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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 DNA Damage and DNA Double-Strand Break Repair. 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.

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

Regulatory Elements for ATRIP Gene

Enhancers for ATRIP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H048085 1.8 FANTOM5 ENCODE dbSUPER 57 -358.8 -358810 5.3 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 NFYC MEF2D SSRP1 ATRIP DHX30 ENSG00000235236 SETD2 ZNF589 PTPN23 TMEM89 KLHL18 ENSG00000260236 BOLA2P2
GH03H049016 1.4 ENCODE dbSUPER 36.2 +573.6 573551 6.8 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B YY1 WDR6 ENSG00000235236 NICN1 FCF1P2 QRICH1 RBM6 ZNF589 ENSG00000223343 P4HTM AMT
GH03H049005 1.4 ENCODE dbSUPER 33.7 +560.7 560669 3.1 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 WDR6 ATRIP QRICH1 USP19 CCDC36 ENSG00000225399 PRKAR2A IMPDH2 ENSG00000235236 ARIH2
GH03H048464 1.4 ENCODE dbSUPER 28.9 +23.4 23379 11.4 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 TMA7 ATRIP SHISA5 ENSG00000244380 CCDC51 PLXNB1 ENSG00000223343 COL7A1 PFKFB4 UCN2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATRIP on UCSC Golden Path with GeneCards custom track

Promoters for ATRIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152106 90 1201 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 ZNF207 SP3 SP5

Genomic Locations for ATRIP Gene

Genomic Locations for ATRIP Gene
19,007 bases
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:
    Recommended name:
    ATR-interacting protein
    Protein Accession:
    Secondary Accessions:
    • A8K6A3
    • A8K714
    • B2RCE7
    • B4DU92
    • B5MEB7
    • Q69YK9
    • Q8NHQ2
    • Q8WUG7
    • Q96CL3
    • Q9HA30

    Protein attributes for ATRIP Gene

    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.
    • 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


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
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for ATRIP Gene


Suggested Antigen Peptide Sequences for ATRIP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • 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.
  • 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.
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 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

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 --
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 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: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: - - -
SP9: -
SP10: - -

Relevant External Links for ATRIP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for ATRIP Gene:


mRNA Expression by UniProt/SwissProt for ATRIP Gene:

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
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
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
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • kidney
  • pelvis
  • penis
  • testicle
  • urethra
  • vagina
  • 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
  • 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
(Pan troglodytes)
Mammalia ATRIP 33 34
  • 99.71 (n)
(Canis familiaris)
Mammalia ATRIP 33 34
  • 87.58 (n)
(Bos Taurus)
Mammalia ATRIP 33 34
  • 86.64 (n)
(Rattus norvegicus)
Mammalia Atrip 33
  • 81.71 (n)
(Mus musculus)
Mammalia Atrip 33 16 34
  • 81.46 (n)
(Monodelphis domestica)
Mammalia ATRIP 34
  • 55 (a)
(Ornithorhynchus anatinus)
Mammalia ATRIP 34
  • 47 (a)
(Gallus gallus)
Aves ATRIP 33 34
  • 57.3 (n)
(Anolis carolinensis)
Reptilia ATRIP 34
  • 42 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atrip 33
  • 53.58 (n)
(Danio rerio)
Actinopterygii atrip 33 34
  • 49.51 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 19 (a)
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

Gene Tree for ATRIP (if available)
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 Sequence Context AA Info Type
rs148393533 Likely benign 48,465,821(+) TGGAA(C/T)TGTCC downstream-variant-500B, utr-variant-5-prime
rs886058621 Likely benign 48,465,826(+) TTGTC(-/C)TGAGT downstream-variant-500B, utr-variant-5-prime
rs377157141 Uncertain significance 48,466,049(+) GGCCC(C/T)GGTGC downstream-variant-500B, utr-variant-5-prime
rs587777856 Uncertain significance 48,465,053(+) TCATC(C/T)GAGGG upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime
rs767364235 Uncertain significance 48,466,137(+) GGGGG(A/G)ACGGA downstream-variant-500B, utr-variant-5-prime

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

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

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

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

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

Disorders for ATRIP Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATRIP Gene - From: HGMD, 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
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)
Human Genome Epidemiology (HuGE) Navigator
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 60
  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 45 60
  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 45 60
  4. Joint influence of small-effect genetic variants on human longevity. (PMID: 20834067) Yashin AI … Ukraintseva SV (Aging 2010) 3 45 60
  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 45 60

Products for ATRIP Gene

Sources for ATRIP Gene

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