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Symbol PBX1 contributors: Shn - updated : 20-01-2020
HGNC name pre-B-cell leukemia homeobox 1
HGNC id 8632
Corresponding disease
CAKUTHED congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Location 1q23.3      Physical location : 164.528.801 - 164.821.045
Synonym name
  • pre-B-cell leukemia transcription factor 1
  • homeobox protein PBX1
  • homeobox protein PRL
  • PBX1/E2A fusion gene
  • Synonym symbol(s) PMX1, DKFZp686B09108, MGC126627, PRL, CAKUTHED, FLJ36189
    TYPE functioning gene
    STRUCTURE 326.86 kb     9 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - D1S2844 - D1S1677 - PBX1 - D1S2628 - D1S194 - qter
    Physical map
    FCGR2B 1q23 Fc fragment of IgG, low affinity IIb, receptor for (CD32) FREB 1q23.1 Fc fragment of IgG, low affinity IIb, receptor for (CD32) FLJ31052 1q23.1 hypothetical protein FLJ31052 DUSP12 1q22 dual specificity phosphatase 12 ATF6 1q22-q23 activating transcription factor 6 DKFZP586L151 1q23.1 DKFZP586L151 protein CAPON 1q23.1-q23.2 C-terminal PDZ domain ligand of neuronal nitric oxide synthase LOC284680 1q23.2 hypothetical protein LOC284680 EAT2 1q22 Homo sapiens SH2 domain-containing molecule EAT2 (EAT2), mRNA. KIS 1q23.2 kinase interacting with leukemia-associated gene (stathmin) UAP1 1q23.1 UDP-N-acteylglucosamine pyrophosphorylase 1 DDR2 1q21-q23 discoidin domain receptor family, member 2 HSD17B7 17p11.2 hydroxysteroid (17-beta) dehydrogenase 7 MGC48998 1q23.2 hypothetical protein MGC48998 RGS4 1q23.2 regulator of G-protein signalling 4 RGS5 1q23 regulator of G-protein signalling 5 CDCA1 1q23.1 cell division cycle associated 1 LOC388711 1 hypothetical gene supported by BC037210; NM_005342 PBX1 1q23 pre-B-cell leukemia transcription factor 1 LMX1A 1q22-q23 LIM homeobox transcription factor 1, alpha RXRG 1q22-q23 retinoid X receptor, gamma LOC284684 1q23.2 similar to cDNA sequence BC004853 LOC391125 1 similar to ribosomal protein S2; 40S ribosomal protein S2 MGST3 1q23 microsomal glutathione S-transferase 3 ALDH9A1 1q22-q23 aldehyde dehydrogenase 9 family, member A1 LOC54499 1q22-q25 putative membrane protein LOC391126 1 similar to 60S ribosomal protein L26 UMPK 1p34.1-p33 uridine monophosphate kinase LOC391127 1 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC149297 1q23.3 similar to RIKEN cDNA C030014K22 gene LOC284685 1q23.3 similar to Ewing sarcoma breakpoint region 1 isoform EWS LOC391128 1 similar to hypothetical protein 4831428F09 LOC116123 1q23.3 hypothetical protein BC014341 LOC391129 1 similar to ribosomal protein L4; 60S ribosomal protein L4; homologue of Xenopus ribosomal protein L1 POGK 1q23.2 pogo transposable element with KRAB domain STAF42 1q23.3 SPT3-associated factor 42 LOC388712 1 similar to dJ782G3.1 (LISCH7 (liver-specific BHLH-ZIP transcription factor)) FLJ14904 1q23.3 hypothetical protein FLJ14904 GPA33 1q23.2 glycoprotein A33 (transmembrane) LOC92235 1q22-q24 hypothetical cardiac/skeletal muscle-expressed ORF LOC391130 1 similar to ribosomal protein S17 POU2F1 1q22-q23 POU domain, class 2, transcription factor 1 CD3Z 1q22-q23 CD3Z antigen, zeta polypeptide (TiT3 complex)
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 6683 - 430 - 2018 29694893
    9 - 3056 - 347 - 2018 29694893
    9 - 4162 - 420 - 2018 29694893
    8 - 6805 - 347 - 2018 29694893
    8 - 6474 - 347 - 2018 29694893
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovary  highly
     female systembreastmammary gland highly
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines human bone-derived cells and murine MC3T3-E1 pre-osteoblasts
    at STAGE
    physiological period fetal, pregnancy
  • most tissues
  • strongly associated with skeletal patterning during embryonic development
  • helix-turn-helix
  • DNA binding domain with an atypical homeo domain
  • TALE (three AA loop extension between helices) subfamily
    interspecies ortholog to Pbx1, Mus musculus
    ortholog to PBX1, Pan troglodytes
    ortholog to Pbx1, Rattus norvegicus
  • TALE (three-amino acid loop extension) class of homeodomain transcription factors
  • CATEGORY transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    text localized in the nucleus compartment
    basic FUNCTION
  • converted into a potent transcriptional activator by the (1;19) translocation
  • may be playing a role in steroidogenesis and sexual development
  • in skeletal patterning and programming chondrocyte proliferation and differentiation
  • play an important role in megakaryocytic gene expression
  • direct Notch3-regulated gene that mediates the survival signal of Notch3 in ovarian cancer
  • specifically required for the maintenance of bone marrow transformation mediated by MECOM
  • involved in MECOM-mediated leukemogenesis
  • associated with bone mineral density variation
  • up-regulating SOX3 gene expression with MEIS1
  • essential role in corneal morphogenesis
  • plays a central role in attenuating the ability of HOXA10 to activate osteoblast-related genes in order to establish temporal regulation of gene expression during osteogenesis
  • has a role in attenuating osteogenesis by repressing osteoblast gene expression at several stages
  • involvement of PBX1, MEIS1, PKNOX1 during the early development in mammals
  • regulates the lineage-specific output of multipotent and oligopotent progenitors
  • role for PBX1 in restraining myeloid maturation while maintaining lymphoid potential to appropriately regulate progenitor reservoirs
  • novel roles for PBX1 and its transcriptional network in midbrain dopaminergic neurons (mDAn) development and Parkinson disease (PD)
  • PKNOX1 and PBX1 are homeodomain (HD) transcription factors that play crucial roles in embryonic development
  • displays oncogenic activity in several different types of cells,
  • CELLULAR PROCESS nucleotide, transcription
    a component
  • binding (atypical homeodomain)
  • binding cooperatively with the heterodimer E2A/myogenic transcription factors
  • RNA
    small molecule
  • homeobox A5, HOXA5
  • Pbx regulating protein-1, PREP1 (Berthelsen et al, 1998)
  • homeobox B1, HOXB1
  • Meis homeobox 1, MEIS1; homeobox D9, HOXD9
  • regulates the activity of insulin promoter factor 1, Ipf1
  • homeobox B8, HOXB8
  • essential for normal pancreatic development and function
  • glucocorticoid receptor, GR
  • interaction with HOXA10 (acting to reduce HOXA10-mediated transcriptional activation at bone-specific promoters)
  • PBX1 was found to bind directly to the EPHA7 promoter in the developing cortex
  • PKNOX1 posttranslationally controls the level of MEIS1, decreasing its stability by sequestering PBX1
  • PBX1, a homeodomain transcription factor, is required in the lung mesenchyme for the expression of FGF10
  • PBX1 directly binds to the FGF10 promoter and cooperates with MEIS and HOX proteins to transcriptionally activate FGF10
  • PBX1 plays a central role in regulating the ESR1 transcriptional response to epidermal growth factor (EGF) signaling
  • PTBP1 controls the activity of PBX1 to suppress its neuronal transcriptional program prior to induction of neuronal progenitor cells (NPC) development
  • PBX1 regulates adult neural cell fate determination in a manner beyond that of its heterodimerization partner MEIS2
  • USP9X is a deubiquitinase of PBX1
  • MN1 participates in transcriptional regulation of target genes through interaction with the transcription factors PBX1, PKNOX1, and ZBTB24
  • cell & other
    induced by MECOM
    repressed by during osteoblast maturation
    corresponding disease(s) CAKUTHED
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with TCF3 t(1;19) (q23;p13.3)in acute lymphoid leukemia
    tumoral fusion      
    with EWSR1 in (1;22)(q23;q12) in myoepithelioma
    silencing decreased the expression of RUNX2 and OSTERIX, the critical transcription factors for osteogenesis, but accelerated cell proliferation and bone nodule formation
    constitutional       loss of function
    results in persistent truncus arteriosus
    tumoral   amplification    
    in ESR1-positive breast cancer patients are characterized by poor survival
    Susceptibility to bone mineral density variation
    Variant & Polymorphism
    Candidate gene
  • promising candidate gene for non-syndromic cleft lip/palate
  • Marker
    Therapy target
    targeting the USP9X/PBX1 axis could be a potential therapeutic strategy for managing advanced prostate cancer
  • Pbx1-deficient mice die at embryonic day 15/16 with severe hypoplasia or aplasia of multiple organs and widespread patterning defects of the axial and appendicular skeleton
  • Pbx-dependent EMT programs mediate murine upper lip/primary palate morphogenesis and fusion via regulation of Snail1
  • Pbx1-/- mouse embryos have pancreatic hypoplasia and marked defects in exocrine and endocrine cell differentiation prior to death at embryonic day (E) 15 or E16
  • Pbx1+/- adult mice have pancreatic islet malformations, impaired glucose tolerance and hypoinsulinemia
  • Silencing of PBX1 by RNAi in MC3T3-E1 cells decreased the expression of Runx2 and Osterix, the critical transcription factors for osteogenesis, but accelerated cell proliferation and bone nodule formation
  • tissue-specific deletion of Pbx1 in mice corneal epithelium results in corneal dystrophy