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

Gene ID: 10210, updated on 4-Nov-2018

Summary

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]
Expression
Ubiquitous expression in testis (RPKM 10.5), bone marrow (RPKM 10.0) and 25 other tissues See more
Orthologs

Genomic context

See TOPORS in Genome Data Viewer
Location:
9p21.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 aconitase 1 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

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 IDA
Inferred from Direct Assay
more info
PubMed 
DNA topoisomerase binding IPI
Inferred from Physical Interaction
more info
PubMed 
SUMO transferase activity EXP
Inferred from Experiment
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
 
nucleoplasm TAS
Traceable Author Statement
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 

General protein information

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

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_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 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_000009.12 Reference GRCh38.p12 Primary Assembly

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