{ "uniprot_canonical_ac": "A0A8I6GLB8-1", "uniprot_ac": "A0A8I6GLB8", "uniprot_id": "A0A8I6GLB8_RAT", "mass": { "chemical_mass": 21882.0, "monoisotopic_mass": 21882.0 }, "refseq": {}, "gene_names": [ { "name": "Chmp1a", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8", "id": "A0A8I6GLB8" } ], "protein_names": [ { "name": "Charged multivesicular body protein 1A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A8I6GLB8" } ], "function": [], "disease": [ { "disease_id": "DOID:0060277", "recommended_name": { "id": "DOID:0060277", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060277", "name": "pontocerebellar hypoplasia type 8", "description": "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene." }, "synonyms": [ { "id": "MONDO:0013990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013990", "name": "pontocerebellar hypoplasia type 8", "description": "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." }, { "id": "MONDO:0013990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013990", "name": "CHMP1A non-syndromic pontocerebellar hypoplasia", "description": "" }, { "id": "MONDO:0013990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013990", "name": "PCH8", "description": "" }, { "id": "MONDO:0013990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013990", "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A", "description": "" }, { "id": "MONDO:0013990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013990", "name": "pontocerebellar hypoplasia due to CHMP1A mutation", "description": "" }, { "id": "MONDO:0013990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013990", "name": "pontocerebellar hypoplasia type 8", "description": "" }, { "id": "MONDO:0013990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013990", "name": "pontocerebellar hypoplasia, type 8", "description": "" }, { "id": "MIM:614961", "resource": "MIM", "url": "https://www.omim.org/entry/614961", "name": "Pontocerebellar hypoplasia 8", "description": "Pontocerebellar hypoplasia 8" } ], "evidence": [ { "id": "0060277", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060277" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "common_name": "Rat" } ], "gene": [ { "name": "Chmp1a", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8", "locus": { "chromosome": "19", "start_pos": 51238160, "end_pos": 51246436, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000016001", "url": "https://www.ensembl.org/id/ENSRNOG00000016001" } ] } } ], "crossref": [ { "id": "ENSRNOG00000016001", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000016001", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "IPR005024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:365024", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:365024", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "RVQSAMM", "url": "https://omabrowser.org/oma/group/RVQSAMM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "260657at2759", "url": "http://www.orthodb.org/?query=260657at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10476", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10476", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10476:SF17", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10476:SF17", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03357", "url": "http://pfam.xfam.org/family/PF03357", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "1311083", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1311083", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6GLB8-1", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D4AE79", "url": "https://www.uniprot.org/uniprot/D4AE79", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D4AE79-1", "url": "https://www.uniprot.org/uniprot/D4AE79-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSDWTYILRPCFTAKQLEKLAKKAEKDSKAEQAKVKKALQQKNVECARVYAENAIRKKNEGVNWLRMASRVDAVASKVQTAVTMKGVTKNMAQVTKALDKALSAMDLQKVSAVMDRFEQQVQNLDVHTSVMEDSVSSATTLTTPQEQVDSLIVQIAEENGLEVLDQLSQLPEGASAVGESSVRSQEDQLSRRLAALRN", "length": 198, "header": "tr|A0A8I6GLB8-1|A0A8I6GLB8_RAT Isoform 1 of Charged multivesicular body protein 1A OS=Rattus norvegicus OX=10116 GN=Chmp1a PE=1 SV=1 CANONICAL=A0A8I6GLB8-1" }, "isoforms": [ { "isoform_ac": "A0A8I6GLB8-1", "url": "", "sequence": { "sequence": "MSDWTYILRPCFTAKQLEKLAKKAEKDSKAEQAKVKKALQQKNVECARVYAENAIRKKNEGVNWLRMASRVDAVASKVQTAVTMKGVTKNMAQVTKALDKALSAMDLQKVSAVMDRFEQQVQNLDVHTSVMEDSVSSATTLTTPQEQVDSLIVQIAEENGLEVLDQLSQLPEGASAVGESSVRSQEDQLSRRLAALRN", "length": 198, "header": "tr|A0A8I6GLB8-1|A0A8I6GLB8_RAT Isoform 1 of Charged multivesicular body protein 1A OS=Rattus norvegicus OX=10116 GN=Chmp1a PE=1 SV=1 CANONICAL=A0A8I6GLB8-1" }, "locus": { "chromosome": "19", "start_pos": 51243056, "end_pos": 51239589, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000115232.1", "url": "https://www.ensembl.org/id/ENSRNOT00000115232.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000094810.1", "url": "https://www.ensembl.org/id/ENSRNOP00000094810.1" } ] } }, { "isoform_ac": "D4AE79-1", "url": "", "sequence": { "sequence": "MDAKQLEKLAKKAEKDSKAEQAKVKKALQQKNVECARVYAENAIRKKNEGVNWLRMASRVDAVASKVQTAVTMKGVTKNMAQVTKALDKALSAMDLQKVSAVMDRFEQQVQNLDVHTSVMEDSVSSATTLTTPQEQVDSLIVQIAEENGLEVLDQLSQLPEGASAVGESSVRSQEDQLSRRLAALRN", "length": 187, "header": "tr|D4AE79-1|D4AE79_RAT Computationally mapped isoform of Charged multivesicular body protein 1A OS=Rattus norvegicus OX=10116 GN=Chmp1a PE=1 SV=2 CANONICAL=A0A8I6GLB8-1" }, "locus": { "chromosome": "19", "start_pos": 51246361, "end_pos": 51239589, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000021483.5", "url": "https://www.ensembl.org/id/ENSRNOT00000021483.5" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000021475.4", "url": "https://www.ensembl.org/id/ENSRNOP00000021475.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [ { "id": "rno:365024", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:365024", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 16, "go_terms": [ { "name": "ESCRT III complex", "id": "GO:0000815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000815", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "kinetochore microtubule", "id": "GO:0005828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005828", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "condensed nuclear chromosome", "id": "GO:0000794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000794", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "multivesicular body membrane", "id": "GO:0032585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032585", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "amphisome membrane", "id": "GO:1904930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904930", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 21, "go_terms": [ { "name": "plasma membrane repair", "id": "GO:0001778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001778", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "regulation of centrosome duplication", "id": "GO:0010824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010824", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "nuclear membrane reassembly", "id": "GO:0031468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031468", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "viral budding via host ESCRT complex", "id": "GO:0039702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039702", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "multivesicular body sorting pathway", "id": "GO:0071985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071985", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "mitotic chromosome condensation", "id": "GO:0007076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007076", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "mitotic metaphase plate congression", "id": "GO:0007080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007080", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "late endosome to lysosome transport", "id": "GO:1902774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902774", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "late endosome to vacuole transport", "id": "GO:0045324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045324", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "nucleus organization", "id": "GO:0006997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006997", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "endosome transport via multivesicular body sorting pathway", "id": "GO:0032509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032509", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway", "id": "GO:0043162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043162", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "viral budding from plasma membrane", "id": "GO:0046761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046761", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" }, { "name": "midbody abscission", "id": "GO:0061952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061952", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GLB8", "url": "https://www.uniprot.org/uniprot/A0A8I6GLB8" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ 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