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PBX1 (PBX homeobox 1)

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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
MDEQPRLMHSHAGVGMAGHPGLSQHLQDGAGGTEGEGGRKQDIGDILQQIMTITDQSLDE
AQARKHALNCHRMKPALFNVLCEIKEKTVLSIRGAQEEEPTDPQLMRLDNMLLAEGVAGP
EKGGGSAAAAAAAAASGGAGSDNSVEHSDYRAKLSQIRQIYHTELEKYEQACNEFTTHVM
NLLREQSRTRPISPKEIERMVSIIHRKFSSIQMQLKQSTCEAVMILRSRFLD
ARRKRRNF
NKQATEILNEYFYSHLSNPYPSEEAKEELAKKCGITVSQVSNWFGNKRIRYKK
NIGKFQE
EANIYAAKTAVTATNVSAHGSQANSPSTPNSAGSSSSFNMSNSGDLFMSVQSLNGDSYQG
AQVGANVQSQVDTLRHVISQTGGYSDGLAASQMYSPQGISANGGWQDATTPSSVTSPTEG
PGSVHSDTSN
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.
 
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
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
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

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