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

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations of TOPORS identified in families with retinitis pigmentosa.
Title: Mutations of TOPORS identified in families with retinitis pigmentosa.
Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.
Title: Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.
A novel mutation of the TOPORS gene was identified, c.2539C>T p.(Arg847Ter), resulting in a premature termination codon and suggesting haploinsufficiency as the pathological mechanism.
Title: A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.
P26s4 Associates with the C-Terminal Region of TOPORS.
Title: TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene.
Data suggest that TOPORS plays key role in turnover of H2AX (H2A histone family, member X protein) depending on the type of oxidative stress/DNA damage; TOPORS may act as an E3 ubiquitin ligase for histones.
Title: TOPORS modulates H2AX discriminating genotoxic stresses.
Disturbed flow induces peroxynitrite production and binding to the E3 SUMO (small ubiquitin-like modifier) ligase PIASy (protein inhibitor of activated STATy).
Title: Disturbed flow: p53 SUMOylation in the turnover of endothelial cells.
In photoreceptors, TOPORS localizes primarily to the basal bodies of connecting cilium and in the centrosomes.
Title: TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
Polo-like kinase 1 (Plk1)-associated phosphorylation of Topors at S718 is essential for nocodazole-induced degradation of Topors.
Title: Plk1 phosphorylation of Topors is involved in its degradation.
We present a novel mutation in the TOPORS gene co-segregating with a distinct phenotype of adPRD in a large Norwegian family.
Title: Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 31 MedGen: C1835923 OMIM: 609923 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-H04756 (e-PCR)
- UniSTS:57886

RH98974 (e-PCR)
- UniSTS:91240

RH93565 (e-PCR)
- UniSTS:88465

RH68036 (e-PCR)
- UniSTS:10650

G30177 (e-PCR)
- UniSTS:62369

RH81057 (e-PCR)
- UniSTS:87749

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

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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

EC 2.3.2.27

NP_005793.2

EC 2.3.2.27

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

NG_017050.1 RefSeqGene

Range

5039..17081

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001195622.2 → NP_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:37 → 80

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 ...
NM_005802.5 → NP_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:102 → 145

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 ...