Seroatlas · Human Serome Atlas

RUNX1T1

Protein CBFA2T1

Also known as: AML1T1, CBFA2T1, CDR, ETO, MTG8, MTG8_HUMAN, ZMYND2

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

Protein identityUniProt · HPA

UniProt accession
Q06455
Gene
RUNX1T1
Ensembl
ENSG00000079102
Chromosome
8
Canonical length
604 aa
Protein class
Cancer-related genes, Disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

Canonical amino-acid sequenceUniProt

604 residues, UniProt reviewed canonical sequence.

>Q06455|RUNX1T1
     1  MISVKRNTWR ALSLVIGDCR KKGNFEYCQD RTEKHSTMPD SPVDVKTQSR LTPPTMPPPP
    61  TTQGAPRTSS FTPTTLTNGT SHSPTALNGA PSPPNGFSNG PSSSSSSSLA NQQLPPACGA
   121  RQLSKLKRFL TTLQQFGNDI SPEIGERVRT LVLGLVNSTL TIEEFHSKLQ EATNFPLRPF
   181  VIPFLKANLP LLQRELLHCA RLAKQNPAQY LAQHEQLLLD ASTTSPVDSS ELLLDVNENG
   241  KRRTPDRTKE NGFDREPLHS EHPSKRPCTI SPGQRYSPNN GLSYQPNGLP HPTPPPPQHY
   301  RLDDMAIAHH YRDSYRHPSH RDLRDRNRPM GLHGTRQEEM IDHRLTDREW AEEWKHLDHL
   361  LNCIMDMVEK TRRSLTVLRR CQEADREELN YWIRRYSDAE DLKKGGGSSS SHSRQQSPVN
   421  PDPVALDAHR EFLHRPASGY VPEEIWKKAE EAVNEVKRQA MTELQKAVSE AERKAHDMIT
   481  TERAKMERTV AEAKRQAAED ALAVINQQED SSESCWNCGR KASETCSGCN TARYCGSFCQ
   541  HKDWEKHHHI CGQTLQAQQQ GDTPAVSSSV TPNSGAGSPM DTPPAATPRS TTPGTPSTIE
   601  TTPR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RUNX1T1 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)
0.56
Highest tissue expression
17 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 17 nTPM
  • cervix: 8 nTPM
  • heart muscle: 7.7 nTPM
  • endometrium: 7.3 nTPM
  • smooth muscle: 6.3 nTPM
  • adipose tissue: 5.5 nTPM

Single-cell type

  • fibro-adipogenic progenitors: 911 nCPM
  • brain excitatory neurons: 516 nCPM
  • corticotrophs: 449 nCPM
  • lactotrophs: 420 nCPM
  • leydig cells: 387 nCPM
  • retinal bipolar cells: 375 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebellum: 213 nTPM
  • cerebral cortex: 68 nTPM
  • basal ganglia: 68 nTPM
  • midbrain: 66 nTPM
  • amygdala: 50 nTPM
  • white matter: 47 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RUNX1T1.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 105 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)
0.31
gnomAD pLI
0.98
gnomAD missense Z
2.17
DepMap mean gene effect
-0.07
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 RUNX1T1 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 RUNX1T1 as an antibody target. Whether an autoantibody or antibody against RUNX1T1 could matter depends on whether native RUNX1T1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RUNX1T1 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 RUNX1T1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RUNX1T1. 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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