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Aliases for ATRIP Gene

Aliases for ATRIP Gene

  • ATR Interacting Protein 2 3 5
  • ATM And Rad3-Related-Interacting Protein 4
  • AGS1 4

External Ids for ATRIP Gene

Previous GeneCards Identifiers for ATRIP Gene

  • GC03U900864
  • GC03P048464
  • GC03P048465

Summaries for ATRIP Gene

Entrez Gene Summary for ATRIP Gene

  • 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]

GeneCards Summary for ATRIP Gene

ATRIP (ATR Interacting Protein) is a Protein Coding gene. Diseases associated with ATRIP include seckel syndrome and seckel syndrome 8. Among its related pathways are Gene Expression and Immune System. GO annotations related to this gene include nucleic acid binding and K63-linked polyubiquitin binding. An important paralog of this gene is ENSG00000282827.

UniProtKB/Swiss-Prot for ATRIP Gene

  • Required for checkpoint signaling after DNA damage. Required for ATR expression, possibly by stabilizing the protein.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATRIP Gene

Genomics for ATRIP Gene

Regulatory Elements for ATRIP Gene

Promoters for ATRIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATRIP on UCSC Golden Path with GeneCards custom track

Genomic Location for ATRIP Gene

Chromosome:
3
Start:
48,446,710 bp from pter
End:
48,465,716 bp from pter
Size:
19,007 bases
Orientation:
Plus strand

Genomic View for ATRIP Gene

Genes around ATRIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATRIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATRIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATRIP Gene

Proteins for ATRIP Gene

  • Protein details for ATRIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXE1-ATRIP_HUMAN
    Recommended name:
    ATR-interacting protein
    Protein Accession:
    Q8WXE1
    Secondary Accessions:
    • A8K6A3
    • A8K714
    • B2RCE7
    • B4DU92
    • B5MEB7
    • Q69YK9
    • Q8NHQ2
    • Q8WUG7
    • Q96CL3
    • Q9HA30

    Protein attributes for ATRIP Gene

    Size:
    791 amino acids
    Molecular mass:
    85838 Da
    Quaternary structure:
    • Interacts with ATR (By similarity). Heterodimer with ATR. The heterodimer binds the RPA complex and is then recruited to single-stranded DNA. Interacts with CEP164 (via N-terminus). Interacts with CINP.
    • Interacts with ATR (By similarity). Heterodimer with ATR. The heterodimer binds the RPA complex and is then recruited to single-stranded DNA. Interacts with CEP164 (via N-terminus). Interacts with CINP.
    SequenceCaution:
    • Sequence=BAB14029.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14029.1; Type=Frameshift; Positions=650; Evidence={ECO:0000305}; Sequence=BAF84257.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ATRIP Gene

    Alternative splice isoforms for ATRIP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATRIP Gene

Proteomics data for ATRIP Gene at MOPED

Post-translational modifications for ATRIP Gene

Other Protein References for ATRIP Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATRIP (ATRIP)

No data available for DME Specific Peptides for ATRIP Gene

Domains & Families for ATRIP Gene

Protein Domains for ATRIP Gene

ProtoNet:

Suggested Antigen Peptide Sequences for ATRIP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WXE1

UniProtKB/Swiss-Prot:

ATRIP_HUMAN :
  • The EEXXXDDL motif is required for the interaction with catalytic subunit PRKDC and its recruitment to sites of DNA damage.
  • Belongs to the ATRIP family.
Domain:
  • The EEXXXDDL motif is required for the interaction with catalytic subunit PRKDC and its recruitment to sites of DNA damage.
Family:
  • Belongs to the ATRIP family.
genes like me logo Genes that share domains with ATRIP: view

No data available for Gene Families for ATRIP Gene

Function for ATRIP Gene

Molecular function for ATRIP Gene

UniProtKB/Swiss-Prot Function:
Required for checkpoint signaling after DNA damage. Required for ATR expression, possibly by stabilizing the protein.

Phenotypes for ATRIP Gene

MGI mutant phenotypes for ATRIP:
inferred from 1 alleles
GenomeRNAi human phenotypes for ATRIP:
genes like me logo Genes that share phenotypes with ATRIP: view

Human Phenotype Ontology for ATRIP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATRIP Gene

MGI Knock Outs for ATRIP:

Animal Model Products

CRISPR Products

miRNA for ATRIP Gene

miRTarBase miRNAs that target ATRIP

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for ATRIP Gene

Localization for ATRIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATRIP Gene

Nucleus. Note=Redistributes to discrete nuclear foci upon DNA damage.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATRIP Gene COMPARTMENTS Subcellular localization image for ATRIP gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for ATRIP Gene

Pathways & Interactions for ATRIP Gene

genes like me logo Genes that share pathways with ATRIP: view

Pathways by source for ATRIP Gene

2 BioSystems pathways for ATRIP Gene
1 KEGG pathway for ATRIP Gene
1 GeneGo (Thomson Reuters) pathway for ATRIP Gene
1 Qiagen pathway for ATRIP Gene

SIGNOR curated interactions for ATRIP Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for ATRIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint TAS 14657349
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0006260 DNA replication TAS --
GO:0036297 interstrand cross-link repair TAS --
GO:1901796 regulation of signal transduction by p53 class mediator TAS --
genes like me logo Genes that share ontologies with ATRIP: view

Drugs & Compounds for ATRIP Gene

No Compound Related Data Available

Transcripts for ATRIP Gene

mRNA/cDNA for ATRIP Gene

(4) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATRIP Gene

ATR interacting protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATRIP Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c · 18d
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: - - - - -
SP5: - - -
SP6:
SP7:
SP8:
SP9: -
SP10: - -

Relevant External Links for ATRIP Gene

GeneLoc Exon Structure for
ATRIP
ECgene alternative splicing isoforms for
ATRIP

Expression for ATRIP Gene

mRNA expression in normal human tissues for ATRIP Gene

mRNA differential expression in normal tissues according to GTEx for ATRIP Gene

This gene is overexpressed in Testis (x4.4).

Protein differential expression in normal tissues from HIPED for ATRIP Gene

This gene is overexpressed in Plasma (29.1), Fetal testis (15.7), and CD4 Tcells (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATRIP Gene



SOURCE GeneReport for Unigene cluster for ATRIP Gene Hs.694840

mRNA Expression by UniProt/SwissProt for ATRIP Gene

Q8WXE1-ATRIP_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ATRIP: view

Protein tissue co-expression partners for ATRIP Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ATRIP Gene

Orthologs for ATRIP Gene

This gene was present in the common ancestor of chordates.

Orthologs for ATRIP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATRIP 35
  • 86.64 (n)
  • 83.08 (a)
ATRIP 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATRIP 35
  • 87.58 (n)
  • 84.66 (a)
ATRIP 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atrip 35
  • 81.46 (n)
  • 75.45 (a)
Atrip 16
Atrip 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATRIP 35
  • 99.71 (n)
  • 99.49 (a)
ATRIP 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atrip 35
  • 81.71 (n)
  • 74.87 (a)
oppossum
(Monodelphis domestica)
Mammalia ATRIP 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATRIP 36
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATRIP 35
  • 57.3 (n)
  • 48.06 (a)
ATRIP 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATRIP 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atrip 35
  • 53.58 (n)
  • 44.69 (a)
zebrafish
(Danio rerio)
Actinopterygii atrip 35
  • 49.51 (n)
  • 40.24 (a)
atrip 36
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 19 (a)
OneToOne
Species with no ortholog for ATRIP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATRIP Gene

ENSEMBL:
Gene Tree for ATRIP (if available)
TreeFam:
Gene Tree for ATRIP (if available)

Paralogs for ATRIP Gene

Paralogs for ATRIP Gene

Pseudogenes.org Pseudogenes for ATRIP Gene

genes like me logo Genes that share paralogs with ATRIP: view

Variants for ATRIP Gene

Sequence variations from dbSNP and Humsavar for ATRIP Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs11925638 - 48,450,162(+) AACTT(A/C)AAGAA reference, missense, utr-variant-5-prime
rs35240314 - 48,457,306(+) TTCTC(C/T)ACAAT reference, missense
rs730566 -- 48,445,644(-) CGTCA(G/T)ATAGC upstream-variant-2KB
rs744087 -- 48,459,874(+) TTCTG(A/C)GTCTC reference, missense
rs922075 -- 48,447,994(+) ctacc(A/G)gctgc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATRIP Gene

Variant ID Type Subtype PubMed ID
nsv834683 CNV Gain 17160897
nsv834684 CNV Gain 17160897
nsv508917 CNV Insertion 20534489
nsv876761 CNV Loss 21882294

Variation tolerance for ATRIP Gene

Residual Variation Intolerance Score: 22.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.86; 67.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATRIP Gene

HapMap Linkage Disequilibrium report
ATRIP
Human Gene Mutation Database (HGMD)
ATRIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATRIP Gene

Disorders for ATRIP Gene

MalaCards: The human disease database

(5) MalaCards diseases for ATRIP Gene - From: GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
seckel syndrome
  • bird-headed dwarfism
seckel syndrome 8
  • seckel syndrome type 8
meier-gorlin syndrome 1
  • meier-gorlin syndrome
primary autosomal recessive microcephalies and seckel syndrome spectrum disorders
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards
Search ATRIP in MalaCards View complete list of genes associated with diseases

Relevant External Links for ATRIP

Genetic Association Database (GAD)
ATRIP
Human Genome Epidemiology (HuGE) Navigator
ATRIP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATRIP
genes like me logo Genes that share disorders with ATRIP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATRIP Gene

Publications for ATRIP Gene

  1. ATR and ATRIP: partners in checkpoint signaling. (PMID: 11721054) Cortez D. … Elledge S.J. (Science 2001) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. PRP19 transforms into a sensor of RPA-ssDNA after DNA damage and drives ATR activation via a ubiquitin-mediated circuitry. (PMID: 24332808) Marechal A. … Zou L. (Mol. Cell 2014) 3
  5. SUMOylation of ATRIP potentiates DNA damage signaling by boosting multiple protein interactions in the ATR pathway. (PMID: 24990965) Wu C.S. … Zou L. (Genes Dev. 2014) 3

Products for ATRIP Gene

Sources for ATRIP Gene

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