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Protein

Krueppel-like factor 1

Gene

KLF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters. When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation.By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri279 – 303C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri309 – 333C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri339 – 361C2H2-type 3PROSITE-ProRule annotationAdd BLAST23

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

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SIGNORi
Q13351

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Krueppel-like factor 1
Alternative name(s):
Erythroid krueppel-like transcription factor
Short name:
EKLF
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KLF1
Synonyms:EKLF
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000105610.4

Human Gene Nomenclature Database

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HGNCi
HGNC:6345 KLF1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600599 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q13351

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Anemia, congenital dyserythropoietic, 4 (CDAN4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA blood disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDA4 also have increased levels of fetal hemoglobin.
See also OMIM:613673
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064901325E → K in CDAN4; has a dominant-negative effect on the transcriptional activation of CD44 and AQP1 promoters. 1 PublicationCorresponds to variant dbSNP:rs267607201EnsemblClinVar.1

Keywords - Diseasei

Congenital dyserythropoietic anemia, Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNET

More...
DisGeNETi
10661

MalaCards human disease database

More...
MalaCardsi
KLF1
MIMi111150 phenotype
613566 phenotype
613673 phenotype

Open Targets

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OpenTargetsi
ENSG00000105610

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
293825 Congenital dyserythropoietic anemia type IV
46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30131

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3407313

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
KLF1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2501699

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000471601 – 362Krueppel-like factor 1Add BLAST362

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei23Phosphothreonine; by CK2By similarityCurated1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki54Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residuei184Omega-N-methylarginineBy similarity1
Modified residuei274N6-acetyllysineBy similarity1
Modified residuei288N6-acetyllysineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Acetylated; can be acetylated on both Lys-274 and Lys-288. Acetylation on Lys-274 (by CBP) appears to be the major site affecting EKLF transactivation activity (By similarity).By similarity
Sumoylated; sumoylation, promoted by PIAS1, leads to repression of megakaryocyte differentiation. Also promotes the interaction with the CDH4 subunit of the NuRD repression complex (By similarity).By similarity
Phosphorylated primarily on serine residues in the transactivation domain. Phosphorylation on Thr-23 is critical for the transactivation activity (By similarity).By similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q13351

MaxQB - The MaxQuant DataBase

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MaxQBi
Q13351

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q13351

PeptideAtlas

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PeptideAtlasi
Q13351

PRoteomics IDEntifications database

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PRIDEi
Q13351

ProteomicsDB human proteome resource

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ProteomicsDBi
59335

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q13351

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q13351

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expression restricted to adult bone marrow and fetal liver. Not expressed in myeloid nor lymphoid cell lines.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000105610 Expressed in 56 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

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CleanExi
HS_KLF1

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13351 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA051850

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PCAF; the interaction does not acetylate EKLF and inhibits its transactivation activity (By similarity). Interacts with CREBBP/CBP and EP300; the interactions enhance the transactivation activity. Interacts with TFB1.By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115904, 17 interactors

Database of interacting proteins

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DIPi
DIP-43776N

Protein interaction database and analysis system

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IntActi
Q13351, 23 interactors

Molecular INTeraction database

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MINTi
Q13351

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264834

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1362
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2L2INMR-B51-90[»]
2MBHNMR-B2-40[»]
2N23NMR-B22-40[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q13351

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q13351

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q13351

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1 – 263Pro-richAdd BLAST263
Compositional biasi61 – 76Asp/Glu-rich (acidic)Add BLAST16

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri279 – 303C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri309 – 333C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri339 – 361C2H2-type 3PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161856

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000060173

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG006220

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13351

KEGG Orthology (KO)

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KOi
K09204

Identification of Orthologs from Complete Genome Data

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OMAi
WDGCGWR

Database of Orthologous Groups

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OrthoDBi
1318335at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13351

TreeFam database of animal gene trees

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TreeFami
TF350556

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR031786 EKLF_TAD1
IPR031784 EKLF_TAD2
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

Pfam protein domain database

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Pfami
View protein in Pfam
PF16832 EKLF_TAD1, 1 hit
PF16833 EKLF_TAD2, 1 hit
PF00096 zf-C2H2, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00355 ZnF_C2H2, 3 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57667 SSF57667, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 3 hits
PS50157 ZINC_FINGER_C2H2_2, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q13351-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MATAETALPS ISTLTALGPF PDTQDDFLKW WRSEEAQDMG PGPPDPTEPP
60 70 80 90 100
LHVKSEDQPG EEEDDERGAD ATWDLDLLLT NFSGPEPGGA PQTCALAPSE
110 120 130 140 150
ASGAQYPPPP ETLGAYAGGP GLVAGLLGSE DHSGWVRPAL RARAPDAFVG
160 170 180 190 200
PALAPAPAPE PKALALQPVY PGPGAGSSGG YFPRTGLSVP AASGAPYGLL
210 220 230 240 250
SGYPAMYPAP QYQGHFQLFR GLQGPAPGPA TSPSFLSCLG PGTVGTGLGG
260 270 280 290 300
TAEDPGVIAE TAPSKRGRRS WARKRQAAHT CAHPGCGKSY TKSSHLKAHL
310 320 330 340 350
RTHTGEKPYA CTWEGCGWRF ARSDELTRHY RKHTGQRPFR CQLCPRAFSR
360
SDHLALHMKR HL
Length:362
Mass (Da):38,221
Last modified:November 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6E9A48A2B6A37C76
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti163A → G in AAC51108 (PubMed:9119377).Curated1
Sequence conflicti173P → A in AAC51108 (PubMed:9119377).Curated1
Sequence conflicti184R → G in AAC51108 (PubMed:9119377).Curated1
Sequence conflicti192A → E in AAC51108 (PubMed:9119377).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in KLF1 underlie the fetal hemoglobin quantitative trait locus 6 (HBFQTL6) [MIMi:613566]. Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. In healthy adults, fetal hemoglobin (HbF) is present at residual levels (less than 0.06% of total hemoglobin) with over 20-fold variation. Ten to fifteen percent of adults fall within the upper tail of the distribution.1 Publication
Genetic variations in KLF1 underlie the blood group-Lutheran inhibitor (In(Lu)) phenotype [MIMi:111150]; also known as dominant Lu (a-b-) phenotype. In(Lu) is characterized phenotypically by the apparent absence of the Lu antigen (BCAM) on red blood cells during serologic tests: Lu(a-b-).1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0742725E → K1 PublicationCorresponds to variant dbSNP:rs483352842EnsemblClinVar.1
Natural variantiVAR_043981102S → P2 PublicationsCorresponds to variant dbSNP:rs2072597EnsemblClinVar.1
Natural variantiVAR_043982182F → L. Corresponds to variant dbSNP:rs2072596EnsemblClinVar.1
Natural variantiVAR_072737298A → P Found in a patient with autosomal recessive microcytic hypochromic anemia and increased fetal hemoglobin; compound heterozygous with a frameshift mutation of the same gene; unknown pathological significance; no effect on protein abundance; no effect on protein localization; decreased transcriptional activity. 2 PublicationsCorresponds to variant dbSNP:rs387907598EnsemblClinVar.1
Natural variantiVAR_074273299H → D1 PublicationCorresponds to variant dbSNP:rs137852688EnsemblClinVar.1
Natural variantiVAR_058108299H → Y in blood group-In(Lu). 1 PublicationCorresponds to variant dbSNP:rs137852688EnsemblClinVar.1
Natural variantiVAR_074274316C → W1 Publication1
Natural variantiVAR_064901325E → K in CDAN4; has a dominant-negative effect on the transcriptional activation of CD44 and AQP1 promoters. 1 PublicationCorresponds to variant dbSNP:rs267607201EnsemblClinVar.1
Natural variantiVAR_058109328R → H in blood group-In(Lu). 1 PublicationCorresponds to variant dbSNP:rs140252918Ensembl.1
Natural variantiVAR_058110328R → L in blood group-In(Lu). 1 Publication1
Natural variantiVAR_058111331R → G in blood group-In(Lu). 1 Publication1
Natural variantiVAR_074275334T → R1 PublicationCorresponds to variant dbSNP:rs483352841EnsemblClinVar.1
Natural variantiVAR_072738338P → S Found in a patient with autosomal recessive microcytic hypochromic anemia and increased fetal hemoglobin; with microcytic hypochromic anemia; compound heterozygous with a frameshift mutation of the same gene; no effect on protein abundance; no effect on protein localization; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387907599EnsemblClinVar.1
Natural variantiVAR_074276341C → Y1 PublicationCorresponds to variant dbSNP:rs483352839EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U37106 Genomic DNA Translation: AAC50562.1
U65404 mRNA Translation: AAC51108.1
AD000092 Genomic DNA Translation: AAB51173.1
BC033580 mRNA Translation: AAH33580.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS12285.1

Protein sequence database of the Protein Information Resource

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PIRi
T45072

NCBI Reference Sequences

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RefSeqi
NP_006554.1, NM_006563.4

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.37860

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000264834; ENSP00000264834; ENSG00000105610

Database of genes from NCBI RefSeq genomes

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GeneIDi
10661

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10661

UCSC genome browser

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UCSCi
uc002mvo.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U37106 Genomic DNA Translation: AAC50562.1
U65404 mRNA Translation: AAC51108.1
AD000092 Genomic DNA Translation: AAB51173.1
BC033580 mRNA Translation: AAH33580.1
CCDSiCCDS12285.1
PIRiT45072
RefSeqiNP_006554.1, NM_006563.4
UniGeneiHs.37860

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2L2INMR-B51-90[»]
2MBHNMR-B2-40[»]
2N23NMR-B22-40[»]
ProteinModelPortaliQ13351
SMRiQ13351
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115904, 17 interactors
DIPiDIP-43776N
IntActiQ13351, 23 interactors
MINTiQ13351
STRINGi9606.ENSP00000264834

Chemistry databases

ChEMBLiCHEMBL3407313

PTM databases

iPTMnetiQ13351
PhosphoSitePlusiQ13351

Polymorphism and mutation databases

BioMutaiKLF1
DMDMi2501699

Proteomic databases

jPOSTiQ13351
MaxQBiQ13351
PaxDbiQ13351
PeptideAtlasiQ13351
PRIDEiQ13351
ProteomicsDBi59335

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264834; ENSP00000264834; ENSG00000105610
GeneIDi10661
KEGGihsa:10661
UCSCiuc002mvo.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10661
DisGeNETi10661
EuPathDBiHostDB:ENSG00000105610.4

GeneCards: human genes, protein and diseases

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GeneCardsi
KLF1
HGNCiHGNC:6345 KLF1
HPAiHPA051850
MalaCardsiKLF1
MIMi111150 phenotype
600599 gene
613566 phenotype
613673 phenotype
neXtProtiNX_Q13351
OpenTargetsiENSG00000105610
Orphaneti293825 Congenital dyserythropoietic anemia type IV
46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
PharmGKBiPA30131

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000161856
HOGENOMiHOG000060173
HOVERGENiHBG006220
InParanoidiQ13351
KOiK09204
OMAiWDGCGWR
OrthoDBi1318335at2759
PhylomeDBiQ13351
TreeFamiTF350556

Enzyme and pathway databases

SIGNORiQ13351

Miscellaneous databases

EvolutionaryTraceiQ13351

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
10661

Protein Ontology

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PROi
PR:Q13351

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000105610 Expressed in 56 organ(s), highest expression level in liver
CleanExiHS_KLF1
GenevisibleiQ13351 HS

Family and domain databases

InterProiView protein in InterPro
IPR031786 EKLF_TAD1
IPR031784 EKLF_TAD2
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF16832 EKLF_TAD1, 1 hit
PF16833 EKLF_TAD2, 1 hit
PF00096 zf-C2H2, 3 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 3 hits
SUPFAMiSSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 3 hits
PS50157 ZINC_FINGER_C2H2_2, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKLF1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13351
Secondary accession number(s): Q6PIJ5, Q92899
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: January 16, 2019
This is version 162 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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