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    SP1 Sp1 transcription factor [ Homo sapiens (human) ]

    Gene ID: 6667, updated on 15-Oct-2017
    Official Symbol
    SP1provided by HGNC
    Official Full Name
    Sp1 transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:11205
    See related
    Ensembl:ENSG00000185591 MIM:189906; Vega:OTTHUMG00000170047
    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
    Summary
    The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
    Orthologs
    Location:
    12q13.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (53380195..53416446)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53773979..53810230)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene aladin WD repeat nucleoporin Neighboring gene Sp7 transcription factor Neighboring gene anti-Mullerian hormone receptor type 2 Neighboring gene proline rich 13

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Pol gag-pol Transcription factors Oct-1, Oct-2, PU.1, Sp1, and Sp3 are recruited to the HS7 regulatory site in the pol coding region, suggesting that Oct-1, Oct-2, PU.1, Sp1, and Sp3 indirectly interact with HIV-1 Pol PubMed
    Tat tat HIV-1 Tat induces p73 at transcriptional levels only in the presence of Sp1 in cells PubMed
    tat The interaction of HIV-1 Tat with cellular transcription factors CDK9 and Sp1 is required for Tat activation of MAP2K3-, MAP2K6-, and IRF7-mediated luciferase transcription PubMed
    tat HIV-1 Tat expression inhibits the TCF-4-induced inhibition of Sp1 phosphorylation and Sp1-mediated HIV-1 LTR transcription PubMed
    tat Sp1 synergizes with HIV-1 Tat to activate HIV-1 transcription PubMed
    tat HIV-1 Tat binds to DNA-PK and augments DNA-PK-mediated phosphorylation of Sp1 during Tat transactivation of the HIV-1 LTR promoter PubMed
    tat Sp1 and Sp1-binding sites in the HIV-1 LTR promoter are required for HIV-1 Tat-mediated activation of viral transcription elongation PubMed
    tat Tat-induced IL-10 expression is regulated by p38 MAPK- and CaMK II-activated CREB-1 as well as Sp-1 transcription factors PubMed
    tat Hydroxyurea and IL-6 synergistically enhance HIV-1 Tat activation of HIV-1 LTR-driven transcription via the Sp1 binding site PubMed
    tat HIV-1 Tat downregulates SOD2 expression by interacting with Sp1 and Sp3 to increase the Sp3-containing complexes on the basal SOD2 promoter PubMed
    tat In hepatic cells, HIV-1 Tat expression upregulates Sp1 and Sp3, which play different roles in regulating MnSOD transcription (overexpression of Sp1 stimulates, while overexpression of Sp3 represses transcriptional activity) PubMed
    tat HIV-1 Tat represses transcription from the MHC class I, MDR1, minimal SV40 and other Sp1-dependent promoters, indicating Tat downregulates expression from these promoters by inhibiting Sp1 function PubMed
    tat HIV-1 Tat increases Sp1 binding in HeLa cells, suggesting Tat changes the conformation of Sp1 in order to regulate its function during HIV-1 transcription activation PubMed
    tat Sp1, COUP-TF and HIV-1 Tat interact and cooperate in the transcriptional activation of the HIV-1 LTR promoter in human microglial cells PubMed
    tat HIV-1 Tat upregulates the expression of galectin-3, NOS-3, and monocyte chemoattractant protein 1 (MCP-1) through Sp1 activation PubMed
    tat YB-1 and Sp1 exert negative effects on each other's function in enhancing transcription from the HIV-1 promoter, suggesting an interplay between these two proteins during regulation of HIV-1 Tat function PubMed
    tat The tumor suppressor protein p53 inhibits HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter through an interaction with the Sp1 sites in the LTR, suggesting an inhibition of Sp1 effects on Tat function PubMed
    tat HIV-1 Tat amino acids 30-55 mediate binding of Tat to Sp1, an effect that some reports indicate is a direct binding interaction, while other reports suggest it is indirect and possibly mediated through interaction with other cellular factors PubMed
    tat HIV-1 Tat cooperates with Sp1 to enhance transcript elongation, leading to exon skipping and effects on splicing PubMed
    Vpr vpr HIV-1 Vpr induces HIF-1alpha expression, which involves the presence of Sp1 and the p65 subunit of NFkappaB transcription factors PubMed
    vpr HIV-1 Vpr activates promoter activity of p21/Cip1/Waf1 through the GC-rich region located between nucleotides -84 and -74 in a manner that requires cooperativity of Sp1, which binds to the DNA sequence spanning -84 to -74 PubMed
    vpr Results from GST pull-down assays show the association of Vpr with p53 in extracts containing Sp1, suggesting the physical interaction of Vpr with Sp1 and p53 could modulate transcriptional activity of p21 PubMed
    vpr HIV-1 Vpr interacts with Sp1 in the context of an Sp1-DNA complex that may also include p53, resulting in the transactivation of the HIV-1 LTR promoter PubMed
    nucleocapsid gag HIV-1 Nucleocapsid has been shown to bind to the HIV-1 LTR promoter and enhance NF-kappaB, Sp1, and TFIIB-induced HIV-1 LTR-directed RNA transcription PubMed

    Go to the HIV-1, Human Interaction Database

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    • Breast cancer, conserved biosystem (from KEGG)
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    • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      C-MYB transcription factor network, organism-specific biosystem
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    • Cellular Senescence, organism-specific biosystem (from REACTOME)
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    • Choline metabolism in cancer, organism-specific biosystem (from KEGG)
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    • Corticotropin-releasing hormone signaling pathway, organism-specific biosystem (from WikiPathways)
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    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
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      E2F transcription factor network, organism-specific biosystem
      E2F transcription factor network
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    • Estrogen signaling pathway, conserved biosystem (from KEGG)
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      FOXA1 transcription factor network, organism-specific biosystem
      FOXA1 transcription factor network
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      FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
      FOXA2 and FOXA3 transcription factor networks
    • FOXM1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      FOXM1 transcription factor network, organism-specific biosystem
      FOXM1 transcription factor network
    • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
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    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
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    • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-1-alpha transcription factor network, organism-specific biosystem
      HIF-1-alpha transcription factor network
    • HIF-2-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-2-alpha transcription factor network, organism-specific biosystem
      HIF-2-alpha transcription factor network
    • Huntington's disease, organism-specific biosystem (from KEGG)
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    • Huntington's disease, conserved biosystem (from KEGG)
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    • IL17 signaling pathway, organism-specific biosystem (from WikiPathways)
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    • IL2 signaling events mediated by STAT5, organism-specific biosystem (from Pathway Interaction Database)
      IL2 signaling events mediated by STAT5, organism-specific biosystem
      IL2 signaling events mediated by STAT5
    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-mediated signaling events
    • Initiation of transcription and translation elongation at the HIV-1 LTR, organism-specific biosystem (from WikiPathways)
      Initiation of transcription and translation elongation at the HIV-1 LTR, organism-specific biosystemFollowing cellular activation or drug treatment, NFAT and NF-kB translocate to the nucleus and bind sites at the HIV-1 LTR. NFAT and NF-kB recruit p300/CBP to the LTR, resulting in acetylation of his...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
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    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
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      Mitochondrial Gene Expression, organism-specific biosystemNumerous nuclear-encoded genes co-ordinate the expression of genes encoded on the mitochondrial genome.
    • Mitophagy - animal, organism-specific biosystem (from KEGG)
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    • Oncogene Induced Senescence, organism-specific biosystem (from REACTOME)
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    • Oxidative Stress, organism-specific biosystem (from WikiPathways)
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    • PPARA activates gene expression, organism-specific biosystem (from REACTOME)
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    • RNA polymerase II transcribes snRNA genes, organism-specific biosystem (from REACTOME)
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    • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Telomerase, organism-specific biosystem
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    • Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystem (from REACTOME)
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    • Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
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    • Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem
      Regulation of nuclear SMAD2/3 signaling
    • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystem (from REACTOME)
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    • Selenium Metabolism and Selenoproteins, organism-specific biosystem (from WikiPathways)
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    • Signal Transduction, organism-specific biosystem (from REACTOME)
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    • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
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    • Sterol Regulatory Element-Binding Proteins (SREBP) signalling, organism-specific biosystem (from WikiPathways)
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    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
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    • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
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    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
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    • Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystem (from REACTOME)
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    • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
      Transcriptional misregulation in cancer, organism-specific biosystem
      Transcriptional misregulation in cancer
    • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
      Transcriptional misregulation in cancer, conserved biosystem
      Transcriptional misregulation in cancer
    • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional repression, organism-specific biosystem
      Validated targets of C-MYC transcriptional repression
    • Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem (from Pathway Interaction Database)
      Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem
      Validated transcriptional targets of AP1 family members Fra1 and Fra2
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    HMG box domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II core promoter proximal region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA polymerase II regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II repressing transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    bHLH transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    core promoter sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone acetyltransferase binding IEA
    Inferred from Electronic Annotation
    more info
     
    histone deacetylase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    repressing transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    protein-DNA complex IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional repressor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    transcription factor Sp1
    Names
    specificity protein 1

    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_030361.1 RefSeqGene

      Range
      5001..41252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001251825.1NP_001238754.1  transcription factor Sp1 isoform c

      See identical proteins and their annotated locations for NP_001238754.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC068889, AW028976, BC062539, FN908228
      UniProtKB/Swiss-Prot
      P08047
      Conserved Domains (4) summary
      COG5048
      Location:593664
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:580602
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:638660
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:624647
      zf-H2C2_2; Zinc-finger double domain
    2. NM_003109.1NP_003100.1  transcription factor Sp1 isoform b

      See identical proteins and their annotated locations for NP_003100.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform b has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC068889, AI561005, BC043224, BC062539
      Consensus CDS
      CCDS44898.1
      UniProtKB/Swiss-Prot
      P08047
      Related
      ENSP00000404263.2, OTTHUMP00000242706, ENST00000426431.2, OTTHUMT00000407045
      Conserved Domains (4) summary
      COG5048
      Location:634705
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:621643
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:679701
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:665688
      zf-H2C2_2; Zinc-finger double domain
    3. NM_138473.2NP_612482.2  transcription factor Sp1 isoform a

      See identical proteins and their annotated locations for NP_612482.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AF255682, AI282745, AL442093, BC012008, BC043224, BF434304, BF436290, BF671559, BM463205, BQ072120, BQ431320, BQ774060, CD104746
      Consensus CDS
      CCDS8857.1
      UniProtKB/Swiss-Prot
      P08047
      Related
      ENSP00000329357.4, OTTHUMP00000242705, ENST00000327443.8, OTTHUMT00000407044
      Conserved Domains (3) summary
      sd00017
      Location:628650
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:686708
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:672695
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      53380195..53416446
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538696.2XP_011536998.1  transcription factor Sp1 isoform X1

      See identical proteins and their annotated locations for XP_011536998.1

      UniProtKB/Swiss-Prot
      P08047
      Conserved Domains (4) summary
      COG5048
      Location:634705
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:621643
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:679701
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:665688
      zf-H2C2_2; Zinc-finger double domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      53741140..53777425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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