Seroatlas · Human Serome Atlas

PBX1

Pre-B-cell leukemia transcription factor 1

Also known as: PBX1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P40424
Gene
PBX1
Ensembl
ENSG00000185630
Chromosome
1
Canonical length
430 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Nuclear bodies,Cytosol

OverviewNCBI Gene

This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]

Canonical amino-acid sequenceUniProt

430 residues, UniProt reviewed canonical sequence.

>P40424|PBX1
     1  MDEQPRLMHS HAGVGMAGHP GLSQHLQDGA GGTEGEGGRK QDIGDILQQI MTITDQSLDE
    61  AQARKHALNC HRMKPALFNV LCEIKEKTVL SIRGAQEEEP TDPQLMRLDN MLLAEGVAGP
   121  EKGGGSAAAA AAAAASGGAG SDNSVEHSDY RAKLSQIRQI YHTELEKYEQ ACNEFTTHVM
   181  NLLREQSRTR PISPKEIERM VSIIHRKFSS IQMQLKQSTC EAVMILRSRF LDARRKRRNF
   241  NKQATEILNE YFYSHLSNPY PSEEAKEELA KKCGITVSQV SNWFGNKRIR YKKNIGKFQE
   301  EANIYAAKTA VTATNVSAHG SQANSPSTPN SAGSSSSFNM SNSGDLFMSV QSLNGDSYQG
   361  AQVGANVQSQ VDTLRHVISQ TGGYSDGLAA SQMYSPQGIS ANGGWQDATT PSSVTSPTEG
   421  PGSVHSDTSN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PBX1 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)
0.49
Highest tissue expression
132 nTPM

Expression across tissuesHPA

Tissue

  • endometrium: 132 nTPM
  • smooth muscle: 127 nTPM
  • cervix: 81 nTPM
  • fallopian tube: 76 nTPM
  • seminal vesicle: 53 nTPM
  • ovary: 52 nTPM

Single-cell type

  • pituitary stem cells: 1,944 nCPM
  • myonuclei: 1,238 nCPM
  • megakaryocyte progenitors: 1,231 nCPM
  • adipocytes: 1,089 nCPM
  • adrenal cortex cells: 1000 nCPM
  • fibro-adipogenic progenitors: 984 nCPM

Immune cell

  • total PBMC: 0.8 nTPM
  • basophil: 0.7 nTPM
  • neutrophil: 0.2 nTPM
  • eosinophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • midbrain: 108 nTPM
  • basal ganglia: 83 nTPM
  • cerebral cortex: 73 nTPM
  • hypothalamus: 67 nTPM
  • spinal cord: 66 nTPM
  • amygdala: 65 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PBX1.

Disease | AllUniProt

Conditions PBX1 is implicated in, by any mechanism.

  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED) MIM:617641

Disease | GeneticClinVar

67 pathogenic / likely-pathogenic of 208 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
  • Inborn genetic diseases
  • PBX1-related disorder
  • coracoclavicular ankylosis
  • PBX1-related intellectual disability and pleiotropic developmental defects

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)
0.26
gnomAD pLI
1
gnomAD missense Z
3.83
DepMap mean gene effect
0.1
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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 PBX1 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 PBX1 as an antibody target. Whether an autoantibody or antibody against PBX1 could matter depends on whether native PBX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PBX1 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 PBX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PBX1. 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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