ATRIP (ATR interacting protein)

Gene

• 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

miRNA

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)

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

Other IDs

• MIM: 606605
• HGNC: 33499
• e!Ensembl: ENSG00000164053

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
• 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

Pathways

KEGG:

Fanconi anemia pathway

Reactome:

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Microcephalic Primordial Dwarfism with immunodeficiency	Likely pathogenic; Pathogenic	rs2107215447	RCV004821303	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome	Likely pathogenic; Pathogenic	rs2107215447	RCV001375045	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIP-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILBLAIN LUPUS 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILBLAIN LUPUS ERYTHEMATOSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRION DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	10827106, 15908569, 16845398, 17357087		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME 1	Aicardi Goutieres Syndrome	CLINVAR_DG	16845398, 17293595, 17440703, 17660820, 17846997, 18805785, 20131292, 20799324, 20871604, 21270825, 21937424, 22829693, 23602593, 23881107, 23989343, 24183309, 24300241, 25138095, 25582466, 25604658, 25848017, 26182405, 26633545, 26691497, 26938784, 27391121, 28089741, 28750028		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT	Aicardi Goutieres Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	23144622	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	30304680		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36977412	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17616665		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG	26938784		★☆☆☆☆ Found in Text Mining only
Chilblain lupus 1	Chilblain Lupus Erythematosus	CLINVAR_DG	16845398, 17293595, 17440703, 17660820, 17846997, 18805785, 20131292, 20799324, 20871604, 21270825, 21937424, 22829693, 23881107, 23989343, 24300241, 25582466, 25848017, 26182405, 26691497, 27391121, 28089741, 28750028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic myeloproliferative disorder	Myeloproliferative disorder	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	36977412	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	8112600		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	8112600		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	29442041		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17616665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26585945		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	8112600		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	29442041		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	17616665		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26585945		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	23144622		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome	Seckel Syndrome	ORPHANET_DG	23144622		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome	Seckel Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome	Seckel Syndrome	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome 1	Seckel syndrome	Pubtator	23144622	Associate	★☆☆☆☆ Found in Text Mining only
Vasculopathy, Retinal, With Cerebral Leukodystrophy	Vasculopathy, Retinal, With Cerebral Leukodystrophy	CLINVAR_DG	16845398, 17293595, 17440703, 17660820, 17846997, 18805785, 20131292, 20799324, 20871604, 21270825, 21937424, 22829693, 23881107, 23989343, 24300241, 25582466, 25848017, 26182405, 26691497, 27391121, 28089741, 28750028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations