TICRR TOPBP1 interacting checkpoint and replication regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: TICRRprovided by HGNC
Official Full Name: TOPBP1 interacting checkpoint and replication regulatorprovided by HGNC
Primary source: HGNC:HGNC:28704
See related: Ensembl:ENSG00000140534 MIM:613298; AllianceGenome:HGNC:28704
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SLD3; Treslin; C15orf42
Summary: Enables chromatin binding activity. Involved in regulation of DNA-dependent DNA replication initiation. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in bone marrow (RPKM 1.6), testis (RPKM 1.3) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (89575469..89628023)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (87331418..87383956)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90118700..90171254)

Chromosome 15 - NC_000015.10 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?

Identification of hub genes and their correlation with infiltration of immune cells in MYCN positive neuroblastoma based on WGCNA and LASSO algorithm.
Title: Identification of hub genes and their correlation with infiltration of immune cells in MYCN positive neuroblastoma based on WGCNA and LASSO algorithm.
Oncogenic circTICRR suppresses autophagy via binding to HuR protein and stabilizing GLUD1 mRNA in cervical cancer.
Title: Oncogenic circTICRR suppresses autophagy via binding to HuR protein and stabilizing GLUD1 mRNA in cervical cancer.
Refining the domain architecture model of the replication origin firing factor Treslin/TICRR.
Title: Refining the domain architecture model of the replication origin firing factor Treslin/TICRR.
The CRL4DTL E3 ligase induces degradation of the DNA replication initiation factor TICRR/TRESLIN specifically during S phase.
Title: The CRL4DTL E3 ligase induces degradation of the DNA replication initiation factor TICRR/TRESLIN specifically during S phase.
Overexpression of TICRR and PPIF confer poor prognosis in endometrial cancer identified by gene co-expression network analysis.
Title: Overexpression of TICRR and PPIF confer poor prognosis in endometrial cancer identified by gene co-expression network analysis.
Binding of the Treslin-MTBP Complex to Specific Regions of the Human Genome Promotes the Initiation of DNA Replication.
Title: Binding of the Treslin-MTBP Complex to Specific Regions of the Human Genome Promotes the Initiation of DNA Replication.
The conserved C-terminal domain of DUE-B is required for its binding to TopBP1, Treslin, Cdc45, and the MCM2-7 complex, as well as for the efficient loading of Treslin, Cdc45, and TopBP1 on chromatin
Title: Interaction between DUE-B and Treslin is required to load Cdc45 on chromatin in human cells.
these data uncover two distinct mechanisms by which mutp53 enhances DNA replication: (i) Both contact and conformational mutp53s can bind TopBP1 and attenuate the checkpoint response to replication stress, and (ii) during normal growth, contact (but not conformational) mutp53s can override the Cdk2 requirement to promote replication by facilitating the TopBP1/Treslin interaction.
Title: Mutant p53 perturbs DNA replication checkpoint control through TopBP1 and Treslin.
The extended S phase in Ensa-depleted cells is completely rescued by the overexpression of Treslin.
Title: Ensa controls S-phase length by modulating Treslin levels.
Variation at rs12913965 may affect the risk for shoulder dislocation by affecting the activity of either TICRR or ISG20.
Title: A Genetic Marker Associated with Shoulder Dislocation.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

EBI GWAS Catalog

Description
Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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

RH102284 (e-PCR)
- UniSTS:96618

PMC311040P5 (e-PCR)
- UniSTS:272862

RH99140 (e-PCR)
- UniSTS:88820

D15S1437E (e-PCR)
- UniSTS:474366

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA replication	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic DNA replication checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic DNA replication checkpoint signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic G2 DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic G2 DNA damage checkpoint signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated DNA replication initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated DNA replication initiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ionizing radiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: treslin

Names: topBP1-interacting checkpoint and replication regulator; topBP1-interacting replication-stimulating protein

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.

mRNA and Protein(s)

NM_001308025.1 → NP_001294954.1 treslin isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1)

Source sequence(s)

AC013787, AW627706, GQ227787

Consensus CDS

CCDS76791.1

UniProtKB/Swiss-Prot

Q7Z2Z1

Related

ENSP00000453306.1, ENST00000560985.5

Conserved Domains (1) summary

pfam15292
Location:208 → 1003

Treslin_N; Treslin N-terminus
NM_152259.4 → NP_689472.3 treslin isoform 2

See identical proteins and their annotated locations for NP_689472.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC013391, AK123612, AW627706, BX538335, CN285632, DR731357, DR731358

Consensus CDS

CCDS10352.2

UniProtKB/Swiss-Prot

B2RE07, B3KVV9, D3IUT4, Q7Z2Z1, Q8N4X8, Q8NCH6, Q9BU55

Related

ENSP00000268138.7, ENST00000268138.12

Conserved Domains (1) summary

pfam15292
Location:208 → 1004

Treslin_N; Treslin N-terminus