	PMID:18487511	PMID:18523154	PMID:19220418
PMID:19251649	PMID:19274049	PMID:19850899	PMID:20379614	PMID:20642331	PMID:20676097	PMID:20676099	PMID:20686118	PMID:21055716	PMID:21157349	PMID:21190291	PMID:21273267
PMID:21539536	PMID:21610079	PMID:21670263	PMID:21778342	PMID:21821711	PMID:21873635	PMID:22093801	PMID:22102705	PMID:22393050	PMID:23125034	PMID:23161389	PMID:23209159
PMID:23223429	PMID:23474875	PMID:23806141	PMID:24139988	PMID:24443441	PMID:24594363	PMID:24711040	PMID:24829204	PMID:24857170	PMID:24916507	PMID:25187353	PMID:25457384
PMID:25528728	PMID:25583416	PMID:25585695	PMID:25690802	PMID:25694242	PMID:25724378	PMID:25976964	PMID:26053062	PMID:26159733	PMID:26303528	PMID:26840243	PMID:26903544
PMID:27026582	PMID:27043150	PMID:27282573	PMID:27447460	PMID:27668420	PMID:27701781	PMID:27708211	PMID:27821015	PMID:28026072	PMID:28194794	PMID:28342932	PMID:28369821
PMID:28659276	PMID:28749240	PMID:28886314	PMID:29047116	PMID:29067594	PMID:29193102	PMID:29200155	PMID:29393578	PMID:29420372	PMID:29475801	PMID:29601850	PMID:29700354
PMID:30132534	PMID:30205725	PMID:30465532	PMID:30529538	PMID:30747024	PMID:30876823	PMID:31023581	PMID:31111750	PMID:31115947	PMID:31818881	PMID:32296183

Genomics

Comparative Map Data

KLF1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	19	12,884,422 - 12,887,201 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	19	12,884,422 - 12,887,199 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	19	12,884,422 - 12,887,201 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	19	12,995,236 - 12,998,017 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	12,856,236 - 12,859,017 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	19	12,856,238 - 12,859,017	NCBI
Celera	19	12,884,944 - 12,887,725 (-)	NCBI
Cytogenetic Map	19	p13.13	NCBI
HuRef	19	12,567,102 - 12,569,883 (-)	NCBI		HuRef
CHM1_1	19	12,995,734 - 12,998,515 (-)	NCBI		CHM1_1

Klf1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	85,628,611 - 85,631,920 (+)	NCBI	GRCm39		mm39
GRCm38	8	84,901,982 - 84,905,291 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	84,901,928 - 84,905,295 (+)	Ensembl	GRCm38		mm10	GRCm38
GRCm38.p6 Ensembl	8	84,901,928 - 84,905,291 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	87,425,827 - 87,429,194 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	8	87,792,033 - 87,795,396 (+)	NCBI			mm8
Celera	8	89,201,315 - 89,204,684 (+)	NCBI		Celera
Cytogenetic Map	8	C3	NCBI
cM Map	8	41.3	NCBI

Klf1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rnor_6.0	19	26,016,289 - 26,019,557 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	26,016,382 - 26,019,553 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	36,991,935 - 36,995,180 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	24,906,887 - 24,910,058 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	19	24,912,048 - 24,914,837 (-)	NCBI
Celera	19	22,807,529 - 22,810,700 (-)	NCBI		Celera
Cytogenetic Map	19	q11	NCBI

Klf1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955415	31,939,873 - 31,943,545 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955415	31,939,994 - 31,943,539 (-)	NCBI	ChiLan1.0	ChiLan1.0

KLF1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	19	13,188,652 - 13,191,425 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	13,188,652 - 13,191,425 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	19	12,446,130 - 12,449,238 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

KLF1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	20	49,295,195 - 49,298,602 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	20	49,295,097 - 49,298,668 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Klf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936659	1,946,614 - 1,950,003 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

KLF1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	66,144,777 - 66,148,517 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	66,144,767 - 66,148,500 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	66,451,872 - 66,455,605 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

KLF1
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1 Ensembl	6	11,564,235 - 11,566,495 (-)	Ensembl
ChlSab1.1	6	11,563,773 - 11,566,615 (-)	NCBI

Klf1
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624901	467,937 - 471,917 (-)	NCBI

Position Markers

STS-H60702

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	12,995,261 - 12,995,496	UniSTS	GRCh37
Build 36	19	12,856,261 - 12,856,496	RGD	NCBI36
Celera	19	12,884,969 - 12,885,204	RGD
Cytogenetic Map	19	p13.2	UniSTS
HuRef	19	12,567,127 - 12,567,362	UniSTS
GeneMap99-GB4 RH Map	19	73.9	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	249
Count of miRNA genes:	224
Interacting mature miRNAs:	232
Transcripts:	ENST00000264834
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

High

Medium

603

642

Low

212

535

332

154

174

187

378

149

Below cutoff

1598

1477

1236

388

508

263

2930

1437

3167

185

961

1033

136

873

1972

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_013087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006563	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC020934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AD000092	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC040000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471106	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ200443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ200444	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ200445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ200446	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ200447	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ200448	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ200449	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ200450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ356267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ356268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JX877554	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF542814	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF542815	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT322131	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT322132	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT322133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT322134	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT322135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT322136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU214878	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY652761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY926706	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY926707	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104981	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104984	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104985	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104986	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104990	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104991	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104992	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104993	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104994	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104996	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104997	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC104998	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC106019	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC106020	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC106021	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC106022	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC106023	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC106024	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC106025	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC106026	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC153351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC339918	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC339919	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC339920	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC339921	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC339922	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC339923	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LT796704	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MF668938	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MF668939	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MG990940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MH716182	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U37106	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U65404	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000264834 ⟹ ENSP00000264834

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	19	12,884,422 - 12,887,201 (-)	Ensembl

RefSeq Acc Id:

NM_006563 ⟹ NP_006554

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	12,884,422 - 12,887,201 (-)	NCBI
GRCh37	19	12,995,236 - 12,998,017 (-)	ENTREZGENE
Build 36	19	12,856,236 - 12,859,017 (-)	NCBI Archive
HuRef	19	12,567,102 - 12,569,883 (-)	ENTREZGENE
CHM1_1	19	12,995,734 - 12,998,515 (-)	NCBI

Sequence:

show sequence

TCAGAGTTCACGAGGCAGCCGAGGAAGAGGAGGCTTGAGGCCCAGGGTGGGCACCAGCCAGCCA
TGGCCACAGCCGAGACCGCCTTGCCCTCCATCAGCACACTGACCGCCCTGGGCCCCTTCCCGGA
CACACAGGATGACTTCCTCAAGTGGTGGCGCTCCGAAGAGGCGCAGGACATGGGCCCGGGTCCT
CCTGACCCCACGGAGCCGCCCCTCCACGTGAAGTCTGAGGACCAGCCCGGGGAGGAAGAGGACG
ATGAGAGGGGCGCGGACGCCACCTGGGACCTGGATCTCCTCCTCACCAACTTCTCGGGCCCGGA
GCCCGGTGGCGCGCCCCAGACCTGCGCTCTGGCGCCCAGCGAGGCCTCCGGGGCGCAATATCCG
CCGCCGCCCGAGACTCTGGGCGCATATGCTGGCGGCCCGGGGCTGGTGGCTGGGCTTTTGGGTT
CGGAGGATCACTCGGGTTGGGTGCGCCCTGCCCTGCGAGCCCGGGCTCCCGACGCCTTCGTGGG
CCCAGCCCTGGCTCCAGCCCCGGCCCCCGAGCCCAAGGCGCTGGCGCTGCAACCGGTGTACCCG
GGGCCCGGCGCCGGCTCCTCGGGTGGCTACTTCCCGCGGACCGGGCTTTCAGTGCCTGCGGCGT
CGGGCGCCCCCTACGGGCTACTGTCCGGGTACCCCGCGATGTACCCGGCGCCTCAGTACCAAGG
GCACTTCCAGCTCTTCCGCGGGCTCCAGGGACCCGCGCCCGGTCCCGCCACGTCCCCCTCCTTC
CTGAGTTGTTTGGGACCCGGGACGGTGGGCACTGGACTCGGGGGGACTGCAGAGGATCCAGGTG
TGATAGCCGAGACCGCGCCATCCAAGCGAGGCCGACGTTCGTGGGCGCGCAAGAGGCAGGCAGC
GCACACGTGCGCGCACCCGGGTTGCGGCAAGAGCTACACCAAGAGCTCCCACCTGAAGGCGCAT
CTGCGCACGCACACAGGGGAGAAGCCATACGCCTGCACGTGGGAAGGCTGCGGCTGGAGATTCG
CGCGCTCGGACGAGCTGACCCGCCACTACCGGAAACACACGGGGCAGCGCCCCTTCCGCTGCCA
GCTCTGCCCACGTGCTTTTTCGCGCTCTGACCACCTGGCCTTGCACATGAAGCGCCACCTTTGA
GCCCTGCCCTGGCACTTGGACTCTCCTAGTGACTGGGGATGGGACAAGAAGCCTGTTTGGTGGT
CTCTTCACACGGACGCGCGTGACACAATGCTGGGTGGTTTTCCCACGAATGGACCCTCTCCTGG
ACTCGCGTTCCCAAAGATCCACCCAAATATCAAACACGGACCCATAGACAGCCCTGGGGGAGCC
TCTTACGGAAAATCCGACAAGCCTTCAGCCACAGGGAGCCACACAGAGATGTCCAAACTGTCGT
GCAAACCCAGTGAGACAGACCGCCAAATAAACGGACTCAGTGGACACTCAGACCAGCTCCCAGA
TGGCCCTGGACAGCAGGAGAGGGTGTGGGATGAGGCTTCCCAGAGACCCTGGGTCTAGAAAGCG
GCTCCTGAAGGTCCCTTATTGTGGCTGATATTAACTGTCAATGGTTATGGGTCCTATAAAAATG
CCCCTCCCAGATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_006554	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB51173	(Get FASTA)	NCBI Sequence Viewer
	AAC50562	(Get FASTA)	NCBI Sequence Viewer
	AAC51108	(Get FASTA)	NCBI Sequence Viewer
	AAH33580	(Get FASTA)	NCBI Sequence Viewer
	ACJ26762	(Get FASTA)	NCBI Sequence Viewer
	ACJ26763	(Get FASTA)	NCBI Sequence Viewer
	ACM18112	(Get FASTA)	NCBI Sequence Viewer
	ACM18113	(Get FASTA)	NCBI Sequence Viewer
	ACM18114	(Get FASTA)	NCBI Sequence Viewer
	ACM18115	(Get FASTA)	NCBI Sequence Viewer
	ACM18116	(Get FASTA)	NCBI Sequence Viewer
	AFW90650	(Get FASTA)	NCBI Sequence Viewer
	AHA61453	(Get FASTA)	NCBI Sequence Viewer
	AHA61454	(Get FASTA)	NCBI Sequence Viewer
	ALX18089	(Get FASTA)	NCBI Sequence Viewer
	ALX18090	(Get FASTA)	NCBI Sequence Viewer
	ALX18091	(Get FASTA)	NCBI Sequence Viewer
	ALX18092	(Get FASTA)	NCBI Sequence Viewer
	ALX18093	(Get FASTA)	NCBI Sequence Viewer
	ALX18094	(Get FASTA)	NCBI Sequence Viewer
	ANC85230	(Get FASTA)	NCBI Sequence Viewer
	AQY61598	(Get FASTA)	NCBI Sequence Viewer
	ASU50672	(Get FASTA)	NCBI Sequence Viewer
	AXZ96478	(Get FASTA)	NCBI Sequence Viewer
	AYW35874	(Get FASTA)	NCBI Sequence Viewer
	EAW84323	(Get FASTA)	NCBI Sequence Viewer
	Q13351	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_006554 ⟸ NM_006563

- UniProtKB:

Q13351 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEED
DERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLG
SEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAA
SGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPG
VIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRF
ARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL

hide sequence

RefSeq Acc Id:

ENSP00000264834 ⟸ ENST00000264834

Protein Domains

C2H2-type EKLF_TAD1 EKLF_TAD2

Promoters

RGD ID:

6811631

Promoter ID:

HG_ACW:40061

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, K562

Transcripts:

KLF1.BAPR07-UNSPLICED

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	12,857,649 - 12,858,149 (-)	MPROMDB

RGD ID:

6795719

Promoter ID:

HG_KWN:29037

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

ENST00000264834

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	12,858,671 - 12,859,171 (-)	MPROMDB

RGD ID:

7238743

Promoter ID:

EPDNEW_H25117

Type:

multiple initiation site

Name:

KLF1_1

Description:

Kruppel like factor 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H25118

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	12,887,201 - 12,887,261	EPDNEW

RGD ID:

7238745

Promoter ID:

EPDNEW_H25118

Type:

multiple initiation site

Name:

KLF1_2

Description:

Kruppel like factor 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H25117

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	12,890,827 - 12,890,887	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_006563.5(KLF1):c.591C>G (p.Tyr197Ter)	single nucleotide variant	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000033157]	Chr19:12885639 [GRCh38] Chr19:12996453 [GRCh37] Chr19:19p13.13	pathogenic
NM_006563.5(KLF1):c.569del (p.Pro190fs)	deletion	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000009563]	Chr19:12885661 [GRCh38] Chr19:12996475 [GRCh37] Chr19:19p13.13	pathogenic
NM_006563.4(KLF1):c.954dup (p.Arg319fs)	duplication	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000009562]	Chr19:12885019..12885020 [GRCh38] Chr19:12995833..12995834 [GRCh37] Chr19:19p13.13	pathogenic
NM_006563.4(KLF1):c.874A>T (p.Lys292Ter)	single nucleotide variant	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000009564]	Chr19:12885356 [GRCh38] Chr19:12996170 [GRCh37] Chr19:19p13.13	pathogenic
NM_006563.4(KLF1):c.895C>T (p.His299Tyr)	single nucleotide variant	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000009565]	Chr19:12885335 [GRCh38] Chr19:12996149 [GRCh37] Chr19:19p13.13	pathogenic
NM_006563.4(KLF1):c.862A>T (p.Lys288Ter)	single nucleotide variant	HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED [RCV000009566]	Chr19:12885368 [GRCh38] Chr19:12996182 [GRCh37] Chr19:19p13.13	pathogenic
NM_006563.4(KLF1):c.973G>A (p.Glu325Lys)	single nucleotide variant	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000990153]\|Congenital dyserythropoietic anemia, type IV [RCV000009567]	Chr19:12885001 [GRCh38] Chr19:12995815 [GRCh37] Chr19:19p13.13	pathogenic
NM_006563.4(KLF1):c.892G>C (p.Ala298Pro)	single nucleotide variant	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000050236]	Chr19:12885338 [GRCh38] Chr19:12996152 [GRCh37] Chr19:19p13.13	pathogenic
NM_006563.4(KLF1):c.1012C>T (p.Pro338Ser)	single nucleotide variant	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000050237]	Chr19:12884962 [GRCh38] Chr19:12995776 [GRCh37] Chr19:19p13.13	pathogenic
NM_006563.4(KLF1):c.977T>G (p.Leu326Arg)	single nucleotide variant	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000033155]	Chr19:12884997 [GRCh38] Chr19:12995811 [GRCh37] Chr19:19p13.13	pathogenic
NM_006563.4(KLF1):c.1071C>A (p.His357Gln)	single nucleotide variant	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000033156]	Chr19:12884903 [GRCh38] Chr19:12995717 [GRCh37] Chr19:19p13.13	pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	copy number gain	See cases [RCV000052908]	Chr19:8831147..13331227 [GRCh38] Chr19:8941823..13442041 [GRCh37] Chr19:8802823..13303041 [NCBI36] Chr19:19p13.2-13.13	likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	copy number gain	See cases [RCV000052909]	Chr19:10315258..14048994 [GRCh38] Chr19:10425934..14159806 [GRCh37] Chr19:10286934..14020806 [NCBI36] Chr19:19p13.2-13.12	pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	copy number gain	See cases [RCV000052910]	Chr19:12132052..14751798 [GRCh38] Chr19:12242867..14862610 [GRCh37] Chr19:12103867..14723610 [NCBI36] Chr19:19p13.2-13.12	pathogenic
GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	copy number gain	See cases [RCV000052911]	Chr19:12850595..13290954 [GRCh38] Chr19:12961409..13401768 [GRCh37] Chr19:12822409..13262768 [NCBI36] Chr19:19p13.13	pathogenic
GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	copy number gain	See cases [RCV000054144]	Chr19:12813597..13119698 [GRCh38] Chr19:12924411..13230512 [GRCh37] Chr19:12785411..13091512 [NCBI36] Chr19:19p13.13	uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]\|See cases [RCV000053944]	Chr19:11227942..14532135 [GRCh38] Chr19:11338618..14642947 [GRCh37] Chr19:11199618..14503947 [NCBI36] Chr19:19p13.2-13.12	pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	copy number loss	See cases [RCV000053945]	Chr19:11517825..13225287 [GRCh38] Chr19:11628640..13336101 [GRCh37] Chr19:11489640..13197101 [NCBI36] Chr19:19p13.2-13.13	pathogenic
NM_006563.4(KLF1):c.1001C>G (p.Thr334Arg)	single nucleotide variant	not provided [RCV000087154]	Chr19:12884973 [GRCh38] Chr19:12995787 [GRCh37] Chr19:19p13.13	likely pathogenic
NM_006563.4(KLF1):c.1022G>A (p.Cys341Tyr)	single nucleotide variant	not provided [RCV000087155]	Chr19:12884952 [GRCh38] Chr19:12995766 [GRCh37] Chr19:19p13.13	likely pathogenic
NM_006563.4(KLF1):c.13G>A (p.Glu5Lys)	single nucleotide variant	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000990156]\|not provided [RCV000087156]	Chr19:12887128 [GRCh38] Chr19:12997942 [GRCh37] Chr19:19p13.13	benign\|not provided
NM_006563.4(KLF1):c.519_525dup (p.Gly176fs)	duplication	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000990155]\|not provided [RCV000087157]	Chr19:12885704..12885705 [GRCh38] Chr19:12996518..12996519 [GRCh37] Chr19:19p13.13	likely pathogenic\|benign
NM_006563.4(KLF1):c.895C>G (p.His299Asp)	single nucleotide variant	not provided [RCV000087158]	Chr19:12885335 [GRCh38] Chr19:12996149 [GRCh37] Chr19:19p13.13	likely pathogenic
NM_006563.4(KLF1):c.913+1G>A	single nucleotide variant	not provided [RCV000087159]	Chr19:12885316 [GRCh38] Chr19:12996130 [GRCh37] Chr19:19p13.13	likely pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	copy number loss	See cases [RCV000135937]	Chr19:12580427..14742673 [GRCh38] Chr19:12691241..14853485 [GRCh37] Chr19:12552241..14714485 [NCBI36] Chr19:19p13.2-13.12	pathogenic\|likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	copy number loss	See cases [RCV000136909]	Chr19:11525163..14155021 [GRCh38] Chr19:11635978..14265833 [GRCh37] Chr19:11496978..14126833 [NCBI36] Chr19:19p13.2-13.12	pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	copy number loss	See cases [RCV000141568]	Chr19:10319474..13777860 [GRCh38] Chr19:10430150..13888674 [GRCh37] Chr19:10291150..13749674 [NCBI36] Chr19:19p13.2-13.13	pathogenic
NM_006563.4(KLF1):c.954G>C (p.Trp318Cys)	single nucleotide variant	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000240027]	Chr19:12885020 [GRCh38] Chr19:12995834 [GRCh37] Chr19:19p13.13	affects
NM_006563.5(KLF1):c.304T>C (p.Ser102Pro)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000350669]\|not specified [RCV000251710]	Chr19:12885926 [GRCh38] Chr19:12996740 [GRCh37] Chr19:19p13.13	benign
NM_006563.4(KLF1):c.478G>A (p.Glu160Lys)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000290356]	Chr19:12885752 [GRCh38] Chr19:12996566 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.4(KLF1):c.544T>C (p.Phe182Leu)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000320797]	Chr19:12885686 [GRCh38] Chr19:12996500 [GRCh37] Chr19:19p13.13	benign
NM_006563.4(KLF1):c.286C>T (p.Leu96=)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000391619]	Chr19:12885944 [GRCh38] Chr19:12996758 [GRCh37] Chr19:19p13.13	benign\|likely benign
NM_006563.4(KLF1):c.115A>C (p.Met39Leu)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000391626]	Chr19:12886115 [GRCh38] Chr19:12996929 [GRCh37] Chr19:19p13.13	benign\|likely benign
NM_006563.4(KLF1):c.*311A>G	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000343838]	Chr19:12884574 [GRCh38] Chr19:12995388 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.4(KLF1):c.*454C>G	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000392357]	Chr19:12884431 [GRCh38] Chr19:12995245 [GRCh37] Chr19:19p13.13	benign\|likely benign
NM_006563.4(KLF1):c.*296G>A	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000392363]	Chr19:12884589 [GRCh38] Chr19:12995403 [GRCh37] Chr19:19p13.13	benign
NM_006563.4(KLF1):c.259C>G (p.Pro87Ala)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000311019]	Chr19:12885971 [GRCh38] Chr19:12996785 [GRCh37] Chr19:19p13.13	likely benign
NM_006563.4(KLF1):c.*291A>G	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000312901]	Chr19:12884594 [GRCh38] Chr19:12995408 [GRCh37] Chr19:19p13.13	benign\|likely benign
NM_006563.4(KLF1):c.*277C>T	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000367515]	Chr19:12884608 [GRCh38] Chr19:12995422 [GRCh37] Chr19:19p13.13	benign
NM_006563.4(KLF1):c.690C>T (p.Ala230=)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000324445]	Chr19:12885540 [GRCh38] Chr19:12996354 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.4(KLF1):c.629C>G (p.Pro210Arg)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000378844]	Chr19:12885601 [GRCh38] Chr19:12996415 [GRCh37] Chr19:19p13.13	benign\|likely benign
NM_006563.4(KLF1):c.325C>T (p.Pro109Ser)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000381166]\|not provided [RCV000960983]	Chr19:12885905 [GRCh38] Chr19:12996719 [GRCh37] Chr19:19p13.13	benign
NM_006563.4(KLF1):c.520G>T (p.Gly174Cys)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000384698]	Chr19:12885710 [GRCh38] Chr19:12996524 [GRCh37] Chr19:19p13.13	benign\|likely benign
NM_006563.4(KLF1):c.*185G>A	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000354738]	Chr19:12884700 [GRCh38] Chr19:12995514 [GRCh37] Chr19:19p13.13	benign\|likely benign
NM_006563.4(KLF1):c.606G>A (p.Gly202=)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000265631]	Chr19:12885624 [GRCh38] Chr19:12996438 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.4(KLF1):c.*22T>A	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000259919]	Chr19:12884863 [GRCh38] Chr19:12995677 [GRCh37] Chr19:19p13.13	benign\|likely benign
NM_006563.4(KLF1):c.*367C>G	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000314638]	Chr19:12884518 [GRCh38] Chr19:12995332 [GRCh37] Chr19:19p13.13	likely benign\|uncertain significance
NM_006563.4(KLF1):c.311C>T (p.Ala104Val)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000296138]	Chr19:12885919 [GRCh38] Chr19:12996733 [GRCh37] Chr19:19p13.13	benign\|likely benign
NM_006563.4(KLF1):c.*263C>T	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000263507]	Chr19:12884622 [GRCh38] Chr19:12995436 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.4(KLF1):c.*254C>T	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000299855]	Chr19:12884631 [GRCh38] Chr19:12995445 [GRCh37] Chr19:19p13.13	benign\|uncertain significance
NM_006563.4(KLF1):c.353G>A (p.Gly118Asp)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000345252]	Chr19:12885877 [GRCh38] Chr19:12996691 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.4(KLF1):c.255G>A (p.Pro85=)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV000337856]	Chr19:12885975 [GRCh38] Chr19:12996789 [GRCh37] Chr19:19p13.13	uncertain significance
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	copy number loss	See cases [RCV000449161]	Chr19:12204632..13497073 [GRCh37] Chr19:19p13.2	pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	copy number gain	See cases [RCV000446985]	Chr19:9678768..14853426 [GRCh37] Chr19:19p13.2-13.12	pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	copy number loss	See cases [RCV000511130]	Chr19:12574343..14726197 [GRCh37] Chr19:19p13.2-13.12	pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	copy number gain	See cases [RCV000511013]	Chr19:11608072..14543046 [GRCh37] Chr19:19p13.2-13.12	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_006563.4(KLF1):c.421C>T (p.Arg141Ter)	single nucleotide variant	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000617799]	Chr19:12885809 [GRCh38] Chr19:12996623 [GRCh37] Chr19:19p13.13	affects
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_006563.5(KLF1):c.1059C>T (p.His353=)	single nucleotide variant	not provided [RCV000940567]	Chr19:12884915 [GRCh38] Chr19:12995729 [GRCh37] Chr19:19p13.13	likely benign
NM_006563.5(KLF1):c.19G>A (p.Ala7Thr)	single nucleotide variant	not provided [RCV000966611]	Chr19:12887122 [GRCh38] Chr19:12997936 [GRCh37] Chr19:19p13.13	likely benign
NM_006563.5(KLF1):c.809C>G (p.Ser270Trp)	single nucleotide variant	BLOOD GROUP--LUTHERAN INHIBITOR [RCV000990154]	Chr19:12885421 [GRCh38] Chr19:12996235 [GRCh37] Chr19:19p13.13	benign
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	copy number loss	not provided [RCV000846538]	Chr19:12354642..13424014 [GRCh37] Chr19:19p13.2	pathogenic
NM_006563.5(KLF1):c.803G>T (p.Arg268Leu)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV001126602]	Chr19:12885427 [GRCh38] Chr19:12996241 [GRCh37] Chr19:19p13.13	benign
NM_006563.5(KLF1):c.1079G>A (p.Arg360His)	single nucleotide variant	Epicanthus [RCV001198332]	Chr19:12884895 [GRCh38] Chr19:12995709 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.5(KLF1):c.541T>A (p.Tyr181Asn)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV001128657]	Chr19:12885689 [GRCh38] Chr19:12996503 [GRCh37] Chr19:19p13.13	benign
NM_006563.5(KLF1):c.409C>T (p.Arg137Cys)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV001128658]	Chr19:12885821 [GRCh38] Chr19:12996635 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.5(KLF1):c.*2C>T	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV001123935]	Chr19:12884883 [GRCh38] Chr19:12995697 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.5(KLF1):c.1036C>T (p.Arg346Cys)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV001126600]	Chr19:12884938 [GRCh38] Chr19:12995752 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.5(KLF1):c.1016T>C (p.Phe339Ser)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV001126601]	Chr19:12884958 [GRCh38] Chr19:12995772 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.5(KLF1):c.676G>A (p.Ala226Thr)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV001126604]	Chr19:12885554 [GRCh38] Chr19:12996368 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.5(KLF1):c.757G>A (p.Glu253Lys)	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV001126603]	Chr19:12885473 [GRCh38] Chr19:12996287 [GRCh37] Chr19:19p13.13	benign
NM_006563.5(KLF1):c.*312G>C	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV001122850]	Chr19:12884573 [GRCh38] Chr19:12995387 [GRCh37] Chr19:19p13.13	uncertain significance
NM_006563.5(KLF1):c.-43G>A	single nucleotide variant	Congenital dyserythropoietic anemia, type IV [RCV001122969]	Chr19:12887183 [GRCh38] Chr19:12997997 [GRCh37] Chr19:19p13.13	likely benign

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:6345	AgrOrtholog
COSMIC	KLF1	COSMIC
Ensembl Genes	ENSG00000105610	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000264834	ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000264834	ENTREZGENE, UniProtKB/Swiss-Prot
GTEx	ENSG00000105610	GTEx
HGNC ID	HGNC:6345	ENTREZGENE
Human Proteome Map	KLF1	Human Proteome Map
InterPro	EKLF_TAD1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EKLF_TAD2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_C2H2_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_C2H2_type	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:10661	UniProtKB/Swiss-Prot
NCBI Gene	10661	ENTREZGENE
OMIM	111150	OMIM
	600599	OMIM
	613566	OMIM
	613673	OMIM
Pfam	EKLF_TAD1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EKLF_TAD2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	zf-C2H2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA30131	PharmGKB
PROSITE	ZINC_FINGER_C2H2_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZINC_FINGER_C2H2_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ZnF_C2H2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF57667	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene	Hs.37860	ENTREZGENE
UniProt	A0A0U4CJG7_HUMAN	UniProtKB/TrEMBL
	A0A0U4D3U3_HUMAN	UniProtKB/TrEMBL
	A0A0U4DAW6_HUMAN	UniProtKB/TrEMBL
	A0A0U4DXB2_HUMAN	UniProtKB/TrEMBL
	A0A0U4EBD4_HUMAN	UniProtKB/TrEMBL
	A0A172M5U0_HUMAN	UniProtKB/TrEMBL
	A0A1U9WYY8_HUMAN	UniProtKB/TrEMBL
	A0A223PZB5_HUMAN	UniProtKB/TrEMBL
	A0A3G5ECL4_HUMAN	UniProtKB/TrEMBL
	B7TQ30_HUMAN	UniProtKB/TrEMBL
	B7TQ31_HUMAN	UniProtKB/TrEMBL
	B9UZC3_HUMAN	UniProtKB/TrEMBL
	B9UZC4_HUMAN	UniProtKB/TrEMBL
	B9UZC5_HUMAN	UniProtKB/TrEMBL
	B9UZC6_HUMAN	UniProtKB/TrEMBL
	B9UZC7_HUMAN	UniProtKB/TrEMBL
	K7VKE0_HUMAN	UniProtKB/TrEMBL
	KLF1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	Q6PIJ5	UniProtKB/Swiss-Prot
	Q92899	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-06-07	KLF1	Kruppel like factor 1		Kruppel-like factor 1 (erythroid)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM