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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 Meier-Gorlin Syndrome 1. Among its related pathways are Homologous DNA Pairing and Strand Exchange and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and K63-linked polyubiquitin modification-dependent protein 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.

Additional gene information for ATRIP Gene

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

Genomics for ATRIP Gene

GeneHancer (GH) Regulatory Elements for ATRIP Gene

Promoters and enhancers for ATRIP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I048445 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 567.7 +0.1 81 2.6 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B ZNF207 ZNF143 ZNF263 ATRIP ENSG00000282827 ENSG00000244380 TMA7
GH03I048085 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 67.3 -358.8 -358809 5.3 CLOCK FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF263 MAP4 ATRIP DHX30 ZNF589 ENSG00000235236 SETD2 PTPN23 TMEM89 KLHL18 ENSG00000260236
GH03I049005 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 44 +560.7 560669 3.1 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 WDR6 ATRIP QRICH1 USP19 CCDC36 ENSG00000225399 PRKAR2A IMPDH2 ENSG00000235236 ARIH2
GH03I048464 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 38.5 +23.4 23379 11.4 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SHISA5 TREX1 TMA7 ATRIP NME6 QRICH1 USP19 MRPS18AP1 TMEM89 RHOA-IT1
GH03I049338 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 29.4 +899.3 899340 14.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A USP4 AMT QRICH1 ENSG00000235236 RBM6 ATRIP RBM5 WDR6 IP6K2 ENSG00000230454
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATRIP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATRIP gene promoter:

Genomic Locations for ATRIP Gene

Genomic Locations for ATRIP Gene
chr3:48,446,710-48,465,716
(GRCh38/hg38)
Size:
19,007 bases
Orientation:
Plus strand
chr3:48,488,114-48,507,115
(GRCh37/hg19)

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.
    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

Post-translational modifications for ATRIP Gene

No data available for DME Specific Peptides for ATRIP Gene

Domains & Families for ATRIP Gene

Gene Families for ATRIP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ATRIP Gene

InterPro:
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

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 From GWAS Catalog for ATRIP Gene

Gene Ontology (GO) - Molecular Function for ATRIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004527 exonuclease activity IEA --
GO:0005515 protein binding IPI 14657349
GO:0070530 K63-linked polyubiquitin modification-dependent protein binding IDA 24332808
genes like me logo Genes that share ontologies with ATRIP: view

Phenotypes for ATRIP Gene

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:

miRNA for ATRIP Gene

miRTarBase miRNAs that target ATRIP

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATRIP gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATRIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with ATRIP: view

Pathways & Interactions for ATRIP Gene

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

Pathways by source for ATRIP Gene

1 GeneGo (Thomson Reuters) pathway for ATRIP Gene
1 Qiagen pathway for ATRIP Gene
1 Cell Signaling Technology 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:0006260 DNA replication TAS --
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0036297 interstrand cross-link repair 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 :
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATRIP Gene

ATR interacting protein:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ATRIP Gene



Protein tissue co-expression partners for ATRIP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATRIP Gene:

ATRIP

SOURCE GeneReport for Unigene cluster for ATRIP Gene:

Hs.694840

mRNA Expression by UniProt/SwissProt for ATRIP Gene:

Q8WXE1-ATRIP_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ATRIP Gene

  • Heart(4.2)
  • Intestine(4.2)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATRIP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • penis
  • testicle
  • urethra
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ATRIP: view

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
chimpanzee
(Pan troglodytes)
Mammalia ATRIP 33 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia ATRIP 33 34
  • 87.58 (n)
cow
(Bos Taurus)
Mammalia ATRIP 33 34
  • 86.64 (n)
rat
(Rattus norvegicus)
Mammalia Atrip 33
  • 81.71 (n)
mouse
(Mus musculus)
Mammalia Atrip 33 16 34
  • 81.46 (n)
oppossum
(Monodelphis domestica)
Mammalia ATRIP 34
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATRIP 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATRIP 33 34
  • 57.3 (n)
lizard
(Anolis carolinensis)
Reptilia ATRIP 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atrip 33
  • 53.58 (n)
zebrafish
(Danio rerio)
Actinopterygii atrip 33 34
  • 49.51 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 19 (a)
OneToOne
Species where no ortholog for ATRIP was found in the sources mined by GeneCards:
  • 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

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 Variation AA Info Type
rs148393533 likely-benign, Vasculopathy, retinal, with cerebral leukodystrophy, Aicardi Goutieres syndrome 48,465,821(+) T/C downstream_transcript_variant
rs3135939 likely-benign, Vasculopathy, retinal, with cerebral leukodystrophy, Aicardi Goutieres syndrome 48,465,825(+) CC/C downstream_transcript_variant
rs377157141 uncertain-significance, Aicardi Goutieres syndrome, Vasculopathy, retinal, with cerebral leukodystrophy 48,466,049(+) C/T downstream_transcript_variant
rs767364235 uncertain-significance, Aicardi Goutieres syndrome, Vasculopathy, retinal, with cerebral leukodystrophy 48,466,137(+) A/G downstream_transcript_variant
rs948159545 uncertain-significance, Vasculopathy, retinal, with cerebral leukodystrophy, Aicardi Goutieres syndrome 48,466,130(+) G/A/C/T downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv8315n54 CNV loss 21841781
nsv508917 CNV insertion 20534489
nsv590242 CNV loss 21841781
nsv834683 CNV gain 17160897
nsv834684 CNV gain 17160897

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)

Additional Variant Information for ATRIP Gene

Human Gene Mutation Database (HGMD)
ATRIP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATRIP

SNP Genotyping and Copy Number Assay Products

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

Disorders for ATRIP Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATRIP Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ATRIP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ATRIP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SJ (Science (New York, N.Y.) 2001) 2 3 4 58
  2. Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. (PMID: 22210626) Mead S … Collinge J (Human molecular genetics 2012) 3 44 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Joint influence of small-effect genetic variants on human longevity. (PMID: 20834067) Yashin AI … Ukraintseva SV (Aging 2010) 3 44 58
  5. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PMID: 18950845) Vega A … Carracedo A (Gynecologic oncology 2009) 3 44 58

Products for ATRIP Gene

Sources for ATRIP Gene

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