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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism spectrum disorder Pathogenic rs1553248081 RCV003126773
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (32 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial pancreatic carcinoma Pathogenic rs1553248075 RCV005900918
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PBX1-related disorder Likely pathogenic; Pathogenic rs2102345680, rs1259895025, rs2525298952 RCV003395634
RCV003410266
RCV003412356
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 10454582, 15507449, 29694893, 8093327
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10037003, 11071360, 12415113, 12473597, 12580965, 1348433, 14559953, 15182431, 1520867, 15543624, 15630450, 15744350, 15801954, 15878620, 16160012
View all (52 more)
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 16862184
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Diseases Adrenal Gland Diseases BEFREE 18984668
★☆☆☆☆
Found in Text Mining only
Adrenal Hyperplasia Congenital Congenital adrenal hyperplasia Pubtator 18984668 Associate
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 11071360, 1348433, 14559953, 15543624, 15630450, 15744350, 15878620, 16160012, 16396770, 17039234, 17339183, 18455790, 19922767, 20930648, 22705992
View all (15 more)
★☆☆☆☆
Found in Text Mining only
African Burkitt`s lymphoma African Burkitt`s Lymphoma CTD_human_DG 17244677, 1967982
★☆☆☆☆
Found in Text Mining only
Ambiguous Genitalia Ambiguous Genitalia HPO_DG
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 23688269
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 27621227
★☆☆☆☆
Found in Text Mining only