PBX1 - PBX homeobox 1 Gene

Also Known as CAKUHED

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5087

About PBX1

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:164,559,184-164,886,047 (from NCBI)

This gene has 25 transcripts (splice variants), 152 orthologues, 12 paralogues and is associated with 84 phenotypes. Ubiquitous expression in endometrium (RPKM 55.3), gall bladder (RPKM 19.2) and 22 other tissues.

Summary

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]

PBX1 Products (5)

mRNA Protein Name
NM_001204961.2 NP_001191890.1 pre-B-cell leukemia transcription factor 1 isoform 2
NM_001204963.2 NP_001191892.1 pre-B-cell leukemia transcription factor 1 isoform 3
NM_001353130.1 NP_001340059.1 pre-B-cell leukemia transcription factor 1 isoform 4
NM_001353131.2 NP_001340060.1 pre-B-cell leukemia transcription factor 1 isoform 2
NM_002585.4 NP_002576.1 pre-B-cell leukemia transcription factor 1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables DNA binding IDA
IDA: Inferred from direct assay
10052460 GOA
enables DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
15684392 GOA
contributes to RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
9079637 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10052460 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
7791786 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
9191052 GOA
enables transcription coregulator binding IPI
IPI: Inferred from physical interaction
14701856 GOA
enables transcription corepressor binding IPI
IPI: Inferred from physical interaction
10825160 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
15684392 GOA
Cellular Component GO Annotation Evidence References Source
part of RNA polymerase II transcription regulator complex IDA
IDA: Inferred from direct assay
9079637 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
18973687 GOA
located in nucleus IDA
IDA: Inferred from direct assay
15684392 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PBX1 Protein Structure

PBC

PBC: PBC domain (38 - 232)

Homeobox

Homeobox: Homeobox domain (234 - 293)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 430 a.a.
Protein Preferred Names Protein Names

pre-B-cell leukemia transcription factor 1

  • homeobox protein PBX1

PBX1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PBX1 P40424 FOXC1 Homo sapiens Q12948
Anti Tag CoIP
15684392
Intra
PBX1 P40424 FOXC1 Homo sapiens Q12948
Anti Bait CoIP
15684392
Intra
PBX1 P40424 HOXC5 Homo sapiens Q00444
Validated Y2H
32296183
Intra
PBX1 P40424 PKNOX1 Homo sapiens P55347
Y2H Array
20211142
Intra
PBX1 P40424 PKNOX1 Homo sapiens P55347
Comigration in SDS
25856340
Intra
PBX1 P40424 PKNOX1 Homo sapiens P55347
GMS
25856340
Intra
PBX1 P40424 PKNOX1 Homo sapiens P55347
Ion Exchange Chrom
25856340
Intra
PBX1 P40424 PKNOX2 Homo sapiens Q96KN3
Y2H Array
20211142
Intra
PBX1 P40424 CDCA7L Homo sapiens Q96GN5
Validated Y2H
32296183
Intra
PBX1 P40424 BRMS1L Homo sapiens Q5PSV4
Validated Y2H
32296183
Intra
PBX1 P40424 FAM90A1 Homo sapiens Q86YD7
Validated Y2H
32296183
Intra
PBX1 P40424 PIN1 Homo sapiens Q13526
Validated Y2H
32296183
Intra
PBX1 P40424 EFHC1 Homo sapiens Q5JVL4
Validated Y2H
32296183
Intra
PBX1 P40424 MEIS2 Homo sapiens O14770-4
Anti Tag CoIP
20553494
Cross: Cross-species interaction Intra: Intraspecies interaction

PBX1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P87005 PBX1 Antibody (YA6698) WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay

  • CAKUTHED

  • Doid:0112359

  • Anomalies, Congenital, Kidney And Urinary Tract Syndrome With/Without Hearing Loss, Abnormal Ears, Or Developmental Delay
B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality
Renal Hypoplasia, Bilateral
Leukemia

  • Leukemias

  • Leukaemia, Unspecified, Without Mention Of Remission

  • Aleukemic Leukaemia

  • Chronic Leukaemia

  • Subacute Leukaemia

  • Leukaemia Disorder

  • Leukaemia Nos
Acute Leukemia

  • Stem Cell Leukaemia

  • Stem Cell Leukemia

  • Acute Leukemias

  • Acute Undifferentiated Leukemia

  • Undifferentiated Leukemia

  • Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

  • Blast Cell Leukaemia

  • Blast Leukaemia

  • Blastic Leukaemia

  • Undifferentiated Leukaemia
B-Lymphoblastic Leukemia/Lymphoma

  • B Lymphoblastic Leukemia/Lymphoma

  • B-All

  • Precursor B Lymphoblastic Lymphoma/Leukemia

  • C-All

  • Lymphoblastic Lymphoma, Nos

  • Common Precursor B All

  • Lymphoblastic B-Cell Lymphoma

  • Pro-B All

  • B-Precursor Lymphoma

  • Lbl - [Lymphoblastic Lymphoma]
B-Lymphoblastic Leukemia/Lymphoma With Hypodiploidy

  • B-All With Hypodiploidy

  • Hypodiploid All
B-Lymphoblastic Leukemia/Lymphoma With Hyperdiploidy

  • B-All With Hyperdiploidy

  • B Lymphoblastic Leukemia Lymphoma With Hyperdiploidy
Testicular Leukemia
B-Lymphoblastic Leukemia/Lymphoma Mll Rearranged

  • B-Lymphoblastic Leukemia/Lymphoma Kmt2a Rearranged

  • B Lymphoblastic Leukemia/Lymphoma With T

  • Mll Rearranged

  • B-All Kmt2a Rearranged

  • B-Lymphoblastic Leukemia/Lymphoma With T

  • Kmt2a Rearranged
Sarcomatoid Basal Cell Carcinoma

  • Skin Sarcomatoid Basal Cell Carcinoma
Hypothyroidism, Congenital, Nongoitrous, 4

  • Tsh Deficiency

  • CHNG4

  • Thyrotropin Deficiency, Isolated

  • Pituitary Cretinism

  • Congenital Nongoitrous Hypothyroidism 4

  • Isolated Thyrotropin Deficiency

  • Thyroid-Stimulating Hormone Deficiency

  • Hypothyroidism, Congenital, Nongoitrous 4

  • Thyroid-Stimulating Hormone, Deficiency Of

  • Isolated Thyroid-Stimulating Hormone Deficiency

  • Isolated Tsh Deficiency

  • Hypothyroidism, Congenital, Nongoitrous, Type 4

  • Secondary Hypothyroidism

  • Tsh - [Thyroid Stimulating Hormone] Deficiency
Parachordoma
Retinitis Pigmentosa 90

  • RP90

  • Retinitis Pigmentosa, Type 90
Disorder Of Sexual Development

  • Disorder Of Sex Development

  • Disorders Of Sex Development

  • Sex Development Disorder

  • Sex Differentiation Disease

  • Dsd

  • Sex Differentiation Disorders
Central Nervous System Leukemia

  • Leukemia Of The Cns
Childhood Leukemia
Leukemia, Acute Lymphoblastic

  • Acute Lymphoblastic Leukemia

  • ALL

  • Acute Lymphocytic Leukemia

  • Leukemia, Acute Lymphocytic, Susceptibility To, 1

  • Acute Lymphoblastic Leukaemia

  • Precursor Lymphoblastic Lymphoma/Leukemia

  • Precursor Lymphoid Neoplasm

  • Leukemia, Acute Lymphoblastic, Susceptibility To

  • B-Cell Acute Lymphoblastic Leukemia

  • Leukemia, Acute Lymphocytic 1

  • Acute Lymphocytic Leukaemia

  • Acute Lymphoblastic Leukemia/Lymphoma

  • All1

  • Childhood Acute Lymphoblastic Leukemia

  • Leukemia Acute Lymphoblastic 1

  • Leukemia Acute Lymphoblastic B-Hyperdiploid

  • Leukemia Acute Lymphocytic

  • Leukemia Acute Lymphocytic 1

  • Leukemia B-Cell Acute Lymphoblastic

  • Leukemia T-Cell Acute Lymphoblastic

  • Leukemia, Acute Lymphoblastic, 3

  • ALL3

  • Lymphoblastic Leukemia Acute

  • Leukemia, Acute, Lymphoblastic

  • Precursor Cell Lymphoblastic Leukemia Lymphoma

  • Leukemia, Lymphocytic, Acute, L1

  • Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Cleft Palate, Cardiac Defects, And Mental Retardation

  • Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies

  • CPCMR

  • Cleft Palate, Cardiac Defects, And Intellectual Disabillity

  • Cleft Palate, Cardiac Defects, And Intellectual Disability

  • Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies
B-Lymphoblastic Leukemia/Lymphoma With Iamp21

  • B-All With Iamp21

  • Intrachromosomal Amplification Of Chromosome 21
B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1

  • B-All With Bcr-Abl1

  • B-Lymphoblastic Leukemia/Lymphoma With T(9

  • 22)(Q34.1

  • Q11.2)

  • Bcr-Abl1

  • B Lymphoblastic Leukemia/Lymphoma With T(9

  • 22)(Q34.1

  • Q11.2)

  • Bcr-Abl1
Intellectual Developmental Disorder, Autosomal Dominant 29

  • MRD29

  • Autosomal Dominant Non-Syndromic Intellectual Disability 29

  • Mental Retardation, Autosomal Dominant 29

  • Autosomal Dominant Intellectual Developmental Disorder 29

  • Autosomal Dominant Mental Retardation 29

  • Mental Retardation, Autosomal Dominant, Type 29
Adult Acute Lymphocytic Leukemia

  • Adult Acute Lymphoid Leukemia

  • Adult All
Myoepithelial Carcinoma

  • Malignant Myoepithelioma

  • Myoepithelioma Carcinoma
B-Cell Adult Acute Lymphocytic Leukemia

  • Adult B Acute Lymphoblastic Leukemia

  • Adult B Acute Lymphoblastic Leukaemia

  • Adult B-Cell Acute Lymphoblastic Leukaemia

  • Adult B-Cell Acute Lymphoblastic Leukemia

  • Adult B-Cell Lymphocytic Leukaemia

  • Adult B-Cell Lymphocytic Leukemia

  • Adult B-Lymphoblastic Leukaemia

  • Adult B-Lymphoblastic Leukemia

  • B-Cell Adult Acute Lymphocytic Leukaemia

  • B-Cell Adult Acute Lymphoblastic Leukemia
Cystinuria

  • CSNU

  • Cystinuria Type B

  • Cystinuria Type A

  • Cystinuria, Type I, Formerly

  • Csnu1, Formerly

  • Cystinuria, Type Ii, Formerly

  • Cystinuria, Type Iii, Formerly

  • Csnu3, Formerly

  • Cystinuria, Type Non-I, Formerly

  • Cystinuria-Lysinuria

  • Cystinuria-Lysinuria Syndrome

  • Csnu1

  • Csnu3

  • Cystinuria 1

  • Cystinuria Type A/B

  • Cystinuria Type I

  • Cystinuria Type Ii

  • Cystinuria Type Iii

  • Cystinuria Type Non-I

  • Cystinuria, Type A/B

  • Cystinuria Type 1

  • Cystinuria - Lysinuria

  • Csnu - [Cystinuria]

  • Cystine Disease
Sweat Gland Benign Neoplasm

  • Neoplasm Of Sweat Gland

  • Sweat Gland Tumor

  • Tumor Of The Sweat Gland

  • Sweat Gland Neoplasms

  • Sweat Gland Neoplasm
Chondrosarcoma, Extraskeletal Myxoid

  • Extraskeletal Myxoid Chondrosarcoma

  • Emc

  • Myxoid Extraosseous Chondrosarcoma
46,Xy Sex Reversal

  • Swyer Syndrome

  • Pure Gonadal Dysgenesis 46,Xy

  • Gonadal Dysgenesis, Xy Female Type

  • Gonadal Dysgenesis, 46,Xy

  • 46,Xy Cgd

  • 46,Xy Complete Gonadal Dysgenesis

  • 46,Xy Pure Gonadal Dysgenesis

  • 46 Xy Gonadal Dysgenesis

  • 46, Xy Cgd

  • 46, Xy Complete Gonadal Dysgenesis

  • 46, Xy Pure Gonadal Dysgenesis

  • Xy Pure Gonadal Dysgenesis

  • Female With 46,Xy Karyotype

  • Xy Females
Cakut

  • Renal Or Urinary Tract Malformation

  • Congenital Anomalies Of Kidney And Urinary Tract

  • Congenital Anomaly Of Kidney And Urinary Tract

  • Congenital Anomalies Of The Kidney And Urinary Tract

  • Kidney And Urinary Tract, Anomalies, Congenital

  • Renal Hypodysplasia, Nonsyndromic, 1
Diaphragmatic Hernia, Congenital

  • Congenital Diaphragmatic Hernia

  • Diaphragmatic Hernia

  • Cdh

  • Congenital Diaphragmatic Defect

  • Hernia, Diaphragmatic

  • Dih

  • Hernia, Congenital Diaphragmatic

  • Hcd

  • Diaphragmatic Defect, Congenital

  • Diaphragm, Unilateral Agenesis Of

  • Hemidiaphragm, Agenesis Of

  • Diaphragmatic Hernia 1

  • Agenesis Of Hemidiaphragm

  • Unilateral Agenesis Of Diaphragm

  • Hernia Diaphragmatic

  • Hernia Diaphragmatic Congenital

  • Hernia, Diaphragmatic, Type 1

  • Hiatus Hernia

  • Oesophageal Hiatus Hernia

  • Paraoesophageal Hernia

  • Sliding Hiatus Hernia

  • Congenital Diaphragm Hernia

  • Congenital Diaphragm Defect With Hernia

  • Gross Congenital Diaphragm Defect
Cleft Palate, Isolated

  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate
Type 2 Diabetes Mellitus

  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes
Leukemia, Acute Myeloid

  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-153916 TCRS-417 99.13% Unkown
HY-134258 MEISi-1 Inhibitor 98.16% Unkown
HY-RS10106 PBX1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20320 Pbx1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26828 Pbx1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus PBX1 MGD MGI:97495
Felis catus PBX1 VGNC VGNC:68706
Macaca mulatta PBX1 VGNC VGNC:75770
Bos taurus PBX1 VGNC VGNC:32607
Rattus norvegicus PBX1 RGD RGD:1308213
Canis familiaris PBX1 VGNC VGNC:44286
Others PBX1 NCBI