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USF1 upstream transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 7391, updated on 12-May-2019

Summary

Official Symbol
USF1provided by HGNC
Official Full Name
upstream transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:12593
See related
Ensembl:ENSG00000158773 MIM:191523
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UEF; FCHL; MLTF; FCHL1; MLTFI; HYPLIP1; bHLHb11
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 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]
Expression
Ubiquitous expression in spleen (RPKM 29.9), lymph node (RPKM 25.8) and 25 other tissues See more
Orthologs

Genomic context

See USF1 in Genome Data Viewer
Location:
1q23.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (161039251..161045979, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161009041..161015769, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene F11 receptor Neighboring gene thiosulfate sulfurtransferase like domain containing 1 Neighboring gene Rho GTPase activating protein 30 Neighboring gene nectin cell adhesion molecule 4 Neighboring gene uncharacterized LOC105371471

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hyperlipidemia, combined, 1
MedGen: C1865289 OMIM: 602491 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Asp asp Analysis of point mutations in the USF1 and NF-kappaB sites in the cis-acting elements of ASP promoter region shows that USF1 and NF-kappaB are required for ASP activity PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone deacetylase binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity TAS
Traceable Author Statement
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
upstream stimulatory factor 1
Names
class B basic helix-loop-helix protein 11
major late transcription factor 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011612.1 RefSeqGene

    Range
    4989..11717
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276373.1NP_001263302.1  upstream stimulatory factor 1 isoform 1

    See identical proteins and their annotated locations for NP_001263302.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode isoform 1.
    Source sequence(s)
    AL591806, AL832119, X55666
    Consensus CDS
    CCDS1214.1
    UniProtKB/Swiss-Prot
    P22415
    UniProtKB/TrEMBL
    A0A0S2Z4U5
    Related
    ENSP00000356999.1, ENST00000368020.5
    Conserved Domains (1) summary
    cd00083
    Location:197259
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  2. NM_007122.5NP_009053.1  upstream stimulatory factor 1 isoform 1

    See identical proteins and their annotated locations for NP_009053.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 3 encode isoform 1.
    Source sequence(s)
    AL591806, AL832119, BP280296
    Consensus CDS
    CCDS1214.1
    UniProtKB/Swiss-Prot
    P22415
    UniProtKB/TrEMBL
    A0A0S2Z4U5
    Related
    ENSP00000357000.3, ENST00000368021.7
    Conserved Domains (1) summary
    cd00083
    Location:197259
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  3. NM_207005.2NP_996888.1  upstream stimulatory factor 1 isoform 2

    See identical proteins and their annotated locations for NP_996888.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as USF1/BD) uses an alternate splice site in its 5' UTR, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AB098540, AL591806, AL832119, BP280296
    UniProtKB/Swiss-Prot
    P22415
    Conserved Domains (1) summary
    pfam00010
    Location:141196
    HLH; Helix-loop-helix DNA-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    161039251..161045979 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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