Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5087 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
PBX homeobox 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PBX1 |
SynonymsGene synonyms aliases
|
CAKUHED |
ChromosomeChromosome number
|
1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q23.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 chromo |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs866426234 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
rs1553247020 |
GGGCAGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1553247028 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1553248075 |
A>G |
Pathogenic |
Splice acceptor variant |
rs1553248081 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1553248110 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
rs1553248112 |
G>A,C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs1553249136 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1553249146 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1558020021 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1571217834 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
rs1571416477 |
->GG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1571416623 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1571431063 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1571431145 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1571445295 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
NR0B1 |
Activation |
18984668 |
NR5A1 |
Activation |
18984668 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000785 |
Component |
Chromatin |
ISA |
|
GO:0000977 |
Function |
RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IDA |
9079637 |
GO:0000978 |
Function |
RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IBA |
21873635 |
GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
IBA |
21873635 |
GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ISA |
|
GO:0001228 |
Function |
DNA-binding transcription activator activity, RNA polymerase II-specific |
IEA |
|
GO:0001654 |
Process |
Eye development |
IBA |
21873635 |
GO:0001658 |
Process |
Branching involved in ureteric bud morphogenesis |
IEA |
|
GO:0003677 |
Function |
DNA binding |
IDA |
10052460, 12412021 |
GO:0003700 |
Function |
DNA-binding transcription factor activity |
NAS |
10500199 |
GO:0005515 |
Function |
Protein binding |
IPI |
10052460, 14701856, 15684392, 20553494, 25609649, 25856340, 31839203, 32296183 |
GO:0005634 |
Component |
Nucleus |
IDA |
18973687, 28270404 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IDA |
18973687 |
GO:0006357 |
Process |
Regulation of transcription by RNA polymerase II |
IBA |
21873635 |
GO:0006694 |
Process |
Steroid biosynthetic process |
IEA |
|
GO:0007221 |
Process |
Positive regulation of transcription of Notch receptor target |
TAS |
|
GO:0007420 |
Process |
Brain development |
IBA |
21873635 |
GO:0007548 |
Process |
Sex differentiation |
IEA |
|
GO:0008284 |
Process |
Positive regulation of cell population proliferation |
IEA |
|
GO:0009887 |
Process |
Animal organ morphogenesis |
IBA |
21873635 |
GO:0009952 |
Process |
Anterior/posterior pattern specification |
IEA |
|
GO:0009954 |
Process |
Proximal/distal pattern formation |
IEA |
|
GO:0010971 |
Process |
Positive regulation of G2/M transition of mitotic cell cycle |
IEA |
|
GO:0030278 |
Process |
Regulation of ossification |
IEA |
|
GO:0030325 |
Process |
Adrenal gland development |
IEA |
|
GO:0030326 |
Process |
Embryonic limb morphogenesis |
IEA |
|
GO:0035019 |
Process |
Somatic stem cell population maintenance |
TAS |
|
GO:0035162 |
Process |
Embryonic hemopoiesis |
IEA |
|
GO:0045665 |
Process |
Negative regulation of neuron differentiation |
IEA |
|
GO:0048536 |
Process |
Spleen development |
IEA |
|
GO:0048538 |
Process |
Thymus development |
IEA |
|
GO:0048568 |
Process |
Embryonic organ development |
IBA |
21873635 |
GO:0048666 |
Process |
Neuron development |
IBA |
21873635 |
GO:0048706 |
Process |
Embryonic skeletal system development |
IEA |
|
GO:0090575 |
Component |
RNA polymerase II transcription regulator complex |
IDA |
9079637 |
GO:1990837 |
Function |
Sequence-specific double-stranded DNA binding |
IDA |
28473536 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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|
Protein
|
UniProt ID |
P40424 |
Protein name |
Pre-B-cell leukemia transcription factor 1 (Homeobox protein PBX1) (Homeobox protein PRL) |
Protein function |
Transcription factor which binds the DNA sequence 5'-TGATTGAT-3' as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8 (PubMed:9191052). Binds to the DNA sequence 5'-TGATTGAC-3' in complex with a nuclear factor which i |
PDB |
1B72
,
1PUF
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03792 |
PBC |
40 → 232 |
PBC domain |
Family |
PF00046 |
Homeodomain |
234 → 293 |
Homeodomain |
Domain |
|
Sequence |
|
Sequence length |
430 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Burkitt`s lymphoma |
Burkitt Lymphoma, Burkitt Leukemia |
rs28933407, rs121918683, rs121918684 |
17244677, 1967982, 1967982, 17244677 |
Congenital anomalies of kidney and urinary tract |
Cakut |
rs267606865, rs121908436, rs281875326, rs879255515, rs75462234, rs869320679, rs760905589, rs797045022, rs869320624, rs745597204, rs1114167358, rs1555879360, rs1577330805, rs1008555507 |
28270404, 28566479 |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY |
rs1553247028, rs1553248081, rs1553248075, rs1553247020, rs1553248110, rs1553248112, rs1553249136, rs1553249146, rs1558020021, rs1571217834, rs1571431145, rs1571431063, rs1571445295, rs773334722 |
28270404 |
Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591 |
|
Cryptorchidism |
Cryptorchidism |
rs121912555, rs104894697, rs104894698, rs398122886 |
|
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
27903959 |
Lymphoblastic leukemia |
Precursor B-cell lymphoblastic leukemia, Precursor B-cell acute lymphoblastic leukemia |
rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 |
|
Renal dysplasia |
Renal Cell Dysplasia, Renal dysplasia |
rs387907123 |
|
Renal insufficiency |
Renal Insufficiency |
rs1596536873 |
|
Vesicoureteral reflux |
Vesico-Ureteral Reflux |
rs587777684, rs148731211 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
African burkitt`s lymphoma |
African Burkitt`s lymphoma |
|
17244677, 1967982 |
Ambiguous genitalia |
Ambiguous Genitalia |
rs782562963 |
|
Bilateral renal hypoplasia |
Bilateral renal hypoplasia |
|
28270404 |
Congenital epicanthus |
Congenital Epicanthus |
|
|
Ectopic kidney |
Ectopic kidney |
|
|
Horseshoe kidney |
Horseshoe Kidney |
|
|
Microtia |
Congenital small ears |
|
|
Motor delay |
Clumsiness - motor delay |
|
|
Penis agenesis |
Penis agenesis |
|
|
Renal agenesis |
Congenital absence of kidneys syndrome |
|
|
Renal hypoplasia |
Congenital hypoplasia of kidney, Renal hypoplasia, bilateral |
rs561111097 |
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Strabismus |
Strabismus |
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