{ "uniprot_canonical_ac": "P04792-1", "uniprot_ac": "P04792", "uniprot_id": "HSPB1_HUMAN", "mass": { "chemical_mass": 22783.0, "monoisotopic_mass": 22783.0 }, "refseq": { "ac": "NP_001531", "name": "heat shock protein beta-1", "summary": "This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001531" }, "gene_names": [ { "name": "HSPB1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04792", "id": "P04792" }, { "name": "CMT2F; HEL-S-102; HMN2B; HMND3; HS.76067; Hsp25; HSP27; HSP28; SRP27", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001531", "id": "NP_001531" }, { "name": "HSP27", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04792", "id": "P04792" }, { "name": "HSP28", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04792", "id": "P04792" }, { "name": "HSPB1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001531", "id": "NP_001531" } ], "protein_names": [ { "name": "Heat shock protein beta-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04792" }, { "name": "28 kDa heat shock protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04792" }, { "name": "Estrogen-regulated 24 kDa protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04792" }, { "name": "HSP 27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04792" }, { "name": "Heat shock 27 kDa protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04792" }, { "name": "HspB1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04792" }, { "name": "SRP27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04792" }, { "name": "Stress-responsive protein 27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04792" }, { "name": "heat shock 27kD protein 1; stress-responsive protein 27; epididymis secretory protein Li 102; estrogen-regulated 24 kDa protein; 28 kDa heat shock protein; heat shock 27 kDa protein; heat shock 27kDa protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001531", "id": "NP_001531" }, { "name": "heat shock protein beta-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001531", "id": "NP_001531" } ], "function": [ { "annotation": "Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.", "evidence": [ { "database": "RefSeq", "id": "NP_001531", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001531" }, { "database": "PubMed", "id": "37249095", "url": "https://glygen.org/publication/PubMed/37249095" } ] }, { "annotation": "Heat shock protein 27 in the pathogenesis of COVID-19 and non-COVID acute respiratory distress syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001531", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001531" }, { "database": "PubMed", "id": "37966617", "url": "https://glygen.org/publication/PubMed/37966617" } ] }, { "annotation": "High HSPB1 expression predicts poor clinical outcomes and correlates with breast cancer metastasis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001531", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001531" }, { "database": "PubMed", "id": "37268925", "url": "https://glygen.org/publication/PubMed/37268925" } ] }, { "annotation": "Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state (PubMed:10383393, PubMed:20178975). Plays a role in stress resistance and actin organization (PubMed:19166925). Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins (PubMed:23728742).", "evidence": [ { "database": "UniProtKB", "id": "P04792", "url": "https://www.uniprot.org/uniprot/P04792#function" }, { "database": "PubMed", "id": "19166925", "url": "https://glygen.org/publication/PubMed/19166925" }, { "database": "PubMed", "id": "23728742", "url": "https://glygen.org/publication/PubMed/23728742" }, { "database": "PubMed", "id": "10383393", "url": "https://glygen.org/publication/PubMed/10383393" }, { "database": "PubMed", "id": "20178975", "url": "https://glygen.org/publication/PubMed/20178975" } ] }, { "annotation": "The heat shock protein Hsp27 controls mitochondrial function by modulating ceramide generation.", "evidence": [ { "database": "RefSeq", "id": "NP_001531", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001531" }, { "database": "PubMed", "id": "37689067", "url": "https://glygen.org/publication/PubMed/37689067" } ] }, { "annotation": "This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001531", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001531" } ] } ], "disease": [ { "disease_id": "DOID:0110163", "recommended_name": { "id": "DOID:0110163", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110163", "name": "Charcot-Marie-Tooth disease axonal type 2F", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1)." }, "synonyms": [ { "id": "DOID:0110163", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110163", "name": "CMT2F", "description": "" }, { "id": "DOID:0110163", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110163", "name": "Charcot-Marie-Tooth neuronal type 2F", "description": "" }, { "id": "DOID:0110163", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110163", "name": "Charcot-Marie-Tooth neuropathy type 2F", "description": "" }, { "id": "DOID:0110163", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110163", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth disease axonal type 2F", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "CMT2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth neuronal type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth neuropathy type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "HSPB1 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"https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth disease, neuronal, type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth neuropathy, type 2F", "description": "" }, { "id": "MIM:606595", "resource": "MIM", "url": "https://www.omim.org/entry/606595", "name": "Charcot-Marie-Tooth disease, axonal, 2F", "description": "Charcot-Marie-Tooth disease, axonal, 2F" } ], "evidence": [ { "id": "606595", "database": "MIM", "url": "https://www.omim.org/entry/606595" } ] }, { "disease_id": "DOID:0111207", "recommended_name": { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111207", "name": "distal hereditary motor neuronopathy type 2B", "description": "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB1 on 7q11.23." }, "synonyms": [ { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111207", "name": "HMN IIB", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111207", "name": "HMN2B", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111207", "name": "distal hereditary motor neuropathy type IIB", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor, type 2B", "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "HSPB1 neuronopathy, distal hereditary motor", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor caused by mutation in HSPB1", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "HMN 2B", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "HMN2B", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor, type IIB", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuropathy, distal hereditary motor, type 2B", "description": "" }, { "id": "MIM:608634", "resource": "MIM", "url": "https://www.omim.org/entry/608634", "name": "Neuronopathy, distal hereditary motor, 2B", "description": "Neuronopathy, distal hereditary motor, 2B" } ], "evidence": [ { "id": "608634", "database": "MIM", "url": "https://www.omim.org/entry/608634" } ] } ], "snv": [ { "evidence": [ { "id": "rs1193492001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193492001" }, { "id": "rs1193492001", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193492001" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 174, "end_pos": 174, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "7", "chr_pos": "76304046", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T174", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1431930864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431930864" }, { "id": "rs1431930864", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1431930864#frequency_tab" }, { "id": "rs1431930864", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431930864" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 174, "end_pos": 174, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "7", "chr_pos": "76304076", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T174", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1032400275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1032400275" }, { "id": "rs1032400275", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1032400275#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 174, "end_pos": 174, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "7", "chr_pos": "76304045", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T174", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1422978230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422978230" }, { "id": "rs1422978230", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1422978230#frequency_tab" }, { "id": "rs1422978230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1422978230" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 180, "end_pos": 180, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "7", "chr_pos": "76304094", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T180", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110163", "recommended_name": { "id": 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CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "CMT2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth neuronal type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth neuropathy type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "HSPB1 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"https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth disease, neuronal, type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth neuropathy, type 2F", "description": "" }, { "id": "MIM:606595", "resource": "MIM", "url": "https://www.omim.org/entry/606595", "name": "Charcot-Marie-Tooth disease, axonal, 2F", "description": "Charcot-Marie-Tooth disease, axonal, 2F" } ] }, { "disease_id": "DOID:0111207", "recommended_name": { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111207", "name": "distal hereditary motor neuronopathy type 2B", "description": "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB1 on 7q11.23." }, "synonyms": [ { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111207", "name": "HMN IIB", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111207", "name": "HMN2B", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111207", "name": "distal hereditary motor neuropathy type IIB", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor, type 2B", "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "HSPB1 neuronopathy, distal hereditary motor", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal 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neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "CMT2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth neuronal type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth neuropathy type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "HSPB1 Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "CMT 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot Marie Tooth disease type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth disease type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth disease, axonal, type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth disease, neuronal, type 2F", "description": "" }, { "id": "MONDO:0011687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011687", "name": "Charcot-Marie-Tooth neuropathy, type 2F", "description": "" }, { "id": "MIM:606595", "resource": "MIM", "url": "https://www.omim.org/entry/606595", "name": "Charcot-Marie-Tooth disease, axonal, 2F", "description": "Charcot-Marie-Tooth disease, axonal, 2F" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "mutagenesis": [ { "start_pos": 15, "end_pos": 15, "sequence_org": "S", "sequence_mut": "D", "comment": "Mimicks phosphorylation state, leading to dreased ability to act as molecular chaperones; when associated with D-78 and D-82.", "evidence": [ { "database": "UniProtKB", "id": "P04792", "url": "https://www.uniprot.org/uniprot/P04792" }, { "database": "PubMed", "id": "10383393", "url": "https://glygen.org/publication/PubMed/10383393" } ] }, { "start_pos": 78, "end_pos": 78, "sequence_org": "S", "sequence_mut": "D", "comment": "Mimicks phosphorylation state, leading to dreased ability to act as molecular chaperones; when associated with D-15 and D-82.", "evidence": [ { "database": "UniProtKB", "id": "P04792", "url": "https://www.uniprot.org/uniprot/P04792" }, { "database": "PubMed", "id": "10383393", "url": "https://glygen.org/publication/PubMed/10383393" } ] }, { "start_pos": 82, "end_pos": 82, "sequence_org": "S", "sequence_mut": "D", "comment": "Mimicks phosphorylation state, leading to dreased ability to act as molecular chaperones; when associated with D-15 and D-78.", "evidence": [ { "database": "UniProtKB", "id": "P04792", "url": "https://www.uniprot.org/uniprot/P04792" }, { "database": "PubMed", "id": "10383393", "url": "https://glygen.org/publication/PubMed/10383393" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "99.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "99.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "98.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "99.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106211" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P04792", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04792" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "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": 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"categories": [ "Protein" ] }, { "id": "P04792", "url": "https://www.uniprot.org/uniprot/P04792", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04792-1", "url": "https://www.uniprot.org/uniprot/P04792-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITGKHEERQDEHGYISRCFTRKYTLPPGVDPTQVSSSLSPEGTLTVEAPMPKLATQSNEITIPVTFESRAQLGGPEAAKSDETAAK", "length": 205, "header": "sp|P04792-1|HSPB1_HUMAN Isoform 1 of Heat shock protein beta-1 OS=Homo sapiens OX=9606 GN=HSPB1 PE=1 SV=2 CANONICAL=P04792-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PF43-1", "url": "", "sequence": { "sequence": "MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITGCPPVWTPPKFPPPCPLRAH", "length": 141, "header": "tr|A0A6Q8PF43-1|A0A6Q8PF43_HUMAN Computationally mapped isoform of Heat shock protein family B (small) member 1 OS=Homo sapiens OX=9606 GN=HSPB1 PE=1 SV=1 CANONICAL=P04792-1" }, "locus": { "chromosome": "7", "start_pos": 76304042, "end_pos": 76302713, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674650.1", "url": "https://www.ensembl.org/id/ENST00000674650.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501628.1", "url": "https://www.ensembl.org/id/ENSP00000501628.1" } ] } }, { "isoform_ac": "A0A6Q8PFE7-1", "url": "", "sequence": { "sequence": "MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITV", "length": 122, "header": "tr|A0A6Q8PFE7-1|A0A6Q8PFE7_HUMAN Computationally mapped isoform of Heat shock protein family B (small) member 1 OS=Homo sapiens OX=9606 GN=HSPB1 PE=1 SV=1 CANONICAL=P04792-1" }, "locus": { "chromosome": "7", "start_pos": 76303778, "end_pos": 76302713, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674965.1", "url": "https://www.ensembl.org/id/ENST00000674965.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501765.1", "url": "https://www.ensembl.org/id/ENSP00000501765.1" } ] } }, { "isoform_ac": "A0A6Q8PFK8-1", "url": "", "sequence": { "sequence": "MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITGKHEERQDEHGYISRLPPGVDPTQVSSSLSPEGTLTVEAPMPKLATQSNEITIPVTFESRAQLGGPEAAKSDETAAK", "length": 198, "header": "tr|A0A6Q8PFK8-1|A0A6Q8PFK8_HUMAN Computationally mapped isoform of Heat shock protein family B (small) member 1 OS=Homo sapiens OX=9606 GN=HSPB1 PE=1 SV=1 CANONICAL=P04792-1" }, "locus": { "chromosome": "7", "start_pos": 76304170, "end_pos": 76302713, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675134.1", "url": "https://www.ensembl.org/id/ENST00000675134.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501831.1", "url": "https://www.ensembl.org/id/ENSP00000501831.1" } ] } }, { "isoform_ac": "A0A6Q8PGK1-1", "url": "", "sequence": { "sequence": "MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITACSPGCFQAGGKHEERQDEHGYISRCFTRKYTLPPGVDPTQVSSSLSPEGTLTVEAPMPKLATQSNEITIPVTFESRAQLGGPEAAKSDETAAK", "length": 215, "header": "tr|A0A6Q8PGK1-1|HSPB1_HUMAN Computationally mapped isoform of Heat shock protein beta-1 OS=Homo sapiens OX=9606 GN=HSPB1 PE=1 SV=1 CANONICAL=P04792-1" }, "locus": { "chromosome": "7", "start_pos": 76304170, "end_pos": 76302713, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676231.1", "url": "https://www.ensembl.org/id/ENST00000676231.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502249.1", "url": "https://www.ensembl.org/id/ENSP00000502249.1" } ] } }, { "isoform_ac": "A0A6Q8PGY2-1", "url": "", "sequence": { "sequence": "MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITGEPPCSCRGEEEASTRSGRTSMATSPGASRGNTRCPPVWTPPKFPPPCPLRAH", "length": 174, "header": "tr|A0A6Q8PGY2-1|HSPB1_HUMAN Computationally mapped isoform of Heat shock protein beta-1 OS=Homo sapiens OX=9606 GN=HSPB1 PE=1 SV=1 CANONICAL=P04792-1" }, "locus": { "chromosome": "7", "start_pos": 76304042, "end_pos": 76302713, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675538.1", "url": "https://www.ensembl.org/id/ENST00000675538.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502495.1", "url": "https://www.ensembl.org/id/ENSP00000502495.1" } ] } }, { "isoform_ac": "A0A6Q8PH65-1", "url": "", "sequence": { "sequence": "MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITGDTRSGRTSMATSPGASRGNTRCPPVWTPPKFPPPCPLRAH", "length": 162, "header": "tr|A0A6Q8PH65-1|A0A6Q8PH65_HUMAN Computationally mapped isoform of Heat shock protein family B (small) member 1 OS=Homo sapiens OX=9606 GN=HSPB1 PE=1 SV=1 CANONICAL=P04792-1" }, "locus": { "chromosome": "7", "start_pos": 76304042, "end_pos": 76302713, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675226.1", "url": "https://www.ensembl.org/id/ENST00000675226.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502510.1", "url": "https://www.ensembl.org/id/ENSP00000502510.1" } ] } }, { "isoform_ac": "A0A6Q8PHA6-1", "url": "", "sequence": { "sequence": "MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITARGAAGRAWLHLPVLHAEIHAAPRCGPHPSFLLPVP", "length": 157, "header": "tr|A0A6Q8PHA6-1|HSPB1_HUMAN Computationally mapped isoform of Heat shock protein beta-1 OS=Homo sapiens OX=9606 GN=HSPB1 PE=1 SV=1 CANONICAL=P04792-1" }, "locus": { "chromosome": "7", "start_pos": 76304031, "end_pos": 76302713, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674638.1", "url": "https://www.ensembl.org/id/ENST00000674638.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502651.1", "url": "https://www.ensembl.org/id/ENSP00000502651.1" } ] } }, { "isoform_ac": "A0A6Q8PHJ6-1", "url": "", "sequence": { "sequence": "MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITGKHEERQDEHGYISRCFTRKYT", "length": 143, "header": "tr|A0A6Q8PHJ6-1|A0A6Q8PHJ6_HUMAN Computationally mapped isoform of Heat shock protein family B (small) member 1 OS=Homo sapiens OX=9606 GN=HSPB1 PE=1 SV=1 CANONICAL=P04792-1" }, "locus": { "chromosome": "7", "start_pos": 76303866, "end_pos": 76302713, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674547.1", "url": "https://www.ensembl.org/id/ENST00000674547.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502461.1", "url": "https://www.ensembl.org/id/ENSP00000502461.1" } ] } }, { "isoform_ac": "C9J3N8-1", "url": "", "sequence": { "sequence": "MPKLATQSNEITIPVTFESRAQLGGPEAAKSDETAAK", "length": 37, "header": "tr|C9J3N8-1|C9J3N8_HUMAN Computationally mapped isoform of Putative heat shock protein family B member 1 isoform OS=Homo sapiens OX=9606 GN=HSPB1 PE=1 SV=1 CANONICAL=P04792-1" }, "locus": { "chromosome": "7", "start_pos": 76304170, "end_pos": 76304060, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429938.1", "url": "https://www.ensembl.org/id/ENST00000429938.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000405285.1", "url": "https://www.ensembl.org/id/ENSP00000405285.1" } ] } }, { "isoform_ac": "P04792-1", "url": "", "sequence": { "sequence": "MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITGKHEERQDEHGYISRCFTRKYTLPPGVDPTQVSSSLSPEGTLTVEAPMPKLATQSNEITIPVTFESRAQLGGPEAAKSDETAAK", "length": 205, "header": "sp|P04792-1|HSPB1_HUMAN Isoform 1 of Heat shock protein beta-1 OS=Homo sapiens OX=9606 GN=HSPB1 PE=1 SV=2 CANONICAL=P04792-1" }, "locus": { "chromosome": "7", "start_pos": 76304170, "end_pos": 76302713, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000248553.7", "url": "https://www.ensembl.org/id/ENST00000248553.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000248553.6", "url": "https://www.ensembl.org/id/ENSP00000248553.6" } ] } } ], "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": 174, "start_aa": "Thr", "end_pos": 174, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr174", "evidence": [ { "id": "P04792", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04792" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "33723378", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33723378" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "37540114", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37540114" }, { "id": "30106436", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30106436" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "22664592", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22664592" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "26374642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26374642" }, { "id": "18369606", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18369606" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "22322011", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22322011" }, { "id": "P04792", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04792" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 176, "start_aa": "Ser", "end_pos": 176, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser176", "evidence": [ { "id": "P04792", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04792" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "33723378", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33723378" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "37540114", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37540114" }, { "id": "30106436", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30106436" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "22664592", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22664592" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "33214551", 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