{ "uniprot_canonical_ac": "Q4V9Z5-1", "uniprot_ac": "Q4V9Z5", "uniprot_id": "SE6L2_MOUSE", "mass": { "chemical_mass": 97504.0, "monoisotopic_mass": 97504.0 }, "refseq": { "ac": "NP_001239495", "name": "seizure 6-like protein 2 isoform 2 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239495" }, "gene_names": [ { "name": "Sez6l2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q4V9Z5", "id": "Q4V9Z5" }, { "name": "BSRP-A; Psk1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239495", "id": "NP_001239495" }, { "name": "Sez6l2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239495", "id": "NP_001239495" } ], "protein_names": [ { "name": "Seizure 6-like protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q4V9Z5" }, { "name": "BSRP-A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q4V9Z5" }, { "name": "Brain-specific receptor-like protein A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q4V9Z5" }, { "name": "seizure 6-like protein 2 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239495", "id": "NP_001239495" }, { "name": "type I transmembrane receptor (seizure-related protein); seizure 6-like protein 2; brain-specific receptor-like protein A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239495", "id": "NP_001239495" } ], "function": [ { "annotation": "May contribute to specialized endoplasmic reticulum functions in neurons.", "evidence": [ { "database": "UniProtKB", "id": "Q4V9Z5", "url": "https://www.uniprot.org/uniprot/Q4V9Z5#function" }, { "database": "PubMed", "id": "16814779", "url": "https://glygen.org/publication/PubMed/16814779" } ] }, { "annotation": "Results show that NPC1 loss-of-function in a mouse model of Niemann-Pick type C disease leads to enhanced cleavage of BACE1 substrates Sez6 and Sez6L, in addition to APP, and that this effect most likely involves altered trafficking of BACE1 and of its substrates within the endolysosomal system. Efficacy of Sez6 cleavage by BACE1 may be spatiotemporally differently regulated in contrast to the cleavage of Sez6L. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001239495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239495" }, { "database": "PubMed", "id": "29979789", "url": "https://glygen.org/publication/PubMed/29979789" } ] }, { "annotation": "Sez6l2 expression in mouse embryos was restricted to the spinal cord and brain", "evidence": [ { "database": "RefSeq", "id": "NP_001239495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239495" }, { "database": "PubMed", "id": "19242545", "url": "https://glygen.org/publication/PubMed/19242545" } ] }, { "annotation": "Sez6l2 is one of the auxiliary subunits of the AMPA receptor and acts as a scaffolding protein to link GluR1 to ADD. Furthermore, Sez6l2 overexpression upregulates ADD phosphorylation, whereas siRNA-mediated downregulation of Sez612 prevents ADD phosphorylation, suggesting that Sez6l2 modulates AMPA-ADD signal transduction.", "evidence": [ { "database": "RefSeq", "id": "NP_001239495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239495" }, { "database": "PubMed", "id": "29032200", "url": "https://glygen.org/publication/PubMed/29032200" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q4V9Z5", "url": "https://www.uniprot.org/uniprot/Q4V9Z5" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Sez6l2", "url": "https://www.uniprot.org/uniprot/Q4V9Z5", "locus": { "chromosome": "7", "start_pos": 126569778, "end_pos": 126549735, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000030683", "url": "https://www.ensembl.org/id/ENSMUSG00000030683" } ] } } ], "crossref": [ { "id": "ENSMUSG00000030683", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000030683", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00033", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00033", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00041", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00041", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "233878", "url": "https://www.ncbi.nlm.nih.gov/gene/233878", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "GPDB0001439", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0001439", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0002146", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0002146", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0005138", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0005138", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0005139", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0005139", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0005140", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0005140", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "Q4V9Z5", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q4V9Z5*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000436", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000436", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000859", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000859", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035914", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035914", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035976", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035976", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:233878", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:233878", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "2385295", "url": "http://www.informatics.jax.org/marker/MGI:2385295", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "Q4V9Z5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q4V9Z5", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "DPGFQIR", "url": "https://omabrowser.org/oma/group/DPGFQIR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5350762at2759", "url": "http://www.orthodb.org/?query=5350762at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45656", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45656", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45656:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45656:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00084", "url": "http://pfam.xfam.org/family/PF00084", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00431", "url": "http://pfam.xfam.org/family/PF00431", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q4V9Z5", "url": "http://purl.obolibrary.org/obo/PR_Q4V9Z5", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001239495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239495", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0U1RNQ8", "url": "https://www.uniprot.org/uniprot/A0A0U1RNQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RNQ8-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RNQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RPR3", "url": "https://www.uniprot.org/uniprot/A0A0U1RPR3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RPR3-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RPR3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3YY14", "url": "https://www.uniprot.org/uniprot/D3YY14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3YY14-1", "url": "https://www.uniprot.org/uniprot/D3YY14-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q4V9Z5", "url": "https://www.uniprot.org/uniprot/Q4V9Z5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q4V9Z5-1", "url": "https://www.uniprot.org/uniprot/Q4V9Z5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q4V9Z5-2", "url": "https://www.uniprot.org/uniprot/Q4V9Z5-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q4V9Z5-3", "url": "https://www.uniprot.org/uniprot/Q4V9Z5-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGTPKAQHPPPSQLLLLILLSCAWIEGLPLKEDEMMPEPGSETPTVASEDLAELLHGALLRKGPEIGFLPGSDPDPTLATPPAGQTLAAPSLPRATEPGTGPLTTAVTPKGVRGAGPTAPELLTPPPGTTAPPPPGPASPVPPLRPEGGEEETTTTIITTTTVTTTVTSPVLCNNNISEGEGFVESPDLGSTASRSVELLDCTYSIHVYPGYGIEIQVQTLNLSQEEELLVLAGGGSPGLAPRLLANSSMLGEGQVLRSPTNRLLLHFQSPRVPRGNGFRIHYQAYLLSCGFPPRPAHGDVSVTDLHPGGTATFHCDSGYQLQGEETLICLNGTRPAWTGEPPSCTASCGGTIHNATLGRIVSPEPGGAAGPNLTCRWVIEAAEGRRLHLHFERVSLDEDNDRLMVRSGGSPLSPVIYDSDMDDVPERGLISDAQSLYVELLSETPANPLLLSLRFEAFEEDRCFPPFLAHGNVTTTDPEFHPGALATFSCLPGYALEPPGPPNAIECVDPTEPHWNDTEPACKAMCGGELSEPAGVVLSPDWPQSYSPGQDCVWGLHVQEEKRILLQVEILNVREGDMLTLFDGDGPSARVLAQLRGPQPRRRLLSSGPDLTLQFQAPPGPPNPGLGQGFVLHFKEVPRNDTCPELPPPEWGWRTASHGDLIRGTVLTYQCEPGYELLGSDILTCQWDLSWSAAPPACQKIMTCADPGEITNGHRTASDAGFPVGSHVQYRCLPGYSLEGAAVLTCYSRDTGTPKWSDRVPKCALKYEPCLNPGVPENGYQTLYKHHYQAGESLRFFCYEGFELIGEVTITCVPGHPSQWTSQPPLCKVTQTTDPSRQLEGGNLALAILLPLGLVIVLGIGVYIYYTKLQGKSLFGFSGSHSYSPITVESDFSNPLYEAGDTREYEVSI", "length": 910, "header": "sp|Q4V9Z5-1|SE6L2_MOUSE Isoform 1 of Seizure 6-like protein 2 OS=Mus musculus OX=10090 GN=Sez6l2 PE=1 SV=1 CANONICAL=Q4V9Z5-1" }, "isoforms": [ { "isoform_ac": "A0A0U1RNQ8-1", "url": "", "sequence": { "sequence": "XQSPRVPRGNGFRIHYQAYLLSCGFPPRPAHGDVSVTDLHPGGTATFHCDSGYQLQGEETLICLNGTRPAWTGEPPSCTASCGGTIHNATLGRIVSPEPGGAAGPNLTCRWVIEAAEGRRLHLHFERVSLDEDNDR", "length": 136, "header": "tr|A0A0U1RNQ8-1|A0A0U1RNQ8_MOUSE Computationally mapped isoform of Seizure related 6 homolog like 2 OS=Mus musculus OX=10090 GN=Sez6l2 PE=1 SV=1 CANONICAL=Q4V9Z5-1" }, "locus": { "chromosome": "7", "start_pos": 126558390, "end_pos": 126553039, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000125669.3", "url": "https://www.ensembl.org/id/ENSMUST00000125669.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000145667.2", "url": "https://www.ensembl.org/id/ENSMUSP00000145667.2" } ] } }, { "isoform_ac": "A0A0U1RPR3-1", "url": "", "sequence": { "sequence": "XLALAILLPLGLVIVLGIGVYIYYTKLQGKSLFGFSGSHSYSPITVESDFSNPLYEAGDTREYEVSI", "length": 67, "header": "tr|A0A0U1RPR3-1|A0A0U1RPR3_MOUSE Computationally mapped isoform of Seizure related 6 homolog like 2 OS=Mus musculus OX=10090 GN=Sez6l2 PE=1 SV=1 CANONICAL=Q4V9Z5-1" }, "locus": { "chromosome": "7", "start_pos": 126569252, "end_pos": 126567141, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000155138.3", "url": "https://www.ensembl.org/id/ENSMUST00000155138.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000146086.2", "url": "https://www.ensembl.org/id/ENSMUSP00000146086.2" } ] } }, { "isoform_ac": "D3YY14-1", "url": "", "sequence": { "sequence": "MGTPKAQHPPPSQLLLLILLSCAWIEGSDPDPTLATPPAGQTLAAPSLPRATEPGTGPLTTAVTPKGVRGAGPTAPELLTPPPGTTAPPPPGPASPVPPLRPEGGEEETTTTIITTTTVTTTVTSPVLCNNNISEGEGFVESPDLGSTASRSVELLDCTYSIHVYPGYGIEIQVQTLNLSQEEELLVLAGGGSPGLAPRLLANSSMLGEGQVLRSPTNRLLLHFQSPRVPRGNGFRIHYQAYLLSC", "length": 246, "header": "tr|D3YY14-1|SE6L2_MOUSE Computationally mapped isoform of Seizure 6-like protein 2 OS=Mus musculus OX=10090 GN=Sez6l2 PE=1 SV=2 CANONICAL=Q4V9Z5-1" }, "locus": { "chromosome": "7", "start_pos": 126557457, "end_pos": 126550210, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000146017.3", "url": "https://www.ensembl.org/id/ENSMUST00000146017.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000115905.3", "url": "https://www.ensembl.org/id/ENSMUSP00000115905.3" } ] } }, { "isoform_ac": "Q4V9Z5-1", "url": "", "sequence": { "sequence": "MGTPKAQHPPPSQLLLLILLSCAWIEGLPLKEDEMMPEPGSETPTVASEDLAELLHGALLRKGPEIGFLPGSDPDPTLATPPAGQTLAAPSLPRATEPGTGPLTTAVTPKGVRGAGPTAPELLTPPPGTTAPPPPGPASPVPPLRPEGGEEETTTTIITTTTVTTTVTSPVLCNNNISEGEGFVESPDLGSTASRSVELLDCTYSIHVYPGYGIEIQVQTLNLSQEEELLVLAGGGSPGLAPRLLANSSMLGEGQVLRSPTNRLLLHFQSPRVPRGNGFRIHYQAYLLSCGFPPRPAHGDVSVTDLHPGGTATFHCDSGYQLQGEETLICLNGTRPAWTGEPPSCTASCGGTIHNATLGRIVSPEPGGAAGPNLTCRWVIEAAEGRRLHLHFERVSLDEDNDRLMVRSGGSPLSPVIYDSDMDDVPERGLISDAQSLYVELLSETPANPLLLSLRFEAFEEDRCFPPFLAHGNVTTTDPEFHPGALATFSCLPGYALEPPGPPNAIECVDPTEPHWNDTEPACKAMCGGELSEPAGVVLSPDWPQSYSPGQDCVWGLHVQEEKRILLQVEILNVREGDMLTLFDGDGPSARVLAQLRGPQPRRRLLSSGPDLTLQFQAPPGPPNPGLGQGFVLHFKEVPRNDTCPELPPPEWGWRTASHGDLIRGTVLTYQCEPGYELLGSDILTCQWDLSWSAAPPACQKIMTCADPGEITNGHRTASDAGFPVGSHVQYRCLPGYSLEGAAVLTCYSRDTGTPKWSDRVPKCALKYEPCLNPGVPENGYQTLYKHHYQAGESLRFFCYEGFELIGEVTITCVPGHPSQWTSQPPLCKVTQTTDPSRQLEGGNLALAILLPLGLVIVLGIGVYIYYTKLQGKSLFGFSGSHSYSPITVESDFSNPLYEAGDTREYEVSI", "length": 910, "header": "sp|Q4V9Z5-1|SE6L2_MOUSE Isoform 1 of Seizure 6-like protein 2 OS=Mus musculus OX=10090 GN=Sez6l2 PE=1 SV=1 CANONICAL=Q4V9Z5-1" }, "locus": { "chromosome": "7", "start_pos": 126569251, "end_pos": 126550210, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000106335", "url": "https://www.ensembl.org/id/ENSMUST00000106335" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000101942", "url": "https://www.ensembl.org/id/ENSMUSP00000101942" } ] } }, { "isoform_ac": "Q4V9Z5-2", "url": "", "sequence": { "sequence": "MGTPKAQHPPPSQLLLLILLSCAWIEGLPLKEDEMMPEPGSETPTVASEDLAELLHGALLRKGPEIGFLPGSDPDPTLATPPAGQTLAAPSLPRATEPGTGPLTTAVTPKGVRGAGPTAPELLTPPPGTTAPPPPGPASPVPPLRPEGGEEETTTTIITTTTVTTTVTSPVLCNNNISEGEGFVESPDLGSTASRSVELLDCTYSIHVYPGYGIEIQVQTLNLSQEEELLVLAGGGSPGLAPRLLANSSMLGEGQVLRSPTNRLLLHFQSPRVPRGNGFRIHYQAYLLSCGFPPRPAHGDVSVTDLHPGGTATFHCDSGYQLQGEETLICLNGTRPAWTGEPPSCTASCGGTIHNATLGRIVSPEPGGAAGPNLTCRWVIEAAEGRRLHLHFERVSLDEDNDRLMVRSGGSPLSPVIYDSDMDDVPERGLISDAQSLYVELLSETPANPLLLSLRFEAFEEDRCFPPFLAHGNVTTTDPEFHPGALATFSCLPGYALEPPGPPNAIECVDPTEPHWNDTEPACKAMCGGELSEPAGVVLSPDWPQSYSPGQDCVWGLHVQEEKRILLQVEILNVREGDMLTLFDGDGPSARVLAQLRGPQPRRRLLSSGPDLTLQFQAPPGPPNPGLGQGFVLHFKEVPRNDTCPELPPPEWGWRTASHGDLIRGTVLTYQCEPGYELLGSDILTCQWDLSWSAAPPACQKIMTCADPGEITNGHRTASDAGFPVGSHVQYRCLPGYSLEGAAVLTCYSRDTGTPKWSDRVPKCALKYEPCLNPGVPENGYQTLYKHHYQAGESLRFFCYEGFELIGEVTITCVPGHPSQWTSQPPLCKVAYEELLDNRKLEVTQTTDPSRQLEGGNLALAILLPLGLVIVLGIGVYIYYTKLQGKSLFGFSGSHSYSPITVESDFSNPLYEAGDTREYEVSI", "length": 923, "header": "sp|Q4V9Z5-2|SE6L2_MOUSE Isoform 2 of Seizure 6-like protein 2 OS=Mus musculus OX=10090 GN=Sez6l2 PE=1 SV=1 CANONICAL=Q4V9Z5-1" }, "locus": { "chromosome": "7", "start_pos": 126569251, "end_pos": 126550210, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000106333", "url": "https://www.ensembl.org/id/ENSMUST00000106333" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000101940", "url": "https://www.ensembl.org/id/ENSMUSP00000101940" } ] } }, { "isoform_ac": "Q4V9Z5-3", "url": "", "sequence": { "sequence": "MGTPKAQHPPPSQLLLLILLSCAWIEGLPLKEDEMMPEPGSETPTVASEDLAELLHGALLRKGPEIGFLPAPPPPGPASPVPPLRPEGGEEETTTTIITTTTVTTTVTSPVLCNNNISEGEGFVESPDLGSTASRSVELLDCTYSIHVYPGYGIEIQVQTLNLSQEEELLVLAGGGSPGLAPRLLANSSMLGEGQVLRSPTNRLLLHFQSPRVPRGNGFRIHYQAYLLSCGFPPRPAHGDVSVTDLHPGGTATFHCDSGYQLQGEETLICLNGTRPAWTGEPPSCTASCGGTIHNATLGRIVSPEPGGAAGPNLTCRWVIEAAEGRRLHLHFERVSLDEDNDRLMVRSGGSPLSPVIYDSDMDDVPERGLISDAQSLYVELLSETPANPLLLSLRFEAFEEDRCFPPFLAHGNVTTTDPEFHPGALATFSCLPGYALEPPGPPNAIECVDPTEPHWNDTEPACKAMCGGELSEPAGVVLSPDWPQSYSPGQDCVWGLHVQEEKRILLQVEILNVREGDMLTLFDGDGPSARVLAQLRGPQPRRRLLSSGPDLTLQFQAPPGPPNPGLGQGFVLHFKEVPRNDTCPELPPPEWGWRTASHGDLIRGTVLTYQCEPGYELLGSDILTCQWDLSWSAAPPACQKIMTCADPGEITNGHRTASDAGFPVGSHVQYRCLPGYSLEGAAVLTCYSRDTGTPKWSDRVPKCALKYEPCLNPGVPENGYQTLYKHHYQAGESLRFFCYEGFELIGEVTITCVPGHPSQWTSQPPLCKVAYEELLDNRKLEVTQTTDPSRQLEGGNLALAILLPLGLVIVLGIGVYIYYTKLQGKSLFGFSGSHSYSPITVESDFSNPLYEAGDTREYEVSI", "length": 863, "header": "sp|Q4V9Z5-3|SE6L2_MOUSE Isoform 3 of Seizure 6-like protein 2 OS=Mus musculus OX=10090 GN=Sez6l2 PE=1 SV=1 CANONICAL=Q4V9Z5-1" }, "locus": { "chromosome": "7", "start_pos": 126569251, "end_pos": 126550210, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000106332", "url": "https://www.ensembl.org/id/ENSMUST00000106332" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000101939", "url": "https://www.ensembl.org/id/ENSMUSP00000101939" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 222, "start_aa": "Asn", "end_pos": 222, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn222", "evidence": [ { "id": "Q4V9Z5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4V9Z5#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 332, "start_aa": "Asn", "end_pos": 332, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn332", "evidence": [ { "id": "Q4V9Z5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4V9Z5#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 373, "start_aa": "Asn", "end_pos": 373, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn373", "evidence": [ { "id": "Q4V9Z5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4V9Z5#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 473, "start_aa": "Asn", "end_pos": 473, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn473", "evidence": [ { "id": "Q4V9Z5", "database": "UniProtKB", "url": 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"glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Disturbance of cerebellar synaptic maturation in mutant mice lacking BSRPs, a novel brain-specific receptor-like protein family.", "journal": "FEBS Lett.", "date": "2006", "authors": "Kondo H., Kume H., Nakamura Y., Watanabe M., Miyazaki T., Fukunaga K., Sakagami H., Nishi M., Hashimoto K., Tohgo A., Takeshima H., Kaneko I., Kano M., Saito S.Y., Uda A.", "evidence": [ { "database": "UniProtKB", "id": "Q4V9Z5", "url": "https://www.uniprot.org/uniprot/Q4V9Z5" } ], "reference": [ { "type": "PubMed", "id": "16814779", "url": "https://glygen.org/publication/PubMed/16814779" } ] }, { "title": "Association and mutation analyses of 16p11.2 autism candidate genes.", "journal": "PloS one", "date": "2009", "authors": "Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL", "evidence": [ { "database": "RefSeq", "id": "NP_001239495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239495" } ], "reference": [ { "type": "PubMed", "id": "19242545", "url": "https://glygen.org/publication/PubMed/19242545" } ] }, { "title": "Sez6l2 regulates phosphorylation of ADD and neuritogenesis.", "journal": "Biochemical and biophysical research communications", "date": "2017", "authors": "Yaguchi H, Yabe I, Takahashi H, Watanabe M, Nomura T, Kano T, Matsumoto M, Nakayama KI, Watanabe M, Hatakeyama S", "evidence": [ { "database": "RefSeq", "id": "NP_001239495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239495" } ], "reference": [ { "type": "PubMed", "id": "29032200", "url": "https://glygen.org/publication/PubMed/29032200" } ] }, { "title": "BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains.", "journal": "PloS one", "date": "2018", "authors": "Causevic M, Dominko K, Malnar M, Vidatic L, Cermak S, Pigoni M, Kuhn PH, Colombo A, Havas D, Flunkert S, McDonald J, Gunnersen JM, Hutter-Paier B, Tahirovic S, Windisch M, Krainc D, Lichtenthaler SF, Hecimovic S", "evidence": [ { "database": "RefSeq", "id": "NP_001239495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239495" } ], "reference": [ { "type": "PubMed", "id": "29979789", "url": "https://glygen.org/publication/PubMed/29979789" } ] }, { "title": "O-GlcNAcylation regulates dopamine neuron function, survival and degeneration in Parkinson disease.", "journal": "Brain : a journal of neurology", "date": "2020", "authors": "Lee BE, Kim HY, Kim HJ, Jeong H, Kim BG, Lee HE, Lee J, Kim HB, Lee SE, Yang YR, Yi EC, Hanover JA, Myung K, Suh PG, Kwon T, Kim JI", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q4V9Z5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q4V9Z5" } ], "reference": [ { "type": "PubMed", "id": "33300544", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ], "pathway": [ { "id": "mmu:233878", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:233878", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I5ZQG6-1", "protein_name": "Seizure related 6 homolog like 2", "gene_name": "Sez6l2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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