USF1
Upstream stimulatory factor 1
Also known as: bHLHb11, MLTFI, UEF, USF1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P22415
- Gene
- USF1
- Ensembl
- ENSG00000158773
- Chromosome
- 1
- Canonical length
- 310 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013]
Canonical amino-acid sequenceUniProt
310 residues, UniProt reviewed canonical sequence.
>P22415|USF1
1 MKGQQKTAET EEGTVQIQEG AVATGEDPTS VAIASIQSAA TFPDPNVKYV FRTENGGQVM
61 YRVIQVSEGQ LDGQTEGTGA ISGYPATQSM TQAVIQGAFT SDDAVDTEGT AAETHYTYFP
121 STAVGDGAGG TTSGSTAAVV TTQGSEALLG QATPPGTGQF FVMMSPQEVL QGGSQRSIAP
181 RTHPYSPKSE APRTTRDEKR RAQHNEVERR RRDKINNWIV QLSKIIPDCS MESTKSGQSK
241 GGILSKACDY IQELRQSNHR LSEELQGLDQ LQLDNDVLRQ QVEDLKNKNL LLRAQLRHHG
301 LEVVIKNDSNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against USF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.61
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- thymus: 34 nTPM
- tonsil: 31 nTPM
- spleen: 29 nTPM
- skeletal muscle: 29 nTPM
- tongue: 28 nTPM
- lymph node: 26 nTPM
Single-cell type
- b-cells: 28 nCPM
- neutrophils: 27 nCPM
- plasma cells: 27 nCPM
- monocyte progenitors: 24 nCPM
- cdc: 20 nCPM
- microglia: 19 nCPM
Immune cell
- neutrophil: 4.2 nTPM
- plasmacytoid DC: 2.7 nTPM
- classical monocyte: 2.6 nTPM
- myeloid DC: 2.6 nTPM
- basophil: 2.5 nTPM
- intermediate monocyte: 2.1 nTPM
Brain region
- hypothalamus: 29 nTPM
- cerebral cortex: 27 nTPM
- thalamus: 26 nTPM
- white matter: 26 nTPM
- pons: 26 nTPM
- spinal cord: 25 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about USF1.
Disease | AllUniProt
Conditions USF1 is implicated in, by any mechanism.
- Hyperlipidemia, familial combined, 1 (FCHL1) MIM:602491
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.59
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 2.14
- DepMap mean gene effect
- -0.17
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to glucose stimulus
- cellular response to insulin stimulus
- glucose homeostasis
- glucose mediated signaling pathway
- glucose metabolic process
- late viral transcription
- lipid homeostasis
- negative regulation of fibrinolysis
- positive regulation of transcription by RNA polymerase II
- positive regulation of transcription from RNA polymerase II promoter by glucose
- regulation of transcription by RNA polymerase II
- response to hypoxia
- response to UV
- carbon catabolite regulation of transcription
Molecular functions
- bHLH transcription factor binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- E-box binding
- enzyme binding
- histone deacetylase binding
- identical protein binding
- protein heterodimerization activity
- protein homodimerization activity
- protein kinase binding
- protein-containing complex binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of USF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads USF1 as an antibody target. Whether an autoantibody or antibody against USF1 could matter depends on whether native USF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
USF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label USF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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