{ "uniprot_canonical_ac": "O43865-1", "uniprot_ac": "O43865", "uniprot_id": "SAHH2_HUMAN", "mass": { "chemical_mass": 58951.0, "monoisotopic_mass": 58951.0 }, "refseq": { "ac": "NP_001229602", "name": "S-adenosylhomocysteine hydrolase-like protein 1 isoform b", "summary": "The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229602" }, "gene_names": [ { "name": "AHCYL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43865", "id": "O43865" }, { "name": "AHCYL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229602", "id": "NP_001229602" }, { "name": "DCAL; IRBIT; PPP1R78; PRO0233; XPVKONA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229602", "id": "NP_001229602" }, { "name": "DCAL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43865", "id": "O43865" }, { "name": "IRBIT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43865", "id": "O43865" }, { "name": "XPVKONA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43865", "id": "O43865" } ], "protein_names": [ { "name": "S-adenosylhomocysteine hydrolase-like protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43865" }, { "name": "AdoHcyase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43865" }, { "name": "DC-expressed AHCY-like molecule", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43865" }, { "name": "IP(3)Rs binding protein released with IP(3)", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43865" }, { "name": "IRBIT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43865" }, { "name": "Putative adenosylhomocysteinase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43865" }, { "name": "S-adenosyl homocysteine hydrolase homolog; epididymis secretory sperm binding protein; dendritic cell expressed AHCY-like protein; inositol 1,4,5-trisphosphate receptor-binding protein; putative adenosylhomocysteinase 2; adoHcyase 2; DC-expressed AHCY-like molecule; S-adenosyl-L-homocysteine hydrolase 2; S-adenosylhomocysteine hydrolase-like protein 1; protein phosphatase 1, regulatory subunit 78; IP(3)Rs binding protein released with IP(3)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229602", "id": "NP_001229602" }, { "name": "S-adenosyl-L-homocysteine hydrolase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43865" }, { "name": "S-adenosylhomocysteine hydrolase-like protein 1 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229602", "id": "NP_001229602" } ], "function": [ { "annotation": "Adenosylhomocysteinase like 1 interacts with nonstructural 5A and regulates hepatitis C virus propagation.", "evidence": [ { "database": "RefSeq", "id": "NP_001229602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229602" }, { "database": "PubMed", "id": "33355889", "url": "https://glygen.org/publication/PubMed/33355889" } ] }, { "annotation": "Both IRBIT and long-IRBIT bind to and coordinately regulate Cl(-)/HCO3(-) exchanger AE2 activity through modulating the lysosomal degradation of AE2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001229602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229602" }, { "database": "PubMed", "id": "33727633", "url": "https://glygen.org/publication/PubMed/33727633" } ] }, { "annotation": "Multifaceted cellular regulator which coordinates several essential cellular functions including regulation of epithelial HCO3(-) and fluid secretion, mRNA processing and DNA replication. Regulates ITPR1 sensitivity to inositol 1,4,5-trisphosphate, competing for the common binding site and acting as endogenous 'pseudoligand' whose inhibitory activity can be modulated by its phosphorylation status. Promotes the formation of contact points between the endoplasmic reticulum (ER) and mitochondria, facilitating transfer of Ca(2+) from the ER to mitochondria (PubMed:27995898). Under normal cellular conditions, functions cooperatively with BCL2L10 to limit ITPR1-mediated Ca(2+) release but, under apoptotic stress conditions, dephosphorylated which promotes dissociation of both AHCYL1 and BCL2L10 from mitochondria-associated endoplasmic reticulum membranes, inhibits BCL2L10 interaction with ITPR1 and leads to increased Ca(2+) transfer to mitochondria which promotes apoptosis (PubMed:27995898). In the pancreatic and salivary ducts, at resting state, attenuates inositol 1,4,5-trisphosphate-induced calcium release by interacting with ITPR1 (PubMed:16793548). When extracellular stimuli induce ITPR1 phosphorylation or inositol 1,4,5-trisphosphate production, dissociates from ITPR1 to interact with CFTR and SLC26A6, mediating their synergistic activation by calcium and cAMP that stimulates the epithelial secretion of electrolytes and fluid (By similarity). Also activates basolateral SLC4A4 isoform 1 to coordinate fluid and HCO3(-) secretion (PubMed:16769890). Inhibits the effect of STK39 on SLC4A4 and CFTR by recruiting PP1 phosphatase which activates SLC4A4, SLC26A6 and CFTR through dephosphorylation (By similarity). Mediates the induction of SLC9A3 surface expression produced by Angiotensin-2 (PubMed:20584908). Depending on the cell type, activates SLC9A3 in response to calcium or reverses SLC9A3R2-dependent calcium inhibition (PubMed:18829453). May modulate the polyadenylation state of specific mRNAs, both by controlling the subcellular location of FIP1L1 and by inhibiting PAPOLA activity, in response to a stimulus that alters its phosphorylation state (PubMed:19224921). Acts as a (dATP)-dependent inhibitor of ribonucleotide reductase large subunit RRM1, controlling the endogenous dNTP pool and ensuring normal cell cycle progression (PubMed:25237103). In vitro does not exhibit any S-adenosyl-L-homocysteine hydrolase activity (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865#function" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "UniProtKB", "id": "B5DFN2", "url": "https://www.uniprot.org/uniprot/B5DFN2#function" }, { "database": "PubMed", "id": "25237103", "url": "https://glygen.org/publication/PubMed/25237103" }, { "database": "UniProtKB", "id": "Q80SW1", "url": "https://www.uniprot.org/uniprot/Q80SW1#function" }, { "database": "PubMed", "id": "20584908", "url": "https://glygen.org/publication/PubMed/20584908" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" }, { "database": "PubMed", "id": "27995898", "url": "https://glygen.org/publication/PubMed/27995898" }, { "database": "PubMed", "id": "18829453", "url": "https://glygen.org/publication/PubMed/18829453" } ] }, { "annotation": "The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001229602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229602" } ] }, { "annotation": "Unbiased proteomic profiling reveals the IP3R modulator AHCYL1/IRBIT as a novel interactor of microtubule-associated protein tau.", "evidence": [ { "database": "RefSeq", "id": "NP_001229602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229602" }, { "database": "PubMed", "id": "35218773", "url": "https://glygen.org/publication/PubMed/35218773" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 52, "end_pos": 52, "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on interaction with SLC4A4.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" } ] }, { "start_pos": 58, "end_pos": 58, "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on interaction with SLC4A4.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" } ] }, { "start_pos": 62, "end_pos": 62, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on interaction with SLC4A4. No effect on interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 64, "end_pos": 64, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on interaction with ITPR1. No effect on phosphorylation. No effect on interaction with SLC4A4. No effect on interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 66, "end_pos": 66, "sequence_org": "S", "sequence_mut": "A", "comment": "Slightly decreases interaction with ITPR1. Slightly decreases phosphorylation. No effect on interaction with SLC4A4. Abolishes interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 68, "end_pos": 68, "sequence_org": "S", "sequence_mut": "A", "comment": "Highly decreases phosphorylation. Abolishes interaction with ITPR1. No effect on interaction with BCL2L10. Marked decrease in interaction of BCL2L10 with ITPR1. Decreased ability of BCL2L10 to reduce ITPR1-mediated calcium release and to prevent apoptosis. No effect on formation of multimers. Abolishes interaction with SLC4A4. Abolishes interaction with FIP1L1. Highly decreases interaction with SLC9A3. Highly decreases interaction with SLC9A3; when associated with A-71 and A-74.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "20584908", "url": "https://glygen.org/publication/PubMed/20584908" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" }, { "database": "PubMed", "id": "27995898", "url": "https://glygen.org/publication/PubMed/27995898" } ] }, { "start_pos": 70, "end_pos": 70, "sequence_org": "S", "sequence_mut": "A", "comment": "Highly decreases interaction with ITPR1. No effect on phosphorylation. No effect on interaction with SLC4A4. Abolishes interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 71, "end_pos": 71, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes interaction with ITPR1. Highly decreases phosphorylation. Abolishes interaction with SLC4A4. Abolishes interaction with FIP1L1. Highly decreases interaction with SLC9A3; when associated with A-68 and A-74.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "20584908", "url": "https://glygen.org/publication/PubMed/20584908" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 72, "end_pos": 72, "sequence_org": "T", "sequence_mut": "A", "comment": "Highly decreases interaction with ITPR1. Slightly increases phosphorylation. No effect on interaction with SLC4A4. Highly decreases interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 74, "end_pos": 74, "sequence_org": "S", "sequence_mut": "G", "comment": "Abolishes interaction with ITPR1. Slightly decreases phosphorylation. Strongly decreases interaction with SLC4A4. Abolishes interaction with FIP1L1. Highly decreases interaction with SLC9A3; when associated with A-68 and A-71.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "20584908", "url": "https://glygen.org/publication/PubMed/20584908" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 76, "end_pos": 76, "sequence_org": "S", "sequence_mut": "G", "comment": "No effect on interaction with ITPR1. No effect on phosphorylation. No effect on interaction with SLC4A4. No effect on interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 77, "end_pos": 77, "sequence_org": "S", "sequence_mut": "A", "comment": "Highly decreases interaction with ITPR1. Slightly decreases phosphorylation. Strongly decreases interaction with SLC4A4. Abolishes interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 80, "end_pos": 80, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on interaction with SLC4A4. Highly decreases interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 82, "end_pos": 82, "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on interaction with ITPR1. No effect on phosphorylation. No effect on interaction with SLC4A4. Decreases interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 84, "end_pos": 84, "sequence_org": "S", "sequence_mut": "A", "comment": "Slightly decreases interaction with ITPR1. No effect on phosphorylation. No effect on interaction with SLC4A4. Decreases interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 85, "end_pos": 85, "sequence_org": "S", "sequence_mut": "A", "comment": "Slightly decreases interaction with ITPR1. No effect on phosphorylation. No effect on interaction with SLC4A4. Decreases interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 90, "end_pos": 90, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on interaction with ITPR1. No effect on phosphorylation. No effect on interaction with SLC4A4. No effect on interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] }, { "start_pos": 97, "end_pos": 97, "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on interaction with ITPR1. No effect on interaction with SLC4A4. No effect on interaction with FIP1L1.", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16769890", "url": "https://glygen.org/publication/PubMed/16769890" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "96.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "94.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "95.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168710" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43865", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43865" } ], "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 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"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", 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"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": 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"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": 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"https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43865", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43865" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43865" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"name": "regulation of monoatomic anion transport", "id": "GO:0044070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044070", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" }, { "name": "S-adenosylmethionine cycle", "id": "GO:0033353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033353", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" }, { "name": "regulation of mRNA 3'-end processing", "id": "GO:0031440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031440", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" }, { "name": "mitochondrion-endoplasmic reticulum membrane tethering", "id": "GO:1990456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990456", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" }, { "name": "enzyme regulator activity", "id": "GO:0030234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030234", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" }, { "name": "mitochondria-associated endoplasmic reticulum membrane", "id": "GO:0044233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044233", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 279, "end_pos": 281, "annotation": "n_glycosylation_sequon" }, { "start_pos": 444, "end_pos": 446, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated at Ser/Thr residues between Ser-68 and Thr-72 in the PEST region: required for interaction with dATP-bound RRM1 and ITPR1. Phosphorylation at Ser-68 by PRKD1 and CAMK4 is required for further phosphorylations by CSNK1A1 (PubMed:16793548). Phosphorylation is induced by oxidative stress (PubMed:19224921). Probably phosphorylated by CAMK2A; phosphorylation at Ser-68 may be required for interaction with SLC9A3 (PubMed:20584908). Dephosphorylated in response to apoptotic stress conditions which causes translocation of both AHCYL1 and BCL2L10 from mitochondria-associated endoplasmic reticulum membranes and promotes apoptosis (PubMed:27995898).", "evidence": [ { "database": "UniProtKB", "id": "O43865", "url": "https://www.uniprot.org/uniprot/O43865" }, { "database": "PubMed", "id": "16793548", "url": "https://glygen.org/publication/PubMed/16793548" }, { "database": "PubMed", "id": "25237103", "url": "https://glygen.org/publication/PubMed/25237103" }, { "database": "PubMed", "id": "20584908", "url": "https://glygen.org/publication/PubMed/20584908" }, { "database": "PubMed", "id": "19224921", "url": "https://glygen.org/publication/PubMed/19224921" }, { "database": "PubMed", "id": "27995898", "url": "https://glygen.org/publication/PubMed/27995898" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 2, 28, 68, 71, 74, 77, 84, 103, 391, 400, 402, 407 ], "sequon_annotation_sites": [ { "start_pos": 279, "end_pos": 281 }, { "start_pos": 444, "end_pos": 446 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 289 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }