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ATRIP (ATR interacting protein)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84126
Gene nameGene Name - the full gene name approved by the HGNC.
ATR interacting protein
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ATRIP
SynonymsGene synonyms aliases
-
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
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.
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MAGTSAPGSKRRSEPPAPRPGPPPGTGHPPSKRARGFSAAAAPDPDDPFGAHGDFTADDL
EELDTLASQALSQCPAAARDVSSDHKVHRLLDGMSKNPSGKNRETVPIKDNFELEVLQAQ
YKELKEKMKVMEEEVLIKNGEIKILRDSLHQTESVLEEQRRSHFLLEQEKTQALSDKEKE
FSKKLQSLQSELQFKDAEMNELRTKLQTSERANKLAAPSVSHVSPRKNPSVVIKPEACSP
QFGKTSFPTKESFSANMSLPHPCQTESGYKPLVGREDSKPHSLRGDSIKQEEAQKSFVDS
WRQRSNTQGSILINLLLKQPLIPGSSLSLCHLLSSSSESPAGTPLQPPGFGSTLAGMSGL
RTTGSYDGSFSLSALREAQNLAFTGLNLVARNECSRDGDPAEGGRRAFPLCQLPGAVHFL
PLVQFFIGLHCQALQDLAAAKRSGAPGDSPTHSSCVSSGVETNPEDSVCILEGFSVTALS
ILQHLVCHSGAVVSLLLSGVGADSAAGEGNRSLVHRLSDGDMTSALRGVADDQGQHPLLK
MLLHLLAFSSAATGHLQASVLTQCLKVLVKLAENTSCDFLPRFQCVFQVLPKCLSPETPL
PSVLLAVELLSLLADHDQLAPQLCSHSEGCLLLLLYMYITSRPDRVALETQWLQLEQEVV
WLLAKLGVQSPLPPVTGSNCQCNVEVVRALTVMLHRQWLTVRRAGGPPRTDQQRRTVRCL
RDTVLLLHGLSQKDKLFMMHCVEVLHQFDQVMPGVSMLIRGLPDVTDCEEAALDDLCAAE
TDVEDPEVECG
Sequence length 791
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term 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, rs76857106, rs387906948, rs138603088, rs398122893, rs398122894, rs398122822, rs398122895, rs398122896, rs398122897, rs398122898, rs397515479, rs75718910, rs397515480, rs77103971, rs149846637, rs74689946, rs77371662, rs74876396, rs78762691, rs76642637, rs78300695, rs79318303, rs369587937, rs515726141, rs369035155, rs515726146, rs768943773, rs587777445, rs587777446, rs587777447, rs587777448, rs672601336, rs587777449, rs587777575, rs587777576, rs376048533, rs786205483, rs200773268, rs760594164, rs748914604, rs184953805, rs777313709, rs753679297, rs367915667, rs1553207540, rs779357448, rs1555257383, rs774964432, rs372632599, rs75186889, rs1452451283, rs1568762986, rs1303667371, rs1575293518, rs768724007, rs1559810905, rs549586181, rs781284373, rs1571046959, rs75325951, rs79310911, rs768409471, rs1219206348, rs1335417539, rs1601144527, rs752442185, rs1593470515, rs77301371, rs1571110158, rs1575295176, rs768019897, rs1601141002, rs1576219706, rs138373022, rs1576222015, rs765887304, rs1238832404, rs774958328, rs1576222803, rs1576222845, rs201472224, rs1576224269, rs753599401, rs1576226604, rs753383954, rs1576226728, rs1576227162, rs1576229572, rs1180888940, rs1331920811, rs769561543, rs2063480012, rs1300333132, rs1442728513, rs1951857498 24300241, 26938784, 18805785, 25848017, 17846997, 20871604, 27391121, 17293595, 21270825, 23602593, 25582466, 26182405, 16845398, 24183309, 26691497, 23881107, 17440703, 17660820, 23989343, 25604658, 28750028, 26633545, 28089741, 20131292, 21937424, 20799324, 22829693, 25138095
Chilblain lupus erythematosus Chilblain lupus 1 rs1575292873, rs121908117 25582466, 17660820, 28750028, 25848017, 26691497, 18805785, 23989343, 23881107, 20799324, 21270825, 17846997, 27391121, 20131292, 26182405, 22829693, 17293595, 21937424, 16845398, 17440703, 20871604, 28089741, 24300241
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Unknown
Disease name Disease term dbSNP ID References
Camptodactyly of fingers Clinodactyly of the 5th finger
Cerebellar hypoplasia Cerebellar Hypoplasia 26938784
Dwarfism Dwarfism
Impaired cognition Impaired cognition

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