{ "uniprot_canonical_ac": "P09084-1", "uniprot_ac": "P09084", "uniprot_id": "PAX1_MOUSE", "mass": { "chemical_mass": 46263.0, "monoisotopic_mass": 46263.0 }, "refseq": { "ac": "NP_032806", "name": "paired box protein Pax-1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032806" }, "gene_names": [ { "name": "Pax1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P09084", "id": "P09084" }, { "name": "Pax-1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09084", "id": "P09084" }, { "name": "Pax1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032806", "id": "NP_032806" }, { "name": "hbs; hunchback; Pax-1; un; undulated; wt", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032806", "id": "NP_032806" } ], "protein_names": [ { "name": "Paired box protein Pax-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P09084" }, { "name": "paired box protein Pax-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032806", "id": "NP_032806" }, { "name": "wavy tail; paired box gene 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032806", "id": "NP_032806" } ], "function": [ { "annotation": "This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column.", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084#function" } ] } ], "disease": [ { "disease_id": "DOID:14702", "recommended_name": { "id": "DOID:14702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14702", "name": "branchiootorenal syndrome", "description": "A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities." }, "synonyms": [ { "id": "DOID:14702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14702", "name": "Branchio-Oto-renal syndrome", "description": "" }, { "id": "DOID:14702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14702", "name": "Branchio-otorenal dysplasia", "description": "" }, { "id": "DOID:14702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14702", "name": "Melnick-Fraser syndrome", "description": "" }, { "id": "DOID:14702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14702", "name": "branchiootorenal dysplasia", "description": "" } ], "evidence": [ { "id": "14702", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14702" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Pax1", "url": "https://www.uniprot.org/uniprot/P09084", "locus": { "chromosome": "2", "start_pos": 147235215, "end_pos": 147203845, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000037034", "url": "https://www.ensembl.org/id/ENSMUSG00000037034" } ] } } ], "crossref": [ { "id": "ENSMUSG00000037034", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000037034", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00131", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00131", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "18503", "url": "https://www.ncbi.nlm.nih.gov/gene/18503", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR001523", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001523", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009057", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009057", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043182", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043182", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043565", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043565", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:18503", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:18503", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "97485", "url": "http://www.informatics.jax.org/marker/MGI:97485", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "VSWERAT", "url": "https://omabrowser.org/oma/group/VSWERAT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5393942at2759", "url": "http://www.orthodb.org/?query=5393942at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45636", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45636", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45636:SF15", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45636:SF15", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00292", "url": "http://pfam.xfam.org/family/PF00292", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P09084", "url": "http://purl.obolibrary.org/obo/PR_P09084", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_032806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032806", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A2ALK0", "url": "https://www.uniprot.org/uniprot/A2ALK0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2ALK0-1", "url": "https://www.uniprot.org/uniprot/A2ALK0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09084-1", "url": "https://www.uniprot.org/uniprot/P09084-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKFTLGLGSRAWRVSWERAAAAAAGPGAGGALGSGSLRVSSRRGPRLARALPLCLSGGGGARALPDCAGPSPRRSGARQLAGPRAMEQTYGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGGSKPRVTTPNVVKHIRDYKQGDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGSLAQPGPYEASKQPPPQPALPYNHIYQYPYPSPVSPTGTKMGTHPGVPGSAGHVSIPRSWPSAHSVSNILGIRTFMEQTGALAGSEGAAYSPKMEDWAGVNRAAFPTSPAVNGLEKPALEADIKYTQSASSLSAVGGFLPACAYPASNQHGVYSAPAAGYLSPGPPWPPAQAPPLTPHGAGVAVHGGELAAAMTFKHREGTDRKPPSPGGKATDALGSLHGLPIPASTS", "length": 446, "header": "sp|P09084-1|PAX1_MOUSE Isoform 1 of Paired box protein Pax-1 OS=Mus musculus OX=10090 GN=Pax1 PE=1 SV=4 CANONICAL=P09084-1" }, "isoforms": [ { "isoform_ac": "A2ALK0-1", "url": "", "sequence": { "sequence": "MQYYFIKPKVKYTSFLTFACASWTISCSRAVEITKPQPGKLKRHFAFCTPTFAPPHPASCAGTCAAKPGPDPTGGDKLFPVRRISPNRMKFTLGLGSRAWRVSWERAAAAAAGPGAGGALGSGSLRVSSRRGPRLARALPLCLSGGGGARALPDCAGPSPRRSGARQLAGPRAMEQTYGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGGSKPRVTTPNVVKHIRDYKQGDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGSLAQPGPYEASKQPPPQPALPYNHIYQYPYPSPVSPTGTKMGTHPGVPGSAGHVSIPRSWPSAHSVSNILGIRTFMEQT", "length": 384, "header": "tr|A2ALK0-1|A2ALK0_MOUSE Computationally mapped isoform of Paired box 1 OS=Mus musculus OX=10090 GN=Pax1 PE=1 SV=2 CANONICAL=P09084-1" }, "locus": { "chromosome": "2", "start_pos": 147208281, "end_pos": 147204221, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000126068.9", "url": "https://www.ensembl.org/id/ENSMUST00000126068.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000119667.3", "url": "https://www.ensembl.org/id/ENSMUSP00000119667.3" } ] } }, { "isoform_ac": "P09084-1", "url": "", "sequence": { "sequence": "MKFTLGLGSRAWRVSWERAAAAAAGPGAGGALGSGSLRVSSRRGPRLARALPLCLSGGGGARALPDCAGPSPRRSGARQLAGPRAMEQTYGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGGSKPRVTTPNVVKHIRDYKQGDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGSLAQPGPYEASKQPPPQPALPYNHIYQYPYPSPVSPTGTKMGTHPGVPGSAGHVSIPRSWPSAHSVSNILGIRTFMEQTGALAGSEGAAYSPKMEDWAGVNRAAFPTSPAVNGLEKPALEADIKYTQSASSLSAVGGFLPACAYPASNQHGVYSAPAAGYLSPGPPWPPAQAPPLTPHGAGVAVHGGELAAAMTFKHREGTDRKPPSPGGKATDALGSLHGLPIPASTS", "length": 446, "header": "sp|P09084-1|PAX1_MOUSE Isoform 1 of Paired box protein Pax-1 OS=Mus musculus OX=10090 GN=Pax1 PE=1 SV=4 CANONICAL=P09084-1" }, "locus": { "chromosome": "2", "start_pos": 147215722, "end_pos": 147206968, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000109968", "url": "https://www.ensembl.org/id/ENSMUST00000109968" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000105594", "url": "https://www.ensembl.org/id/ENSMUSP00000105594" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "The molecular basis of the undulated/Pax-1 mutation.", "journal": "Cell", "date": "1991", "authors": "Chalepakis G, Fritsch R, Fickenscher H, Deutsch U, Goulding M, Gruss P", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "reference": [ { "type": "PubMed", "id": "1889089", "url": "https://glygen.org/publication/PubMed/1889089" } ] }, { "title": "Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development.", "journal": "Cell", "date": "1988", "authors": "Deutsch U., Gruss P., Dressler G.R.", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "reference": [ { "type": "PubMed", "id": "2453291", "url": "https://glygen.org/publication/PubMed/2453291" } ] }, { "title": "Undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1.", "journal": "Cell", "date": "1988", "authors": "Balling R, Deutsch U, Gruss P", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "reference": [ { "type": "PubMed", "id": "3180219", "url": "https://glygen.org/publication/PubMed/3180219" } ] } ], "pathway": [ { "id": "mmu:18503", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:18503", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6GM82-1", "protein_name": "Paired box 1", "gene_name": "Pax1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTPLPFRKQVRKATKSDNEDWLLAQLGLGCFPVRRISPNRMKFTLGLGSRAWRVSWERAAAAAAAVPGAGGALGSGSLRVSSRRGPRLARALPLCLSGGGGARALPDCAGPSPRRSGARQLAGPRAMEQTYGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGGSKPRVTTPNVVKHIRDYKQGDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGSLAQPGPYEASKQPPPQPALPYNHIYQYPYPSPVSPTGTKMGSHPGVPGSAGHVSIPRSWPSAHSVSNILGIRTFMEQTGALAGSEGAAYSPKVEDWASVNRAAFSTSSAVNGLEKPALEADIKYTQSASSLSAVGGFLPACAYPASNQHGVYSAPAAGYLSPGPPWPPAQAPPLAPHGAGVAVHGGELAAAMTFKHPSREGTDRKPPSPGGKATDALGSLHGLSIPASTS", "length": 489 }, "evidence": [ { "id": "45233985", "url": "http://www.informatics.jax.org/homology/45233985", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P15863-1", "protein_name": "Paired box protein Pax-1", "gene_name": "PAX1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MKFTLGLGSRAWRVSWEGAAAAAAGPGAGGSALRCRAQRVSSPRLGRRGSRLSGALPLCLSRGGGGAQALPDCAGPSPGHPGHPGARQLAGPLAMEQTYGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGGSKPRVTTPNVVKHIRDYKQGDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGSLAQPGPYEASKQPPSQPTLPYNHIYQYPYPSPVSPTGAKMGSHPGVPGTAGHVSIPRSWPSAHSVSNILGIRTFMEQTGALAGSEGTAYSPKMEDWAGVNRTAFPATPAVNGLEKPALEADIKYTQSASTLSAVGGFLPACAYPASNQHGVYSAPGGGYLAPGPPWPPAQGPPLAPPGAGVAVHGGELAAAMTFKHPSREGSLPAPAARPRTPSVAYTDCPSRPRPPRGSSPRTRARRERQADPGAQVCAAAPAIGTGRIGGLAEEEASAGPRGARPASPQAQPCLWPDPPHFLYWSGFLGFSELGF", "length": 534 }, "evidence": [ { "id": "45233985", "url": "http://www.informatics.jax.org/homology/45233985", "database": "MGI" }, { "id": "P09084", "url": "https://omabrowser.org/oma/group/P09084/", "database": "OMA" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 16, "go_terms": [ { "name": "CD4-positive, alpha-beta T cell differentiation", "id": "GO:0043367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043367", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "CD8-positive, alpha-beta T cell differentiation", "id": "GO:0043374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043374", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "parathyroid gland development", "id": "GO:0060017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060017", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "anatomical structure development", "id": "GO:0048856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048856", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "sclerotome development", "id": "GO:0061056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061056", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "tissue development", "id": "GO:0009888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": "https://www.uniprot.org/uniprot/P09084" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P09084", "url": 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