1. Gene
  2. PBX1 - PBX homeobox 1 Gene

PBX1 - PBX homeobox 1 Gene

中文名称:PBX 同源盒 1

种属: Homo sapiens

同用名: CAKUHED

基因 ID: 5087 | 基因类型: protein coding

关于 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.

功能概要

该基因编码属于 PBX 同源框转录因子家族的核蛋白。对小鼠的研究表明,该基因可能参与骨生成的调节,并且是骨骼模式化和编程所必需的。涉及该基因和 TCF3/E2A 基因的染色体易位 t (1;19) 与前 B 细胞急性淋巴细胞白血病相关。由此产生的融合蛋白,其中 E2A 的 DNA 结合域被该蛋白的 DNA 结合域取代,通过组成型激活受 PBX 蛋白家族调控的基因转录来转化细胞。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2017 年 6 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA binding IDA
IDA: 通过直接分析推断
10052460 GOA
enables DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
15684392 GOA
contributes to RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
9079637 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10052460 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
7791786 GOA
enables transcription cis-regulatory region binding IDA
IDA: 通过直接分析推断
9191052 GOA
enables transcription coregulator binding IPI
IPI: 通过物理相互作用推断
14701856 GOA
enables transcription corepressor binding IPI
IPI: 通过物理相互作用推断
10825160 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
15684392 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of RNA polymerase II transcription regulator complex IDA
IDA: 通过直接分析推断
9079637 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
18973687 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15684392 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PBX1 蛋白结构

PBC

PBC: PBC domain (38 - 232)

Homeobox

Homeobox: Homeobox domain (234 - 293)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 430 a.a.
蛋白主名 其他名称

pre-B-cell leukemia transcription factor 1

homeobox protein PBX1

PBX1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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