{ "uniprot_canonical_ac": "A4D2P6-1", "sequence": { "length": 1211, "sequence": "MATTATPATNQGWPEDFGFRLGGSGPCFVLEVAKGSSAHAGGLRPGDQILEVEGLAVGGLSRERLVRLARRCPRVPPSLGVLPAPDGGPGPGSGPAAPTTVLRAPRCGRGLALGRELLRLAGRKRPDAVHRERRRKAQEFSRKVDEILGDQPTAKEQVFAALKQFAAEQRVDDLVWTLTLALPREACGPLLDNLRIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAPPRRPDEPPPRRASLLVGGLAGPGGARRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPADNAALKSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGLVPFASDSDSLDSPNPSSALTSLQWVAEILPSSIRVQGRTFSQQLEHLLTPPERYGVCRALESFFQHRNIDTLIVDVYPVLDTPAKQVLWQFIYQLLTYEEQELCQEKIACFLGYTAMTAEPEPELDLESEPTPEPQPRSSLRASSMCRRSLRSQGLEAGLSCGPSECPEMPLPLIPGERQAGDGTSLPETPNPKMMSAVYAELESRLNSSFKGKMGTVSKSRASPPGPSPAVTTGPRTLSGVSWPSERLLPSPCYHPLCSGGLASPSSSESHPYASLDSSRAPSPQPGPGPICPDSPPSPDPTRPPSRRKLFTFSHPVRSRDTDRFLDVLSEQLGPRVTIVDDFLTPENDYEEMSFHDDQGSFVTNERSSASDCISSSEEGSSLTYSSISDHIPPPPLSPPPPPPLPFHDAKPSSRSSDGSRGPAQALAKPLTQLSHPVPPPPPPPLPPPVPCAPPMLSRGLGHRRSETSHMSVKRLRWEQVENSEGTIWGQLGEDSDYDKLSDMVKYLDLELHFGTQKPAKPVPGPEPFRKKEVVEILSHKKAYNTSILLAHLKLSPAELRQVLMSMEPRRLEPAHLAQLLLFAPDADEEQRYQAFREAPGRLSEPDQFVLQMLSVPEYKTRLRSLHFQATLQEKTEEIRGSLECLRQASLELKNSRKLAKILEFVLAMGNYLNDGQPKTNKTTGFKINFLTELNSTKTVDGKSTFLHILAKSLSQHFPELLGFAQDLPTVPLAAKVNQRALTSDLADLHGTISEIQDACQSISPSSEDKFAMVMSSFLETAQPALRALDGLQREAMEELGKALAFFGEDSKATTSEAFFGIFAEFMSKFERALSDLQAGEGLRSSGMVSPLAW" }, "uniprot_id": "GRD2I_HUMAN", "enzyme_annotation": [], "alternativenames": [ { "full": "Glutamate receptor, ionotropic, delta 2-interacting protein 1", "short": "" } ], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6", "id": "A4D2P6", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Delphilin" }, "publication": [ { "title": "Characterization of the delta2 glutamate receptor-binding protein delphilin: splicing variants with differential palmitoylation and an additional PDZ domain.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16835239", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6/publications", "id": "A4D2P6", "database": "UniProtKB" } ], "authors": "Matsuda S., Matsuda K., Yuzaki M., Gladding C.M.", "date": "2006", "pmid": "16835239" }, { "title": "Identification and characterization of human GRID2IP gene and rat Grid2ip gene in silico.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/14612983", "journal": "Int. J. Mol. Med.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6/publications", "id": "A4D2P6", "database": "UniProtKB" } ], "authors": "Katoh M., Katoh M.'", "date": "2003", "pmid": "14612983" } ], "glycosylation": [], "mutation": [ { "start_pos": 1201, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0108", "annotation": "Somatic mutation in Ovarian cancer (DOID:2394) with frequency of 1/93 (0.0108)", "sequence_org": "R", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "H", "subjects_tested": "93", "end_pos": 1201, "type": "Point mutation" }, { "start_pos": 872, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "C", "subjects_tested": "50", "end_pos": 872, "type": "Point mutation" }, { "start_pos": 862, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "V", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "M", "subjects_tested": "50", "end_pos": 862, "type": "Point mutation" }, { "start_pos": 804, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0152", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/66 (0.0152)", "sequence_org": "P", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "H", "subjects_tested": "66", "end_pos": 804, "type": "Point mutation" }, { "start_pos": 720, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Breast cancer (DOID:1612) with frequency of 1/50 (0.0200)", "sequence_org": "V", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "L", "subjects_tested": "50", "end_pos": 720, "type": "Point mutation" }, { "start_pos": 621, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 621, "type": "Point mutation" }, { "start_pos": 523, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0108", "annotation": "Somatic mutation in Ovarian cancer (DOID:2394) with frequency of 1/93 (0.0108)", "sequence_org": "C", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "F", "subjects_tested": "93", "end_pos": 523, "type": "Point mutation" }, { "start_pos": 461, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Breast cancer (DOID:1612) with frequency of 1/50 (0.0200)", "sequence_org": "Q", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 461, "type": "Point mutation" }, { "start_pos": 221, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 221, "type": "Point mutation" }, { "start_pos": 204, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "A", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "E", "subjects_tested": "94", "end_pos": 204, "type": "Point mutation" }, { "start_pos": 166, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 166, "type": "Point mutation" }, { "start_pos": 56, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 56, "type": "Point mutation" }, { "start_pos": 51, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "E", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "*", "subjects_tested": "50", "end_pos": 51, "type": "Point mutation" }, { "start_pos": 20, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "R", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "G", "subjects_tested": "50", "end_pos": 20, "type": "Point mutation" }, { "start_pos": 19, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "F", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "C", "subjects_tested": "50", "end_pos": 19, "type": "Point mutation" }, { "start_pos": 7, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "P", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "S", "subjects_tested": "50", "end_pos": 7, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6#A4D2P6-1", "isoform_ac": "A4D2P6-1", "locus": { "end_pos": 6497777, "start_pos": 6551436, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000457091", "id": "ENST00000457091", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000397351", "id": "ENSP00000397351", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 1211, "sequence": "MATTATPATNQGWPEDFGFRLGGSGPCFVLEVAKGSSAHAGGLRPGDQILEVEGLAVGGLSRERLVRLARRCPRVPPSLGVLPAPDGGPGPGSGPAAPTTVLRAPRCGRGLALGRELLRLAGRKRPDAVHRERRRKAQEFSRKVDEILGDQPTAKEQVFAALKQFAAEQRVDDLVWTLTLALPREACGPLLDNLRIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAPPRRPDEPPPRRASLLVGGLAGPGGARRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPADNAALKSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGLVPFASDSDSLDSPNPSSALTSLQWVAEILPSSIRVQGRTFSQQLEHLLTPPERYGVCRALESFFQHRNIDTLIVDVYPVLDTPAKQVLWQFIYQLLTYEEQELCQEKIACFLGYTAMTAEPEPELDLESEPTPEPQPRSSLRASSMCRRSLRSQGLEAGLSCGPSECPEMPLPLIPGERQAGDGTSLPETPNPKMMSAVYAELESRLNSSFKGKMGTVSKSRASPPGPSPAVTTGPRTLSGVSWPSERLLPSPCYHPLCSGGLASPSSSESHPYASLDSSRAPSPQPGPGPICPDSPPSPDPTRPPSRRKLFTFSHPVRSRDTDRFLDVLSEQLGPRVTIVDDFLTPENDYEEMSFHDDQGSFVTNERSSASDCISSSEEGSSLTYSSISDHIPPPPLSPPPPPPLPFHDAKPSSRSSDGSRGPAQALAKPLTQLSHPVPPPPPPPLPPPVPCAPPMLSRGLGHRRSETSHMSVKRLRWEQVENSEGTIWGQLGEDSDYDKLSDMVKYLDLELHFGTQKPAKPVPGPEPFRKKEVVEILSHKKAYNTSILLAHLKLSPAELRQVLMSMEPRRLEPAHLAQLLLFAPDADEEQRYQAFREAPGRLSEPDQFVLQMLSVPEYKTRLRSLHFQATLQEKTEEIRGSLECLRQASLELKNSRKLAKILEFVLAMGNYLNDGQPKTNKTTGFKINFLTELNSTKTVDGKSTFLHILAKSLSQHFPELLGFAQDLPTVPLAAKVNQRALTSDLADLHGTISEIQDACQSISPSSEDKFAMVMSSFLETAQPALRALDGLQREAMEELGKALAFFGEDSKATTSEAFFGIFAEFMSKFERALSDLQAGEGLRSSGMVSPLAW" } }, { "url": "https://www.uniprot.org/uniprot/A4D2P6#C9JNS8-1", "isoform_ac": "C9JNS8-1", "locus": { "end_pos": 6497777, "start_pos": 6531102, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000435185", "id": "ENST00000435185", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000408364", "id": "ENSP00000408364", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 1027, "sequence": "MGKDQGFSRHFRIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAPPRRPDEPPPRRASLLVGGLAGPGGARRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPADNAALKSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGLVPFASDSDSLDSPNPSSALTSLQWVAEILPSSIRVQGRTFSQQLEHLLTPPERYGVCRALESFFQHRNIDTLIVDVYPVLDTPAKQVLWQFIYQLLTYEEQELCQEKIACFLGYTAMTEPEPELDLESEPTPEPQPRSSLRASSMCRRSLRSQGLEAGLSCGPSECPEMPLPLIPGERQAGDGTSLPETPNPKMMSAVYAELESRLNSSFKGKMGTVSKSRASPPGPSPAVTTGPRTLSGVSWPSERLLPSPCYHPLCSGGLASPSSSESHPYASLDSSRAPSPQPGPGPICPDSPPSPDPTRPPSRRKLFTFSHPVRSRDTDRFLDVLSEQLGPRVTIVDDFLTPENDYEEMSFHDDQGSFVTNERSSASDCISSSEEGSSLTYSSISDHIPPPPLSPPPPPPLPFHDAKPSSRSSDGSRGPAQALAKPLTQLSHPVPPPPPPPLPPPVPCAPPMLSRGLGHRRSETSHMSVKRLRWEQVENSEGTIWGQLGEDSDYDKLSDMVKYLDLELHFGTQKPAKPVPGPEPFRKKEVVEILSHKKAYNTSILLAHLKLSPAELRQVLMSMEPRRLEPAHLAQLLLFAPDADEEQRYQAFREAPGRLSEPDQFVLQMLSVPEYKTRLRSLHFQATLQEKTEEIRGSLECLRQASLELKNSRKLAKILEFVLAMGNYLNDGQPKTNKTTGFKINFLTELNSTKTVDGKSTFLHILAKSLSQHFPELLGFAQDLPTVPLAAKVNQRALTSDLADLHGTISEIQDACQSISPSSEDKFAMVMSSFLETAQPALRALDGLQREAMEELGKALAFFGEDSKATTSEAFFGIFAEFMSKFERALSDLQAGEGLRSSGMVSPLAW" } }, { "url": "https://www.uniprot.org/uniprot/A4D2P6#C9J5F6-1", "isoform_ac": "C9J5F6-1", "locus": { "end_pos": 6497777, "start_pos": 6536844, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000452113", "id": "ENST00000452113", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000397887", "id": "ENSP00000397887", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 1020, "sequence": "MSCLGIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAPPRRPDEPPPRRASLLVGGLAGPGGARRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPADNAALKSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGLVPFASDSDSLDSPNPSSALTSLQWVAEILPSSIRVQGRTFSQQLEHLLTPPERYGVCRALESFFQHRNIDTLIVDVYPVLDTPAKQVLWQFIYQLLTYEEQELCQEKIACFLGYTAMTEPEPELDLESEPTPEPQPRSSLRASSMCRRSLRSQGLEAGLSCGPSECPEMPLPLIPGERQAGDGTSLPETPNPKMMSAVYAELESRLNSSFKGKMGTVSKSRASPPGPSPAVTTGPRTLSGVSWPSERLLPSPCYHPLCSGGLASPSSSESHPYASLDSSRAPSPQPGPGPICPDSPPSPDPTRPPSRRKLFTFSHPVRSRDTDRFLDVLSEQLGPRVTIVDDFLTPENDYEEMSFHDDQGSFVTNERSSASDCISSSEEGSSLTYSSISDHIPPPPLSPPPPPPLPFHDAKPSSRSSDGSRGPAQALAKPLTQLSHPVPPPPPPPLPPPVPCAPPMLSRGLGHRRSETSHMSVKRLRWEQVENSEGTIWGQLGEDSDYDKLSDMVKYLDLELHFGTQKPAKPVPGPEPFRKKEVVEILSHKKAYNTSILLAHLKLSPAELRQVLMSMEPRRLEPAHLAQLLLFAPDADEEQRYQAFREAPGRLSEPDQFVLQMLSVPEYKTRLRSLHFQATLQEKTEEIRGSLECLRQASLELKNSRKLAKILEFVLAMGNYLNDGQPKTNKTTGFKINFLTELNSTKTVDGKSTFLHILAKSLSQHFPELLGFAQDLPTVPLAAKVNQRALTSDLADLHGTISEIQDACQSISPSSEDKFAMVMSSFLETAQPALRALDGLQREAMEELGKALAFFGEDSKATTSEAFFGIFAEFMSKFERALSDLQAGEGLRSSGMVSPLAW" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:392862", "resource": "KEGG Pathway", "id": "hsa:392862", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6#function", "annotation": "Postsynaptic scaffolding protein at the parallel fiber-Purkinje cell synapse, where it may serve to link GRID2 with actin cytoskeleton and various signaling molecules.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6#function", "id": "A4D2P6", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "annotation": "Delphilin is an actin nucleator that does not accelerate elongation. Delphilin exhibits a preference for actin isoforms, nucleating nonmuscle actin but not muscle actin.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "id": "NP_001138590.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "annotation": "Thus, phosphorylation of -2T and/or -1S of GluRdelta2 C-terminus by PKA may regulate the binding of GluRdelta2 to its scaffolding protein, Delphilin.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "id": "NP_001138590.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "annotation": "Delphilin isoforms with differential palmitoylation and clustering capabilities may provide two separate intracellular and surface GluRdelta2 pools and may control GluRdelta2 signaling in Purkinje cells", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "id": "NP_001138590.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q0QWG9-1", "protein_name": "Delphilin", "sequence": { "length": 1203, "sequence": "MPATNQGWPEDFGFQLGGSGPCFVIEVAEGSSAHAGGLRPGDQILEVEGLAVGGLSRERIVRLARRCPRVPPSLGVLPGPEGGPTALTAAWLTRRFGRSLPLSRELLRLAGGPRPDAVHRERRRKAQEFSCQVDDILGDRLTAKEQVFTALKQFAAEQRVDELVWTLTLVLPSEAQGPVLDNLRIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAAPRRPDEPPPRKATSLLGGRTGPGGPRRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPAENASLKSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGPVPFASDSDSLDSPTRASALTSLQWVADILPSSIRVQGRTFSQQLDHLLTPPERYGVCRALERFFQHRNIDTLIVDVYPVLDTPAKQVLWQFLYQLLTYEEQELCQEKIACFLGYTAMTEPESSLDLEPESTPEPTPEPQPRSSLRASSMCRRSLRSQGLETSLSCGPGDCPEMPLPLIPGERQAGDGTSLPETPNPKMMSAVYAELESRLNSSFKGKIGTMSKSRASPPVPSLVGTSGPRTLSGVSWPSDRLLPSPCYDPLCSGGLASPSSSESHPYASLDSSRAPSPQPGLGSIHADSPPSPDPIRPPSRRKLFAFSRPVRSRDTDRFLDALSEQLGPRLSIVDDFLTPENDYEEMSFHDDQGSFVTNERSSASECVSSSEEGSSLTYSSISDHIPPPPLSPPPPPPLPFHDPKPSSRTSDGPRGPPQSLTKPLTQINHPVPPPPPPPLPPPVPCAPPMLSRGVGHRRSETSHMSVKRLRWEQVENSEGTIWGQLGEDSDYDKLSDMVKYLDLELHFGTQKPPKPVPGPEPFRKKEVVEILSHKKAYNTSILLAHLKLTPGELRQVLMSMEPRRLEPAHLAQLLLFAPDADEEQRYQAFREAPGRLSEPDQFVLQMLSVPEYKTRLRSLHFQATLQEKTEEIRGSLECLRQASLELKNSRKLAKILEFVLAMGNYLNDGQPKTNKTTGFKINFLTELNSTKTVDGKSTFLHILAKSLSQHFPELLGFAQDLPTVPLAAKVNQRALTGDLADLHDTVSEIQVACQSMAPSSEDRFAVVMASFLETAQPALRALDGLQREAMEELGKALAFFGEDSKATTSEAFFGIFSEFMSKFERALSDLQAGDGPRSSGMVSPLAW" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/15781", "id": "15781", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "F1LU68-1", "protein_name": "", "sequence": { "length": 1024, "sequence": "MSCLGIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAAPRRPDEPPPRKAASLLGGRTGPGGPRRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPAENASLKSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGPVPFASDSDSLDSPTRASALTSLQWVADILPSSIRVQGRTFSQQLDHLLTPPERYGVCRALESFFQHRSIDTLIVDVYPVLDTPAKQVLWQFLYQLLTYEEQELCQEKIACFLGYTAITEPESSLDLEPESTPEPTPEPQPRSSLRASSMCRRSLRSQGLEASLSCGPGDCSEMPLPLIPGERQAGDGTSLPETPNPKMMSAVYAELESRLNSGFKGKIGTVSKSRASPPVPSLVGTSGPRTLSGVSWPGDRLLPSPCYDPLCSGGLASPSSSESHPYASLDSSRAPSPQPGLGSIHPDSPPSPDPIRPPSRRKLFAFSRPVRSRDTDRFLDVLSEQLGPRVTIVDDFLTPENDYEEMSFHDDQGSFVTNERSSASECVSSSEEGSSLTYSSISDHIPPPPLSPPPPPPLPFHDPKPSSRTSDGPRGPPQSLTKPLTQISHPVPPPPPPPLPPPVPCAPPMISRGVGHRRSETSHMSVKRLRWEQVENSEGTIWGQLGEDSDYDKLSDMVKYLDLELHFGTQKPPKPVPGPEPFRKKEVVEILSHKKAYNTSILLAHLKLTPGELRQVLMSMEPRRLEPAHLAQLLLFAPDADEEQRYQAFREAPGRLSEPDQFVLQMLSVPEYKTRLRSLHFQATLQEKTEEIRGSLECLRQASLELKNSRKLAKILEFVLAMGNYLNDGQPKTNKTTGFKINFLTELNSTKTVDGKSTFLHILAKSLSQHFPELLGFAQDLPTVPLAAKVNQRALTVDLADLHDTVSEIQVACQSMVPSSEDRFAVVMTSFLETAQPALRALDGLQREAMEELGKALAFFGEDSKATTSEAFFGIFSEFMSKFERALSDLQAGDGPRSSGMVSPLAW" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A4D2P6/", "id": "A4D2P6", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "ac": "NP_001138590.1", "name": "delphilin", "summary": "Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6", "id": "A4D2P6", "database": "UniProtKB" } ], "name": "cell junction", "id": "GO:0030054" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6", "id": "A4D2P6", "database": "UniProtKB" } ], "name": "postsynaptic membrane", "id": "GO:0045211" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060292", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6", "id": "A4D2P6", "database": "UniProtKB" } ], "name": "long-term synaptic depression", "id": "GO:0060292" } ], "total": 1, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 288, "annotation": "n_glycosylation_sequon", "start_pos": 286 }, { "end_pos": 333, "annotation": "n_glycosylation_sequon", "start_pos": 331 }, { "end_pos": 566, "annotation": "n_glycosylation_sequon", "start_pos": 564 }, { "end_pos": 904, "annotation": "n_glycosylation_sequon", "start_pos": 902 }, { "end_pos": 1040, "annotation": "n_glycosylation_sequon", "start_pos": 1038 }, { "end_pos": 1054, "annotation": "n_glycosylation_sequon", "start_pos": 1052 } ], "crossref": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:392862", "id": "hsa:392862", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18464", "id": "18464", "database": "HGNC" }, { "url": "https://omabrowser.org/oma/group/PSDCPEM/", "id": "PSDCPEM", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001478", "id": "IPR001478", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036034", "id": "IPR036034", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR015425", "id": "IPR015425", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR042201", "id": "IPR042201", "database": "InterPro" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID2IP", "id": "GRID2IP", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/392862", "id": "392862", "database": "GeneID" }, { "url": "http://pfam.xfam.org/family/PF00595", "id": "PF00595", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF02181", "id": "PF02181", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A4D2P6", "id": "PR_A4D2P6", "database": "PRO" }, { "url": "https://www.nextprot.org/entry/NX_A4D2P6", "id": "NX_A4D2P6", "database": "neXtProt" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A4D2P6*", "id": "A4D2P6", "database": "IntAct" } ], "expression_disease": [ { "trend": "Up", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2P6", "id": "A4D2P6", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2P6", "id": "A4D2P6", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2P6", "id": "A4D2P6", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2P6", "id": "A4D2P6", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2P6", "id": "A4D2P6", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2P6", "id": "A4D2P6", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2P6", "id": "A4D2P6", "database": "BioXpress" } ] } ], "uniprot_ac": "A4D2P6", "disease": [], "mass": { "monoisotopic_mass": 132276.0, "chemical_mass": 132276.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215045", "id": "ENSG00000215045", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18464", "name": "GRID2IP", "locus": { "end_pos": 6497462, "start_pos": 6551436, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000215045", "id": "ENSG00000215045", "database": "Ensembl Gene" } ] } } ] }