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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UBP1
upstream binding protein 1
Chromosome 3 · 3p22.3
NCBI Gene: 7342Ensembl: ENSG00000153560.13HGNC: HGNC:12507UniProt: A8KAN5
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingnegative regulation of viral transcriptionpositive regulation of transcription by RNA polymerase IInucleusSensorineural hearing impairmenthearing losscarpal tunnel syndromeParkinson disease
✦AI Summary

UBP1 (upstream binding protein 1) is a TFCP2/grainyhead family transcription factor that functions as a sequence-specific DNA-binding activator with context-dependent promoter activity 1. Primary functions include modulating placental CYP11A1 expression and regulating alpha-globin genes in erythroid cells through synergistic interaction with TFCP2, while also repressing HIV-1 transcription by inhibiting TFIID binding to the TATA-box 1. UBP1 plays a critical role in blood pressure regulation; variants in the UBP1 locus associate significantly with systolic and diastolic blood pressure, functioning through transcriptional activation of CYP11A, the rate-limiting enzyme in steroid and pregnenolone biosynthesis 2. In cancer biology, UBP1 promotes breast tumorigenesis through multiple mechanisms including epithelial-mesenchymal transition (EMT), cancer stem cell maintenance, and tumor-associated macrophage polarization via the NRG2/Akt signaling axis 3. Elevated UBP1 expression correlates with poor prognosis and reduced overall survival in breast cancer 3. UBP1 also mediates angiogenesis in endothelial cells through VEGF stimulation and functional interaction with TFCP2 4. Additionally, UBP1 participates in parasitic resistance mechanisms in malaria and trypanosomiasis 56, and recurrent EWSR1-UBP1 gene fusions have been identified in spindle cell rhabdomyosarcomas 7.

Sources cited
1
UBP1 is part of the TFCP2/TFCP2L1/UBP1 transcription factor subfamily involved in cancer development and epithelial-mesenchymal transition
PMID: 29410248
2
UBP1 locus variants associate with blood pressure determination; UBP1 regulates CYP11A transcription affecting steroid metabolism and pregnenolone/aldosterone biosynthesis
PMID: 19662162
3
UBP1 promotes breast cancer tumorigenesis through EMT induction, stemness maintenance, and macrophage polarization via NRG2/Akt axis; elevated UBP1 correlates with poor prognosis
PMID: 40064277
4
UBP1 mediates VEGF-stimulated angiogenesis in endothelial cells through functional interaction with TFCP2
PMID: 36889372
5
UBP1 is involved in artemisinin resistance mechanisms in malaria parasites through endocytosis pathways
PMID: 34309894
6
UBP1 point mutations occur in drug-resistant Trypanosoma brucei lines selected with melarsoprol and pentamidine
PMID: 26973180
7
EWSR1-UBP1 gene fusion is identified in spindle cell rhabdomyosarcomas representing a novel TFCP2-rearranged variant
PMID: 34877752
Disease Associationsⓘ20
Sensorineural hearing impairmentOpen Targets
0.30Weak
hearing lossOpen Targets
0.29Weak
carpal tunnel syndromeOpen Targets
0.26Weak
Parkinson diseaseOpen Targets
0.24Weak
Alzheimer diseaseOpen Targets
0.24Weak
lysosomal storage diseaseOpen Targets
0.24Weak
multiple sclerosisOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.24Weak
heart diseaseOpen Targets
0.18Weak
cervical carcinomaOpen Targets
0.12Weak
nerve plexus diseaseOpen Targets
0.11Weak
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.05Suggestive
pentosuriaOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.05Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
Familial isolated hypoparathyroidismOpen Targets
0.04Suggestive
placental retentionOpen Targets
0.04Suggestive
intestinal hypomagnesemia 1Open Targets
0.04Suggestive
Primary hypomagnesemia with secondary hypocalcemiaOpen Targets
0.04Suggestive
left ventricular noncompactionOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TLCD3BProtein interaction90%TFCP2Protein interaction84%SGPP1Protein interaction77%ANKRD29Protein interaction73%TRIM14Shared pathway33%HEXIM1Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
99%
Ovary
83%
Lung
81%
Liver
74%
Brain
61%
Gene Interaction Network
Click a node to explore
UBP1TLCD3BTFCP2SGPP1ANKRD29TRIM14HEXIM1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NZI7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.34 [0.24–0.49]
RankingsWhere UBP1 stands among ~20K protein-coding genes
  • #8,265of 20,598
    Most Researched55
  • #2,908of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedUBP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TFCP2/TFCP2L1/UBP1 transcription factors in cancer.
PMID: 29410248
Cancer Lett · 2018
1.00
2
Identification of the UBP1 locus as a critical blood pressure determinant using a combination of mouse and human genetics.
PMID: 19662162
PLoS Genet · 2009
0.90
3
Neglected Functions of TFCP2/TFCP2L1/UBP1 Transcription Factors May Offer Valuable Insights into Their Mechanisms of Action.
PMID: 30241344
Int J Mol Sci · 2018
0.80
4
Upstream-binding protein-1 promotes breast tumorigenesis by inducing NRG2-mediated metastasis, plasticity, and macrophage polarization.
PMID: 40064277
Int J Biol Macromol · 2025
0.70
5
Transcription factor cellular promoter 2 is required for upstream binding protein 1 -mediated angiogenesis.
PMID: 36889372
Gene Expr Patterns · 2023
0.60