{ "uniprot_canonical_ac": "A0A0G2KB96-1", "ptm_annotation": [], "sequence": { "header": "tr|A0A0G2KB96-1|A0A0G2KB96_RAT Isoform 1 of STIL, centriolar assembly protein OS=Rattus norvegicus OX=10116 GN=Stil PE=4 SV=1 CANONICAL=A0A0G2KB96-1", "length": 1037, "sequence": "MDETRKLLLLLESDPKVYSLPLVGIWLSGIIHIYSPQVWACCLRYMFSSSIQERVFSESGNFIIVLYSLTHKEPEFYECLPCDSRTPELQFQLLTNKETFHLFKNVEPSSKNLMHFELSAESQDAEAEAKLFSKISKDLSVKRASQKVSPGKIPINKRDTDLEDEDFSPRPIPSPHPVSQKISKIQPSVPELSLVLDNNFTESSNPSKPVEVMAVENPLLIKPSQPELCDDKHSSEANTGEPFLRGLPNQLSQDTALRQCRGKQSSTCMKESLPFRSTNAKPSLNAPSPDVAEKLQAVSAGSMSKEDYPVRPSLLDSRQPSLAPQAHPHNLVFSPHNSTRPMELQVPTPSLPSYYSTNVCSCCQHHGHIQYSTINSWQGNTVGSVQDLRSEALPKHAFFHSSGCPSLCPNAIYSSSSPVTMKPQGGVDTYSPHSNGEPSPVAGPSHVDSCVPHPCAVCMHTPTTAPDNGMMGLSPDAYRFVTEQDRQLRLLQAQIQRLLEAQSLDPGSHKSVATAEDSVKAARQMELVSVEAQSSPGLHMRKSVSIAVSTGASLFWNAAGDDQEHDAQLKQDDTKISSEDMNFSVDINNEATSPPGSASSLKAVDIPSFEESNPAVEEFNQPLPESNSSEQRKEPDVPVFFPNALLAESVSMCLQTAPAEGASNSTESPQGTKVEPFGPSDNKIYQDLLGQVNHLLSNSSQETDQPPTRAVVINHECTKTQNAHHARKKRHTSGLVDTDCVLSATIKQLRSLGVKIDSPTKVKKSAQKVDHASVLACISPEAVISGLNYMSFGNIGMSSLSPTGVDLSMEANAIALRYLSENQLSQLSLARSNQNHCDSSLGLLHINSDKSSVGLSLVSPSNMSFATKKYMKRYGLLQSSDNSEDEDEEEPPGHSDSESNRVLNRNPACKPAQCGPERAPSRNACETAQCSNGGSGDTHTDVPVLRNITNQAQQPRAAEHLTQDSAVSLRNLKPHPAVNLRTGKAEFTRHPEKENERDIAVFPELSQSPETLKQMNSMNSVGTFLDVKRLRQLPKLF" }, "uniprot_id": "A0A0G2KB96_RAT", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "publication": [], "uniprot_ac": "A0A0G2KB96", "site_annotation": [ { "end_pos": 201, "annotation": "n_glycosylation_sequon", "start_pos": 199 }, { "end_pos": 339, "annotation": "n_glycosylation_sequon", "start_pos": 337 }, { "end_pos": 584, "annotation": "n_glycosylation_sequon", "start_pos": 582 }, { "end_pos": 629, "annotation": "n_glycosylation_sequon", "start_pos": 627 }, { "end_pos": 666, "annotation": "n_glycosylation_sequon", "start_pos": 664 }, { "end_pos": 700, "annotation": "n_glycosylation_sequon", "start_pos": 698 }, { "end_pos": 864, "annotation": "n_glycosylation_sequon", "start_pos": 862 }, { "end_pos": 949, "annotation": "n_glycosylation_sequon", "start_pos": 947 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96#A0A0G2KB96-1", "isoform_ac": "A0A0G2KB96-1", "locus": { "end_pos": 133822653, "strand": "-", "start_pos": 133850179, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000081075", "id": "ENSRNOT00000081075", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000075706", "id": "ENSRNOP00000075706", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0G2KB96-1|A0A0G2KB96_RAT Isoform 1 of STIL, centriolar assembly protein OS=Rattus norvegicus OX=10116 GN=Stil PE=4 SV=1 CANONICAL=A0A0G2KB96-1", "length": 1037, "sequence": "MDETRKLLLLLESDPKVYSLPLVGIWLSGIIHIYSPQVWACCLRYMFSSSIQERVFSESGNFIIVLYSLTHKEPEFYECLPCDSRTPELQFQLLTNKETFHLFKNVEPSSKNLMHFELSAESQDAEAEAKLFSKISKDLSVKRASQKVSPGKIPINKRDTDLEDEDFSPRPIPSPHPVSQKISKIQPSVPELSLVLDNNFTESSNPSKPVEVMAVENPLLIKPSQPELCDDKHSSEANTGEPFLRGLPNQLSQDTALRQCRGKQSSTCMKESLPFRSTNAKPSLNAPSPDVAEKLQAVSAGSMSKEDYPVRPSLLDSRQPSLAPQAHPHNLVFSPHNSTRPMELQVPTPSLPSYYSTNVCSCCQHHGHIQYSTINSWQGNTVGSVQDLRSEALPKHAFFHSSGCPSLCPNAIYSSSSPVTMKPQGGVDTYSPHSNGEPSPVAGPSHVDSCVPHPCAVCMHTPTTAPDNGMMGLSPDAYRFVTEQDRQLRLLQAQIQRLLEAQSLDPGSHKSVATAEDSVKAARQMELVSVEAQSSPGLHMRKSVSIAVSTGASLFWNAAGDDQEHDAQLKQDDTKISSEDMNFSVDINNEATSPPGSASSLKAVDIPSFEESNPAVEEFNQPLPESNSSEQRKEPDVPVFFPNALLAESVSMCLQTAPAEGASNSTESPQGTKVEPFGPSDNKIYQDLLGQVNHLLSNSSQETDQPPTRAVVINHECTKTQNAHHARKKRHTSGLVDTDCVLSATIKQLRSLGVKIDSPTKVKKSAQKVDHASVLACISPEAVISGLNYMSFGNIGMSSLSPTGVDLSMEANAIALRYLSENQLSQLSLARSNQNHCDSSLGLLHINSDKSSVGLSLVSPSNMSFATKKYMKRYGLLQSSDNSEDEDEEEPPGHSDSESNRVLNRNPACKPAQCGPERAPSRNACETAQCSNGGSGDTHTDVPVLRNITNQAQQPRAAEHLTQDSAVSLRNLKPHPAVNLRTGKAEFTRHPEKENERDIAVFPELSQSPETLKQMNSMNSVGTFLDVKRLRQLPKLF" } } ], "pathway": [], "function": [], "orthologs": [ { "uniprot_canonical_ac": "Q15468-1", "protein_name": "SCL-interrupting locus protein", "sequence": { "length": 1287, "sequence": "MEPIYPFARPQMNTRFPSSRMVPFHFPPSKCALWNPTPTGDFIYLHLSYYRNPKLVVTEKTIRLAYRHAKQNKKNSSCFLLGSLTADEDEEGVTLTVDRFDPGREVPECLEITPTASLPGDFLIPCKVHTQELCSREMIVHSVDDFSSALKALQCHICSKDSLDCGKLLSLRVHITSRESLDSVEFDLHWAAVTLANNFKCTPVKPIPIIPTALARNLSSNLNISQVQGTYKYGYLTMDETRKLLLLLESDPKVYSLPLVGIWLSGITHIYSPQVWACCLRYIFNSSVQERVFSESGNFIIVLYSMTHKEPEFYECFPCDGKIPDFRFQLLTSKETLHLFKNVEPPDKNPIRCELSAESQNAETEFFSKASKNFSIKRSSQKLSSGKMPIHDHDSGVEDEDFSPRPIPSPHPVSQKISKIQPSVPELSLVLDGNFIESNPLPTPLEMVNNENPPLINHLEHLKPLQPQLYDEKHSPEVEAGEPSLRGIPNQLNQDKPALLRHCKVRQPPAYKKGNPHTRNSIKPSSHNGPSHDIFEKLQTVSAGNVQNEEYPIRPSTLNSRQSSLAPQSQPHDFVFSPHNSGRPMELQIPTPPLPSYCSTNVCRCCQHHSHIQYSPLNSWQGANTVGSIQDVQSEALQKHSLFHPSGCPALYCNAFCSSSSPIALRPQGDMGSCSPHSNIEPSPVARPPSHMDLCNPQPCTVCMHTPKTESDNGMMGLSPDAYRFLTEQDRQLRLLQAQIQRLLEAQSLMPCSPKTTAVEDTVQAGRQMELVSVEAQSSPGLHMRKGVSIAVSTGASLFWNAAGEDQEPDSQMKQDDTKISSEDMNFSVDINNEVTSLPGSASSLKAVDIPSFEESNIAVEEEFNQPLSVSNSSLVVRKEPDVPVFFPSGQLAESVSMCLQTGPTGGASNNSETSEEPKIEHVMQPLLHQPSDNQKIYQDLLGQVNHLLNSSSKETEQPSTKAVIISHECTRTQNVYHTKKKTHHSRLVDKDCVLNATLKQLRSLGVKIDSPTKVKKNAHNVDHASVLACISPEAVISGLNCMSFANVGMSGLSPNGVDLSMEANAIALKYLNENQLSQLSVTRSNQNNCDPFSLLHINTDRSTVGLSLISPNNMSFATKKYMKRYGLLQSSDNSEDEEEPPDNADSKSEYLLNQNLRSIPEQLGGQKEPSKNDHEIINCSNCESVGTNADTPVLRNITNEVLQTKAKQQLTEKPAFLVKNLKPSPAVNLRTGKAEFTQHPEKENEGDITIFPESLQPSETLKQMNSMNSVGTFLDVKRLRQLPKLF" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/2283", "id": "2283", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "STIL", "tax_id": 9606 }, { "uniprot_canonical_ac": "Q60988-1", "protein_name": "SCL-interrupting locus protein homolog", "sequence": { "length": 1262, "sequence": "MNTRFPSSKMVPFHFPPSKLALWNPMPIGECIYLHLSYYRKPKLMVTEKAIRLAYRHAKQNKKNVPCFLLGSLTVDEDEEGVTLTIDRFDPGREIPECLERTPTASLPGDFLIPCRVHIQGLGSRDVIVHNADDFSSALKALQYHVCSKDFLDCGKLLCLRAQITPRESLDGVDFNLQWTAVTLANSFKCVPVKPIPIIPTALARNLSSNLNISQVQGTYKHGYITMDETRKLLLLLQSDPKVSSLPLVGIWLAGIIHVYSPQVWACCLRYMFSSSIQERVFSESGNFIIVLYSLTHKEPEFYECLPCESRTPDLQFQLLTNKETLHLFNNVEPSGKNPIHFELSAESQDAEAEAEVLSKISKTLPVKRSSQKVSPGKIPINKHDTDLEDEDFSPRPIPSPHPVSQKISKVQPSVPELSLVLDNNFTESSNQSNPLEMMTVENPLLIKPSQPELCDAKHSSEATTGEPFRRGPTNQLSQDTALRQSRGKQSSTCKKESLQFRNTNAKPSLSVPSPDVAEKLQAVSAGSMQKEDYPVRPSTLDSRQPSLAPQAQPHNLVFSTHNSTRPMELQVPTPSLPSYYPTNVCSCCQHHGHIQYSTINSWQGNTVGSIQDLRSESLPKHAFFHSSGCPSLCPNAIYSSSSPVSMKQGGMGAYSPHSNGEPSPVAGPSHVDSCVPHPCAMCMHTPNTAPDNGMMGLSPDAYRFVTEQDRQLRLLQAQIQRLLEAQSLDPGSHKTVATMEDTVKAARQMELVSMEAQSSPGLHMRKSVSIAVSTGASLFWNAAGDDQEPDSQPKQDDTKISSEDMNFSVDINNEATSLPGSASSLKAVDIPSFEESNLAVEEVNQPLPESNSSSEQSKEPGVPVFFPNALLAESVSMCLQTAPTEGASNSTELPQGTKDEPYRPSDNQKIYQDLLGQVNHLLSNASQETEEPPTKAVVTNHECAKTQNTHHARKKRHNSGLVDKDCVLSATIKQLRSLGVKIDSPTKVKKNEQKVDHASVLACISPEAVISGLNYMSFGNVGMSSLSPTGVDLSMEANAIALKYLSENQLSQLSLARSKQNNGDSSVGLLHINSDRSTVGLSLVSPSNMSFATKKYMKRYGLLQSSDNSEDEEEPPSHADSESDHVLNRNPACRPVQCGHEKEPSWNACEIAQCSDCGSADTRTDVPVLRNITNQAVQPRATEHLNEDSAISLRNLKPNPAMNLRTGKAEFTHHPEKENERDIAVFPGTLPSPETLKQMNSMDSVGTFLDVKRLRQLPKLF" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/2283", "id": "2283", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Stil", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_017449284.1", "ac": "XP_017449284.1", "name": "SCL-interrupting locus protein isoform X1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "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:0005737", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "centrosome", "id": "GO:0005813" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "centriole", "id": "GO:0005814" } ], "total": 3, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000578", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "embryonic axis specification", "id": "GO:0000578" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "in utero embryonic development", "id": "GO:0001701" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "forebrain development", "id": "GO:0030900" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "multicellular organism growth", "id": "GO:0035264" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "neural tube closure", "id": "GO:0001843" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "neural tube development", "id": "GO:0021915" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "determination of left/right symmetry", "id": "GO:0007368" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "heart looping", "id": "GO:0001947" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "smoothened signaling pathway", "id": "GO:0007224" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051298", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "centrosome duplication", "id": "GO:0051298" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033504", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "floor plate development", "id": "GO:0033504" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046599", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "regulation of centriole replication", "id": "GO:0046599" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030903", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "notochord development", "id": "GO:0030903" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "mitotic spindle organization", "id": "GO:0007052" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071539", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "protein localization to centrosome", "id": "GO:0071539" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "negative regulation of apoptotic process", "id": "GO:0043066" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "non-motile cilium assembly", "id": "GO:1905515" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045737", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "name": "positive regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045737" } ], "total": 18, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2KB96", "type": "synonym", "resource": "RefSeq", "name": "Stil" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "type": "recommended", "resource": "UniProtKB", "name": "Stil" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000057760", "id": "ENSRNOG00000057760", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/313506", "id": "313506", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR026123", "id": "IPR026123", "database": "InterPro" }, { "url": "https://omabrowser.org/oma/group/QHHGHIQ/", "id": "QHHGHIQ", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=342602at2759", "id": "342602at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15128", "id": "PTHR15128", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF15253", "id": "PF15253", "database": "Pfam" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_017449284.1", "id": "XP_017449284.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1304972", "id": "1304972", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "id": "A0A0G2KB96", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0012989", "url": "https://monarchinitiative.org/disease/MONDO:0012989", "resource": "MONDO", "name": "microcephaly 7, primary, autosomal recessive", "description": "" }, { "id": "MONDO:0012989", "url": "https://monarchinitiative.org/disease/MONDO:0012989", "resource": "MONDO", "name": "microcephaly 7, primary, autosomal recessive; MCPH7", "description": "" }, { "id": "MONDO:0012989", "url": "https://monarchinitiative.org/disease/MONDO:0012989", "resource": "MONDO", "name": "autosomal recessive primary microcephaly caused by mutation in STIL", "description": "" }, { "id": "MONDO:0012989", "url": "https://monarchinitiative.org/disease/MONDO:0012989", "resource": "MONDO", "name": "STIL autosomal recessive primary microcephaly", "description": "" }, { "id": "MONDO:0012989", "url": "https://monarchinitiative.org/disease/MONDO:0012989", "resource": "MONDO", "name": "MCPH7", "description": "" }, { "id": "DOID:0070278", "url": "http://disease-ontology.org/term/DOID:0070278", "resource": "Disease Ontology", "name": "MCPH7", "description": "" } ], "recommended_name": { "id": "DOID:0070278", "url": "http://disease-ontology.org/term/DOID:0070278", "resource": "Disease Ontology", "name": "primary autosomal recessive microcephaly 7", "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0070278#disease-associations", "id": "0070278", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:10907", "url": "http://disease-ontology.org/term/DOID:10907", "resource": "Disease Ontology", "name": "Microcephalus", "description": "" }, { "id": "DOID:10907", "url": "http://disease-ontology.org/term/DOID:10907", "resource": "Disease Ontology", "name": "microencephaly", "description": "" } ], "recommended_name": { "id": "DOID:10907", "url": "http://disease-ontology.org/term/DOID:10907", "resource": "Disease Ontology", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/10907#disease-associations", "id": "10907", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 113330.0, "chemical_mass": 113330.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96", "name": "Stil", "locus": { "end_pos": 133851416, "strand": "+", "start_pos": 133819726, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000057760", "id": "ENSRNOG00000057760", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2KB96", "type": "synonym", "resource": "RefSeq", "name": "SCL-interrupting locus protein isoform X1" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2KB96#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "STIL, centriolar assembly protein" } ] }