Gene Gene information from NCBI Gene database.
Entrez ID 5087
Gene name PBX homeobox 1
Gene symbol PBX1
Synonyms (NCBI Gene)
CAKUHED
Chromosome 1
Chromosome location 1q23.3
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 chromo
SNPs SNP information provided by dbSNP.
16
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.
1496
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-PCRWestern blot 23989979
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
NR0B1 Activation 18984668
NR5A1 Activation 18984668
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
62
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IEA
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 9191052
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 9079637
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176310 8632 ENSG00000185630
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
70
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Pathogenic rs1553248081 RCV003126773
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Likely pathogenic; Pathogenic rs2102336635, rs544057798, rs2102302170, rs2101688490, rs2101678386, rs2102345684, rs2102319647, rs2102319548, rs2102302158, rs1423937629, rs2526809677, rs2526855476, rs1259895025, rs2526809998, rs2526810620
View all (20 more)
RCV001376046
RCV005414335
RCV001788497
RCV001536010
RCV001650478
RCV005412272
RCV001782569
RCV001825313
RCV002250173
RCV002283772
RCV002291483
RCV002292200
RCV002463405
RCV004017970
RCV003148188
RCV003226146
RCV003991054
RCV003333633
RCV004555232
RCV004556916
RCV000504557
RCV000504555
RCV000504556
RCV000578425
RCV000626307
RCV000626308
RCV000626309
RCV000626310
RCV000677637
RCV000735243
RCV000824977
RCV000995595
RCV001029777
RCV001029963
RCV001264740
RCV001251145
RCV001280817
Familial pancreatic carcinoma Pathogenic rs1553248075 RCV005900918
PBX1-related disorder Likely pathogenic; Pathogenic rs2102345680, rs1259895025, rs2525298952 RCV003395634
RCV003410266
RCV003412356
Associations from Text MiningDisease associations identified through Pubtator
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