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TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase [ Homo sapiens (human) ]

Gene ID: 10210, updated on 10-Dec-2024

Summary

Official Symbol
TOPORSprovided by HGNC
Official Full Name
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligaseprovided by HGNC
Primary source
HGNC:HGNC:21653
See related
Ensembl:ENSG00000197579 MIM:609507; AllianceGenome:HGNC:21653
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
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Genomic context

See TOPORS in Genome Data Viewer
Location:
9p21.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (32540544..32552586, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (32556707..32568751, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (32540542..32552584, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101060445 Neighboring gene uncharacterized LOC124902138 Neighboring gene RNA sensor RIG-I Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:32508078-32508796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:32508797-32509513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19827 Neighboring gene H3K27ac hESC enhancers GRCh37_chr9:32551644-32552358 and GRCh37_chr9:32552359-32553072 Neighboring gene small integral membrane protein 27 Neighboring gene NADH:ubiquinone oxidoreductase subunit B6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28266 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Retinitis pigmentosa 31 Compare labs

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA topoisomerase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables SUMO transferase activity EXP
Inferred from Experiment
more info
PubMed 
enables SUMO transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables SUMO transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables antigen binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin-protein transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in DNA-templated transcription NAS
Non-traceable Author Statement
more info
PubMed 
involved_in intrinsic apoptotic signaling pathway in response to DNA damage IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
Inferred from Electronic Annotation
more info
 
involved_in maintenance of protein location in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein localization to nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein monoubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein sumoylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein sumoylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein sumoylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein sumoylation TAS
Traceable Author Statement
more info
 
involved_in regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with PML body IDA
Inferred from Direct Assay
more info
PubMed 
located_in PML body IDA
Inferred from Direct Assay
more info
PubMed 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
part_of gamma-tubulin complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in midbody TAS
Traceable Author Statement
more info
PubMed 
is_active_in nuclear speck IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in photoreceptor connecting cilium IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
part_of 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)

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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
    5039..17081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195622.2NP_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/TrEMBL
    A0A0F6QNT9
    Related
    ENSP00000369187.1, ENST00000379858.1
    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_005802.5NP_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
    O43273, Q6P987, Q9NS55, Q9NS56, Q9UNR9
    UniProtKB/TrEMBL
    A0A0F6QNT9
    Related
    ENSP00000353735.2, ENST00000360538.7
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    32540544..32552586 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    32556707..32568751 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)