PBX1Gene Detail-Gene Database-Genelibs

PBX1 (PBX homeobox 1)

symbol

PBX1

locus group

protein-coding gene

location

1q23.3

gene_family

TALE class homeboxes and pseudogenes

alias symbol

-

alias name

None

entrez id

5087

ensembl gene id

ENSG00000185630

ucsc gene id

uc001gct.4

refseq accession

NM_002585

hgnc_id

HGNC:8632

approved reserved

1990-09-10

1q23.3

ChineseEnglish

PBX1（Pre-B-cell leukemia homeobox 1）属于PBX基因家族，该家族是一类同源盒（homeobox）基因，编码转录因子，在胚胎发育和细胞分化中起关键作用。PBX家族成员（包括PBX1、PBX2、PBX3和PBX4）的共同特点是含有同源结构域，能够与其他转录因子（如HOX蛋白）形成复合物，调控下游靶基因的表达，从而影响器官形成、造血系统和神经系统发育等过程。PBX1主要在胚胎发育中表达，参与多种组织的形成，如骨骼、胰腺和心脏，并在成体组织中维持一定的表达水平以调控细胞增殖和分化。PBX1的突变或表达异常可能导致发育缺陷或疾病。例如，PBX1基因的易位（如与E2A基因融合）与儿童急性淋巴细胞白血病（ALL）的发生相关，这种突变会导致异常的转录调控，促进白血病细胞的增殖。此外，PBX1的某些突变还与先天性畸形（如肾脏或骨骼发育异常）有关。如果PBX1过表达，可能增强其与其他转录因子的结合能力，过度激活下游靶基因，导致细胞增殖失控，甚至促进肿瘤发生。相反，PBX1表达降低可能影响正常发育过程，导致组织功能障碍或发育迟缓。PBX1还与糖尿病有关，因为它在胰腺β细胞中调控胰岛素分泌相关基因的表达。PBX1的异常表达可能影响β细胞功能，进而影响血糖调控。总之，PBX1是一个重要的发育调控基因，其表达水平或功能的改变可能对机体产生广泛影响，包括发育异常、癌症和代谢疾病等。

这个基因编码属于该集团电话同源盒家族的转录因子的核蛋白质。在小鼠中的研究表明，该基因可能参与成骨的调节，以及对骨骼肌的图案化和编程所需。染色体易位，叔（1; 19），涉及该基因和TCF3 / E2A基因，与前B细胞急性淋巴细胞性白血病相关联。所得的融合蛋白，其中E2A的DNA结合结构域是由该蛋白质的DNA结合结构域取代，由组成性激活由PBX蛋白家族调节的基因的转录变换细胞。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的，2011年3月提供]

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, Mar 2011]

OMIM entry for PBX1 Wikipedia entry for PBX1

Nucleotide sequence of PBX1:[NCBI]

Loading Gene Browser...

Protein Sequence

1MDEQPRLMHS HAGVGMAGHP GLSQHLQDGA GGTEGEGGRK
41QDIGDILQQI MTITDQSLDE AQARKHALNC HRMKPALFNV
81
LCEIKEKTV LSIRGAQEEE PTDPQLMRLD NMLLAEGVAG
121PEKGGGSAAA AAAAAASGGA GSDNSVEHSD YRAKLSQIRQ
161I
YHTELEKY EQACNEFTTH VMNLLREQSR TRPISPKEIE
201RMVSIIHRKF SSIQMQLKQS TCEAVMILRS RFLDARRKRR
241NF
NKQATEI LNEYFYSHLS NPYPSEEAKE ELAKKCGITV
281SQVSNWFGNK RIRYKKNIGK FQEEANIYAA KTAVTATNVS
321AHG
SQANSP STPNSAGSSS SFNMSNSGDL FMSVQSLNGD
361SYQGAQVGAN VQSQVDTLRH VISQTGGYSD GLAASQMYSP
401QGIS
ANGGW QDATTPSSVT SPTEGPGSVH SDTSN

Structure predicted by AlphaFold DB(UniProt: P40424). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

SNP variants of PBX1: Showing partial SNPs

rs979388 rs2171690 rs2279469 rs3738196 rs3831955 rs6670655 rs10494421 rs10753646 rs10753647 rs10800047 rs10918068 rs11808339 rs12084358 rs12084395 rs12090754 rs12098218 rs12410837

Tissue expression of PBX1: [UniProt]

Forward Primer

Forward Tm

Reverse Primer

Reverse Tm

Score

AGAAATACGAGCAGGCCTG

60

TGACCATCCGCTCAATCTC

60

GGAGAAGGCAAAGGGAGAG

60

AGAACCACTGCCTTAAGCA

59

CAAGTGGGAAGGATTTGAAGAC

60

TCCATCTCCAAAGGCTACG

59

TCAGCTCACTGCAATCTCC

60

TCACCACAACCTCCATCTC

59

TTATCAGCCAGACAGGAGG

59

CCTCCATTAGCACTGATGC

58

TTTGACAAGCAACTACATGGC

60

ACACTTTCGATAACAACGCT

58

AAACAGACCTCGTTTCGTG

58

AATTTAAATGCCCTCCTGGG

58

CATCACAGACCAGAGTTTGG

59

TCTGTGGCAGTTTAAAGCA

58

AAGTGGGAAGGATTTGAAGAC

58

TCCATCTCCAAAGGCTACG

59

TCACAGACCAGAGTTTGGA

58

ATTCTGTGGCAGTTTAAAGC

57

Transcription Factors

Target Gene

Interaction Type

PubMed References

NR0B1

PBX1

Activation

18984668

NR5A1

PBX1

Activation

18984668

PBX1

HOXB1

Activation

17131398

PBX1

NANOG

Activation

19522013

PBX1

PF4

Activation

12609849

PBX1

SOX3

Unknown

19799567

PBX1

VCP

Activation

17200190

Subcellular localization of PBX1 (and its protein):

[UniProt] [GenomeNet]

plasma membrane
cytoplasm
extracellular
golgi
vesicle
cytoskeleton
endoplasmic reticulum
nucleus
endosome
lysosome
mitochondrion

Gene Ontology (GO) terms for PBX1:

GO ID

Protein

Source DB

GO:0003700

A0A087X0P4 (UniProtKB)

IEA

GO:0005634

A0A087X0P4 (UniProtKB)

IEA

GO:0006355

A0A087X0P4 (UniProtKB)

IEA

GO:0043565

A0A087X0P4 (UniProtKB)

IEA

GO:0003677

A0A0A0MTI0 (UniProtKB)

IEA

GO:0003677

A0A0A0MTI0 (UniProtKB)

IEA

GO:0003700

A0A0A0MTI0 (UniProtKB)

IEA

GO:0005634

A0A0A0MTI0 (UniProtKB)

IEA

GO:0006355

A0A0A0MTI0 (UniProtKB)

IEA

GO:0003700

F8WA05 (UniProtKB)

IEA

GO:0005634

F8WA05 (UniProtKB)

IEA

GO:0006355

F8WA05 (UniProtKB)

IEA

GO:0003700

H0YKH1 (UniProtKB)

IEA

GO:0005634

H0YKH1 (UniProtKB)

IEA

GO:0006355

H0YKH1 (UniProtKB)

IEA

GO:0003700

H0YLB0 (UniProtKB)

IEA

GO:0005634

H0YLB0 (UniProtKB)

IEA

GO:0006355

H0YLB0 (UniProtKB)

IEA

GO:0043565

H0YLB0 (UniProtKB)

IEA

GO:0003700

H0YLD4 (UniProtKB)

IEA

GO:0005634

H0YLD4 (UniProtKB)

IEA

GO:0006355

H0YLD4 (UniProtKB)

IEA

GO:0003677

H0YLF5 (UniProtKB)

IEA

GO:0003677

H0YLF5 (UniProtKB)

IEA

GO:0003700

H0YLF5 (UniProtKB)

IEA

GO:0005634

H0YLF5 (UniProtKB)

IEA

GO:0006355

H0YLF5 (UniProtKB)

IEA

GO:0003700

H0YLM3 (UniProtKB)

IEA

GO:0005634

H0YLM3 (UniProtKB)

IEA

GO:0006355

H0YLM3 (UniProtKB)

IEA

GO:0003700

H0YLT4 (UniProtKB)

IEA

GO:0005634

H0YLT4 (UniProtKB)

IEA

GO:0006355

H0YLT4 (UniProtKB)

IEA

GO:0000978

P40424 (UniProtKB)

IEA

GO:0001077

P40424 (UniProtKB)

IEA

GO:0001658

P40424 (UniProtKB)

IEA

GO:0003677

P40424 (UniProtKB)

IDA

GO:0003677

P40424 (UniProtKB)

IDA

GO:0003700

P40424 (UniProtKB)

NAS

GO:0005515

P40424 (UniProtKB)

IPI

GO:0005515

P40424 (UniProtKB)

IPI

GO:0005515

P40424 (UniProtKB)

IPI

GO:0005515

P40424 (UniProtKB)

IPI

GO:0005515

P40424 (UniProtKB)

IPI

GO:0005515

P40424 (UniProtKB)

IPI

GO:0005634

P40424 (UniProtKB)

IDA

GO:0005634

P40424 (UniProtKB)

IDA

GO:0005654

P40424 (UniProtKB)

TAS

GO:0005667

P40424 (UniProtKB)

IEA

GO:0005737

P40424 (UniProtKB)

IDA

GO:0006366

P40424 (UniProtKB)

IEA

GO:0006694

P40424 (UniProtKB)

IEA

GO:0007548

P40424 (UniProtKB)

IEA

GO:0008134

P40424 (UniProtKB)

IPI

GO:0008284

P40424 (UniProtKB)

IEA

GO:0009952

P40424 (UniProtKB)

IEA

GO:0009954

P40424 (UniProtKB)

IEA

GO:0010971

P40424 (UniProtKB)

IEA

GO:0030278

P40424 (UniProtKB)

IEA

GO:0030325

P40424 (UniProtKB)

IEA

GO:0030326

P40424 (UniProtKB)

IEA

GO:0035019

P40424 (UniProtKB)

TAS

GO:0035162

P40424 (UniProtKB)

IEA

GO:0043433

P40424 (UniProtKB)

IDA

GO:0045665

P40424 (UniProtKB)

IEA

GO:0045944

P40424 (UniProtKB)

IEA

GO:0046982

P40424 (UniProtKB)

IEA

GO:0048536

P40424 (UniProtKB)

IEA

GO:0048538

P40424 (UniProtKB)

IEA

GO:0048706

P40424 (UniProtKB)

IEA

microRNAs potentially regulating PBX1:

hsa-miR-124 hsa-miR-21 hsa-miR-149 hsa-miR-877*

String

BioGrid

IntAct

mentha

MINT

Loading…

Interacting Gene	Interaction	Source/Score

KEGG
Reactomepathway

Name
5202 Transcriptional misregulation in cancers [PATH:hsa05202]

Name
Developmental Biology
Transcriptional regulation of pluripotent stem cells

Disease

Score

NofPmids

NofSnps

Source

Disease	Score	NofPmids	NofSnps	Source
Burkitt Lymphoma	0.120542884	4	0	BeFree_CTD_human
Substance-Related Disorders	0.12	1	0	CTD_human
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3	0.12	0	0	ORPHANET
Precursor Cell Lymphoblastic Leukemia Lymphoma	0.016306375	41	0	BeFree_LHGDN
Acute lymphocytic leukemia	0.013843535	51	0	BeFree
Pituitary Diseases	0.010043349	37	0	BeFree
leukemia	0.008967513	23	0	BeFree_LHGDN
Adenoma	0.008957582	33	0	BeFree
Precursor B-cell lymphoblastic leukemia	0.006243163	23	0	BeFree
Diabetes Mellitus, Non-Insulin-Dependent	0.00554839	3	0	BeFree_GAD

PBX1 attenuates MeHg-induced apoptosis by reducing ROS accumulation, mitigating double-strand DNA breaks, and enhancing homologous recombination DNA repair in SH-SY5Y cells.

Zuo K, Chen Z, Lu R, Liu X, Liu J Ecotoxicol Environ Saf IF: 6.6 2026-02-00

The immunopathological crosstalk of diabetic periodontitis: Single-cell insights into monocyte dysregulation.

Si C, Wu X, Cheng H, Jiang W, Yan H PLoS One IF: 2.6 None

NTRK fusion in metastatic castration-resistant prostate cancer treated with entrectinib: a case report.

Tatarano S, Mitsuke A, Osako Y, Sakaguchi T, Inoguchi S, Matsushita R, Yoshino H, Yamada Y, Enokida H J Med Case Rep 2026-07-17

Mitochondrial SLC25A46 Rewires Fatty Acid Oxidation to Promote Cell Proliferation and Ferroptosis Evasion in Ovarian Cancer by Stabilizing CACT.

Gao Y, Hao J, Zhang X, Long M, Feng Y, Liu X, Li X, Liu S, Guo X, Lv X Adv Sci (Weinh) IF: 9.034 2026-07-20

Preclinical evaluation of the ROR1-targeting antibody-drug conjugates zilovertamab vedotin and VLS-211 against B-cell ALL patient-derived xenografts.

Smith CM, Watts B, Evans K, Kosasih H, Mayoh C, Erickson SW, Earley EJ, Neuhauser S, Stearns TM, Philip VM, Chuang JH, de Bock CE, Bowman EP, Jessen KA, Jocoy EL, Bult CJ, Teicher BA, Smith MA, Lock RB Hemasphere 2026-07-00

miRNA-mRNA Interaction Network Analysis in Alzheimer's Disease for Biomarker Discovery.

Ray A, Agarwal K, Jha S, Singh AM, Majumder S, Lodh E, Chowdhury T, Alzheimer’s Disease Neuroimaging Initiative J Mol Neurosci IF: 2.4 2026-08-05

The association study between MTOR and high myopia.

Wang X, Liu J, Gong Y, Yang C, Yang Y, Zou L, Shi Y, Qin X, Jiang L Adv Ophthalmol Pract Res None

PLAG1-rearranged uterine mesenchymal tumours: A study of 11 cases showing distinct histological features beyond myxoid morphology.

Cai M, Zuo K, Yu L, Cheng Y, Bi R, Ge H, Yang W, Tu X Histopathology IF: 3.8 2026-08-00

Cord Blood DNA Methylation and Large-for-Gestational-Age Birth: A Pilot Epigenome-Wide Study in the GROW Cohort.

Liang X, Doumith C, Misra DP, Misra VK Epigenomes 2026-08-04

Exploring the Impact of miR-10a, miR-141, miR-200a and miR-3658 on Cystinuria.

Ayres DC, Pimenta R, Dos Santos GA, Candido P, Antunes M, Dip Junior NG, Marchini GS, Torricelli FC, Vicentini FC, Danilovic A, Batagello CA, Leite KRM, Nahas WC, Reis ST, Mazzucchi E Biomedicines 2026-07-28

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PBX1 (PBX homeobox 1)

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Chromosome Location

Gene Summary

Gene Summary

Gene Sequence

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Encoded Protein

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Gene Variants

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