{ "uniprot_canonical_ac": "P47941-1", "uniprot_ac": "P47941", "uniprot_id": "CRKL_MOUSE", "mass": { "chemical_mass": 33830.0, "monoisotopic_mass": 33830.0 }, "refseq": { "ac": "NP_001264160", "name": "crk-like protein isoform 2", "summary": "This gene is part of a family of adapter proteins that mediate formation of signal transduction complexes in response to extracellular stimuli, such as growth and differentiation factors. Protein-protein interactions occur through the SH2 domain, which binds phosphorylated tyrosine residues, and the SH3 domain, which binds proline-rich peptide motifs. These interactions promote recruitment and activation of effector proteins to regulate cell migration, adhesion, and proliferation. In certain mouse genetic backgrounds this protein is essential for embryonic development. It is important for neural crest cell differentiation and survival and is proposed to play an important role in transducing the oncogenic signal of Bcr/Abl. Deletion of this gene in mouse mimics the phenotype of DiGeorge/velocardiofacial syndrome in human. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Mar 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264160" }, "gene_names": [ { "name": "Crkl", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P47941", "id": "P47941" }, { "name": "1110025F07Rik; Crkol; snoop", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264160", "id": "NP_001264160" }, { "name": "Crkl", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264160", "id": "NP_001264160" }, { "name": "Crkol", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P47941", "id": "P47941" } ], "protein_names": [ { "name": "Crk-like protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P47941" }, { "name": "crk-like protein isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264160", "id": "NP_001264160" }, { "name": "crk-like protein; v-crk sarcoma virus CT10 oncogene homolog-like", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264160", "id": "NP_001264160" } ], "function": [ { "annotation": "Crk and Crkl Are Required in the Endocardial Lineage for Heart Valve Development.", "evidence": [ { "database": "RefSeq", "id": "NP_001264160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264160" }, { "database": "PubMed", "id": "37702066", "url": "https://glygen.org/publication/PubMed/37702066" } ] }, { "annotation": "Crkol is essential for cranial and cardiac neural crest development. The chromosomal location of the human CRKL gene (22q11.21) and the phenotype of Crkol mutant mice suggest that defects in CRKL-mediated pathways underlie DiGeorge syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001264160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264160" }, { "database": "PubMed", "id": "11242111", "url": "https://glygen.org/publication/PubMed/11242111" } ] }, { "annotation": "May mediate the transduction of intracellular signals.", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941#function" } ] }, { "annotation": "MiR-145 regulates steroidogenesis in mouse primary granulosa cells through targeting Crkl.", "evidence": [ { "database": "RefSeq", "id": "NP_001264160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264160" }, { "database": "PubMed", "id": "34273377", "url": "https://glygen.org/publication/PubMed/34273377" } ] }, { "annotation": "This gene is part of a family of adapter proteins that mediate formation of signal transduction complexes in response to extracellular stimuli, such as growth and differentiation factors. Protein-protein interactions occur through the SH2 domain, which binds phosphorylated tyrosine residues, and the SH3 domain, which binds proline-rich peptide motifs. These interactions promote recruitment and activation of effector proteins to regulate cell migration, adhesion, and proliferation. In certain mouse genetic backgrounds this protein is essential for embryonic development. It is important for neural crest cell differentiation and survival and is proposed to play an important role in transducing the oncogenic signal of Bcr/Abl. Deletion of this gene in mouse mimics the phenotype of DiGeorge/velocardiofacial syndrome in human. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Mar 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001264160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264160" } ] } ], "disease": [ { "disease_id": "DOID:10286", "recommended_name": { "id": "DOID:10286", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:10286", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10286", "name": "cancer of prostate", "description": "" }, { "id": "DOID:10286", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10286", "name": "carcinoma of prostate", "description": "" } ], "evidence": [ { "id": "10286", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ] }, { "disease_id": "DOID:11198", "recommended_name": { "id": "DOID:11198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11198", "name": "DiGeorge syndrome", "description": "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production." }, "synonyms": [ { "id": "DOID:11198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11198", "name": "22q11.2 deletion syndrome", "description": "" }, { "id": "DOID:11198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11198", "name": "DiGeorge sequence", "description": "" }, { "id": "DOID:11198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11198", "name": "DiGeorge's syndrome", "description": "" }, { "id": "DOID:11198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11198", "name": "Pharyngeal pouch syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DiGeorge syndrome", "description": "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "22q deletion syndrome(s)", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "22q11.2 Deletion syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DGS", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DGS1", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "Di-George syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DiGeorge anomaly", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DiGeorge syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DiGeorge syndrome type 1", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DiGeorge's syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "pharyngeal pouch syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "Shprintzen syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "Sphrintzen", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "Catch22", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DiGeorge syndrome chromosome region", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "Takao VCF syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "VCF", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "chromosome 22Q11.2 deletion syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "hypoplasia of thymus and parathyroids", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "third and fourth pharyngeal pouch syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "velo-cardio-facial syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "velocardiofacial syndrome", "description": "" }, { "id": "MIM:188400", "resource": "MIM", "url": "https://www.omim.org/entry/188400", "name": "DiGeorge syndrome", "description": "DiGeorge syndrome" } ], "evidence": [ { "id": "11198", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11198" } ] }, { "disease_id": "DOID:12583", "recommended_name": { "id": "DOID:12583", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12583", "name": "velocardiofacial syndrome", "description": "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations." }, "synonyms": [ { "id": "DOID:12583", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12583", "name": "Shprintzen syndrome", "description": "" }, { "id": "DOID:12583", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12583", "name": "VCF-Velocardiofacial syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "velocardiofacial syndrome", "description": "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features." }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "22q11 deletion syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "Shprintzen VCF syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "VCF syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "VCF-velocardiofacial syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "deletion 22q11.2 syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "velocardiofacial syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "Shprintzen syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "chromosome 22Q11.2 deletion syndrome", "description": "" }, { "id": "MIM:192430", "resource": "MIM", "url": "https://www.omim.org/entry/192430", "name": "Velocardiofacial syndrome", "description": "Velocardiofacial syndrome" } ], "evidence": [ { "id": "12583", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12583" } ] }, { "disease_id": "DOID:1520", "recommended_name": { "id": "DOID:1520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:1520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1520", "name": "Colonic carcinoma", "description": "" }, { "id": "DOID:1520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1520", "name": "carcinoma of colon", "description": "" } ], "evidence": [ { "id": "1520", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "evidence": [ { "id": "2394", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:3008", "recommended_name": { "id": "DOID:3008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated." }, "synonyms": [ { "id": "DOID:3008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3008", "name": "Infiltrating ductal carcinoma of breast", "description": "" }, { "id": "DOID:3008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3008", "name": "Invasive ductal carcinoma, NST", "description": "" }, { "id": "DOID:3008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3008", "name": "ductal adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3008", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ] }, { "disease_id": "DOID:3905", "recommended_name": { "id": "DOID:3905", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis." }, "synonyms": [ { "id": "DOID:3905", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3905", "name": "cancer of lung", "description": "" } ], "evidence": [ { "id": "3905", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "evidence": [ { "id": "4159", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:8552", "recommended_name": { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells." }, "synonyms": [ { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "CML", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "CML - chronic Myelogenous Leukemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "Myeloid Leukemia, chronic", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic granulocytic leukaemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic granulocytic leukemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myelogenous leukaemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myelogenous leukemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myeloid leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia, BCR-ABL1 positive", "description": "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "BCR-ABL Positive chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "BCR-ABL Positive chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "CML", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "CML - chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "CML - chronic myelogenous leukemia", "description": "" }, { 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"id": "ENSMUST00000231228.2", "url": "https://www.ensembl.org/id/ENSMUST00000231228.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000155860.2", "url": "https://www.ensembl.org/id/ENSMUSP00000155860.2" } ] } }, { "isoform_ac": "A0A338P6Q0-1", "url": "", "sequence": { "sequence": "MSSARFDSSDRSAWYMGPVTRQEAQTRLQGQRHGMFLVRDSSTCPGDYVLSVSENSRVSHYIINSLPNRRFKIGDQEFDHLPALLEFYKIHYLDTTTLIEPAPRLVTL", "length": 108, "header": "tr|A0A338P6Q0-1|A0A338P6Q0_MOUSE Computationally mapped isoform of V-crk avian sarcoma virus CT10 oncogene homolog-like OS=Mus musculus OX=10090 GN=Crkl PE=1 SV=1 CANONICAL=P47941-1" }, "locus": { "chromosome": "16", "start_pos": 17301537, "end_pos": 17270342, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000231629.2", "url": "https://www.ensembl.org/id/ENSMUST00000231629.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000156063.2", "url": "https://www.ensembl.org/id/ENSMUSP00000156063.2" } ] } }, { "isoform_ac": "P47941-1", "url": "", "sequence": { "sequence": "MSSARFDSSDRSAWYMGPVTRQEAQTRLQGQRHGMFLVRDSSTCPGDYVLSVSENSRVSHYIINSLPNRRFKIGDQEFDHLPALLEFYKIHYLDTTTLIEPAPRYPSPPVGSVSAPNLPTAEENLEYVRTLYDFPGNDAEDLPFKKGELLVIIEKPEEQWWSARNKDGRVGMIPVPYVEKLVRSSPHGKHGNRNSNSYGIPEPAHAYAQPQTTTPLPTVASTPGAAINPLPSTQNGPVFAKAIQKRVPCAYDKTALALEVGDIVKVTRMNINGQWEGEVNGRKGLFPFTHVKIFDPQNPDDNE", "length": 303, "header": "sp|P47941-1|CRKL_MOUSE Isoform 1 of Crk-like protein OS=Mus musculus OX=10090 GN=Crkl PE=1 SV=2 CANONICAL=P47941-1" }, "locus": { "chromosome": "16", "start_pos": 17301656, "end_pos": 17270342, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000006293", "url": "https://www.ensembl.org/id/ENSMUST00000006293" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000006293", "url": "https://www.ensembl.org/id/ENSMUSP00000006293" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P47941", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P47941" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" } ] } ], "phosphorylation": [ { "start_pos": 107, "end_pos": 107, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P47941", "url": "http://phospho.elm.eu.org/byAccession/P47941.html" }, { "database": "iPTMnet", "id": "P47941", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P47941" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" } ], "site_lbl": "Ser107" }, { "start_pos": 127, "end_pos": 127, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "site_lbl": "Tyr127" }, { "start_pos": 207, "end_pos": 207, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" }, { "database": "iPTMnet", "id": "P47941", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P47941" }, { "database": "PubMed", "id": "9053848", "url": "https://glygen.org/publication/PubMed/9053848" } ], "site_lbl": "Tyr207" }, { "start_pos": 251, "end_pos": 251, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P47941", "url": "http://phospho.elm.eu.org/byAccession/P47941.html" }, { "database": "iPTMnet", "id": "P47941", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P47941" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ], "site_lbl": "Tyr251" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "SHIP1, an SH2 domain containing polyinositol-5-phosphatase, regulates migration through two critical tyrosine residues and forms a novel signaling complex with DOK1 and CRKL.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Sattler M, Verma S, Pride YB, Salgia R, Rohrschneider LR, Griffin JD", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "reference": [ { "type": "PubMed", "id": "11031258", "url": "https://glygen.org/publication/PubMed/11031258" } ] }, { "title": "Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.", "journal": "Nature genetics", "date": "2001", "authors": "Guris DL, Fantes J, Tara D, Druker BJ, Imamoto A", "evidence": [ { "database": "RefSeq", "id": "NP_001264160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264160" } ], "reference": [ { "type": "PubMed", "id": "11242111", "url": "https://glygen.org/publication/PubMed/11242111" } ] }, { "title": "Phosphoproteomic analysis of the developing mouse brain.", "journal": "Mol. Cell. Proteomics", "date": "2004", "authors": "Ballif BA, Villen J, Beausoleil SA, Schwartz D, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" }, { "database": "UniProtKB", "id": "A0A338P675", "url": "https://www.uniprot.org/uniprot/A0A338P675" }, { "database": "iPTMnet", "id": "P47941", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P47941" } ], "reference": [ { "type": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P47941", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P47941" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "title": "Large-scale identification and evolution indexing of tyrosine phosphorylation sites from murine brain.", "journal": "J. Proteome Res.", "date": "2008", "authors": "Ballif BA, Carey GR, Sunyaev SR, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" }, { "database": "UniProtKB", "id": "A0A338P675", "url": "https://www.uniprot.org/uniprot/A0A338P675" } ], "reference": [ { "type": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" } ] }, { "title": "Chemical reporters for fluorescent detection and identification of O-GlcNAc-modified proteins reveal glycosylation of the ubiquitin ligase NEDD4-1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Zaro BW, Yang YY, Hang HC, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "P47941", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P47941" } ], "reference": [ { "type": "PubMed", "id": "21540332", "url": "https://glygen.org/publication/PubMed/21540332" } ] }, { "title": "MiR-145 regulates steroidogenesis in mouse primary granulosa cells through targeting Crkl.", "journal": "Life sciences", "date": "2021", "authors": "Wang S, Tang W, Ma L, Yang J, Huang K, Du X, Luo A, Shen W, Ding T, Ye S, Zhou S, Yang S, Wang S", "evidence": [ { "database": "RefSeq", "id": "NP_001264160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264160" } ], "reference": [ { "type": "PubMed", "id": "34273377", "url": "https://glygen.org/publication/PubMed/34273377" } ] }, { "title": "Crk and Crkl Are Required in the Endocardial Lineage for Heart Valve Development.", "journal": "Journal of the American Heart Association", "date": "2023-09-19", "authors": "Wu Bingruo, Wu Brian, Benkaci Sonia, Shi Lijie, Lu Pengfei, Park Taeju, Morrow Bernice E, Wang Yidong, Zhou Bin", "evidence": [ { "database": "RefSeq", "id": "NP_001264160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264160" } ], "reference": [ { "type": "PubMed", "id": "37702066", "url": "https://glygen.org/publication/PubMed/37702066" } ] }, { "title": "Tyrosine phosphorylation of murine Crkl.", "journal": "Oncogene", "date": "1995", "authors": "de Jong R, Haataja L, Voncken JW, Heisterkamp N, Groffen J", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "reference": [ { "type": "PubMed", "id": "7478571", "url": "https://glygen.org/publication/PubMed/7478571" } ] }, { "title": "Tyrosine 207 in CRKL is the BCR/ABL phosphorylation site.", "journal": "Oncogene", "date": "1997", "authors": "de Jong R, ten Hoeve J, Heisterkamp N, Groffen J", "evidence": [ { "database": "iPTMnet", "id": "P47941", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P47941" } ], "reference": [ { "type": "PubMed", "id": "9053848", "url": "https://glygen.org/publication/PubMed/9053848" } ] } ], "pathway": [ { "id": "mmu:12929", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:12929", "resource": 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} ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" 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"name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "T cell receptor 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"https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "regulation of leukocyte migration", "id": "GO:0002685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002685", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "B cell apoptotic process", "id": "GO:0001783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001783", "evidence": [ { "database": "UniProtKB", "id": "P47941", "url": "https://www.uniprot.org/uniprot/P47941" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": 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