Seroatlas · Human Serome Atlas

KLF1

Krueppel-like factor 1

Also known as: EKLF, KLF1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13351
Gene
KLF1
Ensembl
ENSG00000105610
Chromosome
19
Canonical length
362 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

362 residues, UniProt reviewed canonical sequence.

>Q13351|KLF1
     1  MATAETALPS ISTLTALGPF PDTQDDFLKW WRSEEAQDMG PGPPDPTEPP LHVKSEDQPG
    61  EEEDDERGAD ATWDLDLLLT NFSGPEPGGA PQTCALAPSE ASGAQYPPPP ETLGAYAGGP
   121  GLVAGLLGSE DHSGWVRPAL RARAPDAFVG PALAPAPAPE PKALALQPVY PGPGAGSSGG
   181  YFPRTGLSVP AASGAPYGLL SGYPAMYPAP QYQGHFQLFR GLQGPAPGPA TSPSFLSCLG
   241  PGTVGTGLGG TAEDPGVIAE TAPSKRGRRS WARKRQAAHT CAHPGCGKSY TKSSHLKAHL
   301  RTHTGEKPYA CTWEGCGWRF ARSDELTRHY RKHTGQRPFR CQLCPRAFSR SDHLALHMKR
   361  HL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KLF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.64
Highest tissue expression
39 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 39 nTPM
  • spleen: 2.5 nTPM
  • placenta: 0.6 nTPM
  • liver: 0.4 nTPM
  • lung: 0.3 nTPM
  • skeletal muscle: 0.3 nTPM

Single-cell type

  • erythrocyte progenitors: 383 nCPM
  • megakaryocyte-erythroid progenitors: 146 nCPM
  • erythrocytes: 125 nCPM
  • megakaryocyte progenitors: 36 nCPM
  • megakaryocytes: 25 nCPM
  • hofbauer cells: 3.2 nCPM

Immune cell

  • intermediate monocyte: 1.9 nTPM
  • non-classical monocyte: 1.2 nTPM
  • total PBMC: 0.7 nTPM
  • classical monocyte: 0.6 nTPM
  • myeloid DC: 0.2 nTPM
  • neutrophil: 0.2 nTPM

Brain region

  • cerebral cortex: 0.5 nTPM
  • amygdala: 0.4 nTPM
  • basal ganglia: 0.4 nTPM
  • hypothalamus: 0.4 nTPM
  • medulla oblongata: 0.4 nTPM
  • midbrain: 0.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KLF1.

Disease | AllUniProt

Conditions KLF1 is implicated in, by any mechanism.

  • Anemia, congenital dyserythropoietic, 4A (CDAN4A) MIM:613673
  • Anemia, congenital dyserythropoietic, 4B (CDAN4B) MIM:620969

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 242 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • BLOOD GROUP--LUTHERAN INHIBITOR
  • Anemia, congenital dyserythropoietic, type IVb
  • Congenital dyserythropoietic anemia type 4
  • FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
  • KLF1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.13
gnomAD pLI
0
gnomAD missense Z
0.85
DepMap mean gene effect
-0.13
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KLF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KLF1 as an antibody target. Whether an autoantibody or antibody against KLF1 could matter depends on whether native KLF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KLF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label KLF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KLF1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...