Seroatlas · Human Serome Atlas

RUNX1

Runt-related transcription factor 1

Also known as: AML1, AMLCR1, CBFA2, PEBP2A2, RUNX1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q01196
Gene
RUNX1
Ensembl
ENSG00000159216
Chromosome
21
Canonical length
453 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Vesicles

OverviewNCBI Gene

Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

453 residues, UniProt reviewed canonical sequence.

>Q01196|RUNX1
     1  MRIPVDASTS RRFTPPSTAL SPGKMSEALP LGAPDAGAAL AGKLRSGDRS MVEVLADHPG
    61  ELVRTDSPNF LCSVLPTHWR CNKTLPIAFK VVALGDVPDG TLVTVMAGND ENYSAELRNA
   121  TAAMKNQVAR FNDLRFVGRS GRGKSFTLTI TVFTNPPQVA TYHRAIKITV DGPREPRRHR
   181  QKLDDQTKPG SLSFSERLSE LEQLRRTAMR VSPHHPAPTP NPRASLNHST AFNPQPQSQM
   241  QDTRQIQPSP PWSYDQSYQY LGSIASPSVH PATPISPGRA SGMTTLSAEL SSRLSTAPDL
   301  TAFSDPRQFP ALPSISDPRM HYPGAFTYSP TPVTSGIGIG MSAMGSATRY HTYLPPPYPG
   361  SSQAQGGPFQ ASSPSYHLYY GASAGSYQFS MVGGERSPPR ILPPCTNAST GSALLNPSLP
   421  NQSDVVEAEG SHSNSPTNMA PSARLEEAVW RPY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RUNX1 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)
0.61
Highest tissue expression
43 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 43 nTPM
  • salivary gland: 37 nTPM
  • thymus: 26 nTPM
  • breast: 25 nTPM
  • lung: 21 nTPM
  • urinary bladder: 19 nTPM

Single-cell type

  • salivary duct cells: 1,812 nCPM
  • hematopoietic stem cells: 1,603 nCPM
  • megakaryocyte progenitors: 1,573 nCPM
  • neutrophil progenitors: 1,515 nCPM
  • megakaryocyte-erythroid progenitors: 1,466 nCPM
  • salivary basal cells: 1,412 nCPM

Immune cell

  • basophil: 24 nTPM
  • eosinophil: 7.1 nTPM
  • non-classical monocyte: 4.8 nTPM
  • T-reg: 4.6 nTPM
  • naive CD4 T-cell: 4.5 nTPM
  • memory B-cell: 4.2 nTPM

Brain region

  • thalamus: 23 nTPM
  • white matter: 20 nTPM
  • pons: 17 nTPM
  • medulla oblongata: 16 nTPM
  • choroid plexus: 14 nTPM
  • spinal cord: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RUNX1.

Disease | AllUniProt

Conditions RUNX1 is implicated in, by any mechanism.

  • Familial platelet disorder with associated myeloid malignancy (FPDMM) MIM:601399

Disease | GeneticClinVar

247 pathogenic / likely-pathogenic of 1,870 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.44
gnomAD pLI
0.65
gnomAD missense Z
2
DepMap mean gene effect
-0.04
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 RUNX1 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 RUNX1 as an antibody target. Whether an autoantibody or antibody against RUNX1 could matter depends on whether native RUNX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RUNX1 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 RUNX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RUNX1. 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).

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