KLF1 | ENSG00000105610 | NCBI 10661

Details for: KLF1

Gene ID: 10661

Symbol: KLF1

Ensembl ID: ENSG00000105610

Description: KLF transcription factor 1

Associated with

Cellular response to peptide
(GO:1901653)
Chromatin
(GO:0000785)
Dna-binding transcription factor activity
(GO:0003700)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Erythrocyte differentiation
(GO:0030218)
Maternal process involved in female pregnancy
(GO:0060135)
Metal ion binding
(GO:0046872)
Nucleoplasm
(GO:0005654)
Nucleus
(GO:0005634)
Positive regulation of dna-templated transcription
(GO:0045893)
Protein binding
(GO:0005515)
Regulation of dna-templated transcription
(GO:0006355)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Transcription cis-regulatory region binding
(GO:0000976)

Other Information

Proteins

Krueppel-like factor 1

Genular Protein ID: 1319463468

Symbol: KLF1_HUMAN

Name: Krueppel-like factor 1

UniProtKB Accession Codes:

Q13351 Q6PIJ5 Q92899

Database IDs:

Citations:

PubMed ID: 8924208

Title: Isolation, genomic structure, and expression of human erythroid Kruppel-like factor (EKLF).

PubMed ID: 8924208

DOI: 10.1089/dna.1996.15.347

PubMed ID: 9119377

Title: The human erythroid-specific transcription factor EKLF localizes to chromosome 19p13.12-p13.13.

PubMed ID: 9119377

DOI: 10.1006/geno.1996.4472

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9707565

Title: Acetylation and modulation of erythroid Krueppel-like factor (EKLF) activity by interaction with histone acetyltransferases.

PubMed ID: 9707565

DOI: 10.1073/pnas.95.17.9855

PubMed ID: 21055716

Title: A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.

PubMed ID: 21055716

DOI: 10.1016/j.ajhg.2010.10.010

PubMed ID: 20676099

Title: Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.

PubMed ID: 20676099

DOI: 10.1038/ng.630

PubMed ID: 31375868

Title: The evolution of the 9aaTAD domain in Sp2 proteins: inactivation with valines and intron reservoirs.

PubMed ID: 31375868

DOI: 10.1007/s00018-019-03251-w

PubMed ID: 21670263

Title: Structural and functional characterization of an atypical activation domain in erythroid Kruppel-like factor (EKLF).

PubMed ID: 21670263

DOI: 10.1073/pnas.1017029108

PubMed ID: 18487511

Title: Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype.

PubMed ID: 18487511

DOI: 10.1182/blood-2008-03-145672

PubMed ID: 24829204

Title: KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of beta-thalassemia.

PubMed ID: 24829204

DOI: 10.1182/blood-2014-03-561779

PubMed ID: 25585695

Title: Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.

PubMed ID: 25585695

DOI: 10.1038/ejhg.2014.291

PubMed ID: 25690802

Title: A new Krueppel-like factor 1 mutation (c.947G > A or p.C316Y) in humans causes beta-thalassemia minor.

PubMed ID: 25690802

DOI: 10.3109/03630269.2015.1008702

Sequence Information:

Length: 362
Mass: 38221
Checksum: 6E9A48A2B6A37C76
Sequence:

MATAETALPS ISTLTALGPF PDTQDDFLKW WRSEEAQDMG PGPPDPTEPP LHVKSEDQPG 
EEEDDERGAD ATWDLDLLLT NFSGPEPGGA PQTCALAPSE ASGAQYPPPP ETLGAYAGGP 
GLVAGLLGSE DHSGWVRPAL RARAPDAFVG PALAPAPAPE PKALALQPVY PGPGAGSSGG 
YFPRTGLSVP AASGAPYGLL SGYPAMYPAP QYQGHFQLFR GLQGPAPGPA TSPSFLSCLG 
PGTVGTGLGG TAEDPGVIAE TAPSKRGRRS WARKRQAAHT CAHPGCGKSY TKSSHLKAHL 
RTHTGEKPYA CTWEGCGWRF ARSDELTRHY RKHTGQRPFR CQLCPRAFSR SDHLALHMKR 
HL

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: KLF1

Associated with

Other Information

Isolation, genomic structure, and expression of human erythroid Kruppel-like factor (EKLF). PubMed ID: 8924208

The human erythroid-specific transcription factor EKLF localizes to chromosome 19p13.12-p13.13. PubMed ID: 9119377

The DNA sequence and biology of human chromosome 19. PubMed ID: 15057824

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Acetylation and modulation of erythroid Krueppel-like factor (EKLF) activity by interaction with histone acetyltransferases. PubMed ID: 9707565

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. PubMed ID: 21055716

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. PubMed ID: 20676099

The evolution of the 9aaTAD domain in Sp2 proteins: inactivation with valines and intron reservoirs. PubMed ID: 31375868

Structural and functional characterization of an atypical activation domain in erythroid Kruppel-like factor (EKLF). PubMed ID: 21670263

Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype. PubMed ID: 18487511

KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of beta-thalassemia. PubMed ID: 24829204

Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin. PubMed ID: 25585695

A new Krueppel-like factor 1 mutation (c.947G &gt; A or p.C316Y) in humans causes beta-thalassemia minor. PubMed ID: 25690802