{ "uniprot_canonical_ac": "A0JN29-1", "sequence": { "header": "tr|A0JN29-1|A0JN29_RAT Isoform 1 of Limb and neural patterns (Predicted), isoform CRA_a OS=Rattus norvegicus OX=10116 GN=Lnpk PE=1 SV=1 CANONICAL=A0JN29-1", "length": 376, "sequence": "MGGLFSRWRAKPSTVEVLENIDKEIQALEEFREKNQRLQKLWVGRLIIYSSILYLFTCLIVYLWYLPDEFIARLVMTLPFFAFPLIIWTLRTVLIFFFSKRTERNNEALDDLKSQKKKILEEVMEKETYKTAKLILERFDPDSKKAKEFEPPSAGAAATAKPGQEIRQRTAAQRNLSPAPANSNQGPPPQVPVSPGPSKDASAPGGPPERTVAPALPRRLGSPATSVPGMGLHPPGPPLARPVLPRERGALDRIVEYLVGDGPQNRYALICQQCFSHNGMALKEEFEYIAFRCAYCFFLNPARKTRPQAPRLPEFSFEKRQAVEGSSSTGPMLLESVPSPENQLTEGGTIPQMSHFLSEISGMKSNWLKVNPSKTL" }, "uniprot_id": "A0JN29_RAT", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "protein lunapark", "limb and neural patterns" ], "uniprotkb": [ "Limb and neural patterns (Predicted), isoform CRA_a", "Limb and neural patterns", "Lunapark, ER junction formation factor" ] }, "gene": { "refseq": [ "Lnpk", "Lnp" ], "uniprotkb": [ "Lnpk", "Lnp", "rCG_27205", "Lnp_predicted" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "recommendedname": { "full": "Limb and neural patterns (Predicted), isoform CRA_a; Limb and neural patterns; Lunapark, ER junction formation factor." }, "publication": [ { "title": "Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/30032983", "journal": "American journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070897.1", "id": "NP_001070897.1", "database": "RefSeq" } ], "authors": "Breuss MW, Nguyen A, Song Q, Nguyen T, Stanley V, James KN, Musaev D, Chai G, Wirth SA, Anzenberg P, George RD, Johansen A, Ali S, Zia-Ur-Rehman M, Sultan T, Zaki MS, Gleeson JG", "date": "2018", "pmid": "30032983" }, { "title": "Lunapark stabilizes nascent three-way junctions in the endoplasmic reticulum.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25548161", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070897.1", "id": "NP_001070897.1", "database": "RefSeq" } ], "authors": "Chen S, Desai T, McNew JA, Gerard P, Novick PJ, Ferro-Novick S", "date": "2015", "pmid": "25548161" }, { "title": "A model for the generation and interconversion of ER morphologies.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25404289", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070897.1", "id": "NP_001070897.1", "database": "RefSeq" } ], "authors": "Shemesh T, Klemm RW, Romano FB, Wang S, Vaughan J, Zhuang X, Tukachinsky H, Kozlov MM, Rapoport TA", "date": "2014", "pmid": "25404289" }, { "title": "Protein N-myristoylation plays a critical role in the endoplasmic reticulum morphological change induced by overexpression of protein Lunapark, an integral membrane protein of the endoplasmic reticulum.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24223779", "journal": "PloS one", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070897.1", "id": "NP_001070897.1", "database": "RefSeq" } ], "authors": "Moriya K, Nagatoshi K, Noriyasu Y, Okamura T, Takamitsu E, Suzuki T, Utsumi T", "date": "2013", "pmid": "24223779" }, { "title": "Hoxa11 and Hoxd11 regulate chondrocyte differentiation upstream of Runx2 and Shox2 in mice.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22916278", "journal": "PloS one", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070897.1", "id": "NP_001070897.1", "database": "RefSeq" } ], "authors": "Gross S, Krause Y, Wuelling M, Vortkamp A", "date": "2012", "pmid": "22916278" }, { "title": "Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain-of-function of posterior Hoxd genes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/9342042", "journal": "Development (Cambridge, England)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070897.1", "id": "NP_001070897.1", "database": "RefSeq" } ], "authors": "Herault Y, Fraudeau N, Zakany J, Duboule D", "date": "1997", "pmid": "9342042" } ], "glycosylation": [], "mutation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0JN29#A0JN29-1", "isoform_ac": "A0JN29-1", "locus": { "end_pos": 61439857, "start_pos": 61488696, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000083045", "id": "ENSRNOT00000083045", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000070893", "id": "ENSRNOP00000070893", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0JN29-1|A0JN29_RAT Isoform 1 of Limb and neural patterns (Predicted), isoform CRA_a OS=Rattus norvegicus OX=10116 GN=Lnpk PE=1 SV=1 CANONICAL=A0JN29-1", "length": 376, "sequence": "MGGLFSRWRAKPSTVEVLENIDKEIQALEEFREKNQRLQKLWVGRLIIYSSILYLFTCLIVYLWYLPDEFIARLVMTLPFFAFPLIIWTLRTVLIFFFSKRTERNNEALDDLKSQKKKILEEVMEKETYKTAKLILERFDPDSKKAKEFEPPSAGAAATAKPGQEIRQRTAAQRNLSPAPANSNQGPPPQVPVSPGPSKDASAPGGPPERTVAPALPRRLGSPATSVPGMGLHPPGPPLARPVLPRERGALDRIVEYLVGDGPQNRYALICQQCFSHNGMALKEEFEYIAFRCAYCFFLNPARKTRPQAPRLPEFSFEKRQAVEGSSSTGPMLLESVPSPENQLTEGGTIPQMSHFLSEISGMKSNWLKVNPSKTL" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?rno:362151", "resource": "KEGG Pathway", "id": "rno:362151", "name": "" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "Q7TQ95-1", "protein_name": "Endoplasmic reticulum junction formation protein lunapark; ER junction formation factor lunapark; Protein ulnaless.", "sequence": { "length": 425, "sequence": "MGGLFSRWRAKPSTVEVLENIDKEIQALEEFREKNQRLQKLWVGRLIIYSSILYLFTCLIVYLWYLPDEFTARLVMTLPFFAFPLIIWTLRTVLIFFFSKRTERNNEALDDLKSQKKKILEEVMEKETYKTAKLILERFDPDSKKAKEFEPPSAGAAVTAKPGQEIRQRTAAQRNLSPAPASSSQGPPPQGPVSPGPAKDASAPGGPPERTVAPALPRRLGSPATSVPGMGLHPPGPPLARPILPRERGALDRIVEYLVGDGPQNRYALICQQCFSHNGMALKEEFEYIAFRCAYCFFLNPARKTRPQAPRLPEFSFEKRQAVEGSSSTGPTLLESVPSAESQLIEDSLEEQDVLDNSTEQRDDKIPVTEQTSQVIEKTSGPEEPAENQEETENEETSTNEAKSPVLRADSVPNLEPSEESLVTK" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12319", "id": "12319", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q9C0E8-1", "protein_name": "Endoplasmic reticulum junction formation protein lunapark; ER junction formation factor lunapark.", "sequence": { "length": 428, "sequence": "MGGLFSRWRTKPSTVEVLESIDKEIQALEEFREKNQRLQKLWVGRLILYSSVLYLFTCLIVYLWYLPDEFTARLAMTLPFFAFPLIIWSIRTVIIFFFSKRTERNNEALDDLKSQRKKILEEVMEKETYKTAKLILERFDPDSKKAKECEPPSAGAAVTARPGQEIRQRTAAQRNLSPTPASPNQGPPPQVPVSPGPPKDSSAPGGPPERTVTPALSSNVLPRHLGSPATSVPGMGLHPPGPPLARPILPRERGALDRIVEYLVGDGPQNRYALICQQCFSHNGMALKEEFEYIAFRCAYCFFLNPARKTRPQAPRLPEFSFEKRQVVEGSSSVGPLPSGSVLSSDNQFNEESLEHDVLDDNTEQTDDKIPATEQTNQVIEKASDSEEPEEKQETENEEASVIETNSTVPGADSIPDPELSGESLTAE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12319", "id": "12319", "database": "MGI" } ], "organism": "Homo sapiens", "tax_id": 9606 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070897.1", "ac": "NP_001070897.1", "name": "protein lunapark; limb and neural patterns.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "identical protein binding", "id": "GO:0042802" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071782", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "endoplasmic reticulum tubular network", "id": "GO:0071782" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "nucleoplasm", "id": "GO:0005654" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030176", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "integral component of endoplasmic reticulum membrane", "id": "GO:0030176" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098826", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "endoplasmic reticulum tubular network membrane", "id": "GO:0098826" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071786", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "endoplasmic reticulum tubular network organization", "id": "GO:0071786" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "blood coagulation", "id": "GO:0007596" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "embryonic forelimb morphogenesis", "id": "GO:0035115" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "embryonic digit morphogenesis", "id": "GO:0042733" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032330", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "regulation of chondrocyte differentiation", "id": "GO:0032330" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903373", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "positive regulation of endoplasmic reticulum tubular network organization", "id": "GO:1903373" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071788", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "id": "A0JN29", "database": "UniProtKB" } ], "name": "endoplasmic reticulum tubular network maintenance", "id": "GO:0071788" } ], "total": 7, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 177, "annotation": "n_glycosylation_sequon", "start_pos": 175 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070897.1", "id": "NP_001070897.1", "database": "RefSeq" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?rno:362151", "id": "rno:362151", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000001593", "id": "ENSRNOG00000001593", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/TAPKNRI/", "id": "TAPKNRI", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019273", "id": "IPR019273", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR040115", "id": "IPR040115", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF10058", "id": "PF10058", "database": "Pfam" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22166", "id": "PTHR22166", "database": "PANTHER" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/362151", "id": "362151", "database": "GeneID" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1312042", "id": "1312042", "database": "RGD" } ], "expression_disease": [], "uniprot_ac": "A0JN29", "disease": [], "mass": { "monoisotopic_mass": 42170.0, "chemical_mass": 42170.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0JN29", "name": "Lnpk; Lnp; rCG_27205; Lnp_predicted.", "locus": { "end_pos": 61433863, "start_pos": 61494778, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000001593", "id": "ENSRNOG00000001593", "database": "Ensembl Gene" } ] } } ] }