Gene Gene information from NCBI Gene database.
Entrez ID 7391
Gene name Upstream transcription factor 1
Gene symbol USF1
Synonyms (NCBI Gene)
FCHLFCHL1HYPLIP1MLTFMLTFIUEFbHLHb11
Chromosome 1
Chromosome location 1q23.3
Summary 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 gen
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs2073658 C>T Risk-factor Intron variant
miRNA miRNA information provided by mirtarbase database.
98
miRTarBase ID miRNA Experiments Reference
MIRT045419 hsa-miR-149-5p CLASH 23622248
MIRT040599 hsa-miR-92b-3p CLASH 23622248
MIRT038834 hsa-miR-93-3p CLASH 23622248
MIRT1477105 hsa-miR-1285 CLIP-seq
MIRT1477106 hsa-miR-3187-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
60
GO ID Ontology Definition Evidence Reference
GO:0000430 Process Regulation of transcription from RNA polymerase II promoter by glucose IC 8576131
GO:0000430 Process Regulation of transcription from RNA polymerase II promoter by glucose IEA
GO:0000432 Process Positive regulation of transcription from RNA polymerase II promoter by glucose IEA
GO:0000432 Process Positive regulation of transcription from RNA polymerase II promoter by glucose ISS
GO:0000785 Component Chromatin IDA 27141965
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191523 12593 ENSG00000158773
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22415
Protein name Upstream stimulatory factor 1 (Class B basic helix-loop-helix protein 11) (bHLHb11) (Major late transcription factor 1)
Protein function Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters.
PDB 1AN4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 200 255 Helix-loop-helix DNA-binding domain Domain
Sequence
MKGQQKTAETEEGTVQIQEGAVATGEDPTSVAIASIQSAATFPDPNVKYVFRTENGGQVM
YRVIQVSEGQLDGQTEGTGAISGYPATQSMTQAVIQGAFTSDDAVDTEGTAAETHYTYFP
STAVGDGAGGTTSGSTAAVVTTQGSEALLGQATPPGTGQFFVMMSPQEVLQGGSQRSIAP
RTHPYSPKSEAPRTTRDEKRRAQHNEVERRRRDKINNWIVQLSKIIPDCSMESTKSGQSK
GGILSKACDYIQELR
QSNHRLSEELQGLDQLQLDNDVLRQQVEDLKNKNLLLRAQLRHHG
LEVVIKNDSN
Sequence length 310
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Estrogen-dependent gene expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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
CARDIOVASCULAR DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA, COMBINED, 1 ClinVar, Disgenet, GenCC
ClinVar, Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA, FAMILIAL COMBINED CTD, Disgenet
CTD, 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
Adenocarcinoma Adenocarcinoma BEFREE 15864740
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 11241666
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 22390463 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 15175273, 17885212, 18276913, 19910639, 24722012, 26068452, 26819196, 30545366
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 31670516
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 15175273, 17885212, 18276913, 19910639, 24722012, 26068452, 26819196, 30545366
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis LHGDN 17885212, 18276913
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 18276913, 19910639, 24722012, 26068452 Associate
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 25374392 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 22390463 Associate
★☆☆☆☆
Found in Text Mining only