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    SP3 Sp3 transcription factor [ Homo sapiens (human) ]

    Gene ID: 6670, updated on 8-Apr-2018
    Official Symbol
    SP3provided by HGNC
    Official Full Name
    Sp3 transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:11208
    See related
    Ensembl:ENSG00000172845 MIM:601804; Vega:OTTHUMG00000132333
    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
    SPR2
    Summary
    This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. A related pseudogene has been identified on chromosome 13. [provided by RefSeq, Feb 2010]
    Expression
    Ubiquitous expression in bone marrow (RPKM 21.0), thyroid (RPKM 19.7) and 25 other tissues See more
    Orthologs
    See SP3 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (173906459..173965702, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (174771187..174830430, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373745 Neighboring gene ribosomal protein L5 pseudogene 7 Neighboring gene long intergenic non-protein coding RNA 1960 Neighboring gene ribosomal protein SA pseudogene 24

    • 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?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of chronic otitis media with effusion and recurrent otitis media identifies a novel susceptibility locus on chromosome 2.
    NHGRI GWA Catalog
    Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes.
    NHGRI GWA Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    NHGRI GWA Catalog

    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 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 Sp3 represses basal expression from the HIV-1 LTR promoter, and overexpression of Sp3 inhibits HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter PubMed

    Go to the HIV-1, Human Interaction Database

    • MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
      MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Telomerase, organism-specific biosystem
      Regulation of Telomerase
    • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
      SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
    • SUMOylation, organism-specific biosystem (from REACTOME)
      SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
    • SUMOylation of transcription factors, organism-specific biosystem (from REACTOME)
      SUMOylation of transcription factors, organism-specific biosystemProteins classified as transcription factors constitute a disproportionate number of SUMOylation targets. In most cases SUMOylation inhibits transcriptional activation, however in some cases such as ...
    • Selenium Metabolism and Selenoproteins, organism-specific biosystem (from WikiPathways)
      Selenium Metabolism and Selenoproteins, organism-specific biosystem* Comments belonging to specific genes on the Selenoprotein pathway ** TRXND3 gene: Although the geneID is correct, the sequence of this gene was guessed by analogy. ** Cystathionine gamma-lyase is t...
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686O1631

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    definitive hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic process involved in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    enucleate erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    granulocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    megakaryocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    monocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    natural killer cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ossification IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein sumoylation TAS
    Traceable Author Statement
    more info
     
    regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    trophectodermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    PML body IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    protein-DNA complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    transcriptional repressor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    transcription factor Sp3
    Names
    GC-binding transcription factor Sp3
    specificity protein 3

    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_029153.1 RefSeqGene

      Range
      5001..64244
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017371.4NP_001017371.3  transcription factor Sp3 isoform 2

      See identical proteins and their annotated locations for NP_001017371.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing exons 1 and 2 found in transcript variant 1, and has a different 5' end. It initiates translation from a non-AUG (AUA) start site, and encodes an isoform (2) with a shorter N-terminus compared to isoform 1. Alternative translation initiation from downstream, in-frame AUG start codons produces shorter isoforms.
      Source sequence(s)
      AB209334, AY070137, BQ010796, M97191
      Consensus CDS
      CCDS46452.1
      UniProtKB/Swiss-Prot
      Q02447
      UniProtKB/TrEMBL
      Q59FX5
      Related
      ENSP00000406140.2, OTTHUMP00000220849, ENST00000418194.6, OTTHUMT00000333998
      Conserved Domains (4) summary
      COG5048
      Location:568650
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:555577
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:613635
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:599622
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001172712.1NP_001166183.1  transcription factor Sp3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1. Alternative translation initiation from downstream, in-frame start codons produces shorter isoforms.
      Source sequence(s)
      AB209334, AY441957, BC143928, BQ010796, M97191
      UniProtKB/Swiss-Prot
      Q02447
      UniProtKB/TrEMBL
      B7ZLN9, Q59FX5
      Related
      ENSP00000413665.1, OTTHUMP00000205122, ENST00000416195.1, OTTHUMT00000333997
      Conserved Domains (4) summary
      COG5048
      Location:633715
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:620642
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:678700
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:664687
      zf-H2C2_2; Zinc-finger double domain
    3. NM_003111.4NP_003102.1  transcription factor Sp3 isoform 1

      See identical proteins and their annotated locations for NP_003102.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Alternative translation initiation from downstream, in-frame start codons produces shorter isoforms.
      Source sequence(s)
      AC093399, AY070137, AY441957, BC042945, M97191
      Consensus CDS
      CCDS2254.1
      UniProtKB/Swiss-Prot
      Q02447
      UniProtKB/TrEMBL
      Q86TP0
      Related
      ENSP00000310301.6, OTTHUMP00000163171, ENST00000310015.10, OTTHUMT00000255452
      Conserved Domains (4) summary
      COG5048
      Location:636718
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:623645
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:681703
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:667690
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      173906459..173965702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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