ATRIP (ATR interacting protein)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84126
Gene name Gene Name - the full gene name approved by the HGNC.
ATR interacting protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATRIP
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT022640 hsa-miR-124-3p Microarray 18668037
MIRT810382 hsa-miR-138 CLIP-seq
MIRT810383 hsa-miR-3074-5p CLIP-seq
MIRT810384 hsa-miR-370 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint IBA 21873635
GO:0000077 Process DNA damage checkpoint TAS 14657349
GO:0005515 Function Protein binding IPI 14657349, 17686975, 19889979, 20616048, 20930849, 23144622, 25416956
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606605 33499 ENSG00000164053
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8WXE1
Protein name ATR-interacting protein (ATM and Rad3-related-interacting protein)
Protein function Required for checkpoint signaling after DNA damage. Required for ATR expression, possibly by stabilizing the protein.
PDB 4IGK , 4NB3 , 5YZ0 , 7XV4
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11721054}.
Sequence 
MAGTSAPGSKRRSEPPAPRPGPPPGTGHPPSKRARGFSAAAAPDPDDPFGAHGDFTADDL
EELDTLASQALSQCPAAARDVSSDHKVHRLLDGMSKNPSGKNRETVPIKDNFELEVLQAQ
YKELKEKMKVMEEEVLIKNGEIKILRDSLHQTESVLEEQRRSHFLLEQEKTQALSDKEKE
FSKKLQSLQSELQFKDAEMNELRTKLQTSERANKLAAPSVSHVSPRKNPSVVIKPEACSP
QFGKTSFPTKESFSANMSLPHPCQTESGYKPLVGREDSKPHSLRGDSIKQEEAQKSFVDS
WRQRSNTQGSILINLLLKQPLIPGSSLSLCHLLSSSSESPAGTPLQPPGFGSTLAGMSGL
RTTGSYDGSFSLSALREAQNLAFTGLNLVARNECSRDGDPAEGGRRAFPLCQLPGAVHFL
PLVQFFIGLHCQALQDLAAAKRSGAPGDSPTHSSCVSSGVETNPEDSVCILEGFSVTALS
ILQHLVCHSGAVVSLLLSGVGADSAAGEGNRSLVHRLSDGDMTSALRGVADDQGQHPLLK
MLLHLLAFSSAATGHLQASVLTQCLKVLVKLAENTSCDFLPRFQCVFQVLPKCLSPETPL
PSVLLAVELLSLLADHDQLAPQLCSHSEGCLLLLLYMYITSRPDRVALETQWLQLEQEVV
WLLAKLGVQSPLPPVTGSNCQCNVEVVRALTVMLHRQWLTVRRAGGPPRTDQQRRTVRCL
RDTVLLLHGLSQKDKLFMMHCVEVLHQFDQVMPGVSMLIRGLPDVTDCEEAALDDLCAAE
TDVEDPEVECG
Sequence length 791
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Fanconi anemia pathway   Activation of ATR in response to replication stress
HDR through Single Strand Annealing (SSA)
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Fanconi Anemia Pathway
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (9)
Causal
Disease term Disease name dbSNP ID References
Aicardi goutieres syndrome AICARDI-GOUTIERES SYNDROME 1, AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT rs78635798, rs75184679, rs74555752, rs121434516, rs121434517, rs267607027, rs121434518, rs121434519, rs121434520, rs72556554, rs78218009, rs74556809, rs78408272, rs78846775, rs121908117
View all (95 more)		 24300241, 26938784, 18805785, 25848017, 17846997, 20871604, 27391121, 17293595, 21270825, 23602593, 25582466, 26182405, 16845398, 24183309, 26691497
View all (13 more)
Chilblain lupus erythematosus Chilblain lupus 1 rs1575292873, rs121908117 25582466, 17660820, 28750028, 25848017, 26691497, 18805785, 23989343, 23881107, 20799324, 21270825, 17846997, 27391121, 20131292, 26182405, 22829693
View all (7 more)
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Breast Cancer breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GenCC, CBGDA
Seckel Syndrome Seckel syndrome GenCC
Show/Hide Text Mining Associations (5)
Associations from Text Mining
Disease Name Relationship Type References
Ataxia Telangiectasia Associate 23144622
Breast Neoplasms Associate 36977412
Graft vs Host Disease Associate 36977412
Neoplasms Associate 36977412, 37202753
Seckel syndrome 1 Associate 23144622