PBX1 - PBX homeobox 1 Gene

Homo sapiens

Also known as CAKUHED

Gene ID: 5087 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in negative regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	15684392	GOA

Cellular Component GO Annotation	Evidence	Reference	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

Homeobox

0
100
200
300
400
430 a.a.

Protein Preferred Names

Protein Names

pre-B-cell leukemia transcription factor 1

homeobox protein PBX1

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153916	TCRS-417		95.95%	Unkown
HY-RS10106	PBX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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