Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    TOPORS TOP1 binding arginine/serine rich protein [ Homo sapiens (human) ]

    Gene ID: 10210, updated on 3-Sep-2017
    Official Symbol
    TOPORSprovided by HGNC
    Official Full Name
    TOP1 binding arginine/serine rich proteinprovided by HGNC
    Primary source
    HGNC:HGNC:21653
    See related
    Ensembl:ENSG00000197579 MIM:609507; Vega:OTTHUMG00000019743
    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
    LUN; RP31; P53BP3; TP53BPL
    Summary
    This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]
    Orthologs
    Location:
    9p21.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (32540544..32552628, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (32540542..32552626, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376014 Neighboring gene DExD/H-box helicase 58 Neighboring gene small integral membrane protein 27 Neighboring gene NADH:ubiquinone oxidoreductase subunit B6 Neighboring gene DNA fragmentation factor subunit beta pseudogene 1 Neighboring gene uncharacterized LOC105376015

    • 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?

    Associated conditions

    Description Tests
    Retinitis pigmentosa 31 Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    NHGRI GWA Catalog
    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 
    DNA topoisomerase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    SUMO transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SUMO transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    antigen binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-protein transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to DNA damage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
    Inferred from Electronic Annotation
    more info
     
    maintenance of protein location in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    photoreceptor cell outer segment organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein monoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein sumoylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein sumoylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    retina layer formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    retinal cone cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    retinal rod cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cytoplasmic dynein complex TAS
    Traceable Author Statement
    more info
    PubMed 
    gamma-tubulin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    midbody TAS
    Traceable Author Statement
    more info
    PubMed 
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    E3 ubiquitin-protein ligase Topors
    Names
    RING-type E3 ubiquitin transferase Topors
    SUMO1-protein E3 ligase Topors
    topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
    topoisomerase I-binding RING finger protein
    tumor suppressor p53-binding protein 3
    NP_001182551.1
    NP_005793.2

    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_017050.1 RefSeqGene

      Range
      4997..17081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195622.1NP_001182551.1  E3 ubiquitin-protein ligase Topors isoform 2

      See identical proteins and their annotated locations for NP_001182551.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AB045733, BC060884, BJ993131, BQ007035, BU674865, DA238762, U82939
      Consensus CDS
      CCDS56566.1
      UniProtKB/Swiss-Prot
      Q9NS56
      Related
      ENSP00000369187.1, OTTHUMP00000021183, ENST00000379858.1, OTTHUMT00000052008
      Conserved Domains (1) summary
      cd00162
      Location:3780
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    2. NM_005802.4NP_005793.2  E3 ubiquitin-protein ligase Topors isoform 1

      See identical proteins and their annotated locations for NP_005793.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC060884, BJ993131, BQ007035, BU674865, DA238762, U82939
      Consensus CDS
      CCDS6527.1
      UniProtKB/Swiss-Prot
      Q9NS56
      Related
      ENSP00000353735.2, OTTHUMP00000021182, ENST00000360538.6, OTTHUMT00000052007
      Conserved Domains (1) summary
      cd00162
      Location:102145
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    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_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      32540544..32552628 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      32540543..32552661 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center