{ "uniprot_canonical_ac": "Q0V8T8-1", "uniprot_ac": "Q0V8T8", "uniprot_id": "CTP5B_MOUSE", "mass": { "chemical_mass": 144260.0, "monoisotopic_mass": 144260.0 }, "refseq": { "ac": "NP_766439", "name": "contactin-associated protein like 5-2 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766439" }, "gene_names": [ { "name": "Cntnap5b", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q0V8T8", "id": "Q0V8T8" }, { "name": "C230078M14Rik; Caspr5-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766439", "id": "NP_766439" }, { "name": "Caspr5-2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q0V8T8", "id": "Q0V8T8" }, { "name": "Cntnap5b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766439", "id": "NP_766439" } ], "protein_names": [ { "name": "Contactin-associated protein like 5-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q0V8T8" }, { "name": "Cell recognition molecule Caspr5-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q0V8T8" }, { "name": "Cell recognition molecule Caspr5b", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q0V8T8" }, { "name": "Contactin-associated protein-like 5b", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q0V8T8" }, { "name": "contactin-associated protein like 5-2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766439", "id": "NP_766439" }, { "name": "contactin-associated protein like 5-2; cell recognition molecule Caspr5b; cell recognition molecule Caspr5-2; contactin-associated protein-like 5b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766439", "id": "NP_766439" } ], "function": [ { "annotation": "Caspr5-2 disruption leads to dysfunction at the cellular level rather than at the level of organ development.", "evidence": [ { "database": "RefSeq", "id": "NP_766439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766439" }, { "database": "PubMed", "id": "18949514", "url": "https://glygen.org/publication/PubMed/18949514" } ] }, { "annotation": "May play a role in the correct development and proper functioning of the peripheral and central nervous system and be involved in cell adhesion and intercellular communication.", "evidence": [ { "database": "UniProtKB", "id": "Q0V8T8", "url": "https://www.uniprot.org/uniprot/Q0V8T8#function" } ] }, { "annotation": "The three Caspr5 genes are located on chromosomes 1 & 17; all three paralogs are expressed; common expression is found in brain tissue but different expression patterns are seen in other organs during fetal development and & in the adult stage", "evidence": [ { "database": "RefSeq", "id": "NP_766439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766439" }, { "database": "PubMed", "id": "16845472", "url": "https://glygen.org/publication/PubMed/16845472" } ] } ], "disease": [ { "disease_id": "DOID:0060041", "recommended_name": { "id": "DOID:0060041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior." }, "synonyms": [], "evidence": [ { "id": "0060041", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "disease_id": "DOID:0060308", "recommended_name": { "id": "DOID:0060308", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060308", "name": "autosomal recessive intellectual developmental disorder", "description": "A intellectual disability characterized by an autosomal recessive inheritance pattern." }, "synonyms": [ { "id": "DOID:0060308", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060308", "name": "autosomal recessive non-syndromic mental retardation", "description": "" }, { "id": "DOID:0060308", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060308", "name": "autosomal recessive mental retardation", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "intellectual disability, autosomal recessive 1", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene." }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "PRSS12 autosomal recessive non-syndromic intellectual disability", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "intellectual disability, autosomal recessive 1", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "intellectual disability, autosomal recessive type 1", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "mental retardation, autosomal recessive type 1", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "MRT1", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "mental retardation, autosomal recessive 1", "description": "" }, { "id": "MIM:249500", "resource": "MIM", "url": "https://www.omim.org/entry/249500", "name": "Intellectual developmental disorder, autosomal recessive 1", "description": "Intellectual developmental disorder, autosomal recessive 1" } ], "evidence": [ { "id": "0060308", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] } ], "snv": [ { "evidence": [ { "id": "rs1131723516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131723516" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1044, "end_pos": 1044, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->KFS).", "chr_id": "1", "chr_pos": "100318373", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1044", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs249035365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249035365" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1113, "end_pos": 1113, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "1", "chr_pos": "100374589", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3388492530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388492530" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 624, "end_pos": 624, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVN).", "chr_id": "1", "chr_pos": "100182901", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T624", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q0V8T8", "url": "https://www.uniprot.org/uniprot/Q0V8T8" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Cntnap5b", "url": "https://www.uniprot.org/uniprot/Q0V8T8", "locus": { "chromosome": "1", "start_pos": 100413667, "end_pos": 99700490, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000067028", "url": "https://www.ensembl.org/id/ENSMUSG00000067028" } ] } } ], "crossref": [ { "id": "ENSMUSG00000067028", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000067028", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00054", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00057", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00057", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00110", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00110", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "241175", "url": "https://www.ncbi.nlm.nih.gov/gene/241175", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "GPDB0003960", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0003960", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0003961", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0003961", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "IPR000421", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000421", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001791", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001791", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002181", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002181", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008979", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008979", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013320", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013320", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036056", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036056", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:241175", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:241175", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "3664583", "url": "http://www.informatics.jax.org/marker/MGI:3664583", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "ELSIPWQ", "url": "https://omabrowser.org/oma/group/ELSIPWQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4255614at2759", "url": "http://www.orthodb.org/?query=4255614at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15036", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15036", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15036:SF75", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15036:SF75", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00754", "url": "http://pfam.xfam.org/family/PF00754", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02210", "url": "http://pfam.xfam.org/family/PF02210", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q0V8T8", "url": "http://purl.obolibrary.org/obo/PR_Q0V8T8", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_766439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766439", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WPQ7", "url": "https://www.uniprot.org/uniprot/A0A087WPQ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WPQ7-1", "url": "https://www.uniprot.org/uniprot/A0A087WPQ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q0V8T8", "url": "https://www.uniprot.org/uniprot/Q0V8T8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q0V8T8-1", "url": "https://www.uniprot.org/uniprot/Q0V8T8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q0V8T8-2", "url": "https://www.uniprot.org/uniprot/Q0V8T8-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDSVPRLTSILTLVLSGLWHVGLTATNYNCDDPLASFLSPKAFSSSSDLTGSSSSAQLNGRMGTGGWSPENSSAHQWLQLDLGNRVEITAVATQGRYGSSDWVTSYCLIFSDTGHNWQQYKQGDSIWTFIGNMNANSVVHHKLLHAVRARFVRFVPLEWNPNGKIGMRVEVYGCFYKSDVADFDGRSSLLYRFNQKTMSTLKDVISLKFKSMQGDGVLFHGEGQRGDHITLELQNGRLALYLNLDDSKARLSSITPSAILGSLLDDQHWHSVLLERVGKQANFTVDRNTQHFRTNGDTDALDIDYELSFGGIPVPSKPGTFLKKNFQGCIENLYYNGVNIIDLAKRRKHQIYSGNVTFSCSEPQIVPITFVNSRSSYLLLPGTPQIDGLSVSFQFRTWNEDGLLLSTELSEGSGTLLLILEGGTLRLLIKNVAGHGTESLTGRSLNNGQWHSVNINARRNRVTLTLDNDPASPALETPWLQIYSGYSYYFGGCPDNLTDSQCLNPIKAFQGCMRLIFIDNQPKDLISVQQGSLGNFSDLHIDLCSIKDRCFPNYCEHGGHCTQTWTNFYCNCSNTGYTGATCHDSIYEQSCEVYRHRGNTAGYFYVDSDGSGPLRPLQVYCNVTEDKIWMTVQHNNTELTWIQGSNTEKPYVMNLNYGGSMEQLEALIDGSEHCEQEVTYYCRRSHLLNTPDGAPFAWWTGRSNERHPYWGGYFPGDQKCGCGLEESCLEMSNDTGFLSFKDHLPVTQIIISDTNRSNSEAAWRIGPLRCYGDRHFWNAVSFSTEAAYLHIPTFHAEFSADISFFFKTTALSGVFLENLGVKNFLRLEMSSPSEVIFAIDVGNGPMELLVQSPYPLNDNQWHYIQAERNIKETLLHVDNLPKSMRMASEEGHFLLQLNSQLFVGGTSSRQKGFLGCIRSLHLNGQKVDLEERAKITSGVRPGCAGHCNSYGRNCQNGGKCVEKHIGYTCDCTNSPYEGPFCKKEISALFYSGTSVTYMFQEPYPVTKNTSLSSSAIYKDTAPSKEAITLSFMTAQAPTLLLYLNFSSQNFLAILLSRNGSLQIQYRLSKEESHVFTISTENLANRRVHQVKMSRDGPELSIQMDQQLFSYNFPPEVEFQTVRSLILGKVTETLGLDPEVAKANTLGFVGCLSSVQYNHIAPLKAALRHASISPVTVQGTLTESSCDSMIDSDVTGVTTVYSPSVPFGKTDEHEPLTNTIQSDSAFIGGVIAIVTFITFCVLGIMVHFLYQQKQSHRTNQMKEKEYPDNLDSSFRNDIDLQNTAIECKREYFI", "length": 1292, "header": "sp|Q0V8T8-1|CTP5B_MOUSE Isoform 1 of Contactin-associated protein like 5-2 OS=Mus musculus OX=10090 GN=Cntnap5b PE=2 SV=1 CANONICAL=Q0V8T8-1" }, "isoforms": [ { "isoform_ac": "A0A087WPQ7-1", "url": "", "sequence": { "sequence": "SKPGTFLKKNFQGCIENLYYNGVNIIDLAKRRKHQIYSVGNVTFSCSEPQIVPITFVNSRSSYLLLPGTPQIDGLSVSFQFRTWNEDGLLLSTELSEGSGTLLLILEGGTLRLLIKNVAGHGTESLTGRSLNNGQWHSVNINARRNRVTLTLDNDPASPALETPWLQIYSGYSYYFGGCPDNLTDSQCLNPIKAFQGCMRLIFIDNQPKDLISVQQGSLGNFSDLHIDLCSIKDRCFPNYCEHGGHCTQTWTNFYCNCSNTGYTGATCHDSIYEQSCEVYRHRGNTAGYFYVDSDGSGPLRPLQVYCNVTEDKIWMTVQHNNTELTWIQGSNTEKPYVMNLNYGGSMEQLEALIDGSEHCEQEVTYYCRRSHLLNTPDGAPFAWWTGRSNERHPYWGGYFPGDQKCGCGLEESCLEMSNDTGFLSFKDHLPVTQIIISDTNRSNSEAAWRIGPLRCYGDPPSEVIFAIDVGNGPMELLVQSPYPLNDNQWHYIQAERNIKETLLHVDNLPKSMRMASEEGHFLLQLNSQLFVGGTSSRQKGFLGCIRSLHLNGQKVDLEERAKITSGVRPGCAGHCNSYGRNCQNGGKCVEKHIGYTCDCTNSPYEGPFCKKEISALFYSGTSVTYMFQEPYPVTKNTSLSSSAIYKDTAPSKEAITLSFMTAQAPTLLLYLNFSSQNFLAILLSRNGSLQIQYRLSKEESHVFTISTENLANRRVHQVKMSRDGPELSIQMDQQLFSYNFPPEVEFQTVRSLILGKVTETLGLDPEVAKANTLGFVGCLSSVQYNHIAPLKAALRHASISPVTVQGTLTESSCDSMIDSDVTGVTTVYSPSVPFGKTDEHEPLTNTIQSDSAFIGGVIAIVTFITFCVLGIMVHFLYQQKQSHRTNQMKEKEYPDNLDSSFRNDIDLQNTAIECKREYFI", "length": 921, "header": "tr|A0A087WPQ7-1|CTP5B_MOUSE Computationally mapped isoform of Contactin-associated protein like 5-2 OS=Mus musculus OX=10090 GN=Cntnap5b PE=2 SV=1 CANONICAL=Q0V8T8-1" }, "locus": { "chromosome": "1", "start_pos": 100412423, "end_pos": 100025486, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000188735.2", "url": "https://www.ensembl.org/id/ENSMUST00000188735.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000139877.2", "url": "https://www.ensembl.org/id/ENSMUSP00000139877.2" } ] } }, { "isoform_ac": "Q0V8T8-1", "url": "", "sequence": { "sequence": "MDSVPRLTSILTLVLSGLWHVGLTATNYNCDDPLASFLSPKAFSSSSDLTGSSSSAQLNGRMGTGGWSPENSSAHQWLQLDLGNRVEITAVATQGRYGSSDWVTSYCLIFSDTGHNWQQYKQGDSIWTFIGNMNANSVVHHKLLHAVRARFVRFVPLEWNPNGKIGMRVEVYGCFYKSDVADFDGRSSLLYRFNQKTMSTLKDVISLKFKSMQGDGVLFHGEGQRGDHITLELQNGRLALYLNLDDSKARLSSITPSAILGSLLDDQHWHSVLLERVGKQANFTVDRNTQHFRTNGDTDALDIDYELSFGGIPVPSKPGTFLKKNFQGCIENLYYNGVNIIDLAKRRKHQIYSGNVTFSCSEPQIVPITFVNSRSSYLLLPGTPQIDGLSVSFQFRTWNEDGLLLSTELSEGSGTLLLILEGGTLRLLIKNVAGHGTESLTGRSLNNGQWHSVNINARRNRVTLTLDNDPASPALETPWLQIYSGYSYYFGGCPDNLTDSQCLNPIKAFQGCMRLIFIDNQPKDLISVQQGSLGNFSDLHIDLCSIKDRCFPNYCEHGGHCTQTWTNFYCNCSNTGYTGATCHDSIYEQSCEVYRHRGNTAGYFYVDSDGSGPLRPLQVYCNVTEDKIWMTVQHNNTELTWIQGSNTEKPYVMNLNYGGSMEQLEALIDGSEHCEQEVTYYCRRSHLLNTPDGAPFAWWTGRSNERHPYWGGYFPGDQKCGCGLEESCLEMSNDTGFLSFKDHLPVTQIIISDTNRSNSEAAWRIGPLRCYGDRHFWNAVSFSTEAAYLHIPTFHAEFSADISFFFKTTALSGVFLENLGVKNFLRLEMSSPSEVIFAIDVGNGPMELLVQSPYPLNDNQWHYIQAERNIKETLLHVDNLPKSMRMASEEGHFLLQLNSQLFVGGTSSRQKGFLGCIRSLHLNGQKVDLEERAKITSGVRPGCAGHCNSYGRNCQNGGKCVEKHIGYTCDCTNSPYEGPFCKKEISALFYSGTSVTYMFQEPYPVTKNTSLSSSAIYKDTAPSKEAITLSFMTAQAPTLLLYLNFSSQNFLAILLSRNGSLQIQYRLSKEESHVFTISTENLANRRVHQVKMSRDGPELSIQMDQQLFSYNFPPEVEFQTVRSLILGKVTETLGLDPEVAKANTLGFVGCLSSVQYNHIAPLKAALRHASISPVTVQGTLTESSCDSMIDSDVTGVTTVYSPSVPFGKTDEHEPLTNTIQSDSAFIGGVIAIVTFITFCVLGIMVHFLYQQKQSHRTNQMKEKEYPDNLDSSFRNDIDLQNTAIECKREYFI", "length": 1292, "header": "sp|Q0V8T8-1|CTP5B_MOUSE Isoform 1 of Contactin-associated protein like 5-2 OS=Mus musculus OX=10090 GN=Cntnap5b PE=2 SV=1 CANONICAL=Q0V8T8-1" }, "locus": { "chromosome": "1", "start_pos": 100412423, "end_pos": 99700490, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000086738", "url": "https://www.ensembl.org/id/ENSMUST00000086738" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000083944", "url": "https://www.ensembl.org/id/ENSMUSP00000083944" } ] } }, { "isoform_ac": "Q0V8T8-2", "url": "", "sequence": { "sequence": "MDSVPRLTSILTLVLSGLWHVGLTATNYNCDDPLASFLSPKAFSSSSDLTGSSSSAQLNGRMGTGGWSPENSSAHQWLQLDLGNRVEITAVATQGRYGSSDWVTSYCLIFSDTGHNWQQYKQGDSIWTFIGNMNANSVVHHKLLHAVRARFVRFVPLEWNPNGKIGMRVEVYGCFYKSDVADFDGRSSLLYRFNQKTMSTLKDVISLKFKSMQGDGVLFHGEGQRGDHITLELQNGRLALYLNLDDSKARLSSITPSAILGSLLDDQHWHSVLLERVGKQANFTVDRNTQHFRTNGDTDALDIDYELSFGGIPVPSKPGTFLKKNFQGCIENLYYNGVNIIDLAKRRKHQIYSGNVTFSCSEPQIVPITFVNSRSSYLLLPGTPQIDGLSVSFQFRTWNEDGLLLSTELSEGSGTLLLILEGGTLRLLIKNVAGHGTESLTGRSLNNGQWHSVNINARRNRVTLTLDNDPASPALETPWLQIYSGYSYYFGGCPDNLTDSQCLNPIKAFQGCMRLIFIDNQPKDLISVQQGSLGNFSDLHIDLCSIKDRCFPNYCEHGGHCTQTWTNFYCNCSNTGYTGATCHDSIYEQSCEVYRHRGNTAGYFYVDSDGSGPLRPLQVYCNVTEDKIWMTVQHNNTELTWIQGSNTEKPYVMNLNYGGSMEQLEALIDGSEHCEQEVTYYCRRSHLLNTPDGAPFAWWTGRSNERHPYWGGYFPGDQKCGCGLEESCLEMSNDTGFLSFKDHLPVTQIIISDTNRSNSEAAWRIGPLRCYGDPPSEVIFAIDVGNGPMELLVQSPYPLNDNQWHYIQAERNIKETLLHVDNLPKSMRMASEEGHFLLQLNSQLFVGGTSSRQKGFLGCIRSLHLNGQKVDLEERAKITSGVRPGCAGHCNSYGRNCQNGGKCVEKHIGYTCDCTNSPYEGPFCKKEISALFYSGTSVTYMFQEPYPVTKNTSLSSSAIYKDTAPSKEAITLSFMTAQAPTLLLYLNFSSQNFLAILLSRNGSLQIQYRLSKEESHVFTISTENLANRRVHQVKMSRDGPELSIQMDQQLFSYNFPPEVEFQTVRSLILGKVTETLGLDPEVAKANTLGFVGCLSSVQYNHIAPLKAALRHASISPVTVQGTLTESSCDSMIDSDVTGVTTVYSPSVPFGKTDEHEPLTNTIQSDSAFIGGVIAIVTFITFCVLGIMVHFLYQQKQSHRTNQMKEKEYPDNLDSSFRNDIDLQNTAIECKREYFI", "length": 1235, "header": "sp|Q0V8T8-2|CTP5B_MOUSE Isoform 2 of Contactin-associated protein like 5-2 OS=Mus musculus OX=10090 GN=Cntnap5b PE=2 SV=1 CANONICAL=Q0V8T8-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1044, "start_aa": "Asn", "end_pos": 1044, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1044", "evidence": [ { "id": "Q0V8T8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q0V8T8#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 282, "start_aa": "Asn", "end_pos": 282, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "Q0V8T8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q0V8T8#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 496, "start_aa": "Asn", "end_pos": 496, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn496", "evidence": [ { "id": "Q0V8T8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q0V8T8#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 622, "start_aa": "Asn", "end_pos": 622, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn622", "evidence": [ { "id": "Q0V8T8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q0V8T8#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "New members of the neurexin superfamily: multiple rodent homologues of the human CASPR5 gene.", "journal": "Mamm. Genome", "date": "2006", "authors": "Traut W, Weichenhan D, Himmelbauer H, Winking H", "evidence": [ { "database": "UniProtKB", "id": "Q0V8T8", "url": "https://www.uniprot.org/uniprot/Q0V8T8" }, { "database": "RefSeq", "id": "NP_766439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766439" } ], "reference": [ { "type": "PubMed", "id": "16845472", "url": "https://glygen.org/publication/PubMed/16845472" } ] }, { "title": "A mouse translocation associated with Caspr5-2 disruption and perinatal lethality.", "journal": "Mammalian genome : official journal of the International Mammalian Genome Society", "date": "2008", "authors": "Weichenhan D, Traut W, Gongrich C, Himmelbauer H, Busch L, Monyer H, Winking H", "evidence": [ { "database": "RefSeq", "id": "NP_766439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766439" } ], "reference": [ { "type": "PubMed", "id": "18949514", "url": "https://glygen.org/publication/PubMed/18949514" } ] } ], "pathway": [ { "id": "mmu:241175", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:241175", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8L2QLT5-1", "protein_name": "Similar to contactin associated protein-like 5 isoform 1", "gene_name": "Cntnap5c", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNSVRRLNSILTLVLSGLWHLGLTATNYNCDEPLASFLSPLAFFSSSDLNGRFSPPQLNWRIGSGGWSPAVSNAHQWLQIDLGNRVEITAVATQGRYGSTDWVTSYRLMFSDTGHNWQQYKQKDSIWTFVGNTNADGVVYHKLLHSMRARFVRFVPLEWNSNGKIGMRVEVYGCSYKSDIVGFDGQSTLLYRFNQKTMSTLKDVISLKFKSMQGDGVLFHGEGQRGDHITLELQKGRLALYLNIDGSKARLSIIAPLAILGSLLDDQHWHSVLLERVGKQANFTVDRNTQHFQIKGETDALDIDYELSFGGIPVPSKPGTFLKKNFHGCIENVYYNGVNIIDLAKRRKHQIYSVGNVTFSCSEPEIVPITFVNSRSSYLLLPGIPQIHGLSVSFHFRTWNEDGLLLSTELSEGSGTLLLILDGGSLRLLIKKVARHGTEIITGSSLNDGLWHSVSINARRNRVTLTLDNDAASPALDTSQLQIYSGNSYYFGGCPDNLTDSQCLNPIKAFQGCMRLIFIDNQPKDLISVQQGSMGNFSDLHIDLCSIKDRCLPNYCEHGGHCAQNWTTFYCNCSDTGYTGATCHDSVYEQSCEVYRHKGHTAGFFYVDSDGSGPLGPLQVYCNITEDKIWMTVQHNNTELTWVQISNAEKAYAMTFNYGGSMEQLEALIDGSEHCEQEVTYYCRRSHLLKTPDGAPFTWWIGRSNKRHNYWEGSVPRVQQCRCVHKENCLDIRSFCNCDADIGEWAKETGFLSFKDHLPVTQIITTDTNRSKSEAAWKIGPLRCYGDRHFWNAVSFTTEASYLYFPTFHAEFSADISFFFKTTALSGVFLENLGIKDFLRLEMSSPSEITFTIDVGNGPVELLIQSPYPLNDNQWHYIRAERNLKETSLQVDNLPQSMREASEEAYFRLHLTSQLFVGGTSSRQKGFLGCMRSLHLNGQNTDLIERAKLMSGVTPGCLGHCSSYGSNCLNGGKCVEKQSGYSCDCTNSPNEGPFCQKEISALFNSGTSVTYLFQEPYLVIKNTSLLSSPIYADTAPSKETIMLNFLTTQAPTILLYLNFSSQNFLAILLSRNGSLQICFRLSKIESHVYTMNTENLANGRVHQVKINKDGPELSIQMDQQLFTYNFSPKVEFWTLKSLVLGKVTETLGLDPEVAKVNILGFVGCLSSVQYNHIAPLKAALRHSGIAPVTVQGTLTESGCDSTLDSDVNAVTTVHSSLDPIGKRDEREPLTDTVQSDSAVIGGIIALVTFVTFCVIGIMIHFLYLHKQSHCTNQTKEKEYSENLSNSFRNAIDLQNTASECKREYFI", "length": 1306 }, "evidence": [ { "id": "45234462", "url": "http://www.informatics.jax.org/homology/45234462", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q0V8T4-1", "protein_name": "Contactin-associated protein like 5-3", "gene_name": "Cntnap5c", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDFVPRLNSVLTLVLSGLWHFGLTATNCDNCDDPLASFLSLRAFSSSSDVTGSSSPAHLNWRMGTGGWSPAYSNAQQWLQIDLGNRVEITAVATQGRYGSSDWVTSYRLMFSDTGHNWQEYKQEDNIWTFVGNMNADSVVHHKLLHSVRARFVRFVPLKWNPDGKIGMRMEVYGCSYRSDVADFDGHSSLLYRFNQKTMSTLKDMISLKFKSMQGDGVLLHGEGQRGDYITLELQNGRLALYLNLDGGQARLSSIAPSAILGSLLDDQQWHSVLLERVGKQTNFTVDTNTEHFQIKAETDALDIDYELSFGGIPIPSKPGTFLKKSFHGCIENLYYNGVNIIDLAKRRKHQIYSGNVTFSCSEPQIVPITFVNSRSSYLLLPGTPRIDGLSVSFQFRTWNEDGLLLSTELSESSGTLLLILEGGTLRLLIKKVAGHGTEIITGSGLNDGLWHFVSINARRNRVTLTLDNDAASLPPDISWLQIYSGNSYYFGGCPDNLTDSQCLNPIKAFQGCMRLIFIDNQPKDLISVQQGSLGNFSDLHIDLCSIKDRCLPNYCEHGGHCVQTWTTFYCNCSNTGYTGATCHDSIYEQSCEVYRHRGNNTSGFFFVDSDGSGPLEPLQLYCNITEDKIWMTIQHNITELTQVQGSNAEKPYSMTLNYGGSMDQLVALIDGSEYCEQEVTYHCRRSRLLNTPDGAPFTWWIGRSNEKHHYWGGSVPGIQKCGCGLEQSCLDIGHFCNCDADTDEWANDTGFLSFKDHLPVTQIIITDTNRSNSEAAWRIGPLRCYGDRHFWNAVSFSTEASYLHFPTSHVEFSIDISFFFKTTALSGVFIENLGIKDFLRLELSSPSEVTFAIDVGNGPTELLVQSPSPLNDNQWHYIQAERNLKETSLQVDNFPRIMRETTEKGHFQLQLNSQMFVGGTSSRQKGFLGCIRSLHLNGQNIDLEERGMVTSGVRPGCPGHCSSYGNNCHNGGKCVEKHNSYSCDCTKSPYEGPFCQKEISALFDSTTSITYMFQEPYPVSKNTSTSSSAIYTDTVLSKETILLSFVTAQAPTLLLYLNFSTPSFLALLLSRNGSLQILYHLSKGESHMFTVSTENLANRRVHHVKMNRDGTELSIQMDQQLFSYNFPLEAEFLTVRSLILGKVTETLGLDPRVARANSLGFIGCLSSVQYNHIAPLKAALRHASIAPATVQGSLREFSCGSMVDSDVNAVTTVYSSSDPFGKTDDHDPLTNAVLSDSAVIGGVIAVVTFITFCVIGIMTRFLYQHKQSHCTSQKKEKEYSENLDSSFRHDIDLQSTTSKCKREYFI", "length": 1307 }, "evidence": [ { "id": "45234462", "url": "http://www.informatics.jax.org/homology/45234462", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8WYK1-1", "protein_name": "Contactin-associated protein-like 5", "gene_name": "CNTNAP5", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MDSLPRLTSVLTLLFSGLWHLGLTATNYNCDDPLASLLSPMAFSSSSDLTGTHSPAQLNWRVGTGGWSPADSNAQQWLQMDLGNRVEITAVATQGRYGSSDWVTSYSLMFSDTGRNWKQYKQEDSIWTFAGNMNADSVVHHKLLHSVRARFVRFVPLEWNPSGKIGMRVEVYGCSYKSDVADFDGRSSLLYRFNQKLMSTLKDVISLKFKSMQGDGVLFHGEGQRGDHITLELQKGRLALHLNLGDSKARLSSSLPSATLGSLLDDQHWHSVLIERVGKQVNFTVDKHTQHFRTKGETDALDIDYELSFGGIPVPGKPGTFLKKNFHGCIENLYYNGVNIIDLAKRRKHQIYTGNVTFSCSEPQIVPITFVNSSGSYLLLPGTPQIDGLSVSFQFRTWNKDGLLLSTELSEGSGTLLLSLEGGILRLVIQKMTERVAEILTGSNLNDGLWHSVSINARRNRITLTLDDEAAPPAPDSTWVQIYSGNSYYFGGCPDNLTDSQCLNPIKAFQGCMRLIFIDNQPKDLISVQQGSLGNFSDLHIDLCSIKDRCLPNYCEHGGSCSQSWTTFYCNCSDTSYTGATCHNSIYEQSCEVYRHQGNTAGFFYIDSDGSGPLGPLQVYCNITEDKIWTSVQHNNTELTRVRGANPEKPYAMALDYGGSMEQLEAVIDGSEHCEQEVAYHCRRSRLLNTPDGTPFTWWIGRSNERHPYWGGSPPGVQQCECGLDESCLDIQHFCNCDADKDEWTNDTGFLSFKDHLPVTQIVITDTDRSNSEAAWRIGPLRCYGDRRFWNAVSFYTEASYLHFPTFHAEFSADISFFFKTTALSGVFLENLGIKDFIRLEISSPSEITFAIDVGNGPVELVVQSPSLLNDNQWHYVRAERNLKETSLQVDNLPRSTRETSEEGHFRLQLNSQLFVGGTSSRQKGFLGCIRSLHLNGQKMDLEERAKVTSGVRPGCPGHCSSYGSICHNGGKCVEKHNGYLCDCTNSPYEGPFCKKEVSAVFEAGTSVTYMFQEPYPVTKNISLSSSAIYTDSAPSKENIALSFVTTQAPSLLLFINSSSQDFVVVLLCKNGSLQVRYHLNKEETHVFTIDADNFANRRMHHLKINREGRELTIQMDQQLRLSYNFSPEVEFRVIRSLTLGKVTENLGLDSEVAKANAMGFAGCMSSVQYNHIAPLKAALRHATVAPVTVHGTLTESSCGFMVDSDVNAVTTVHSSSDPFGKTDEREPLTNAVRSDSAVIGGVIAVVIFIIFCIIGIMTRFLYQHKQSHRTSQMKEKEYPENLDSSFRNEIDLQNTVSECKREYFI", "length": 1306 }, "evidence": [ { "id": "45234462", "url": "http://www.informatics.jax.org/homology/45234462", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q0V8T8", "url": "https://www.uniprot.org/uniprot/Q0V8T8" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q0V8T8", "url": "https://www.uniprot.org/uniprot/Q0V8T8" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q0V8T8", "url": "https://www.uniprot.org/uniprot/Q0V8T8" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q0V8T8", "url": "https://www.uniprot.org/uniprot/Q0V8T8" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1008, "end_pos": 1010, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1044, "end_pos": 1046, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1058, "end_pos": 1060, "annotation": "n_glycosylation_sequon" }, { "start_pos": 282, "end_pos": 284, "annotation": "n_glycosylation_sequon" }, { "start_pos": 355, "end_pos": 357, "annotation": "n_glycosylation_sequon" }, { "start_pos": 496, "end_pos": 498, "annotation": "n_glycosylation_sequon" }, { "start_pos": 535, "end_pos": 537, "annotation": "n_glycosylation_sequon" }, { "start_pos": 571, "end_pos": 573, "annotation": "n_glycosylation_sequon" }, { "start_pos": 622, "end_pos": 624, "annotation": "n_glycosylation_sequon" }, { "start_pos": 635, "end_pos": 637, "annotation": "n_glycosylation_sequon" }, { "start_pos": 71, "end_pos": 73, "annotation": "n_glycosylation_sequon" }, { "start_pos": 733, "end_pos": 735, "annotation": "n_glycosylation_sequon" }, { "start_pos": 755, "end_pos": 757, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 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_predicted", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }