Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5087
Gene name Gene Name - the full gene name approved by the HGNC.
PBX homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PBX1
Synonyms (NCBI Gene) Gene synonyms aliases
CAKUHED
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.3
Summary Summary 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
SNPs SNP 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022992 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT030981 hsa-miR-21-5p Microarray 18591254
MIRT045499 hsa-miR-149-5p CLASH 23622248
MIRT037024 hsa-miR-877-3p CLASH 23622248
MIRT438691 hsa-miR-198 qRT-PCR, Western blot 23989979
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176310 8632 ENSG00000185630
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
Tissue specificity TISSUE SPECIFICITY: Expressed in the kidney. Expressed in the endothelial cells of the glomeruli and interstitium (at protein level) (PubMed:28270404). Expressed in all tissues except in cells of the B and T lineage. Expressed strongly in kidney and brain
Sequence
MDEQPRLMHSHAGVGMAGHPGLSQHLQDGAGGTEGEGGRKQDIGDILQQIMTITDQSLDE
AQARKHALNCHRMKPALFNVLCEIKEKTVLSIRGAQEEEPTDPQLMRLDNMLLAEGVAGP
EKGGGSAAAAAAAAASGGAGSDNSVEHSDYRAKLSQIRQIYHTELEKYEQACNEFTTHVM
NLLREQSRTRPISPKEIERMVSIIHRKFSSIQMQLKQSTCEAVMILRSRFLD
ARRKRRNF
NKQATEILNEYFYSHLSNPYPSEEAKEELAKKCGITVSQVSNWFGNKRIRYKK
NIGKFQE
EANIYAAKTAVTATNVSAHGSQANSPSTPNSAGSSSSFNMSNSGDLFMSVQSLNGDSYQG
AQVGANVQSQVDTLRHVISQTGGYSDGLAASQMYSPQGISANGGWQDATTPSSVTSPTEG
PGSVHSDTSN
Sequence length 430
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Efferocytosis
Cortisol synthesis and secretion
Cushing syndrome
Transcriptional misregulation in cancer
  Transcriptional regulation of pluripotent stem cells
NOTCH3 Intracellular Domain Regulates Transcription
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Burkitt`s lymphoma Burkitt Lymphoma, Burkitt Leukemia rs28933407, rs121918683, rs121918684 17244677, 1967982
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, rs775394591
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Renal dysplasia Renal Cell Dysplasia, Renal dysplasia ClinVar
Renal hypoplasia Congenital hypoplasia of kidney, Renal hypoplasia, bilateral ClinVar
Breast cancer Breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
46 XX Testicular Disorders of Sex Development Associate 18984668, 32141698
Adenocarcinoma in Situ Associate 23688269
Adrenal Gland Neoplasms Associate 18984668
Adrenal Hyperplasia Congenital Associate 18984668
Arthritis Rheumatoid Associate 24947929
Atrial Fibrillation Associate 24805109, 34827661
Breast Neoplasms Associate 19356220, 22125492, 26215677, 26704972, 39794693
Cakut Associate 28566479, 30910156, 32141698
Calcinosis Cutis Stimulate 26215677
Capillary Malformation Arteriovenous Malformation Associate 31302614