Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84126
Gene name	ATR interacting protein
Gene symbol	ATRIP
Synonyms (NCBI Gene)	-
Chromosome	3
Chromosome location	3p21.31
Summary	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

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

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint signaling	IEA
GO:0000077	Process	DNA damage checkpoint signaling	TAS	14657349
GO:0005515	Function	Protein binding	IPI	14657349, 17686975, 19889979, 20616048, 20930849, 23144622, 25416956, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11721054
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006139	Process	Nucleobase-containing compound metabolic process	NAS	28036033
GO:0006281	Process	DNA repair	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0070310	Component	ATR-ATRIP complex	IEA
GO:0070310	Component	ATR-ATRIP complex	IPI	11721054
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IDA	24332808
GO:2000779	Process	Regulation of double-strand break repair	NAS	11721054

MIM	HGNC	e!Ensembl
606605	33499	ENSG00000164053

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

	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

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Microcephalic Primordial Dwarfism with immunodeficiency	Likely pathogenic; Pathogenic	rs2107215447	RCV004821303
Seckel syndrome	Likely pathogenic; Pathogenic	rs2107215447	RCV001375045

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs3135936, rs182766845	RCV005920004 RCV005928233
ATRIP-related disorder	Benign; Likely benign	rs3135937, rs3135938, rs36041404, rs368960700, rs142899473, rs112638898, rs34508594	RCV004758820 RCV003963638 RCV003970704 RCV003972939 RCV003958166 RCV003922844 RCV003922897
Cervical cancer	Benign	rs3135936	RCV005920006
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs182766845	RCV005928239
Familial cancer of breast	Benign	rs182766845	RCV005928232
Familial pancreatic carcinoma	Benign	rs182766845	RCV005928236
Gastric cancer	Benign	rs3135936	RCV005920008
Lung cancer	Benign; Uncertain significance	rs3135936, rs145758060	RCV005920012 RCV005926455
Lymphoma	Benign	rs3135936	RCV005920009
Malignant tumor of esophagus	Benign	rs3135936, rs182766845	RCV005920005 RCV005928234
Melanoma	Likely benign	rs139858543	RCV005934803
Ovarian cancer	Benign	rs182766845	RCV005928235
Ovarian serous cystadenocarcinoma	Benign	rs3135936, rs182766845	RCV005920010 RCV005928238
Sarcoma	Benign	rs3135936, rs182766845	RCV005920007 RCV005928237
Thymoma	Benign	rs3135936	RCV005920011
Uterine corpus endometrial carcinoma	Benign	rs3135936	RCV005920013

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia Telangiectasia	Associate	23144622
Breast Neoplasms	Associate	36977412
Graft vs Host Disease	Associate	36977412
Neoplasms	Associate	36977412, 37202753
Seckel syndrome 1	Associate	23144622

ATRIP (ATR interacting protein)