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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

USF1 Gene

protein-coding   GIFtS: 58
GCID: GC01M161009

Upstream Transcription Factor 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Upstream Transcription Factor 11 2     MLTF2
Class B Basic Helix-Loop-Helix Protein 112 3     MLTFI2
Major Late Transcription Factor 12 3     UEF2
bHLHb112 3     Upstream Stimulatory Factor 12
HYPLIP12 5     BHLHB113
FCHL2     USF3
FCHL12     

External Ids:    HGNC: 125931   Entrez Gene: 73912   Ensembl: ENSG000001587737   OMIM: 1915235   UniProtKB: P224153   

Export aliases for USF1 gene to outside databases

Previous GC identifers: GC01M158720 GC01M156741 GC01M157786 GC01M158225 GC01M158208 GC01M157822 GC01M159275 GC01M132366


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for USF1 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)

GeneCards Summary for USF1 Gene: 
USF1 (upstream transcription factor 1) is a protein-coding gene. Diseases associated with USF1 include familial combined hyperlipidemia, and familial hyperlipidemia. GO annotations related to this gene include protein heterodimerization activity and protein homodimerization activity. An important paralog of this gene is USF2.

UniProtKB/Swiss-Prot: USF1_HUMAN, P22415
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

Gene Wiki entry for USF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the USF1 gene promoter:
         AP-1   ATF-2   c-Jun   ATF   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for USF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat USF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q22-q23   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q22-q23

USF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USF1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M161009:  view genomic region     (about GC identifiers)

Start:
161,009,041 bp from pter      End:
161,015,767 bp from pter
Size:
6,727 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: USF1_HUMAN, P22415 (See protein sequence)
Recommended Name: Upstream stimulatory factor 1  
Size: 310 amino acids; 33538 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a homodimer or a
heterodimer (USF1/USF2). Interacts with varicella-zoster virus IE62 protein
Subcellular location: Nucleus
1 PDB 3D structure from and Proteopedia for USF1:
1AN4 (3D)    
Secondary accessions: B2RBZ4 Q5SY46

Explore the universe of human proteins at neXtProt for USF1: NX_P22415

Explore proteomics data for USF1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P22415

  • USF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    USF1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001263302.1  NP_009053.1  NP_996888.1  

    ENSEMBL proteins: 
     ENSP00000356999   ENSP00000357000   ENSP00000356998   ENSP00000435671   ENSP00000433041  
     ENSP00000435005   ENSP00000432533   ENSP00000390109  

    Human Recombinant Protein Products for USF1: 
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    Novus Biologicals USF1 Proteins
    Novus Biologicals USF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for USF1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IDA19303849

    USF1 for ontologies           About GeneDecksing



    USF1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for USF1 

    Assay Products for USF1: 
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    Cloud-Clone Corp. ELISAs for USF1 
    Cloud-Clone Corp. CLIAs for USF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry P22415

    ProtoNet protein and cluster: P22415

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: USF1_HUMAN, P22415
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    USF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: USF1_HUMAN, P22415
    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

         Genatlas biochemistry entry for USF1:
    upstream stimulatory transcription factor,ubiquitous (43 kDa),binding the AP-1/AP-4 site on the APP promoter

         Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003690double-stranded DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IMP18234320
    GO:0005515protein binding IPI19303849
         
    USF1 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Usf1):
     behavior/neurological  mortality/aging  nervous system  normal 

    USF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for USF1: Usf1tm1Svl Usf1tm1Msw

       inGenious Targeting Laboratory - Custom generated mouse model solutions for USF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for USF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USF1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for USF1 

    10/742 SABiosciences Target genes for USF1 (see all 742):
    AACS ABCB11 ABCB8 ABHD10 ABI1 ACER2 ACOT11 ACSL4 ACTG2 ACTL6B

    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate USF1 (see all 16):
    hsa-miR-148b hsa-miR-449a hsa-miR-1252 hsa-miR-4273 hsa-miR-148a hsa-miR-34c-5p hsa-miR-4271 hsa-miR-449b
    SwitchGear 3'UTR luciferase reporter plasmidUSF1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for USF1
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    Gene Editing
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    Sino Biological Human cDNA Clone for USF1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USF1
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                         Customized lentivirus expression plasmids for stable overexpression of USF1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USF1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for USF1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signaling mediated by p38-alpha and p38-beta
    Signaling mediated by p38-alpha and p38-beta


    1 BioSystems Pathway for USF1
        Signaling mediated by p38-alpha and p38-beta



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for USF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/47 Interacting proteins for USF1 (P224151, 3 ENSP000003569994) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KAT2BQ928311, 3, ENSP000002637544EBI-1054489,EBI-477430 I2D: score=2 STRING: ENSP00000263754
    PRKDCP785273, ENSP000003134204I2D: score=3 STRING: ENSP00000313420
    FOSL1P154073, ENSP000003101704I2D: score=2 STRING: ENSP00000310170
    GTF2IP783473, ENSP000003225424I2D: score=2 STRING: ENSP00000322542
    TOP2BQ028803, ENSP000003967044I2D: score=2 STRING: ENSP00000396704
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000430regulation of transcription from RNA polymerase II promoter by glucose IC8576131
    GO:0000432positive regulation of transcription from RNA polymerase II promoter by glucose ISS--
    GO:0001666response to hypoxia IMP12917334
    GO:0006006glucose metabolic process IEA--
    GO:0006355regulation of transcription, DNA-dependent ----

    USF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    USF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for USF1

    10/18 Novoseek inferred chemical compound relationships for USF1 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 56.9 24 8306960 (2), 7642609 (2), 17827227 (2), 16010690 (1) (see all 16)
    oligonucleotide 30.6 9 10527831 (2), 7983715 (1), 15684402 (1), 1869565 (1) (see all 8)
    glucose 25.1 39 12200434 (4), 7852331 (4), 16376850 (3), 15175273 (3) (see all 20)
    lipid 21.4 35 18593823 (3), 19910639 (3), 15175273 (3), 15310455 (1) (see all 21)
    deoxycytidine 17 2 14514691 (1), 15729384 (1)
    cholesterol 16.6 10 18593823 (4), 17065663 (1), 15959806 (1), 18230803 (1) (see all 5)
    3-methylcholanthrene 13.5 4 9388470 (1)
    sterol 12.8 3 15814457 (1), 17493856 (1), 17313375 (1)
    chloramphenicol 12.5 2 7499336 (1), 9731700 (1)
    fatty acid 5.84 3 15814457 (1), 10103003 (1), 17313375 (1)

    Search CenterWatch for drugs/clinical trials and news about USF1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for USF1 gene (3 alternative transcripts): 
    NM_001276373.1  NM_007122.4  NM_207005.2  

    Unigene Cluster for USF1:

    Upstream transcription factor 1
    Hs.414880  [show with all ESTs]
    Unigene Representative Sequence: AL832119
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368020 ENST00000368021(uc001fxi.3 uc001fxj.3) ENST00000472217
    ENST00000368019 ENST00000473969 ENST00000528768 ENST00000531842 ENST00000496363
    ENST00000491629 ENST00000534633 ENST00000529476 ENST00000435396
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat USF1
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate USF1 (see all 16):
    hsa-miR-148b hsa-miR-449a hsa-miR-1252 hsa-miR-4273 hsa-miR-148a hsa-miR-34c-5p hsa-miR-4271 hsa-miR-449b
    SwitchGear 3'UTR luciferase reporter plasmidUSF1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USF1
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USF1

    Additional mRNA sequence: 

    AB098540.1 AK314876.1 AL832119.1 BC035505.2 X55666.1 

    7 DOTS entries:

    DT.433299  DT.91708168  DT.91708167  DT.95172988  DT.100751470  DT.95172983  DT.100689001 

    24/44 AceView cDNA sequences (see all 44):

    T28080 BX284104 AW607964 AB098540 BM837168 BI910596 BG743195 NM_207005 
    NM_007122 BQ951602 BC035505 BX400480 BI768672 BX400481 BI907062 BX327387 
    X55666 AL558282 BG696772 R46312 BQ688770 AL832119 BP349554 AA449938 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for USF1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c
    SP1:                          -                                   -                             -                           
    SP2:                                            -                 -                             -                           
    SP3:                          -                                                                                             
    SP4:                          -                 -                                                                           
    SP5:                          -                       -                                                                     


    ECgene alternative splicing isoforms for USF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    USF1 expression in normal human tissues (normalized intensities)      USF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAGGAGAT
    USF1 Expression
    About this image


    USF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/36 selected tissues (see all 36) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   

    See USF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for USF1

    SOURCE GeneReport for Unigene cluster: Hs.414880
        SABiosciences Expression via Pathway-Focused PCR Array including USF1: 
              JAK / STAT Signaling Pathway in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for USF1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usf11 , 5 upstream transcription factor 11, 5 90.43(n)1
    98.39(a)1
      1 (79.40 cM)5
    222781  NM_009480.21  NP_033506.11 
     1714113135 
    chicken
    (Gallus gallus)
    Aves USF11 upstream transcription factor 1 78.57(n)
    87.99(a)
      425126  NM_001007485.1  NP_001007486.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia BX851477.12   -- 79.42(n)    BX851477.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC049481.12   -- 74.3(n)   393266  BC049481.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Usf6
    Usf
    16(a)
    1 → many
    X(4438648-4442802)


    ENSEMBL Gene Tree for USF1 (if available)
    TreeFam Gene Tree for USF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for USF1 gene
    USF22  
    4 SIMAP similar genes for USF1 using alignment to 6 protein entries:     USF1_HUMAN (see all proteins):
    usf1-bd    USF2    MAX    KIAA2018

    USF1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for USF1
    PGOHUM00000239166


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/262 SNPs in USF1 are shown (see all 262)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3681683291,2
    C--132367025(+) AAAAA-/GAAAAG 3 -- ut310--------
    rs346115721,2
    C--161013411(+) TTTTT-/TTTGAGAC 3 -- int11Minor allele frequency- TTT:0.00NA 2
    rs716856211,2
    C--161013733(+) TTTTT-/T/TT  
            
    TTTTT
    3 -- int10--------
    rs37663831,2
    C,F--167504770(-) TGAGGT/GGTCTT 3 -- ds500110Minor allele frequency- G:0.47EA NS NA WA CSA 1940
    rs120817411,2
    C,H--167504900(+) CGAGTC/TTCCGG 3 -- ds50015Minor allele frequency- T:0.00NS EA NA 422
    rs1144527111,2
    C,F--167504938(+) GCCTGC/TAACAT 3 -- ds50011Minor allele frequency- T:0.01NA 120
    rs758723921,2
    F--167504996(+) CGCCTC/TCCGCG 3 -- ds50011Minor allele frequency- T:0.50NA 4
    rs37663821,2
    C,F,A--167505001(-) GGCGGA/CGCGGG 3 -- ds50018Minor allele frequency- C:0.48EA NS NA WA CSA 1884
    rs66565471,2
    C,F--167505047(+) CCCACC/AGCAGA 3 -- ds50016Minor allele frequency- A:0.03NS NA 220
    rs115852241,2
    C,H--167505057(+) AAGCCC/TTTAAC 3 -- ds50014Minor allele frequency- T:0.00NS EA 420

    HapMap Linkage Disequilibrium report for USF1 (161009041 - 161015767 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for USF1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv3221CNV Loss18451855
    nsv872492CNV Gain21882294


    Human Gene Mutation Database (HGMD): USF1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing USF1
    DNA2.0 Custom Variant and Variant Library Synthesis for USF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 191523   
    OMIM disorders: 602491  
    UniProtKB/Swiss-Prot: USF1_HUMAN, P22415
  • Hyperlipidemia combined 1 (HYPLIP1) [MIM:602491]: A disorder characterized by a variable pattern of
    elevated levels of serum total cholesterol, triglycerides or both. It is observed in a percentage of individuals
    with premature coronary heart disease. Note=Disease susceptibility is associated with variations affecting the
    gene represented in this entry

  • 20/32 diseases for USF1 (see all 32):    About MalaCards
    familial combined hyperlipidemia    familial hyperlipidemia    familial hypertriglyceridemia    hypertriglyceridemia
    metabolic disorders    hiv type 1    coronary heart disease    non-small cell lung carcinoma
    microphthalmia    osteosarcoma    atherosclerosis    oral cancer
    glioblastoma    was-related disorders    hypercholesterolemia    endometriosis
    acute lymphoblastic leukemia    acute myeloid leukemia    lymphoblastic leukemia    hypoxia

    3 diseases from the University of Copenhagen DISEASES database for USF1:
    Familial hyperlipidemia     Familial hypertriglyceridemia     Coronary heart disease

    USF1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/17 Novoseek inferred disease relationships for USF1 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperlipidemia familial combined 87 48 16531745 (6), 17065663 (2), 15959806 (2), 15976322 (2) (see all 21)
    dyslipidemia 38.1 16 20031629 (4), 19910639 (1), 16680034 (1), 19750004 (1) (see all 6)
    glioblastoma 21.7 3 12444925 (2), 11776974 (1)
    coronary heart disease 17.4 6 18276913 (2), 20031629 (1), 18577828 (1)
    immunodeficiency 12 5 7824954 (1), 15767439 (1), 2251256 (1), 11153081 (1) (see all 5)
    metabolic disorder 11.9 5 18303204 (1)
    carcinoma 2.78 1 17379962 (1)
    cardiovascular diseases 0 7 16699592 (2), 15310455 (1), 17885212 (1), 19403457 (1)
    niddm 0 3 18593823 (2), 16531745 (1)
    cancer lung 0 2 12403649 (2)

    Genetic Association Database (GAD): USF1
    Human Genome Epidemiology (HuGE) Navigator: USF1 (28 documents)

    Export disorders for USF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for USF1 gene, integrated from 9 sources (see all 340):
    (articles sorted by number of sources associating them with USF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies. (PubMed id 16699592)1, 4, 9 Komulainen K....Peltonen L. (2006)
    2. Genetic variants in the upstream stimulatory factor 1 (USF1) gene are associated with LDL cholesterol levels and incident T2DM in women: results from the MONICA/KORA Augsburg case-cohort study, 1984-2002. (PubMed id 18593823)1, 4, 9 Holzapfel C....Klopp N. (2008)
    3. USF1 gene variants, cardiovascular risk, and mortality in European Americans: analysis of two US cohort studies. (PubMed id 17885212)1, 4, 9 Reiner A.P....Tracy R.P. (2007)
    4. Common polymorphisms in the USF1 gene are not associated with type 2 diabetes in French Caucasians. (PubMed id 16186412)1, 4, 9 Gibson F....Froguel P. (2005)
    5. The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population. (PubMed id 16132950)1, 4, 9 Ng M.C....Chan J.C. (2005)
    6. Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). (PubMed id 14991056)1, 2, 9 Pajukanta P.... Peltonen L. (2004)
    7. Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis. (PubMed id 19910639)1, 4, 9 Laurila P.P....Peltonen L. (2010)
    8. Upstream transcription factor 1 gene polymorphisms are associated with high antilipolytic insulin sensitivity and show gene-gene interactions. (PubMed id 17016691)1, 4, 9 Kantartzis K....Stefan N. (2007)
    9. Associations between USF1 gene variants and cardiovascular risk factors in the Quebec Family Study. (PubMed id 17309647)1, 4, 9 Choquette A.C....Vohl M.C. (2007)
    10. Allelic variants of upstream transcription factor 1 associate with carotid artery intima-media thickness. (PubMed id 18577828)1, 4, 9 Collings A....Lehtimaki T.J. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7391 HGNC: 12593 AceView: USF1 Ensembl:ENSG00000158773 euGenes: HUgn7391
    ECgene: USF1 H-InvDB: USF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for USF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for USF1 Genetics and Cytogenetics in Oncology and Haematology
    SeattleSNPshttp://pga.gs.washington.edu/data/usf1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for USF1 gene:
    Search GeneIP for patents involving USF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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