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Gene

KLF1

KLF transcription factor 1

Summary

Cytogenetic location
19p13.13
Coordinates
Chromosome 19: 12,884,422–12,887,201 (GRCh38)
Exons
3 exons across 2.8 kb
Protein
362 amino acids
Also known as
EKLF
MANE Select transcript
ENST00000264834.6NM_006563.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Congenital Dyserythropoietic Anaemias

    • Congenital Dyserythropoietic Anaemia

      A group of conditions (types I to IV and related forms) caused by changes in genes such as CDAN1, CDIN1, SEC23B, KIF23, KLF1 and GATA1, mostly inherited recessively, with some dominant forms.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      A diagnosis guides monitoring and treatment of iron overload, which can develop even without transfusions; interferon-alpha can help in type I.

How KLF1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 19, with a bracket where KLF1 sits. KLF1 and 45 genes near it on chromosome 19, from 12,385,812 to 13,385,811.Chromosome 1919p13.13p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4312.4 Mb12.6 Mb12.8 Mb13 Mb13.2 MbZNF799: 12,390,016–12,401,280, reverse strandZNF799: 12,391,949–12,441,082, reverse strandZNF443: 12,429,706–12,441,021, reverse strandZNF443: 12,433,103–12,484,816, reverse strandZNF709: 12,461,184–12,513,854, reverse strandZNF709: 12,461,559–12,551,474, reverse strandZNF564: 12,524,903–12,551,542, reverse strandZNF564: 12,525,720–12,580,975, reverse strandZNF490: 12,575,832–12,640,098, reverse strandZNF490ZNF791: 12,610,916–12,633,840, forward strandZNF791MAN2B1: 12,643,831–12,666,762, reverse strand: 12,643,831–12,648,397, reverse strand: 12,664,828–12,669,397, reverse strandWDR83: 12,666,802–12,675,832, forward strandWDR83OS: 12,668,065–12,669,467, reverse strand: 12,668,071–12,681,834, reverse strandDHPS: 12,673,411–12,681,901, reverse strandDHPSFBXW9: 12,687,801–12,696,659, reverse strandFBXW9GNG14: 12,687,998–12,688,422, forward strandGNG14TNPO2: 12,699,111–12,724,011, reverse strandTNPO2TRIR: 12,730,640–12,734,747, reverse strandTRIRGET3: 12,737,139–12,748,325, forward strandGET3BEST2: 12,751,673–12,758,458, forward strandBEST2HOOK2: 12,762,640–12,872,740, reverse strandHOOK2JUNB: 12,791,486–12,793,315, forward strandPRDX2: 12,796,817–12,801,882, reverse strandTHSD8: 12,802,031–12,813,581, forward strandRNASEH2A: 12,806,505–12,813,644, forward strandRTBDN: 12,825,477–12,838,362, reverse strandRTBDNMAST1: 12,833,860–12,874,952, forward strandMAST1DNASE2: 12,875,209–12,881,595, reverse strandDNASE2KLF1: 12,884,422–12,887,201, reverse strandKLF1GCDH: 12,891,128–12,915,261, forward strandGCDHSYCE2: 12,898,786–12,919,306, reverse strandSYCE2FARSA: 12,921,138–12,934,037, reverse strandCALR: 12,938,578–12,944,525, forward strandCALRRAD23A: 12,945,716–12,953,646, forward strandGADD45GIP1: 12,950,701–12,957,333, reverse strandDAND5: 12,965,159–12,974,760, forward strandDAND5NFIX: 12,995,401–13,098,796, forward strandNFIXLYL1: 13,099,028–13,103,188, reverse strandLYL1TRMT1: 13,104,899–13,117,567, reverse strandTRMT1NACC1: 13,116,468–13,141,147, forward strandNACC1STX10: 13,144,058–13,150,383, reverse strandSTX10IER2: 13,150,403–13,156,981, forward strandIER2CACNA1A: 13,206,442–13,624,489, reverse strandCACNA1ADiagram of KLF1: 3 exons on the reverse strand of chromosome 19Exon 3: 1 known disease-causing siteExon 2: 6 known disease-causing sitesExon 3: 12,884,422–12,885,060, 639 basesExon 2: 12,885,317–12,886,142, 826 basesExon 1: 12,887,054–12,887,201, 148 bases3215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.6 kb of the gene's 2.8 kb; 1,089 of those bases code for the protein.

How a genome test reads KLF1

9

positions in KLF1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 2.8 kb of KLF1, introns included, not only the 1.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). KLF1 gene: KLF transcription factor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/klf1

Vancouver

Dante Labs. KLF1 gene: KLF transcription factor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/klf1

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