{ "uniprot_canonical_ac": "O43462-1", "uniprot_ac": "O43462", "uniprot_id": "MBTP2_HUMAN", "mass": { "chemical_mass": 57444.0, "monoisotopic_mass": 57444.0 }, "refseq": { "ac": "NP_056968", "name": "membrane-bound transcription factor site-2 protease", "summary": "This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968" }, "gene_names": [ { "name": "MBTPS2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43462", "id": "O43462" }, { "name": "BRESEK; IFAP; KFSD; KFSDX; OI19; OLMSX; S2P", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968", "id": "NP_056968" }, { "name": "MBTPS2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968", "id": "NP_056968" }, { "name": "S2P", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43462", "id": "O43462" } ], "protein_names": [ { "name": "Membrane-bound transcription factor site-2 protease", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43462" }, { "name": "3.4.24.85", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43462" }, { "name": "Endopeptidase S2P", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43462" }, { "name": "SREBPs intramembrane protease", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43462" }, { "name": "Sterol regulatory element-binding proteins intramembrane protease", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43462" }, { "name": "membrane-bound transcription factor protease, site 2; endopeptidase S2P; SREBPs intramembrane protease; sterol regulatory element-binding proteins intramembrane protease; keratosis follicularis spinulosa decalvans; site-2 protease", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968", "id": "NP_056968" }, { "name": "membrane-bound transcription factor site-2 protease", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968", "id": "NP_056968" } ], "function": [ { "annotation": "Assign the IFAP syndrome locus to the 5.4 Mb region between DXS989 and DXS8019 on Xp22.11-p22.13 and provide evidence that missense mutations of membrane-bound transcription factor protease, site 2 (MBTPS2) are associated with this phenotype", "evidence": [ { "database": "RefSeq", "id": "NP_056968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968" }, { "database": "PubMed", "id": "19361614", "url": "https://glygen.org/publication/PubMed/19361614" } ] }, { "annotation": "MBTPS2 mutation is associated with Retinal venous tortuosity.", "evidence": [ { "database": "RefSeq", "id": "NP_056968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968" }, { "database": "PubMed", "id": "30589367", "url": "https://glygen.org/publication/PubMed/30589367" } ] }, { "annotation": "MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_056968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968" }, { "database": "PubMed", "id": "33743732", "url": "https://glygen.org/publication/PubMed/33743732" } ] }, { "annotation": "Study reports a novel missense mutation c.638C>T (p.Ser213Leu) in MBTPS2 in a large Chinese family with keratosis follicularis spinulosa decalvans.", "evidence": [ { "database": "RefSeq", "id": "NP_056968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968" }, { "database": "PubMed", "id": "29951998", "url": "https://glygen.org/publication/PubMed/29951998" } ] }, { "annotation": "Study reports a three-generation Chinese pedigree with a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome caused by a novel hemizygous missense mutation c.1494G>T (p.Leu498Phe) in exon 11 of MBTPS2.", "evidence": [ { "database": "RefSeq", "id": "NP_056968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968" }, { "database": "PubMed", "id": "30294811", "url": "https://glygen.org/publication/PubMed/30294811" } ] }, { "annotation": "This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_056968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968" } ] }, { "annotation": "This study identified a direct regulatory effect of MBTPS2 on TRPV3 which can partially contribute to the overlapping clinical features of IFAP and Olmsted syndromes under a common signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_056968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968" }, { "database": "PubMed", "id": "28717930", "url": "https://glygen.org/publication/PubMed/28717930" } ] }, { "annotation": "Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:11163209, PubMed:10805775). Catalyzes the second step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2: cleaves SREBPs within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached (PubMed:10805775, PubMed:27380894, PubMed:9659902). Mature N-terminal SREBP fragments shuttle to the nucleus and activate gene transcription (PubMed:10805775, PubMed:27380894, PubMed:9659902). Also mediates the second step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:11163209). Involved in intramembrane proteolysis during bone formation (PubMed:27380894). In astrocytes and osteoblasts, upon DNA damage and ER stress, mediates the second step of the regulated intramembrane proteolytic activation of the transcription factor CREB3L1, leading to the inhibition of cell-cycle progression (PubMed:16417584).", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462#function" }, { "database": "PubMed", "id": "10805775", "url": "https://glygen.org/publication/PubMed/10805775" }, { "database": "PubMed", "id": "11163209", "url": "https://glygen.org/publication/PubMed/11163209" }, { "database": "PubMed", "id": "27380894", "url": "https://glygen.org/publication/PubMed/27380894" }, { "database": "PubMed", "id": "9659902", "url": "https://glygen.org/publication/PubMed/9659902" }, { "database": "PubMed", "id": "16417584", "url": "https://glygen.org/publication/PubMed/16417584" } ] } ], "disease": [ { "disease_id": "DOID:0080754", "recommended_name": { "id": "DOID:0080754", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080754", "name": "X-linked keratosis follicularis spinulosa decalvans", "description": "A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene." }, "synonyms": [ { "id": "MONDO:0010637", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010637", "name": "keratosis follicularis spinulosa decalvans, X-linked", "description": "" }, { "id": "MONDO:0010637", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010637", "name": "keratosis follicularis spinulosa decalvans, X-linked", "description": "" }, { "id": "MONDO:0010637", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010637", "name": "keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010637", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010637", "name": "KFSDX", "description": "" }, { "id": "MONDO:0010637", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010637", "name": "Kfsdx", "description": "" }, { "id": "MONDO:0010637", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010637", "name": "keratosis follicularis SPINULOSA decalvans, X-linked", "description": "" }, { "id": "MONDO:0010637", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010637", "name": "keratosis follicularis Spinulosa decalvans cum Ophiasi", "description": "" }, { "id": "MONDO:0010637", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010637", "name": "keratosis follicularis spinulosa decalvans", "description": "" }, { "id": "MONDO:0010637", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010637", "name": "keratosis follicularis spinulosa decalvans cum ophiasi", "description": "" }, { "id": "MIM:308800", "resource": "MIM", "url": "https://www.omim.org/entry/308800", "name": "Keratosis follicularis spinulosa decalvans X-linked", "description": "Keratosis follicularis spinulosa decalvans X-linked" } ], "evidence": [ { "id": "308800", "database": "MIM", "url": "https://www.omim.org/entry/308800" } ] }, { "disease_id": "DOID:0111821", "recommended_name": { "id": "DOID:0111821", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111821", "name": "ichthyosis follicularis-alopecia-photophobia syndrome 1", "description": "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12." }, "synonyms": [ { "id": "DOID:0111821", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111821", "name": "IFAP syndrome 1", "description": "" }, { "id": "DOID:0111821", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111821", "name": "IFAP syndrome 1 with or without BRESHECK syndrome", "description": "" }, { "id": "DOID:0111821", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111821", "name": "ichthyosis follicularis-atrichia-photophobia syndrome 1", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "IFAP syndrome with or without BRESHECK syndrome", "description": "An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome." }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "IFAP syndrome", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "IFAP syndrome with or without BRESHECK syndrome", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "IFAP syndrome with or without BRESHECK syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "IFAP/BRESHECK syndrome", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "ichthyosis follicularis-alopecia-photophobia syndrome", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "ichthyosis follicularis-atrichia-photophobia syndrome", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "ichthyosis follicularis atrichia photophobia syndrome", "description": "" }, { "id": "MIM:308205", "resource": "MIM", "url": "https://www.omim.org/entry/308205", "name": "IFAP syndrome 1, with or without Bresheck syndrome", "description": "IFAP syndrome 1, with or without Bresheck syndrome" } ], "evidence": [ { "id": "308205", "database": "MIM", "url": "https://www.omim.org/entry/308205" } ] }, { "disease_id": "DOID:0111847", "recommended_name": { "id": "DOID:0111847", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111847", "name": "osteogenesis imperfecta type 19", "description": "An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12." }, "synonyms": [ { "id": "DOID:0111847", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111847", "name": "OI19", "description": "" }, { "id": "DOID:0111847", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111847", "name": "osteogenesis imperfecta type XIX", "description": "" }, { "id": "MONDO:0049223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0049223", "name": "osteogenesis imperfecta, type 19", "description": "" }, { "id": "MONDO:0049223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0049223", "name": "osteogenesis imperfecta, type XIX, X-linked recessive", "description": "" }, { "id": "MONDO:0049223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0049223", "name": "OI19", "description": "" }, { "id": "MONDO:0049223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0049223", "name": "osteogenesis imperfecta, type XIX", "description": "" }, { "id": "MIM:301014", "resource": "MIM", "url": "https://www.omim.org/entry/301014", "name": "Osteogenesis imperfecta 19", "description": "Osteogenesis imperfecta 19" } ], "evidence": [ { "id": "301014", "database": "MIM", "url": "https://www.omim.org/entry/301014" } ] }, { "disease_id": "DOID:0112012", "recommended_name": { "id": "DOID:0112012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112012", "name": "X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques", "description": "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12." }, "synonyms": [ { "id": "DOID:0112012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112012", "name": "OLMSX", "description": "" }, { "id": "DOID:0112012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112012", "name": "X-linked Olmsted syndrome", "description": "" }, { "id": "MONDO:0010486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010486", "name": "Olmsted syndrome, X-linked", "description": "" }, { "id": "MONDO:0010486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010486", "name": "Olmsted syndrome, X-linked", "description": "" }, { "id": "MONDO:0010486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010486", "name": "Olmsted syndrome, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010486", "name": "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked", "description": "" }, { "id": "MIM:300918", "resource": "MIM", "url": "https://www.omim.org/entry/300918", "name": "Olmsted syndrome, X-linked", "description": "Olmsted syndrome, X-linked" } ], "evidence": [ { "id": "300918", "database": "MIM", "url": "https://www.omim.org/entry/300918" } ] } ], "snv": [ { "evidence": [ { "id": "rs746297311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746297311" }, { "id": "rs746297311", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746297311" }, { "id": "rs746297311", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746297311" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 311, "end_pos": 311, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "X", "chr_pos": "21869640", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S311", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777215127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777215127" }, { "id": "rs777215127", "database": "ExAC", "url": 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"o-glyco-site-loss" ], "start_pos": 382, "end_pos": 382, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "X", "chr_pos": "21878576", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S382", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs122468179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs122468179" }, { "id": "rs122468179", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs122468179" }, { "id": "10694306", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10694306" }, { "id": "19361614", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19361614" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 475, "end_pos": 475, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSF->NSS).", "chr_id": "X", "chr_pos": "21882519", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F475", "disease": [ { "disease_id": "DOID:0111821", "recommended_name": { "id": "DOID:0111821", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111821", "name": "ichthyosis follicularis-alopecia-photophobia syndrome 1", "description": "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12." }, "synonyms": [ { "id": "DOID:0111821", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111821", "name": "IFAP syndrome 1", "description": "" }, { "id": "DOID:0111821", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111821", "name": "IFAP syndrome 1 with or without BRESHECK syndrome", "description": "" }, { "id": "DOID:0111821", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111821", "name": "ichthyosis follicularis-atrichia-photophobia syndrome 1", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "IFAP syndrome with or without BRESHECK syndrome", "description": "An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome." }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "IFAP syndrome", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "IFAP syndrome with or without BRESHECK syndrome", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "IFAP syndrome with or without BRESHECK syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "IFAP/BRESHECK syndrome", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "ichthyosis follicularis-alopecia-photophobia syndrome", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "ichthyosis follicularis-atrichia-photophobia syndrome", "description": "" }, { "id": "MONDO:0100213", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100213", "name": "ichthyosis follicularis atrichia photophobia syndrome", "description": "" }, { "id": "MIM:308205", "resource": "MIM", "url": "https://www.omim.org/entry/308205", "name": "IFAP syndrome 1, with or without Bresheck syndrome", "description": "IFAP syndrome 1, with or without Bresheck syndrome" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "mutagenesis": [ { "start_pos": 171, "end_pos": 171, "sequence_org": "H", "sequence_mut": "F", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" }, { "database": "PubMed", "id": "9659902", "url": "https://glygen.org/publication/PubMed/9659902" } ] }, { "start_pos": 172, "end_pos": 172, "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" }, { "database": "PubMed", "id": "9659902", "url": "https://glygen.org/publication/PubMed/9659902" } ] }, { "start_pos": 172, "end_pos": 172, "sequence_org": "E", "sequence_mut": "D", "comment": "Partial 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"database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" }, { "database": "PubMed", "id": "9659902", "url": "https://glygen.org/publication/PubMed/9659902" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "70.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012174", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012174" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "77.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012174", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012174" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "72.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012174", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012174" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "60.78", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000012174", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012174" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012174", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012174" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "80.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012174", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012174" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "60.64", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000012174", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012174" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012174", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012174" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012174", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012174" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "60.95", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000012174", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012174" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012174", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012174" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "74.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012174", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012174" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": 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"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", 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"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", 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"sp|O43462-1|MBTP2_HUMAN Isoform 1 of Membrane-bound transcription factor site-2 protease OS=Homo sapiens OX=9606 GN=MBTPS2 PE=1 SV=1 CANONICAL=O43462-1" }, "isoforms": [ { "isoform_ac": "B9ZVQ3-1", "url": "", "sequence": { "sequence": "MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRAFYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYFFTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALVLLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTIAYEPQIGYCISASTLQQLSFPVRGVYISSI", "length": 330, "header": "tr|B9ZVQ3-1|B9ZVQ3_HUMAN Computationally mapped isoform of Membrane-bound transcription factor site-2 protease OS=Homo sapiens OX=9606 GN=MBTPS2 PE=1 SV=1 CANONICAL=O43462-1" }, "locus": { "chromosome": "X", "start_pos": 21869698, "end_pos": 21839735, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000365779.2", "url": "https://www.ensembl.org/id/ENST00000365779.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000368796.1", "url": "https://www.ensembl.org/id/ENSP00000368796.1" } ] } }, { "isoform_ac": "O43462-1", "url": "", "sequence": { "sequence": "MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRAFYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYFFTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALVLLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTIAYEPQIGYCISASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNNFNKRLHTCLPARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKVKHPPQIDMLYVGHPLHLHYTVSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATLTSVIGDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR", "length": 519, "header": "sp|O43462-1|MBTP2_HUMAN Isoform 1 of Membrane-bound transcription factor site-2 protease OS=Homo sapiens OX=9606 GN=MBTPS2 PE=1 SV=1 CANONICAL=O43462-1" }, "locus": { "chromosome": "X", "start_pos": 21882652, "end_pos": 21839735, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000379484.10", "url": "https://www.ensembl.org/id/ENST00000379484.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000368798.5", "url": "https://www.ensembl.org/id/ENSP00000368798.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 336, "start_aa": "Asn", "end_pos": 336, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn336", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 337, "start_aa": "Asn", "end_pos": 337, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn337", "evidence": [ { "id": "O43462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43462#ptm_processing" }, { "id": "10419520", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10419520" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Nuclear import of sterol regulatory element-binding protein-2, a basic helix-loop-helix-leucine zipper (bHLH-Zip)-containing transcription factor, occurs through the direct interaction of importin beta with HLH-Zip.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Nagoshi E, Imamoto N, Sato R, Yoneda Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "10397761", "url": "https://glygen.org/publication/PubMed/10397761" } ] }, { "title": "Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Zelenski NG, Rawson RB, Brown MS, Goldstein JL", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462#ptm_processing" }, { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" } ], "reference": [ { "type": "PubMed", "id": "10419520", "url": "https://glygen.org/publication/PubMed/10419520" } ] }, { "title": "Autocatalytic processing of site-1 protease removes propeptide and permits cleavage of sterol regulatory element-binding proteins.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Espenshade PJ, Cheng D, Goldstein JL, Brown MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "10428864", "url": "https://glygen.org/publication/PubMed/10428864" } ] }, { "title": "Mammalian transcription factor ATF6 is synthesized as a transmembrane protein and activated by proteolysis in response to endoplasmic reticulum stress.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Haze K, Yoshida H, Yanagi H, Yura T, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381033", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381033" } ], "reference": [ { "type": "PubMed", "id": "10564271", "url": "https://glygen.org/publication/PubMed/10564271" } ] }, { "title": "Biosynthesis and enzymatic characterization of human SKI-1/S1P and the processing of its inhibitory prosegment.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Toure BB, Munzer JS, Basak A, Benjannet S, Rochemont J, Lazure C, Chretien M, Seidah NG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "10644685", "url": "https://glygen.org/publication/PubMed/10644685" } ] }, { "title": "Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?", "journal": "European journal of dermatology : EJD", "date": "2000-03", "authors": "Boente M C, Bibas-Bonet H, Coronel A M, Asial R A", "evidence": [ { "database": "dbSNP", "id": "rs122468179", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs122468179" } ], "reference": [ { "type": "PubMed", "id": "10694306", "url": "https://glygen.org/publication/PubMed/10694306" } ] }, { "title": "Asparagine-proline sequence within membrane-spanning segment of SREBP triggers intramembrane cleavage by site-2 protease.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Ye J, Dave UP, Grishin NV, Goldstein JL, Brown MS", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" }, { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "10805775", "url": "https://glygen.org/publication/PubMed/10805775" } ] }, { "title": "Activation of ATF6 and an ATF6 DNA binding site by the endoplasmic reticulum stress response.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Wang Y, Shen J, Arenzana N, Tirasophon W, Kaufman RJ, Prywes R", "evidence": [ { "database": "Reactome", "id": "R-HSA-381033", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381033" } ], "reference": [ { "type": "PubMed", "id": "10856300", "url": "https://glygen.org/publication/PubMed/10856300" } ] }, { "title": "The proprotein convertases furin and PACE4 play a significant role in tumor progression.", "journal": "Molecular carcinogenesis", "date": "2000", "authors": "Bassi DE, Mahloogi H, Klein-Szanto AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "10900462", "url": "https://glygen.org/publication/PubMed/10900462" } ] }, { "title": "Endoplasmic reticulum stress-induced formation of transcription factor complex ERSF including NF-Y (CBF) and activating transcription factors 6alpha and 6beta that activates the mammalian unfolded protein response.", "journal": "Molecular and cellular biology", "date": "2001-02", "authors": "Yoshida H, Okada T, Haze K, Yanagi H, Yura T, Negishi M, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874177", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874177" } ], "reference": [ { "type": "PubMed", "id": "11158310", "url": "https://glygen.org/publication/PubMed/11158310" } ] }, { "title": "ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs.", "journal": "Molecular cell", "date": "2000", "authors": "Ye J, Rawson RB, Komuro R, Chen X, Dave UP, Prywes R, Brown MS, Goldstein JL", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" }, { "database": "Reactome", "id": "R-HSA-381033", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381033" } ], "reference": [ { "type": "PubMed", "id": "11163209", "url": "https://glygen.org/publication/PubMed/11163209" } ] }, { "title": "Identification of the G13 (cAMP-response-element-binding protein-related protein) gene product related to activating transcription factor 6 as a transcriptional activator of the mammalian unfolded protein response.", "journal": "The Biochemical journal", "date": "2001", "authors": "Haze K, Okada T, Yoshida H, Yanagi H, Yura T, Negishi M, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874177", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874177" } ], "reference": [ { "type": "PubMed", "id": "11256944", "url": "https://glygen.org/publication/PubMed/11256944" } ] }, { "title": "Dimerization of sterol regulatory element-binding protein 2 via the helix-loop-helix-leucine zipper domain is a prerequisite for its nuclear localization mediated by importin beta.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Nagoshi E, Yoneda Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "11283257", "url": "https://glygen.org/publication/PubMed/11283257" } ] }, { "title": "CREB-H: a novel mammalian transcription factor belonging to the CREB/ATF family and functioning via the box-B element with a liver-specific expression.", "journal": "Nucleic acids research", "date": "2001", "authors": "Omori Y, Imai J, Watanabe M, Komatsu T, Suzuki Y, Kataoka K, Watanabe S, Tanigami A, Sugano S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874211", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874211" } ], "reference": [ { "type": "PubMed", "id": "11353085", "url": "https://glygen.org/publication/PubMed/11353085" } ] }, { "title": "The luminal domain of ATF6 senses endoplasmic reticulum (ER) stress and causes translocation of ATF6 from the ER to the Golgi.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Chen X, Shen J, Prywes R", "evidence": [ { "database": "Reactome", "id": "R-HSA-381033", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381033" } ], "reference": [ { "type": "PubMed", "id": "11821395", "url": "https://glygen.org/publication/PubMed/11821395" } ] }, { "title": "AIbZIP, a novel bZIP gene located on chromosome 1q21.3 that is highly expressed in prostate tumors and of which the expression is up-regulated by androgens in LNCaP human prostate cancer cells.", "journal": "Cancer research", "date": "2002", "authors": "Qi H, Fillion C, Labrie Y, Grenier J, Fournier A, Berger L, El-Alfy M, Labrie C", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874211", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874211" } ], "reference": [ { "type": "PubMed", "id": "11830526", "url": "https://glygen.org/publication/PubMed/11830526" } ] }, { "title": "ER stress regulation of ATF6 localization by dissociation of BiP/GRP78 binding and unmasking of Golgi localization signals.", "journal": "Developmental cell", "date": "2002", "authors": "Shen J, Chen X, Hendershot L, Prywes R", "evidence": [ { "database": "Reactome", "id": "R-HSA-381033", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381033" } ], "reference": [ { "type": "PubMed", "id": "12110171", "url": "https://glygen.org/publication/PubMed/12110171" } ] }, { "title": "Luman, the cellular counterpart of herpes simplex virus VP16, is processed by regulated intramembrane proteolysis.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Raggo C, Rapin N, Stirling J, Gobeil P, Smith-Windsor E, O'Hare P, Misra V", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874211", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874211" } ], "reference": [ { "type": "PubMed", "id": "12138176", "url": "https://glygen.org/publication/PubMed/12138176" } ] }, { "title": "Human hepatic lipase mutations and polymorphisms.", "journal": "Human mutation", "date": "1992", "authors": "Hegele RA, Tu L, Connelly PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "1301939", "url": "https://glygen.org/publication/PubMed/1301939" } ] }, { "title": "The structure of importin-beta bound to SREBP-2: nuclear import of a transcription factor.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "Lee SJ, Sekimoto T, Yamashita E, Nagoshi E, Nakagawa A, Imamoto N, Yoshimura M, Sakai H, Chong KT, Tsukihara T, Yoneda Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "14645851", "url": "https://glygen.org/publication/PubMed/14645851" } ] }, { "title": "Opposing roles for ATF6alpha and ATF6beta in endoplasmic reticulum stress response gene induction.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Thuerauf DJ, Morrison L, Glembotski CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874177", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874177" } ], "reference": [ { "type": "PubMed", "id": "14973138", "url": "https://glygen.org/publication/PubMed/14973138" } ] }, { "title": "Hepatic lipase, lipoprotein metabolism, and atherogenesis.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2004", "authors": "Santamarina-Fojo S, Gonzalez-Navarro H, Freeman L, Wagner E, Nong Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "15284087", "url": "https://glygen.org/publication/PubMed/15284087" } ] }, { "title": "Dependence of site-2 protease cleavage of ATF6 on prior site-1 protease digestion is determined by the size of the luminal domain of ATF6.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Shen J, Prywes R", "evidence": [ { "database": "Reactome", "id": "R-HSA-381033", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381033" } ], "reference": [ { "type": "PubMed", "id": "15299016", "url": "https://glygen.org/publication/PubMed/15299016" } ] }, { "title": "Activation domains from both monomers contribute to transcriptional stimulation by sterol regulatory element-binding protein dimers.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Datta S, Osborne TF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "15550381", "url": "https://glygen.org/publication/PubMed/15550381" } ] }, { "title": "Stable binding of ATF6 to BiP in the endoplasmic reticulum stress response.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Shen J, Snapp EL, Lippincott-Schwartz J, Prywes R", "evidence": [ { "database": "Reactome", "id": "R-HSA-381033", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381033" } ], "reference": [ { "type": "PubMed", "id": "15657421", "url": "https://glygen.org/publication/PubMed/15657421" } ] }, { "title": "The liver-enriched transcription factor CREB-H is a growth suppressor protein underexpressed in hepatocellular carcinoma.", "journal": "Nucleic acids research", "date": "2005", "authors": "Chin KT, Zhou HJ, Wong CM, Lee JM, Chan CP, Qiang BQ, Yuan JG, Ng IO, Jin DY", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "15800215", "url": "https://glygen.org/publication/PubMed/15800215" } ] }, { "title": "Proprotein convertases [corrected] are responsible for proteolysis and inactivation of endothelial lipase.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Jin W, Fuki IV, Seidah NG, Benjannet S, Glick JM, Rader DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "16109723", "url": "https://glygen.org/publication/PubMed/16109723" } ] }, { "title": "CREB4, a transmembrane bZip transcription factor and potential new substrate for regulation and cleavage by S1P.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Stirling J, O'hare P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874211", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874211" } ], "reference": [ { "type": "PubMed", "id": "16236796", "url": "https://glygen.org/publication/PubMed/16236796" } ] }, { "title": "Cleavage of the membrane-bound transcription factor OASIS in response to endoplasmic reticulum stress.", "journal": "Journal of neurochemistry", "date": "2006", "authors": "Murakami T, Kondo S, Ogata M, Kanemoto S, Saito A, Wanaka A, Imaizumi K", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" } ], "reference": [ { "type": "PubMed", "id": "16417584", "url": "https://glygen.org/publication/PubMed/16417584" } ] }, { "title": "Endoplasmic reticulum stress activates cleavage of CREBH to induce a systemic inflammatory response.", "journal": "Cell", "date": "2006", "authors": "Zhang K, Shen X, Wu J, Sakaki K, Saunders T, Rutkowski DT, Back SH, Kaufman RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874211", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874211" } ], "reference": [ { "type": "PubMed", "id": "16469704", "url": "https://glygen.org/publication/PubMed/16469704" } ] }, { "title": "Luman/CREB3 induces transcription of the endoplasmic reticulum (ER) stress response protein Herp through an ER stress response element.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Liang G, Audas TE, Li Y, Cockram GP, Dean JD, Martyn AC, Kokame K, Lu R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874211", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874211" } ], "reference": [ { "type": "PubMed", "id": "16940180", "url": "https://glygen.org/publication/PubMed/16940180" } ] }, { "title": "Angiopoietin-like protein 4 converts lipoprotein lipase to inactive monomers and modulates lipase activity in adipose tissue.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Sukonina V, Lookene A, Olivecrona T, Olivecrona G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "17088546", "url": "https://glygen.org/publication/PubMed/17088546" } ] }, { "title": "Characterization of the native CREB3L2 transcription factor and the FUS/CREB3L2 chimera.", "journal": "Genes, chromosomes & cancer", "date": "2007", "authors": "Panagopoulos I, Moller E, Dahlen A, Isaksson M, Mandahl N, Vlamis-Gardikas A, Mertens F", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874211", "url": 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Ehret GB, Newton-Cheh C, Chasman DI, Chowdhury R, Ferrario M, Ford I, Jukema JW, Kee F, Kuulasmaa K, Nordestgaard BG, Perola M, Saleheen D, Sattar N, Surendran P, Tregouet D, Young R, Howson JM, Butterworth AS, Danesh J, Ardissino D, Bottinger EP, Erbel R, Franks PW, Girelli D, Hall AS, Hovingh GK, Kastrati A, Lieb W, Meitinger T, Kraus WE, Shah SH, McPherson R, Orho-Melander M, Melander O, Metspalu A, Palmer CN, Peters A, Rader D, Reilly MP, Loos RJ, Reiner AP, Roden DM, Tardif JC, Thompson JR, Wareham NJ, Watkins H, Willer CJ, Kathiresan S, Deloukas P, Samani NJ, Schunkert H", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "26934567", "url": "https://glygen.org/publication/PubMed/26934567" } ] }, { "title": "The Genetics of Dyslipidemia--When Less Is More.", "journal": "The New England journal of medicine", "date": "2016", "authors": "Kersten S", "evidence": [ 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from a molecular perspective: the interaction of MBTPS2 and TRPV3.", "journal": "Archives of dermatological research", "date": "2017", "authors": "Nemer G, Safi R, Kreidieh F, Usta J, Bergqvist C, Ballout F, Btadini W, Hamzeh N, Abbas O, Kibbi AG, Shimomura Y, Kurban M", "evidence": [ { "database": "RefSeq", "id": "NP_056968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968" } ], "reference": [ { "type": "PubMed", "id": "28717930", "url": "https://glygen.org/publication/PubMed/28717930" } ] }, { "title": "Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family.", "journal": "International journal of dermatology", "date": "2019", "authors": "Chen C, Xu C, Li H, Jia M, Tang S", "evidence": [ { "database": "RefSeq", "id": "NP_056968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968" } ], "reference": [ { "type": "PubMed", "id": "29951998", "url": "https://glygen.org/publication/PubMed/29951998" } ] }, { "title": "Novel MBTPS2 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"https://www.uniprot.org/uniprot/O43462" } ], "pmid": "" }, { "name": "mitotic G2 DNA damage checkpoint signaling", "id": "GO:0007095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007095", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" } ], "pmid": "" }, { "name": "bone maturation", "id": "GO:0070977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070977", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" } ], "pmid": "" }, { "name": "regulation of response to endoplasmic reticulum stress", "id": "GO:1905897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905897", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43462", "url": "https://www.uniprot.org/uniprot/O43462" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 337, "end_pos": 339, "annotation": "n_glycosylation_sequon" }, { "start_pos": 508, "end_pos": 510, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-1655851", "name": "S2P hydrolyzes SREBP1A,1C,2", "equation": "", "summary": "S2P(MBTPS2), a membrane-bound protease in the Golgi, cleaves within the transmembrane region of SREBP1A/1C/2 (SREBF1A/1C/2), releasing the N-terminal domain of SREBP1A/1C/2 into the cytosol.", "cellular_location": "Golgi membrane, cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43462-1" ], "evidence": [ { "id": "R-HSA-1655851", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655851" } ] }, { "id": "R-HSA-420818", "name": "MBTPS2 (S2P) cleaves ATF6 (ATF6-alpha)", "equation": "", "summary": "Once in the Golgi, ATF6-alpha undergoes two sequential proteolytic cleavages. S2P catalyzes the second of these, cleaving the ATF6-alpha S1P cleavage product within its transmembrane domain. This cleavage liberates a 50 kD N-terminal fragment with bZIP transcription factor activity into the cytosol.", "cellular_location": "Golgi membrane, cytosol", "input_participant_list": [ "R-HSA-420815" ], "output_participant_list": [ "R-HSA-420817" ], "enzyme_list": [ "O43462-1" ], "evidence": [ { "id": "R-HSA-420818", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420818" } ] }, { "id": "R-HSA-6784620", "name": "MBTPS1,2 cleaves CREB3L3 to CREB3L3(1-?) and CREB3L3(?-461)", "equation": "", "summary": "Cyclic AMP-responsive element-binding protein 3-like protein 3 (CREB3L3) is a transcription factor that is highly and selectively expressed in liver and small intestine. This protein is produced as an ER-localized type II transmembrane glycoprotein that is converted into the mature nuclear form (the N-terminal portion) by sequence specific proteases, membrane-bound transcription factor site-1 proteases 1 and 2 (MBTPS1 and 2) (Marschner et al. 2011, Oeffner et al. 2009). CREB3L3 is a downstream target gene of hepatocyte nuclear factor 4a (HNF-4a), which plays a critical role in hepatocyte differentiation and liver function. Ablation of HNF-4a abolished CREB-H mRNA expression in the liver, but not in the small intestine, suggesting an essential role of HNF-4a in hepatic CREB-H expression.", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [ "R-HSA-6784669" ], "output_participant_list": [ "R-HSA-6784654", "R-HSA-6784710" ], "enzyme_list": [ "O43462-1", "Q14703-1" ], "evidence": [ { "id": "R-HSA-6784620", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784620" } ] }, { "id": "R-HSA-8874122", "name": "MBTPS2 (S2P) cleaves ATF6B (ATF6-beta)", "equation": "", "summary": "MBTPS2 (S2P) cleaves the transmembrane domain of ATF6B near the cytoplasmic face, releasing the N-terminal cytoplasmic domain into the cytosol (Haze et al. 2001, Guan et al. 2009, Odisho et al. 2015). By inference from SREBFs (SREBPs) and ATF6, the cleavage is believed to occur around amino acid residue 399. Glycosylation of 5 sites in the lumenal domain of ATF6B is required for cleavage (Guan et al. 2009).", "cellular_location": "Golgi membrane, cytosol", "input_participant_list": [], "output_participant_list": [ "R-HSA-8874171" ], "enzyme_list": [ "O43462-1" ], "evidence": [ { "id": "R-HSA-8874122", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874122" } ] }, { "id": "R-HSA-8874187", "name": "MBTPS2 (S2P) cleaves CREB3L2", "equation": "", "summary": "MBTPS2 (S2P) cleaves CREB3L2 near the cytoplasmic face of the transmembrane domain, releasing the cytoplasmic N-terminal domain into the cytosol (inferred from human ATF6-alpha and mouse homologs).", "cellular_location": "Golgi membrane, cytosol", "input_participant_list": [ "R-HSA-8874210" ], "output_participant_list": [ "R-HSA-8874185", "R-HSA-8874216" ], "enzyme_list": [ "O43462-1" ], "evidence": [ { "id": "R-HSA-8874187", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874187" } ] }, { "id": "R-HSA-8874192", "name": "MBTPS2 (S2P) cleaves CREB3", "equation": "", "summary": "CREB3 is cleaved by regulated intramembrane proteolysis (RIP) (Raggo et al. 2002, Liang et al. 2006, Eleveld-Trancikova et al. 2010). As inferred from other RIP susbsrates, MBTPS2 (S2P) is believed to cleave CREB3 after MBTPS1 (S1P) cleaves (Raggo et al. 2002). Based on homology with cleavage sites in SREBP (SREBF) homologues, the cleavage site in CREB3 is estimated to be at about amino acid 254 at the cytoplasmic face of the transmembrane domain (Raggo et al. 2002).", "cellular_location": "Golgi membrane, cytosol", "input_participant_list": [], "output_participant_list": [ "R-HSA-8874207" ], "enzyme_list": [ "O43462-1" ], "evidence": [ { "id": "R-HSA-8874192", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874192" } ] }, { "id": "R-HSA-8874194", "name": "MBTPS2 (S2P) cleaves CREB3L1", "equation": "", "summary": "After cleavage by MBTPS1 (S1P), CREB3L1 (OASIS) is cleaved by MBTPS2, yielding a 60 kDal cytosolic product (S2P) (Denard et al. 2011, Denard et al. 2012, Mellor et al. 2013, Rose et al. 2014, Ward et al. 2016, inferred from mouse homologs). By inference from SREBFs (SREBPs) the cleavage is believed to occur near the cytoplasmic face of the transmembrane domain about amino acid residue 375. The cleavage releases the N-terminal cytoplasmic domain into the cytosol.", "cellular_location": "Golgi membrane, cytosol", "input_participant_list": [ "R-HSA-8874153" ], "output_participant_list": [ "R-HSA-8874213", "R-HSA-8874215" ], "enzyme_list": [ "O43462-1" ], "evidence": [ { "id": "R-HSA-8874194", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874194" } ] }, { "id": "R-HSA-8874195", "name": "MBTPS2 (S2P) cleaves CREB3L4", "equation": "", "summary": "CREB3L4 (CREB4) is cleaved near the cytoplasmic face of the transmembrane domain (Stirling and O'Hare 2006, Ben-Aicha et al. 2007). Based on homology with the mouse homolog and other CREB3 proteins, MBTPS2 (S2P) cleaves CREB3L4 and the cleavage is inferred to occur at approximately amino acid 297. The cleavage releases the N-terminal domain to the cytosol.", "cellular_location": "Golgi membrane, cytosol", "input_participant_list": [], "output_participant_list": [ "R-HSA-8874188", "R-HSA-8874221" ], "enzyme_list": [ "O43462-1" ], "evidence": [ { "id": "R-HSA-8874195", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874195" } ] }, { "id": "R-HSA-8874201", "name": "MBTPS2 (S2P) cleaves CREB3L3", "equation": "", "summary": "After cleavage by MBTPS1, CREB3L3 in the Golgi membrane is cleaved by MBTPS2 (S2P) near the cytoplasmic face of the transmembrane domain (Bailey et al. 2007, inferred from mouse homologs in Zhang et al. 2006). By inference from cleavage of SREBFs (SREBPs), CREB3L3 is believed to be cleaved at approximately amino acid residue 323. The cleavage releases the N-terminal cytoplasmic domain into the cytosol.", "cellular_location": "Golgi membrane, cytosol", "input_participant_list": [], "output_participant_list": [ "R-HSA-8874183", "R-HSA-8874214" ], "enzyme_list": [ "O43462-1" ], "evidence": [ { "id": "R-HSA-8874201", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874201" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-420815", "participant_name": "ATF6(1-419) [Golgi membrane]", "crossref": [ { "id": "P18850", "database": "UniProt", "url": "" }, { "id": "NP_031374.2", "database": "RefSeq", "url": "" }, { "id": "ENST00000681738", "database": "Ensembl", "url": "" }, { "id": "ENST00000681801", "database": "Ensembl", "url": "" }, { "id": "ENSG00000118217", "database": "OpenTargets", "url": "" }, { "id": "23342", "database": "Orphanet", "url": "" }, { "id": "ENSG00000118217-ATF6", "database": "HPA", "url": "" }, { "id": "P18850", "database": "GeneCards", "url": "" }, { "id": "P18850", "database": "PRO", "url": "" }, { "id": "ENST00000367942", "database": "Ensembl", "url": "" }, { "id": "ENSP00000505998", "database": "Ensembl", "url": "" }, { "id": "ENSP00000356919", "database": "Ensembl", "url": "" }, { "id": "ENSG00000118217", "database": "Ensembl", "url": "" }, { "id": "ENSP00000505025", "database": "Ensembl", "url": "" }, { "id": "P18850", "database": "Pharos - Targets", "url": "" } ] }, { "participant_id": "R-HSA-420817", "participant_name": "ATF6(380-419) [Golgi membrane]", "crossref": [ { "id": "P18850", "database": "Pharos - Targets", "url": "" }, { "id": "ENSG00000118217-ATF6", "database": "HPA", "url": "" }, { "id": "ENSP00000505998", "database": "Ensembl", "url": "" }, { "id": "ENST00000681738", "database": "Ensembl", "url": "" }, { "id": "P18850", "database": "PRO", "url": "" }, { "id": "ENSG00000118217", "database": "Ensembl", "url": "" }, { "id": "ENSG00000118217", "database": "OpenTargets", "url": "" }, { "id": "P18850", "database": "UniProt", "url": "" }, { "id": "P18850", "database": "GeneCards", "url": "" }, { "id": "ENSP00000356919", "database": "Ensembl", "url": "" }, { "id": "ENST00000681801", "database": "Ensembl", "url": "" }, { "id": "ENSP00000505025", "database": "Ensembl", "url": "" }, { "id": "23342", "database": "Orphanet", "url": "" }, { "id": "NP_031374.2", "database": "RefSeq", "url": "" }, { "id": "ENST00000367942", "database": "Ensembl", "url": "" } ] }, { "participant_id": "R-HSA-6784654", "participant_name": "CREB3L3(1-?) 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