ATRIP ATR interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATRIPprovided by HGNC
Official Full Name: ATR interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:33499
See related: Ensembl:ENSG00000164053 MIM:606605; AllianceGenome:HGNC:33499
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
Summary: This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
Annotation information: Note: GeneID 11277 was annotated as a single gene with two non-overlapping coding regions. GeneID 11277 now represents only the downstream coding region encoding three prime repair exonuclease 1. The upstream coding region is represented by geneID 84126. [29 May 2007]
Expression: Broad expression in testis (RPKM 11.6), thyroid (RPKM 3.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (48446737..48467645)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (48474745..48495650)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (48488141..48509044)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank.
Title: Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank.
ATRIP protects progenitor cells against DNA damage in vivo.
Title: ATRIP protects progenitor cells against DNA damage in vivo.
ATRIP deacetylation by SIRT2 promotes ATR-ATRIP binding to replication protein A-single-stranded DNA to drive ATR activation and thus facilitate recovery from replication stress.
Title: ATRIP Deacetylation by SIRT2 Drives ATR Checkpoint Activation by Promoting Binding to RPA-ssDNA.
ATRIP SUMOylation promotes ATR activation by providing a unique type of protein glue that boosts multiple protein interactions along the ATR pathway
Title: SUMOylation of ATRIP potentiates DNA damage signaling by boosting multiple protein interactions in the ATR pathway.
Data on crystal structure of BRCA1 binding with phosphopeptides suggest that C-terminal domain of BRCA1 interacts with ATRIP and BAAT1 with preferences for specific side chains; in ATRIP, phospho-Ser239 and Phe242 are the main interacting residues.
Title: Structural basis for the BRCA1 BRCT interaction with the proteins ATRIP and BAAT1.
Data indicate that ATRIP is a direct target gene of HIF-1, and the increased ATRIP then activates the ATR signaling pathway under hypoxia.
Title: HIF1-regulated ATRIP expression is required for hypoxia induced ATR activation.
our analysis exposes an overlapping clinical manifestation between the disorders but allows an expanded spectrum of clinical features for ATR-ATRIP Seckel Syndrome to be defined
Title: Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
as an ATR-associated kinase, Nek1 enhances the stability and activity of ATR-ATRIP before DNA damage, priming ATR-ATRIP for a robust DNA damage response
Title: Nek1 kinase associates with ATR-ATRIP and primes ATR for efficient DNA damage signaling.
ATRIP may function outside the context of the canonical ATR damage signaling pathway during HSV-1 infection to participate in the viral life cycle.
Title: ATR and ATRIP are recruited to herpes simplex virus type 1 replication compartments even though ATR signaling is disabled.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. EBI GWAS Catalog EBI GWAS CatalogPubMed
Joint influence of small-effect genetic variants on human longevity. 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-Z41083 (e-PCR)
- UniSTS:16802

WI-21042 (e-PCR)
- UniSTS:37556

Readthrough ATRIP-TREX1

Readthrough gene: ATRIP-TREX1, Included gene: TREX1

Clone Names

FLJ12343, MGC20625, MGC21482, MGC26740, DKFZp762J2115

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables K63-linked polyubiquitin modification-dependent protein 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 damage checkpoint signaling	TAS Traceable Author Statement more info	PubMed
involved_in DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleobase-containing compound metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of double-strand break repair	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of ATR-ATRIP complex	IPI Inferred from Physical Interaction 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	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: ATR-interacting protein

Names: ATM and Rad3-related-interacting 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.

Genomic

NG_041782.1 RefSeqGene

Range

5028..25936

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001271022.2 → NP_001257951.1 ATR-interacting protein isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks a portion of the 5' coding region, contains an alternate internal exon, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC134772, AK300548, BC030597

UniProtKB/TrEMBL

A0A0U1RQJ8

Related

ENSP00000489041.2, ENST00000634384.2

Conserved Domains (1) summary

pfam03938
Location:2 → 80

OmpH; Outer membrane protein (OmpH-like)
NM_001271023.2 → NP_001257952.1 ATR-interacting protein isoform 4

See identical proteins and their annotated locations for NP_001257952.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC134772, BC030597

Consensus CDS

CCDS59449.1

UniProtKB/TrEMBL

A0A0U1RQJ8

Related

ENSP00000400930.1, ENST00000412052.4

Conserved Domains (1) summary

cl09111
Location:20 → 114

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
NM_032166.4 → NP_115542.2 ATR-interacting protein isoform 2

See identical proteins and their annotated locations for NP_115542.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC134772, BC014153, DC402185

Consensus CDS

CCDS2767.1

Related

ENSP00000302338.5, ENST00000346691.9

Conserved Domains (1) summary

cl09111
Location:113 → 207

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
NM_130384.3 → NP_569055.1 ATR-interacting protein isoform 1

See identical proteins and their annotated locations for NP_569055.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC134772, AF451323, BC030597, CB960784, DC402185

Consensus CDS

CCDS2768.1

UniProtKB/Swiss-Prot

A8K6A3, A8K714, B2RCE7, B4DU92, B5MEB7, Q69YK9, Q8NHQ2, Q8WUG7, Q8WXE1, Q96CL3, Q9HA30

Related

ENSP00000323099.3, ENST00000320211.10

Conserved Domains (1) summary

pfam12718
Location:113 → 212

Tropomyosin_1; Tropomyosin like