{ "uniprot_canonical_ac": "Q7Z7B0-1", "uniprot_ac": "Q7Z7B0", "uniprot_id": "FLIP1_HUMAN", "mass": { "chemical_mass": 138109.0, "monoisotopic_mass": 138109.0 }, "refseq": { "ac": "NP_001276916", "name": "filamin-A-interacting protein 1 isoform 1", "summary": "This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916" }, "gene_names": [ { "name": "FILIP1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q7Z7B0", "id": "Q7Z7B0" }, { "name": "FILIP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916", "id": "NP_001276916" }, { "name": "FILIP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916", "id": "NP_001276916" }, { "name": "KIAA1275", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q7Z7B0", "id": "Q7Z7B0" }, { "name": "hCG_17988", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q7Z7B0", "id": "Q7Z7B0" } ], "protein_names": [ { "name": "Filamin-A-interacting protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q7Z7B0" }, { "name": "FILIP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q7Z7B0" }, { "name": "filamin-A-interacting protein 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916", "id": "NP_001276916" } ], "function": [ { "annotation": "By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A.", "evidence": [ { "database": "UniProtKB", "id": "Q7Z7B0", "url": "https://www.uniprot.org/uniprot/Q7Z7B0#function" }, { "database": "UniProtKB", "id": "Q8K4T4", "url": "https://www.uniprot.org/uniprot/Q8K4T4#function" } ] }, { "annotation": "Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001276916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916" }, { "database": "PubMed", "id": "34000624", "url": "https://glygen.org/publication/PubMed/34000624" } ] }, { "annotation": "Data show that RhoD binds the actin nucleation-promoting factor WHAMM (WASp homologue associated with actin Golgi membranes and microtubules), as well as the related filamin A-binding protein FILIP1.", "evidence": [ { "database": "RefSeq", "id": "NP_001276916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916" }, { "database": "PubMed", "id": "23087206", "url": "https://glygen.org/publication/PubMed/23087206" } ] }, { "annotation": "Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.", "evidence": [ { "database": "RefSeq", "id": "NP_001276916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916" }, { "database": "PubMed", "id": "36943452", "url": "https://glygen.org/publication/PubMed/36943452" } ] }, { "annotation": "This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001276916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs199738513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199738513" }, { "id": "rs199738513", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199738513" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1058, "end_pos": 1058, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "6", "chr_pos": "75312659", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1058", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368516482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368516482" }, { "id": "rs368516482", "database": "ExAC", 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"http://gnomad.broadinstitute.org/awesome?query=rs142674783" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1124, "end_pos": 1124, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "6", "chr_pos": "75312460", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs866402503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866402503" }, { "id": "rs866402503", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs866402503#frequency_tab" }, { "id": "rs866402503", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs866402503" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1130, "end_pos": 1130, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 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mutation passed 1 out of 6 filters: num. of cancers (6).", "chr_id": "6", "chr_pos": "75313701", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R711", "disease": [ { "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": 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine 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"http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { 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}, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q7Z7B0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q7Z7B0" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q7Z7B0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q7Z7B0" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q7Z7B0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q7Z7B0" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z7B0", "url": "https://www.uniprot.org/uniprot/Q7Z7B0" } ], "common_name": "Human" } ], "gene": [ { "name": "FILIP1", "url": "https://www.uniprot.org/uniprot/Q7Z7B0", "locus": { "chromosome": "6", "start_pos": 75291859, "end_pos": 75493800, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000118407", "url": "https://www.ensembl.org/id/ENSG00000118407" } ] } } ], "crossref": [ { "id": "ENSG00000118407", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118407", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q7Z7B0", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q7Z7B0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "FILIP1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FILIP1", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "27145", "url": "https://www.ncbi.nlm.nih.gov/gene/27145", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "21015", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=21015", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q7Z7B0", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q7Z7B0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR019131", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019131", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:27145", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27145", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "607307", "url": "http://www.omim.org/entry/607307", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q7Z7B0", "url": "https://www.nextprot.org/entry/NX_Q7Z7B0", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q7Z7B0", "url": "https://oglcnac.org/atlas/detail/Q7Z7B0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q7Z7B0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z7B0", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "ITHEKGP", "url": "https://omabrowser.org/oma/group/ITHEKGP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5313111at2759", "url": "http://www.orthodb.org/?query=5313111at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23166", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23166", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23166:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23166:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF09727", "url": "http://pfam.xfam.org/family/PF09727", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q7Z7B0", "url": "https://pharos.nih.gov/targets/Q7Z7B0", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q7Z7B0", "url": "http://purl.obolibrary.org/obo/PR_Q7Z7B0", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001276916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A075B6G6", "url": "https://www.uniprot.org/uniprot/A0A075B6G6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A075B6G6-1", "url": "https://www.uniprot.org/uniprot/A0A075B6G6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7Z7B0", "url": "https://www.uniprot.org/uniprot/Q7Z7B0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7Z7B0-1", "url": "https://www.uniprot.org/uniprot/Q7Z7B0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7Z7B0-2", "url": "https://www.uniprot.org/uniprot/Q7Z7B0-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7Z7B0-3", "url": "https://www.uniprot.org/uniprot/Q7Z7B0-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRSRNQGGESASDGHISCPKPSIIGNAGEKSLSEDAKKKKKSNRKEDDVMASGTVKRHLKTSGECERKTKKSLELSKEDLIQLLSIMEGELQAREDVIHMLKTEKTKPEVLEAHYGSAEPEKVLRVLHRDAILAQEKSIGEDVYEKPISELDRLEEKQKETYRRMLEQLLLAEKCHRRTVYELENEKHKHTDYMNKSDDFTNLLEQERERLKKLLEQEKAYQARKEKENAKRLNKLRDELVKLKSFALMLVDERQMHIEQLGLQSQKVQDLTQKLREEEEKLKAITSKSKEDRQKLLKLEVDFEHKASRFSQEHEEMNAKLANQESHNRQLRLKLVGLTQRIEELEETNKNLQKAEEELQELRDKIAKGECGNSSLMAEVENLRKRVLEMEGKDEEITKTESQCRELRKKLQEEEHHSKELRLEVEKLQKRMSELEKLEEAFSKSKSECTQLHLNLEKEKNLTKDLLNELEVVKSRVKELECSESRLEKAELSLKDDLTKLKSFTVMLVDERKNMMEKIKQEERKVDGLNKNFKVEQGKVMDVTEKLIEESKKLLKLKSEMEEKVYNLTRERDELIGKLKSEEEKSSELSCSVDLLKKRLDGIEEVEREITRGRSRKGSELTCPEDNKIKELTLEIERLKKRLQQLEVVEGDLMKTEDEYDQLEQKFRTEQDKANFLSQQLEEIKHQIAKNKAIEKGEVVSQEAELRHRFRLEEAKSRDLKAEVQALKEKIHELMNKEDQLSQLQVDYSVLQQRFMEEENKNKNMGQEVLNLTKELELSKRYSRALRPSVNGRRMVDVPVTSTGVQTDAVSGEAAEEETPAVFIRKSFQEENHIMSNLRQVGLKKPVERSSVLDRYPPAANELTMRKSWIPWMRKRENGPSITQEKGPRTNSSPGHPGEVVLSPKQGQPLHIRVTPDHENSTATLEITSPTSEEFFSSTTVIPTLGNQKPRITIIPSPNVMPQKQKSGDTTLGPERAMSPVTITTFSREKTPESGRGAFADRPTSPIQIMTVSTSAAPAEIAVSPESQEMPMGRTILKVTPEKQTVPTPVRKYNSNANIITTEDNKIHIHLGSQFKRSPGTSGEGVSPVITVRPVNVTAEKEVSTGTVLRSPRNHLSSRPGASKVTSTITITPVTTSSARGTQSVSGQDGSSQRPTPTRIPMSKGMKAGKPVVAAPGAGNLTKFEPRAETQSMKIELKKSAASSTTSLGGGKG", "length": 1213, "header": "sp|Q7Z7B0-1|FLIP1_HUMAN Isoform 1 of Filamin-A-interacting protein 1 OS=Homo sapiens OX=9606 GN=FILIP1 PE=1 SV=1 CANONICAL=Q7Z7B0-1" }, "isoforms": [ { "isoform_ac": "A0A075B6G6-1", "url": "", "sequence": { "sequence": "MLKTEKTKPEVLEAHYGSAEPEKVLRVLHRDAILAQEKSIGEDVYEKPISELDRLEEKQKETYRRMLEQLLLAEKCHRRTVYELENEKHKHTDYMNKSDDFTNLLEQERERLKKLLEQEKAYQARKEKENAKRLNKLRDELVKLKSFALMLVDERQMHIEQLGLQSQKVQDLTQKLREEEEKLKAITSKSKEDRQKLLKLEVDFEHKASRFSQEHEEMNAKLANQESHNRQLRLKLVGLTQRIEELEETNKNLQKAEEELQELRDKIAKGECGNSSLMAEVENLRKRVLEMEGKDEEITKTESQCRELRKKLQEEEHHSKELRLEVEKLQKRMSELEKLEEAFSKSKSECTQLHLNLEKEKNLTKDLLNELEVVKSRVKELECSESRLEKAELSLKDDLTKLKSFTVMLVDERKNMMEKIKQEERKVDGLNKNFKVEQGKVMDVTEKLIEESKKLLKLKSEMEEKVYNLTRERDELIGKLKSEEEKSSELSCSVDLLKKRLDGIEEVEREITRGRSRKGSELTCPEDNKIKELTLEIERLKKRLQQLEVVEGDLMKTEDEYDQLEQKFRTEQDKANFLSQQLEEIKHQIAKNKAIEKGEVVSQEAELRHRFRLEEAKSRDLKAEVQALKEKIHELMNKEDQLSQLQVDYSVLQQRFMEEENKNKNMGQEVLNLTKELELSKRYSRALRPSVNGRRMVDVPVTSTGVQTDAVSGEAAEEETPAVFIRKSFQEENHIMSNLRQVGLKKPVERSSVLDRYPPAANELTMRKSWIPWMRKRENGPSITQEKGPRTNSSPGHPGEVVLSPKQGQPLHIRVTPDHENSTATLEITSPTSEEFFSSTTVIPTLGNQKPRITIIPSPNVMPQKQKSGDTTLGPERAMSPVTITTFSREKTPESGRGAFADRPTSPIQIMTVSTSAAPAEIAVSPESQEMPMGRTILKVTPEKQTVPTPVRKYNSNANIITTEDNKIHIHLGSQFKRSPGTSGEGVSPVITVRPVNVTAEKEVSTGTVLRSPRNHLSSRPGASKVTSTITITPVTTSSARGTQSVSGQDGSSQRPTPTRIPMSKGMKAGKPVVAAPGAGNLTKFEPRAETQSMKIELKKSAASSTTSLGGGKG", "length": 1114, "header": "tr|A0A075B6G6-1|A0A075B6G6_HUMAN Computationally mapped isoform of Filamin A interacting protein 1, isoform CRA_c OS=Homo sapiens OX=9606 GN=FILIP1 PE=1 SV=1 CANONICAL=Q7Z7B0-1" }, "locus": { "chromosome": "6", "start_pos": 75362896, "end_pos": 75308694, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370020.1", "url": "https://www.ensembl.org/id/ENST00000370020.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000359037.1", "url": "https://www.ensembl.org/id/ENSP00000359037.1" } ] } }, { "isoform_ac": "Q7Z7B0-1", "url": "", "sequence": { "sequence": "MRSRNQGGESASDGHISCPKPSIIGNAGEKSLSEDAKKKKKSNRKEDDVMASGTVKRHLKTSGECERKTKKSLELSKEDLIQLLSIMEGELQAREDVIHMLKTEKTKPEVLEAHYGSAEPEKVLRVLHRDAILAQEKSIGEDVYEKPISELDRLEEKQKETYRRMLEQLLLAEKCHRRTVYELENEKHKHTDYMNKSDDFTNLLEQERERLKKLLEQEKAYQARKEKENAKRLNKLRDELVKLKSFALMLVDERQMHIEQLGLQSQKVQDLTQKLREEEEKLKAITSKSKEDRQKLLKLEVDFEHKASRFSQEHEEMNAKLANQESHNRQLRLKLVGLTQRIEELEETNKNLQKAEEELQELRDKIAKGECGNSSLMAEVENLRKRVLEMEGKDEEITKTESQCRELRKKLQEEEHHSKELRLEVEKLQKRMSELEKLEEAFSKSKSECTQLHLNLEKEKNLTKDLLNELEVVKSRVKELECSESRLEKAELSLKDDLTKLKSFTVMLVDERKNMMEKIKQEERKVDGLNKNFKVEQGKVMDVTEKLIEESKKLLKLKSEMEEKVYNLTRERDELIGKLKSEEEKSSELSCSVDLLKKRLDGIEEVEREITRGRSRKGSELTCPEDNKIKELTLEIERLKKRLQQLEVVEGDLMKTEDEYDQLEQKFRTEQDKANFLSQQLEEIKHQIAKNKAIEKGEVVSQEAELRHRFRLEEAKSRDLKAEVQALKEKIHELMNKEDQLSQLQVDYSVLQQRFMEEENKNKNMGQEVLNLTKELELSKRYSRALRPSVNGRRMVDVPVTSTGVQTDAVSGEAAEEETPAVFIRKSFQEENHIMSNLRQVGLKKPVERSSVLDRYPPAANELTMRKSWIPWMRKRENGPSITQEKGPRTNSSPGHPGEVVLSPKQGQPLHIRVTPDHENSTATLEITSPTSEEFFSSTTVIPTLGNQKPRITIIPSPNVMPQKQKSGDTTLGPERAMSPVTITTFSREKTPESGRGAFADRPTSPIQIMTVSTSAAPAEIAVSPESQEMPMGRTILKVTPEKQTVPTPVRKYNSNANIITTEDNKIHIHLGSQFKRSPGTSGEGVSPVITVRPVNVTAEKEVSTGTVLRSPRNHLSSRPGASKVTSTITITPVTTSSARGTQSVSGQDGSSQRPTPTRIPMSKGMKAGKPVVAAPGAGNLTKFEPRAETQSMKIELKKSAASSTTSLGGGKG", "length": 1213, "header": "sp|Q7Z7B0-1|FLIP1_HUMAN Isoform 1 of Filamin-A-interacting protein 1 OS=Homo sapiens OX=9606 GN=FILIP1 PE=1 SV=1 CANONICAL=Q7Z7B0-1" }, "locus": { "chromosome": "6", "start_pos": 75414972, "end_pos": 75308694, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000237172.12", "url": "https://www.ensembl.org/id/ENST00000237172.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000237172.7", "url": "https://www.ensembl.org/id/ENSP00000237172.7" } ] } }, { "isoform_ac": "Q7Z7B0-2", "url": "", "sequence": { "sequence": "MRSRNQGGESASDGHISCPKPSIIGNAGEKSLSEDAKKKKKSNRKEDDVMASGTVKRHLKTSGECERKTKKSLELSKEDLIQLLSIMEGELQAREDVIHMLKTEKTKPEVLEAHYGSAEPEKVLRVLHRDAILAQEKSIGEDVYEKPISELDRLEEKQKETYRRMLEQLLLAEKCHRRTVYELENEKHKHTDYMNKSDDFTNLLEQERERLKKLLEQEKAYQARKEKENAKRLNKLRDELVKLKSFALMLVDERQMHIEQLGLQSQKVQDLTQKLREEEEKLKAITSKSKEDRQKLLKLEVDFEHKASRFSQEHEEMNAKLANQESHNRQLRLKLVGLTQRIEELEETNKNLQKAEEELQELRDKIAKGECGNSSLMAEVENLRKRVLEMEGKDEEITKTESQCRELRKKLQEEEHHSKELRLEVEKLQKRMSELEKLEEAFSKSKSECTQLHLNLEKEKNLTKDLLNELEVVKSRVKELECSESRLEKAELSLKDDLTKLKSFTVMLVDERKNMMEKIKQEERKVDGLNKNFKVEQGKVMDVTEKLIEESKKLLKLKSEMEEKVYNLTRERDELIGKLKSEEEKSSELSCSVDLLKKRLDGIEEVEREITRGRSRKGSELTCPEDNKIKELTLEIERLKKRLQQLEVVEGDLMKTEDEYDQLEQKFRTEQDKANFLSQQLEEIKHQIAKNKAIEKGEVVSQEAELRHRFRLEEAKSRDLKAEVQALKEKIHELMNKEDQLSQLQVDYSVLQQRFMEEENKNKNMGQEVLNLTKELELSKRYSRALRPSVNGRRMVDVPVTSTGVQTDAVSGEAAEEETPAVFIRKSFQEENHIMSNLRQVGLKKPVERSSVLDRYPPAANELTMRKSWIPWMRKRENGPSITQEKGPRTNSSPGHPGEVVLSPKQGQPLHIRVTPDHENSTATLEITSPTSEEFFSSTTVIPTLGNQKPRITIIPSPNVMPQKQKSGDTTLGPERAMSPVTITTFSREKTPESGRGAFADRPTSPIQIMTVSTSAAPAEIAVSPESQEMPMGRTILKVTPEKQTVPTPVRKYNSNANIITTEDNKIHIHLGSQFKRSPGTSGEGVSPVITVRPVNVTAEKEVSTGTVLRSPRNHLSSRPGASKVTSTITITPVTTSSARGTQSVSGQDGSSQRPTPTRIPMSKESIIIHQLRMNSR", "length": 1177, "header": "sp|Q7Z7B0-2|FLIP1_HUMAN Isoform 2 of Filamin-A-interacting protein 1 OS=Homo sapiens OX=9606 GN=FILIP1 PE=1 SV=1 CANONICAL=Q7Z7B0-1" }, "locus": { "chromosome": "6", "start_pos": 75414972, "end_pos": 75295913, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393004.6", "url": "https://www.ensembl.org/id/ENST00000393004.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000376728.1", "url": "https://www.ensembl.org/id/ENSP00000376728.1" } ] } }, { "isoform_ac": "Q7Z7B0-3", "url": "", "sequence": { "sequence": "MLVDERQMHIEQLGLQSQKVQDLTQKLREEEEKLKAITSKSKEDRQKLLKLEVDFEHKASRFSQEHEEMNAKLANQESHNRQLRLKLVGLTQRIEELEETNKNLQKAEEELQELRDKIAKGECGNSSLMAEVENLRKRVLEMEGKDEEITKTESQCRELRKKLQEEEHHSKELRLEVEKLQKRMSELEKLEEAFSKSKSECTQLHLNLEKEKNLTKDLLNELEVVKSRVKELECSESRLEKAELSLKDDLTKLKSFTVMLVDERKNMMEKIKQEERKVDGLNKNFKVEQGKVMDVTEKLIEESKKLLKLKSEMEEKVYNLTRERDELIGKLKSEEEKSSELSCSVDLLKKRLDGIEEVEREITRGRSRKGSELTCPEDNKIKELTLEIERLKKRLQQLEVVEGDLMKTEDEYDQLEQKFRTEQDKANFLSQQLEEIKHQIAKNKAIEKGEVVSQEAELRHRFRLEEAKSRDLKAEVQALKEKIHELMNKEDQLSQLQVDYSVLQQRFMEEENKNKNMGQEVLNLTKELELSKRYSRALRPSVNGRRMVDVPVTSTGVQTDAVSGEAAEEETPAVFIRKSFQEENHIMSNLRQVGLKKPVERSSVLDRYPPAANELTMRKSWIPWMRKRENGPSITQEKGPRTNSSPGHPGEVVLSPKQGQPLHIRVTPDHENSTATLEITSPTSEEFFSSTTVIPTLGNQKPRITIIPSPNVMPQKQKSGDTTLGPERAMSPVTITTFSREKTPESGRGAFADRPTSPIQIMTVSTSAAPAEIAVSPESQEMPMGRTILKVTPEKQTVPTPVRKYNSNANIITTEDNKIHIHLGSQFKRSPGTSGEGVSPVITVRPVNVTAEKEVSTGTVLRSPRNHLSSRPGASKVTSTITITPVTTSSARGTQSVSGQDGSSQRPTPTRIPMSKGMKAGKPVVAAPGAGNLTKFEPRAETQSMKIELKKSAASSTTSLGGGKG", "length": 965, "header": "sp|Q7Z7B0-3|FLIP1_HUMAN Isoform 3 of Filamin-A-interacting protein 1 OS=Homo sapiens OX=9606 GN=FILIP1 PE=1 SV=1 CANONICAL=Q7Z7B0-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1104, "start_aa": "Ser", "end_pos": 1104, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1104", "evidence": [ { "id": "Q7Z7B0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z7B0" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "Q7Z7B0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7Z7B0" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1130, "start_aa": "Thr", "end_pos": 1130, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1130", "evidence": [ { "id": "Q7Z7B0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z7B0" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1135, "start_aa": "Thr", "end_pos": 1135, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1135", "evidence": [ { "id": "Q7Z7B0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z7B0" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 31, "start_aa": "Ser", "end_pos": 31, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser31", "evidence": [ { "id": "Q7Z7B0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z7B0" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "Q7Z7B0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7Z7B0" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 33, "start_aa": "Ser", "end_pos": 33, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser33", "evidence": [ { "id": "Q7Z7B0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z7B0" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "Q7Z7B0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7Z7B0" } ] } ], "phosphorylation": [ { "start_pos": 1045, "end_pos": 1045, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q7Z7B0", "url": "http://phospho.elm.eu.org/byAccession/Q7Z7B0.html" }, { "database": "iPTMnet", "id": "Q7Z7B0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z7B0" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ], "site_lbl": "Thr1045" }, { "start_pos": 138, "end_pos": 138, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q7Z7B0", "url": "https://www.uniprot.org/uniprot/Q7Z7B0" } ], "site_lbl": "Ser138" }, { "start_pos": 979, "end_pos": 979, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q7Z7B0", "url": "https://www.uniprot.org/uniprot/Q7Z7B0" } ], "site_lbl": "Ser979" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Antagonistic effects of Rnd1 and RhoD GTPases regulate receptor activity in Semaphorin 3A-induced cytoskeletal collapse.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2002", "authors": "Zanata SM, Hovatta I, Rohm B, Puschel AW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "11784792", "url": "https://glygen.org/publication/PubMed/11784792" } ] }, { "title": "RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase.", "journal": "Nature cell biology", "date": "2003", "authors": "Gasman S, Kalaidzidis Y, Zerial M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "12577064", "url": "https://glygen.org/publication/PubMed/12577064" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q7Z7B0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z7B0" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Multiple Rho proteins regulate the subcellular targeting of PAK5.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Wu X, Frost JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "17064668", "url": "https://glygen.org/publication/PubMed/17064668" } ] }, { "title": "Binding of Rac1, Rnd1, and RhoD to a novel Rho GTPase interaction motif destabilizes dimerization of the plexin-B1 effector domain.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Tong Y, Chugha P, Hota PK, Alviani RS, Li M, Tempel W, Shen L, Park HW, Buck M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "17916560", "url": "https://glygen.org/publication/PubMed/17916560" } ] }, { "title": "RhoD participates in the regulation of cell-cycle progression and centrosome duplication.", "journal": "Oncogene", "date": "2013", "authors": "Kyrkou A, Soufi M, Bahtz R, Ferguson C, Bai M, Parton RG, Hoffmann I, Zerial M, Fotsis T, Murphy C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "22665057", "url": "https://glygen.org/publication/PubMed/22665057" } ] }, { "title": "RhoD regulates cytoskeletal dynamics via the actin nucleation-promoting factor WASp homologue associated with actin Golgi membranes and microtubules.", "journal": "Mol. Biol. Cell", "date": "2012", "authors": "Gad AK, Nehru V, Ruusala A, Aspenstrom P", "evidence": [ { "database": "UniProtKB", "id": "Q7Z7B0", "url": "https://www.uniprot.org/uniprot/Q7Z7B0" }, { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" }, { "database": "RefSeq", "id": "NP_001276916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916" } ], "reference": [ { "type": "PubMed", "id": "23087206", "url": "https://glygen.org/publication/PubMed/23087206" } ] }, { "title": "New insight into the molecular switch mechanism of human Rho family proteins: shifting a paradigm.", "journal": "Biological chemistry", "date": "2013", "authors": "Jaiswal M, Fansa EK, Dvorsky R, Ahmadian MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "23096567", "url": "https://glygen.org/publication/PubMed/23096567" } ] }, { "title": "RhoD binds the Rab5 effector Rabankyrin-5 and has a role in trafficking of the platelet-derived growth factor receptor.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2013", "authors": "Nehru V, Voytyuk O, Lennartsson J, Aspenstrom P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "24102721", "url": "https://glygen.org/publication/PubMed/24102721" } ] }, { "title": "RhoD is a Golgi component with a role in anterograde protein transport from the ER to the plasma membrane.", "journal": "Experimental cell research", "date": "2015", "authors": "Blom M, Reis K, Nehru V, Blom H, Gad AK, Aspenstrom P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "25746724", "url": "https://glygen.org/publication/PubMed/25746724" } ] }, { "title": "Deciphering the Molecular and Functional Basis of RHOGAP Family Proteins: A SYSTEMATIC APPROACH TOWARD SELECTIVE INACTIVATION OF RHO FAMILY PROTEINS.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Amin E, Jaiswal M, Derewenda U, Reis K, Nouri K, Koessmeier KT, Aspenstrom P, Somlyo AV, Dvorsky R, Ahmadian MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "27481945", "url": "https://glygen.org/publication/PubMed/27481945" } ] }, { "title": "Quantitative GTPase Affinity Purification Identifies Rho Family Protein Interaction Partners.", "journal": "Molecular & cellular proteomics : MCP", "date": "2017", "authors": "Paul F, Zauber H, von Berg L, Rocks O, Daumke O, Selbach M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "27852748", "url": "https://glygen.org/publication/PubMed/27852748" } ] }, { "title": "RhoD Inhibits RhoC-ROCK-Dependent Cell Contraction via PAK6.", "journal": "Developmental cell", "date": "2017", "authors": "Durkin CH, Leite F, Cordeiro JV, Handa Y, Arakawa Y, Valderrama F, Way M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "28486133", "url": "https://glygen.org/publication/PubMed/28486133" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z7B0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z7B0" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "HINT2 triggers mitochondrial Ca(2+) influx by regulating the mitochondrial Ca(2+) uniporter (MCU) complex and enhances gemcitabine apoptotic effect in pancreatic cancer.", "journal": "Cancer letters", "date": "2017", "authors": "Chen L, Sun Q, Zhou D, Song W, Yang Q, Ju B, Zhang L, Xie H, Zhou L, Hu Z, Yao H, Zheng S, Wang W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "28947137", "url": "https://glygen.org/publication/PubMed/28947137" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z7B0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z7B0" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "RhoD localization and function is dependent on its GTP/GDP-bound state and unique N-terminal motif.", "journal": "European journal of cell biology", "date": "2018", "authors": "Blom M, Reis K, Aspenstrom P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "29776664", "url": "https://glygen.org/publication/PubMed/29776664" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z7B0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z7B0" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z7B0", "url": "https://oglcnac.org/atlas/detail/Q7Z7B0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z7B0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z7B0" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z7B0", "url": "https://oglcnac.org/atlas/detail/Q7Z7B0" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms.", "journal": "Nature cell biology", "date": "2020", "authors": "Bagci H, Sriskandarajah N, Robert A, Boulais J, Elkholi IE, Tran V, Lin ZY, Thibault MP, Dube N, Faubert D, Hipfner DR, Gingras AC, Cote JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "31871319", "url": "https://glygen.org/publication/PubMed/31871319" } ] }, { "title": "Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma.", "journal": "EBioMedicine", "date": "2021", "authors": "Roth K, Coussement L, Knatko EV, Higgins M, Steyaert S, Proby CM, de Meyer T, Dinkova-Kostova AT", "evidence": [ { "database": "RefSeq", "id": "NP_001276916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916" } ], "reference": [ { "type": "PubMed", "id": "34000624", "url": "https://glygen.org/publication/PubMed/34000624" } ] }, { "title": "Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.", "journal": "Human genetics", "date": "2023-03-21", "authors": "Schnabel Franziska, Schuler Elisabeth, Al-Maawali Almundher, Chaurasia Ankur, Syrbe Steffen, Al-Kindi Adila, Bhavani Gandham SriLakshmi, Shukla Anju, Altm\u00fcller Janine, N\u00fcrnberg Peter, Banka Siddharth, Girisha Katta M, Li Yun, Wollnik Bernd, Yigit G\u00f6khan", "evidence": [ { "database": "RefSeq", "id": "NP_001276916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916" } ], "reference": [ { "type": "PubMed", "id": "36943452", "url": "https://glygen.org/publication/PubMed/36943452" } ] }, { "title": "Endosome dynamics regulated by a Rho protein.", "journal": "Nature", "date": "1996", "authors": "Murphy C, Saffrich R, Grummt M, Gournier H, Rybin V, Rubino M, Auvinen P, Lutcke A, Parton RG, Zerial M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "8945468", "url": "https://glygen.org/publication/PubMed/8945468" } ] } ], "pathway": [ { "id": "hsa:27145", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27145", "resource": "KEGG Pathway" }, { "id": "R-HSA-9013405", "name": "RHOD GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405", "resource": "Reactome", "description": "RHOD GTPase cycle" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8K4T4-1", "protein_name": "Filamin-A-interacting protein 1", "gene_name": "Filip1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRSRNQGGESSSNGHVSCPKSSIISSDGGKGPSEDAKKNKANRKEEDVMASGTIKRHLKPSGESEKKTKKSVELSKEDLIQLLSIMEGELQAREDVIHMLRTEKTKPEVLEAHYGSAEPEKVLRVLHRDAILAQEKSIGEDVYEKPISELDRLEEKQKETYRRMLEQLLLAEKCHRRTVYELENEKHKHTDYMNKSDDFTNLLEQERERLKKLLEQEKAYQARKEKENAKRLNKLRDELVKLKSFALMLVDERQMHIEQLGLQSQKVQDLTQKLREEEEKLKAVTYKSKEDRQKLLKLEVDFEHKASRFSQEHEEMNAKLANQESHNRQLRLKLVGLSQRIEELEETNKSLQKAEEELQELREKIAKGECGNSSLMAEVESLRKRVLEMEGKDEEITKTEAQCRELKKKLQEEEHHSKELRLEVEKLQKRMSELEKLEEAFSRSKSECTQLHLNLEKEKNLTKDLLNELEVVKSRVKELECSESRLEKAELSLKDDLTKLKSFTVMLVDERKNMMEKIKQEERKVDGLNKNFKVEQGKVMDVTEKLIEESKKLLKLKSEMEEKEYSLTKERDELMGKLRSEEERSCELSCSVDLLKKRLDGIEEVEREINRGRSCKGSEFTCPEDNKIRELTLEIERLKKRLQQLEVVEGDLMKTEDEYDQLEQKFRTEQDKANFLSQQLEEIKHQMAKHKAIEKGEAVSQEAELRHRFRLEEAKSRDLQAEVQALKEKIHELMNKEDQLSQLQVDYSVLQQRFMEEETKNKNMGREVLNLTKELELSKRYSRALRPSGNGRRMVDVPVASTGVQTEAVCGDAAEEETPAVFIRKSFQEENHIMSNLRQVGLKKPMERSSVLDRYPPAANELTMRKSWIPWMRKRENGPSTPQEKGPRPNQGAGHPGELVLAPKQGQPLHIRVTPDHENSTATLEITSPTSEEFFSSTTVIPTLGNQKPRITIIPSPNVMSQKPKSADPTLGPERAMSPVTITTISREKSPEGGRSAFADRPASPIQIMTVSTSAAPTEIAVSPESQEVPMGRTILKVTPEKQTVPAPVRKYNSNANIITTEDNKIHIHLGSQFKRSPGPAAEGVSPVITVRPVNVTAEKEVSTGTVLRSPRNHLSSRPGASKVTSTITITPVTTSSTRGTQSVSGQDGSSQRPTPTRIPMSKGMKAGKPVVAASGAGNLTKFQPRAETQSMKIELKKSAASSTASLGGGKG", "length": 1212 }, "evidence": [ { "id": "45238100", "url": "http://www.informatics.jax.org/homology/45238100", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9CS72-1", "protein_name": "Filamin-A-interacting protein 1", "gene_name": "Filip1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRSRNQGGESSSNGHVSCPKPSIISSDGGKGPSEDAKKNKANRKGEDDVMASGTVKRHLKPSGESEKKTKKPLELSKEDLIQLLSIMEGELQAREDVIHMLKTEKTKPEVLEAHYGSAEPEKVLRVLHRDAILAQEKSIGEDVYEKPISELDRLEEKQKETYRRMLEQLLLAEKCHRRTVYELENEKHKHTDYMNKSDDFTNLLEQERERLKKLLEQEKAYQARKEKENAKRLNKLRDELVKLKSFALMLVDERQMHIEQLGLQSQKVQDLTQKLREEEEKLKAITYKSKEDRQKLLKLEVDFEHKASRFSQEHEEMNAKLANQESHNRQLRLKLVGLSQRIEELEETNKSLQKAEEELQELRDKIAKGECGNSSLMAEVESLRKRVLEMEGKDEEITKTEAQCRELKKKLQEEEHHSKELRLEVEKLQKRMSELEKLEEAFSRSKSECTQLHLNLEKEKNLTKDLLNELEVVKSRVKELECSESRLEKVELSLKDDLTKLKSFTVMLVDERKNMMEKIKQEERKVDGLNKNFKVEQGKVMDVTEKLIEESKKLLKLKSEMEEKVYSLTKERDELMGKLRSEEERSCELSCSVDLLKKRLDGIEEVEREINRGRLCKGSEFTCPEDNKIRELTLEIERLKKRLQQLEVVEGDLMKTEDEYDQLEQKFRTEQDKANFLSQQLEEIKHQMAKNKAIEKGEAVSQEAELRHRFRMEEAKSRDLQAEVQALKEKIHELMNKEDQLSQLQVDYSVLQQRFMEEETKNKNMGREVLNLTKELELSKRYSRALRPSGNGRRMVDVPVASTGVQTEAVCGDAAEEETPAVFIRKSFQEENHIMSNLRQVGLKKPMERSSVLDRYPPAANELTMRKSWIPWMRKRENGPSAPQEKGPRPNQGTGHPGELVLAPKQGQPLHIRVTPDHENSTATLEITSPTSEEFFSSTTVIPTLGNQKPRITIIPSPNVMSQKPKSADPTLGPERAMSPVTITTISREKSPEGGRGAFADRPASPIQIMTVSTSAAPPEIAVSPDSQEVPMGRTILKVTPEKQTVPTPMRKYNANANIITTEDNKIHIHLGSQFKRSPGPAAAEGVSPVITVRPVNVTAEKEVSTGTVLRSPRNHLSSRPGANKVTSTITITPVTTSSTRGTQSVSGQDGSSQRPTPTRIPMSKGMKAGKPVVAAPGAGNLTKFQPRAETQSMKIELKKSAASSTASLGGGKG", 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"sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 26 }, { "field": "total_sites", "count": 24 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", 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