{ "uniprot_canonical_ac": "P12036-1", "uniprot_ac": "P12036", "uniprot_id": "NFH_HUMAN", "mass": { "chemical_mass": 112479.0, "monoisotopic_mass": 112479.0 }, "refseq": { "ac": "NP_066554", "name": "neurofilament heavy polypeptide", "summary": "Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554" }, "gene_names": [ { "name": "NEFH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12036", "id": "P12036" }, { "name": "CMT2CC; NFH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554", "id": "NP_066554" }, { "name": "KIAA0845", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12036", "id": "P12036" }, { "name": "NEFH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554", "id": "NP_066554" }, { "name": "NFH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12036", "id": "P12036" } ], "protein_names": [ { "name": "Neurofilament heavy polypeptide", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12036" }, { "name": "200 kDa neurofilament protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12036" }, { "name": "NF-H", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12036" }, { "name": "Neurofilament triplet H protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12036" }, { "name": "neurofilament heavy polypeptide", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554", "id": "NP_066554" }, { "name": "neurofilament, heavy polypeptide 200kDa; neurofilament triplet H protein; NF-H; 200 kDa neurofilament protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554", "id": "NP_066554" } ], "function": [ { "annotation": "An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.", "evidence": [ { "database": "RefSeq", "id": "NP_066554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554" }, { "database": "PubMed", "id": "35091664", "url": "https://glygen.org/publication/PubMed/35091664" } ] }, { "annotation": "Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.", "evidence": [ { "database": "RefSeq", "id": "NP_066554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554" }, { "database": "PubMed", "id": "34518334", "url": "https://glygen.org/publication/PubMed/34518334" } ] }, { "annotation": "Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_066554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554" }, { "database": "PubMed", "id": "36042248", "url": "https://glygen.org/publication/PubMed/36042248" } ] }, { "annotation": "Myelin basic protein and neurofilament H in postmortem cerebrospinal fluid as surrogate markers of fatal traumatic brain injury.", "evidence": [ { "database": "RefSeq", "id": "NP_066554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554" }, { "database": "PubMed", "id": "33895854", "url": "https://glygen.org/publication/PubMed/33895854" } ] }, { "annotation": "Neurodegeneration Markers in the Cerebrospinal Fluid of 100 Patients with Schizophrenia Spectrum Disorder.", "evidence": [ { "database": "RefSeq", "id": "NP_066554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554" }, { "database": "PubMed", "id": "36200879", "url": "https://glygen.org/publication/PubMed/36200879" } ] }, { "annotation": "Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_066554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554" } ] }, { "annotation": "Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. NEFH has an important function in mature axons that is not subserved by the two smaller NF proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036#function" }, { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprot/P19246#function" } ] } ], "disease": [ { "disease_id": "DOID:0060193", "recommended_name": { "id": "DOID:0060193", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060193", "name": "amyotrophic lateral sclerosis type 1", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS." }, "synonyms": [ { "id": "DOID:0060193", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060193", "name": "ALS1", "description": "" }, { "id": "DOID:0060193", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060193", "name": "amyotrophic lateral sclerosis 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis type 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "ALS1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis type 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "FALS", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal dominant", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal recessive", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, 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"MIM", "url": "https://www.omim.org/entry/105400", "name": "Amyotrophic lateral sclerosis 1", "description": "Amyotrophic lateral sclerosis 1" } ], "evidence": [ { "id": "105400", "database": "MIM", "url": "https://www.omim.org/entry/105400" } ] }, { "disease_id": "DOID:0110180", "recommended_name": { "id": "DOID:0110180", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110180", "name": "Charcot-Marie-Tooth disease axonal type 2CC", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0110180", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110180", "name": "CMT2CC", "description": "" }, { "id": "DOID:0110180", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110180", "name": "Charcot-Marie-Tooth neuropathy type 2CC", "description": "" }, { "id": "MONDO:0014836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014836", "name": "Charcot-Marie-Tooth disease axonal type 2CC", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene." }, { "id": "MONDO:0014836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014836", "name": "CMT2CC", "description": "" }, { "id": "MONDO:0014836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014836", "name": "Charcot-Marie-Tooth disease axonal type 2CC", "description": "" }, { "id": "MONDO:0014836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014836", "name": "Charcot-Marie-Tooth disease caused by mutation in NEFH", "description": "" }, { "id": "MONDO:0014836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014836", "name": "Charcot-Marie-Tooth disease, axonal, type 2cc", "description": "" }, { "id": "MONDO:0014836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014836", "name": "Charcot-Marie-Tooth neuropathy type 2CC", "description": "" }, { "id": "MONDO:0014836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014836", "name": "NEFH Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0014836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014836", "name": "Charcot-Marie-Tooth disease, axonal, type 2CC", "description": "" }, { "id": "MONDO:0014836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014836", "name": "Charcot-Marie-Tooth neuropathy, type 2Cc", "description": "" }, { "id": "MIM:616924", "resource": "MIM", "url": "https://www.omim.org/entry/616924", "name": "Charcot-Marie-Tooth disease, axonal, 2CC", "description": "Charcot-Marie-Tooth disease, axonal, 2CC" } ], "evidence": [ { "id": "616924", "database": "MIM", "url": "https://www.omim.org/entry/616924" } ] }, { "disease_id": 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"https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12036", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12036" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P12036", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12036" } ], "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": 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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": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "common_name": "Human" } ], "gene": [ { "name": "NEFH", "url": "https://www.uniprot.org/uniprot/P12036", "locus": { "chromosome": "22", "start_pos": 29491390, "end_pos": 29480218, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000100285", "url": "https://www.ensembl.org/id/ENSG00000100285" } ] } } ], "crossref": [ { "id": "ENSG00000100285", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100285", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "NEFH", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEFH", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4744", "url": "https://www.ncbi.nlm.nih.gov/gene/4744", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "7737", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7737", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P12036", "url": "https://www.ebi.ac.uk/intact/interactors/id:P12036*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR010790", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010790", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018039", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018039", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033183", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033183", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039008", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039008", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4744", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4744", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "105400", "url": "http://www.omim.org/entry/105400", "database": "MIM", "categories": [ "Other" ] }, { "id": "162230", "url": "http://www.omim.org/entry/162230", "database": "MIM", "categories": [ "Other" ] }, { "id": "616924", "url": "http://www.omim.org/entry/616924", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P12036", "url": "https://www.nextprot.org/entry/NX_P12036", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P12036", "url": "https://oglcnac.org/atlas/detail/P12036", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P12036", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12036", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "4640531at2759", "url": "http://www.orthodb.org/?query=4640531at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23214", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23214", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23214:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23214:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00038", "url": "http://pfam.xfam.org/family/PF00038", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07142", "url": "http://pfam.xfam.org/family/PF07142", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P12036", "url": "https://pharos.nih.gov/targets/P12036", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P12036", "url": "http://purl.obolibrary.org/obo/PR_P12036", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_066554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12036-1", "url": "https://www.uniprot.org/uniprot/P12036-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12036-2", "url": "https://www.uniprot.org/uniprot/P12036-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGELLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPFSLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKEEEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKSPEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKAKSPEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEARSPADKFPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVKVKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKKEEAEDKKKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEEKAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK", "length": 1026, "header": "sp|P12036-1|NFH_HUMAN Isoform 1 of Neurofilament heavy polypeptide OS=Homo sapiens OX=9606 GN=NEFH PE=1 SV=4 CANONICAL=P12036-1" }, "isoforms": [ { "isoform_ac": "P12036-1", "url": "", "sequence": { "sequence": "MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGELLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPFSLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKEEEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKSPEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKAKSPEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEARSPADKFPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVKVKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKKEEAEDKKKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEEKAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK", "length": 1026, "header": "sp|P12036-1|NFH_HUMAN Isoform 1 of Neurofilament heavy polypeptide OS=Homo sapiens OX=9606 GN=NEFH PE=1 SV=4 CANONICAL=P12036-1" }, "locus": {} }, { "isoform_ac": "P12036-2", "url": "", "sequence": { "sequence": "MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGELLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPFSLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKEEEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKSPEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKAKSPEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKTPEKAKSPVKEEAKAPEKEIPKKEEVKSPVKEEEKPQEVKVKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKKEEAEDKKKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEEKAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK", "length": 963, "header": "sp|P12036-2|NFH_HUMAN Isoform 2 of Neurofilament heavy polypeptide OS=Homo sapiens OX=9606 GN=NEFH PE=1 SV=4 CANONICAL=P12036-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 268, "start_aa": "Thr", "end_pos": 268, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr268", "evidence": [ { "id": "P12036", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12036" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 329, "start_aa": "Thr", "end_pos": 329, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr329", "evidence": [ { "id": "P12036", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12036" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 330, "start_aa": "Thr", "end_pos": 330, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr330", "evidence": [ { "id": "P12036", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12036" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 421, "start_aa": "Ser", "end_pos": 421, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser421", "evidence": [ { "id": "P12036", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12036" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 532, "start_aa": "Ser", "end_pos": 532, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser532", "evidence": [ { "id": "P12036", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12036" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "P12036", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12036" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 54, "start_aa": "Ser", "end_pos": 54, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser54", "evidence": [ { "id": "P12036", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12036" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "P12036", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12036" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 56, "start_aa": "Ser", "end_pos": 56, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser56", "evidence": [ { "id": "P12036", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12036" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 642, "start_aa": "Thr", "end_pos": 642, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr642", "evidence": [ { "id": "P12036", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12036" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "P12036", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12036" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 648, "start_aa": "Ser", "end_pos": 648, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser648", "evidence": [ { "id": "P12036", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12036" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "P12036", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12036" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": 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"http://research.bioinformatics.udel.edu/iptmnet/entry/P12036" } ], "reference": [ { "type": "PubMed", "id": "18510355", "url": "https://glygen.org/publication/PubMed/18510355" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" }, { "database": "iPTMnet", "id": "P12036", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12036" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Cryptic amyloidogenic elements in the 3' UTRs of neurofilament genes trigger axonal neuropathy.", "journal": "Am. J. Hum. Genet.", "date": "2016", "authors": "Rebelo Adriana P, Abrams Alexander J, Cottenie Ellen, Horga Alejandro, Gonzalez Michael, Bis Dana M, Sanchez-Mejias Avencia, Pinto Milena, Buglo Elena, Markel Kasey, Prince Jeffrey, Laura Matilde, Houlden Henry, Blake Julian, Woodward Cathy, Sweeney Mary G, Holton Janice L, Hanna Michael, Dallman Julia E, Auer-Grumbach Michaela, Reilly Mary M, Zuchner Stephan", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "reference": [ { "type": "PubMed", "id": "27040688", "url": "https://glygen.org/publication/PubMed/27040688" } ] }, { "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": "P12036", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12036" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "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": "P12036", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12036" }, { "database": "O-GlcNAc Atlas", "id": "P12036", "url": "https://oglcnac.org/atlas/detail/P12036" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12036", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12036" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it.", "journal": "EMBO J.", "date": "1988", "authors": "Lees JF, Shneidman PS, Skuntz SF, Carden MJ, Lazzarini RA", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "reference": [ { "type": "PubMed", "id": "3138108", "url": "https://glygen.org/publication/PubMed/3138108" } ] }, { "title": "Myelin basic protein and neurofilament H in postmortem cerebrospinal fluid as surrogate markers of fatal traumatic brain injury.", "journal": "International journal of legal medicine", "date": "2021", "authors": "Bohnert S, Wirth C, Schmitz W, Trella S, Monoranu CM, Ondruschka B, Bohnert M", "evidence": [ { "database": "RefSeq", "id": "NP_066554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554" } ], "reference": [ { "type": "PubMed", "id": "33895854", "url": "https://glygen.org/publication/PubMed/33895854" } ] }, { "title": "Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.", "journal": "Journal of neurology, neurosurgery, and psychiatry", "date": "2022", "authors": "Pipis M, Cortese A, Polke JM, Poh R, Vandrovcova J, Laura M, Skorupinska M, Jacquier A, Juntas-Morales R, Latour P, Petiot P, Sole G, Fromes Y, Shah S, Blake J, Choi BO, Chung KW, Stojkovic T, Rossor AM, Reilly MM", "evidence": [ { "database": "RefSeq", "id": "NP_066554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554" } ], "reference": [ { "type": "PubMed", "id": "34518334", "url": "https://glygen.org/publication/PubMed/34518334" } ] }, { "title": "An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.", "journal": "Journal of human genetics", "date": "2022", "authors": "Ando M, Higuchi Y, Okamoto Y, Yuan J, Yoshimura A, Takei J, Taniguchi T, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Matsuura E, Nakagawa H, Sonoda K, Yamashita T, Tamura A, Terasawa H, Mitsui J, Ishiura H, Tsuji S, Takashima H", "evidence": [ { "database": "RefSeq", "id": "NP_066554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554" } ], "reference": [ { "type": "PubMed", "id": "35091664", "url": "https://glygen.org/publication/PubMed/35091664" } ] }, { "title": "Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.", "journal": "Scientific reports", "date": "2022", "authors": "Theunissen F, Anderton RS, Mastaglia FL, James I, Bedlack R, Akkari PA", "evidence": [ { "database": "RefSeq", "id": "NP_066554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554" } ], "reference": [ { "type": "PubMed", "id": "36042248", "url": "https://glygen.org/publication/PubMed/36042248" } ] }, { "title": "Neurodegeneration Markers in the Cerebrospinal Fluid of 100 Patients with Schizophrenia Spectrum Disorder.", "journal": "Schizophrenia bulletin", "date": "2022-10-06", "authors": "Runge Kimon, Balla Agnes, Fiebich Bernd L, Maier Simon J, von Zedtwitz Katharina, Nickel Kathrin, Dersch Rick, Domschke Katharina, Tebartz van Elst Ludger, Endres Dominique", "evidence": [ { "database": "RefSeq", "id": "NP_066554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066554" } ], "reference": [ { "type": "PubMed", "id": "36200879", "url": "https://glygen.org/publication/PubMed/36200879" } ] }, { "title": "Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis.", "journal": "Human molecular genetics", "date": "1994", "authors": "Figlewicz DA, Krizus A, Martinoli MG, Meininger V, Dib M, Rouleau GA, Julien JP", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "reference": [ { "type": "PubMed", "id": "7849698", "url": "https://glygen.org/publication/PubMed/7849698" } ] }, { "title": "PKN associates and phosphorylates the head-rod domain of neurofilament protein.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M, Sunakawa H, Ono Y", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "reference": [ { "type": "PubMed", "id": "8621664", "url": "https://glygen.org/publication/PubMed/8621664" } ] }, { "title": "Mitogen-activated protein kinases (Erk1,2) phosphorylate Lys-Ser-Pro (KSP) repeats in neurofilament proteins NF-H and NF-M.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "1998", "authors": "Veeranna, Amin ND, Ahn NG, Jaffe H, Winters CA, Grant P, Pant HC", "evidence": [ { "database": "iPTMnet", "id": "P12036", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12036" } ], "reference": [ { "type": "PubMed", "id": "9592082", "url": "https://glygen.org/publication/PubMed/9592082" } ] } ], "pathway": [ { "id": "hsa:4744", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4744", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P16884-1", "protein_name": "Neurofilament heavy polypeptide", "gene_name": "Nefh", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MMSFGSADALLGAPFAPLHGGGSLHYALSRKAGAGGTRSAAGSSSGFHSWARTSVSSVSASPSRFRGAASSTDSLDTLSNGPEGCVAAVAARSEKEQLQALNDRFAGYIDKVRQLEAHNRTLEGEAAALRQQKGRAAMGELYEREVREMRGAVLRLGAARGHVRLEQEHLLEDIAHVRQRLDEEARQREEAEAAARALARFAQEAEAARVELQKKAQALQEECGYLRRHHQEEVGELLGQIQGCGAAQAQAQAEARDALKCDVTSALREIRAQLEGHTVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKESLERQRSELEDRHQVDMASYQDAIQQLDNELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPSPFSLTEGLPKIPSMSTHIKVKSEEKIKVVEKSEKETVIVEEQTEEIQVTEEVTEEEDKEAQGEEEEEAEEGGEEAATTSPPAEEAASPEKETKSPVKEEAKSPAEAKSPAEAKSPAEAKSPAEVKSPAEVKSPAEAKSPAEAKSPAEVKSPAEVKSPAEAKSPAEAKSPAEVKSPATVKSPGEAKSPAEAKSPAEVKSPVEAKSPAEAKSPASVKSPGEAKSPAEAKSPAEVKSPATVKSPVEAKSPAEVKSPVTVKSPAEAKSPVEVKSPASVKSPSEAKSPAGAKSPAEAKSPVVAKSPAEAKSPAEAKPPAEAKSPAEAKSPAEAKSPAEAKSPAEAKSPVEVKSPEKAKSPVKEGAKSLAEAKSPEKAKSPVKEEIKPPAEVKSPEKAKSPMKEEAKSPEKAKTLDVKSPEAKTPAKEEAKRPADIRSPEQVKSPAKEEAKSPEKEETRTEKVAPKKEEVKSPVEEVKAKEPPKKVEEEKTPATPKTEVKESKKDEAPKEAQKPKAEEKEPLTEKPKDSPGEAKKEEAKEKKAAAPEEETPAKLGVKEEAKPKEKAEDAKAKEPSKPSEKEKPKKEEVPAAPEKKDTKEEKTTESKKPEEKPKMEAKAKEEDKGLPQEPSKPKTEKAEKSSSTDQKDSQPSEKAPEDKAAKGDK", "length": 1072 }, "evidence": [ { "id": "45935074", "url": "http://www.informatics.jax.org/homology/45935074", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P19246-1", "protein_name": "Neurofilament heavy polypeptide", "gene_name": "Nefh", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MMSFGSADALLGAPFAPLHGGGSLHYSLSRKAGPGGTRSAAGSSSGFHSWARTSVSSVSASPSRFRGAASSTDSLDTLSNGPEGCVVAAVAARSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRAAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAHVRQRLDEEARQREEAEAAARALARFAQEAEAARVELQKKAQALQEECGYLRRHHQEEVGELLGQIQGCGAAQAQAQAEARDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKESLERQRSELEDRHQADIASYQDAIQQLDSELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPSPFSLTEGLPKIPSISTHIKVKSEEMIKVVEKSEKETVIVEGQTEEIRVTEGVTEEEDKEAQGQEGEEAEEGEEKEEEEGAAATSPPAEEAASPEKETKSRVKEEAKSPGEAKSPGEAKSPAEAKSPGEAKSPGEAKSPGEAKSPAEPKSPAEPKSPAEAKSPAEPKSPATVKSPGEAKSPSEAKSPAEAKSPAEAKSPAEAKSPAEAKSPAEAKSPAEAKSPATVKSPGEAKSPSEAKSPAEAKSPAEAKSPAEAKSPAEVKSPGEAKSPAEPKSPAEAKSPAEVKSPAEAKSPAEVKSPGEAKSPAAVKSPAEAKSPAAVKSPGEAKSPGEAKSPAEAKSPAEAKSPIEVKSPEKAKTPVKEGAKSPAEAKSPEKAKSPVKEDIKPPAEAKSPEKAKSPVKEGAKPPEKAKPLDVKSPEAQTPVQEEAKHPTDIRPPEQVKSPAKEKAKSPEKEEAKTSEKVAPKKEEVKSPVKEEVKAKEPPKKVEEEKTLPTPKTEAKESKKDEAPKEAPKPKVEEKKETPTEKPKDSTAEAKKEEAGEKKKAVASEEETPAKLGVKEEAKPKEKTETTKTEAEDTKAKEPSKPTETEKPKKEEMPAAPEKKDTKEEKTTESRKPEEKPKMEAKVKEDDKSLSKEPSKPKTEKAEKSSSTDQKESQPPEKTTEDKATKGEK", "length": 1090 }, "evidence": [ { "id": "45935074", "url": "http://www.informatics.jax.org/homology/45935074", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "intermediate filament bundle assembly", "id": "GO:0045110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045110", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "peripheral nervous system neuron axonogenesis", "id": "GO:0048936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048936", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "neurofilament cytoskeleton organization", "id": "GO:0060052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060052", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "neurofilament bundle assembly", "id": "GO:0033693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033693", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "regulation of organelle transport along microtubule", "id": "GO:1902513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902513", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "postsynaptic modulation of chemical synaptic transmission", "id": "GO:0099170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099170", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "dynein complex binding", "id": "GO:0070840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070840", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "structural constituent of postsynaptic intermediate filament cytoskeleton", "id": "GO:0099184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099184", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "neurofilament", "id": "GO:0005883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005883", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "postsynaptic intermediate filament cytoskeleton", "id": "GO:0099160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099160", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "neurofibrillary tangle", "id": "GO:0097418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097418", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 122, "end_pos": 124, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" }, { "database": "PubMed", "id": "8621664", "url": "https://glygen.org/publication/PubMed/8621664" } ] }, { "annotation": "Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function.", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" }, { "database": "PubMed", "id": "8621664", "url": "https://glygen.org/publication/PubMed/8621664" } ] }, { "annotation": "There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.", "evidence": [ { "database": "UniProtKB", "id": "P12036", "url": "https://www.uniprot.org/uniprot/P12036" }, { "database": "PubMed", "id": "8621664", "url": "https://glygen.org/publication/PubMed/8621664" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 54, 56, 268, 329, 330, 421, 532, 642, 648, 801, 807 ], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 76, 124, 347, 421, 501, 503, 511, 518, 526, 532, 540, 546, 552, 560, 566, 574, 580, 586, 594, 600, 606, 614, 620, 628, 634, 640, 648, 654, 660, 668, 674, 682, 688, 696, 702, 710, 724, 730, 744, 752, 758, 769, 774, 793, 801, 828, 894 ], "sequon_annotation_sites": [ { "start_pos": 122, "end_pos": 124 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 11 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 11 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 11 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 11 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 50 }, { "field": "total_sites", "count": 47 } ], "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }