{ "uniprot_canonical_ac": "Q5DU05-1", "uniprot_ac": "Q5DU05", "uniprot_id": "CE164_MOUSE", "mass": { "chemical_mass": 162601.0, "monoisotopic_mass": 162601.0 }, "refseq": { "ac": "XP_006510196", "name": "centrosomal protein of 164 kDa isoform X1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006510196" }, "gene_names": [ { "name": "Cep164", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q5DU05", "id": "Q5DU05" }, { "name": "Cep164", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074842", "id": "NP_001074842" }, { "name": "D030051D21", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074842", "id": "NP_001074842" }, { "name": "Kiaa1052", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q5DU05", "id": "Q5DU05" } ], "protein_names": [ { "name": "Centrosomal protein of 164 kDa", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q5DU05" }, { "name": "Cep164", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q5DU05" }, { "name": "centrosomal protein of 164 kDa isoform X1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006510196", "id": "XP_006510196" }, { "name": "centrosomal protein of 164 kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074842", "id": "NP_001074842" } ], "function": [ { "annotation": "CEP164 is essential for efferent duct multiciliogenesis and male fertility. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001074842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074842" }, { "database": "PubMed", "id": "34085951", "url": "https://glygen.org/publication/PubMed/34085951" } ] }, { "annotation": "Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05#function" }, { "database": "PubMed", "id": "22863007", "url": "https://glygen.org/publication/PubMed/22863007" } ] } ], "disease": [ { "disease_id": "DOID:0111123", "recommended_name": { "id": "DOID:0111123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111123", "name": "nephronophthisis 15", "description": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q." }, "synonyms": [ { "id": "DOID:0111123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111123", "name": "NPHP15", "description": "" }, { "id": "MONDO:0013917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013917", "name": "nephronophthisis 15", "description": "Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene." }, { "id": "MONDO:0013917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013917", "name": "CEP164 nephronophthisis (disease)", "description": "" }, { "id": "MONDO:0013917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013917", "name": "NPHP15", "description": "" }, { "id": "MONDO:0013917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013917", "name": "nephronophthisis (disease) caused by mutation in CEP164", "description": "" }, { "id": "MONDO:0013917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013917", "name": "nephronophthisis 15", "description": "" }, { "id": "MONDO:0013917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013917", "name": "nephronophthisis type 15", "description": "" }, { "id": "MIM:614845", "resource": "MIM", "url": "https://www.omim.org/entry/614845", "name": "Nephronophthisis 15", "description": "Nephronophthisis 15" } ], "evidence": [ { "id": "0111123", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111123" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": 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"https://www.uniprot.org/uniprot/A0A1L1SUF9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1L1SUF9-1", "url": "https://www.uniprot.org/uniprot/A0A1L1SUF9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3YVU3", "url": "https://www.uniprot.org/uniprot/D3YVU3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3YVU3-1", "url": "https://www.uniprot.org/uniprot/D3YVU3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F7AUV3", "url": "https://www.uniprot.org/uniprot/F7AUV3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F7AUV3-1", "url": "https://www.uniprot.org/uniprot/F7AUV3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5DU05-1", "url": "https://www.uniprot.org/uniprot/Q5DU05-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5DU05-2", "url": "https://www.uniprot.org/uniprot/Q5DU05-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5DU05-3", "url": "https://www.uniprot.org/uniprot/Q5DU05-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARRPILLGDQLVLEEDSDETYVPSEQEILDFARVIGIDPIKEPELMWLAREGIEAPLPKGWKPCQNITGDLYYFNFDTGQSIWDHPCDEHYRKLVIQERERWSAPGAIKKKDKKKKKEKKNKKDKETSKSPLVLGSPLALVQAPLWGLAPLRGLGDAPPSALRGSQSVSLGSSADSGHLGEPTLPPQGLKAAACAKGLLASVHEGKNALSLLTLGEETNEEDEEESDNQSVRSSSELLKNLHLDLGALGGNFEYEESPRTSQPDKKDVSLDSDADRPPTPGKLFSQGADSSVASANGSKSQGRGASPWNPQKENENSDPKASSSQMAPELDPGGDQPSRASKKQQAEDPVQAGKEGECRRESAAKEPKEASALENTSDVSEESEIHGHLKDARHSGSEASGPKSFLGLDLGFRSRISEHLLDGDTLSPVLGGGHWEAQGLDQEEQDDSKSSIAEPQSKHTQGSEREHLQSSLHSQATEEGPLQTLEGQPEWKEAEGPGKDSVASPAPLSLLQREQVLSPPASPERAEEKHSQAEELGLEQPEAEETEEKVAVCPSSPVSPEVQTAEPAAPQKLFSEAILKGMELEEDQRLLLEFQKEKPQQLEERLWEEEEEEVCQLYQQKEKSLSLLKAQLQKATAEEKEKEEETKIREEESRRLVCLRAQVQSRTEAFENQIRTEQQAALQRLREEAETLQKAERASLEQKSRRALEQLREQLEAEERSAQAALRAEKEAEKEAALLQLREQLEGERKEAVAGLEKKHSAELEQLCSSLEAKHQEVISSLQKKIEGAQQKEEAQLQESLGWAEQRAHQKVHQVTEYEQELSSLLRDKRQEVEREHERKMDKMKEEHWQEMADARERYEAEERKQRADLLGHLTGELERLRRAHERELESMRQEQDQQLEDLRRRHRDHERKLQDLEVELSSRTKDVKARLAQLNVQEENIRKEKQLLLDAQRQAALEREEATATHQHLEEAKKEHTHLLETKQQLRRTIDDLRVRRVELESQVDLLQAQSQRLQKHLSSLEAEVQRKQDVLKEMAAEMNASPHPEPGLHIEDLRKSLDTNKNQEVSSSLSLSKEEIDLSMESVRQFLSAEGVAVRNAKEFLVRQTRSMRRRQTALKAAQQHWRHELASAQEVDEDLPGTEVLGNMRKNLNEETRHLDEMKSAMRKGHDLLKKKEEKLIQLESSLQEEVSDEDTLKGSSIKKVTFDLSDMDDLSSESLESSPVLHITPTPTSADPNKIHYLSSSLQRISSELNGVLNVLGSLNSQPPPQGLGSQPPPPLFTSSLRSSKNVLDPAYSSQAKLSSLSSITPMSTQWAWDPGQGTKLTSSSSSQTVDDFLLEKWRKYFPSGIPLLSGSPPPPENKLGYVSVSEQLHFLQRSHPRVPRTDGVSIQSLIDSNRKWLEHFRNDPKVQLFSSAPKATTTSNLSNLLQLGLDENNRLNVFHY", "length": 1446, "header": "sp|Q5DU05-1|CE164_MOUSE Isoform 1 of Centrosomal protein of 164 kDa OS=Mus musculus OX=10090 GN=Cep164 PE=1 SV=2 CANONICAL=Q5DU05-1" }, "isoforms": [ { "isoform_ac": "A0A1L1SR80-1", "url": "", "sequence": { "sequence": "HRKKTRIVIPRLLQVRWLPSWTPGVISLPGPLKSSRQRTQCRQERRESAGGRVQPRSQRRLLPWRTPQMSVRSQRSTDT", "length": 79, "header": "tr|A0A1L1SR80-1|CE164_MOUSE Computationally mapped isoform of Centrosomal protein of 164 kDa OS=Mus musculus OX=10090 GN=Cep164 PE=1 SV=1 CANONICAL=Q5DU05-1" }, "locus": { "chromosome": "9", "start_pos": 45705564, "end_pos": 45704289, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000217554.2", "url": "https://www.ensembl.org/id/ENSMUST00000217554.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000149347.2", "url": "https://www.ensembl.org/id/ENSMUSP00000149347.2" } ] } }, { "isoform_ac": "A0A1L1SSA4-1", "url": "", "sequence": { "sequence": "MARRPILLGDQLVLEEDSDETYVPSEQEILDFARVIGIDPIKEPELMWLAREGIEAPLPKGWKPCQNITGDLYYFNFDTGQSIWDHPCDEHYRKLVIQERERWSAPGAIKKKDKKKKKEKKNKKDKETSKSPLEPQPEQGLLPSSSFLRGLSPLSAPGLADLDPDQQVQARNEAFKKGRSLCTLGDTPWPLTGALPAKLQPLSKGQASRTHQVFADVEKILGRPSIQCKTELGDLQGLESAPKATEKIYLGFSDPEIEKMELRARQQRLGAGGAQSPDPLHSGQDVSESRSQPPVHSKLSEAPKGLQLKGEQPNHSIATMNCTGPGGDKGQNTAPLPPSEEEPSLSLGSSDHALPARRNKLFLLESGPAEDLSWQGVPGEGGDVGRERWRRESPGLWMGQVSKLINKDTPERCKETEPAAPKDAEASAEDSPQGPSPMPPETLASEPVPKPPLGDPANEDRQHPPGSLEPLNEDGKPSTPGTDSDNSSGGGSSLASPLGSQVLGEINNFPWDLQNPQGSVPVMGPLGPGPRDVRFCPFLVPQLSHISSVEEQSESEDYSEDQRFYQHILQMVKISRQLEGLGLPENMQEMPCKDVAGMVCSMANEPSRMSNKGDHKATRAPERDSGLLAWGPELLEHPLGAVSAPAGQEATQQAQCQPSGLRQGPVQPSPDTGLGAEPSKMQLLSQVLGSPLALVQAPLWGLAPLRGLGDAPPSALRGSQSVSLGSSADSGHLGEPTLPPQGLKAAACAKGLLASVHEGKNALSLLTLGEETNEEDEEESDNQSVRSSSELLKNLHLDLGALGGNFEYEESPRTSQPDKKDVSLDSDADRPPTPGKLFSQGADSSVASANGSKSQGRGASPWNPQKENENSDPKASSSQMAPELDPGGDQPSRASKKQQAEDPVQAGKEGECRRESAAKEPKEASALENTSDVSEESEIHGHLKDARHSGSEASGPKSFLGLDLGFRSRISEHLLDGDTLSPVLGGGHWEAQGLDQEEQDDSKSSIAEPQSKHTQGSEREHLQSSLHSQATEEGPLQTLEGQPEWKEAEGPGKDSVASPAPLSLLQREQVLSPPASPERAEEKHSQAEELGLEQPEAEETEEKVAVCPSSPVSPEVQTAEPAAPQKLFSEAILKGMELEEDQRLLLEFQKEKPQQLEERLWREEEEKEEGEEEEKEDEEEEGEEEEEEEEKEEEEEEEEEEEVCQLYQQKEKSLSLLKAQLQKATAEEKEKEEETKIREEESRRLVCLRAQVQSRTEAFENQIRTEQQAALQRLREEAETLQKAERASLEQKSRRALEQLREQLEAEERSAQAALRAEKEAEKEAALLQLREQLEGERKEAVAGLEKKHSAELEQLCSSLEAKHQEVISSLQKKIEGAQQKEEAQLQESLGWAEQRAHQKVHQVTEYEQELSSLLRDKRQEVEREHERKMDKMKEEHWQEMADARERYEAEERKQRADLLGHLTGELERLRRAHERELESMRQEQDQQLEDLRRRHRDHERKLQDLEVELSSRTKDVKARLAQLNVQEENIRKEKQLLLDAQRQAALEREEATATHQHLEEAKKEHTHLLETKQQLRRTIDDLRVRRVELESQVDLLQAQSQRLQKHLSSLEAEVQRKQDVLKEMAAEMNASPHPEPGLHIEDLRKSLDTNKNQEVSSSLSLSKEEIDLSMESVRQFLSAEGVAVRNAKEFLVRQTRSMRRRQTALKAAQQHWRHELASAQEVDEDLPGTEVLGNMRKNLNEETRHLDEMKSAMRKGHDLLKKKEEKLIQLESSLQEEVSDEDTLKGSSIKKVTFDLSDMDDLSSESLESSPVLHITPTPTSADPNKIHYLSSSLQRISSELNGVLNVLGSLNSQPPPQGLGSQPPPPLFTSSLRSSKNVLDPAYSSQAKLSSLSSITPMSTQWAWDPGQGTKLTSSSSSQTVDDFLLEKWRKYFPSGIPLLSGSPPPPENKLGYVSVSEQLHFLQRSHPRVPRTDGVSIQSLIDSNRKWLEHFRNDPKVQLFSSAPKATTTSNLSNLLQLGLDENNRLNVFHY", "length": 2034, "header": "tr|A0A1L1SSA4-1|A0A1L1SSA4_MOUSE Computationally mapped isoform of Centrosomal protein 164 OS=Mus musculus OX=10090 GN=Cep164 PE=1 SV=1 CANONICAL=Q5DU05-1" }, "locus": { "chromosome": "9", "start_pos": 45735025, "end_pos": 45679559, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000213154.2", "url": "https://www.ensembl.org/id/ENSMUST00000213154.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000149815.2", "url": "https://www.ensembl.org/id/ENSMUSP00000149815.2" } ] } }, { "isoform_ac": "A0A1L1SSP5-1", "url": "", "sequence": { "sequence": "MARRPILLGDQLVLEEDSDETYVPSEQEILDFAR", "length": 34, "header": "tr|A0A1L1SSP5-1|CE164_MOUSE Computationally mapped isoform of Centrosomal protein of 164 kDa OS=Mus musculus OX=10090 GN=Cep164 PE=1 SV=1 CANONICAL=Q5DU05-1" }, "locus": { "chromosome": "9", "start_pos": 45735025, "end_pos": 45729368, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000214868.2", "url": "https://www.ensembl.org/id/ENSMUST00000214868.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000149980.2", "url": "https://www.ensembl.org/id/ENSMUSP00000149980.2" } ] } }, { "isoform_ac": "A0A1L1SUF9-1", "url": "", "sequence": { "sequence": "APPSALRGSQSVSLGSSADSGHLGEPTLGLKAAACAKGLLASVHEGKNALSLLTLGEETNEEDEEESDNQSVRSSSELLKNLHLDLGALGGNFEYEESPRTSQPDKKDVSLDSDADRPPTPGKLFSQGADSSVASANGSKSQGRGASPWNPQKENENSDPKASSSQMAPELDPGGDQPSRASKKQQAEDPVQAGKEGECRRESAAKEPKEASALENTSDVSEESEIHGHLKDARHSGSEASGPKSFLGLDLGFRSRISEHLLDGDTLSPVLGGGHWEAQGLDQEEQDDSKSSIAEPQSKHTQGSEREHLQSSLHSQATEEGPLQTLEGQPEWKEAEGPGKDSVASPAPLSLLQSLLKAQLQKATAEEKEKEEETKIREEESRRLVCLRAQVQSRTEAFENQIRTEQQAALQRLREEAETLQKAERASLEQKSRRALEQLREQLEAEERSAQAALRAEKEAEKEAALLQLREQLEGERKEAVAGLEKKHSAELEQLCSSLEAKHQEVISSLQKKIEGAQQKEEAQLQESLGWAEQRAHQKVHQVTEYEQELSSLLRDKRQEVEREHERKMDKMKEEHWQEMADARERYEAEERKQRADLLGHLTGELERLRRAHERELESMRQEQDQQLEDLRRRHRDHERKLQDLEVELSSRTKDVKARLAQLNVQEENIRKEKQLLLDAQRQAALEREEATATHQHLEEAKKEHTHLLETKQQLRRTIDDLRVRRVELESQVDLLQAQSQRLQKHLSLEAEVQRKQDVLKEMAAEMNASPHPEPGLHIEDLRKSLDTNKNQEVSSSLSLSKEEIDLSMESVRQFLSAEGVAVRNAKEFLVRQTRSMRRRQTALKAAQQHWRHELASAQEVDEDLPGTEVLGNMRKNLNEETRHLDEMKSAMRKGHDLLKKKEEKLIQLESSLQEEVSDEDTLKGSSIKKVTFDLSDMDDLSSESLESSPVLHITPTPTSADPNKIHYLSSSLQRISSELNGVLNVLGSLNSQPPPQGLGSQPPPPLFTSSLRSSKNVLDPAYSSQAKLSSLSSITPMSTQWAWDPGQGTKLTSSSSSQTVDDFLLEKWRKYFPSGIPLLSGSPPPPENKLGYVSVSEQLHFLQRSHPRVPRTDGVSIQSLIDSNRKWLEHFRNDPKVQLFSSAPKATTTSNLSNLLQLGLDENNRLNVFHY", "length": 1172, "header": "tr|A0A1L1SUF9-1|CE164_MOUSE Computationally mapped isoform of Centrosomal protein of 164 kDa OS=Mus musculus OX=10090 GN=Cep164 PE=1 SV=1 CANONICAL=Q5DU05-1" }, "locus": { "chromosome": "9", "start_pos": 45714554, "end_pos": 45679559, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000216284.2", "url": "https://www.ensembl.org/id/ENSMUST00000216284.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000150742.2", "url": "https://www.ensembl.org/id/ENSMUSP00000150742.2" } ] } }, { "isoform_ac": "D3YVU3-1", "url": "", "sequence": { "sequence": "MARRPILLGDQLVLEEDSDETYVPSEQEILDFARVIGIDPIKEPELMWLAREGIEAPLPKGWKPCQNITGDLYYFNFDTGQSIWDHPCDEHYRKLVIQERERWSAPGAIKKKDKKKKKEKKNKKDKETSKSPLVLGSPLALVQAPLWGLAPLRGLGDAPPSALRGSQSVSLGSSADSGHLGEPTLPPQGLKAAACAKGLLASVHEGKNALSLLTLGEETNEEDEEESDNQSVRSSSELLKNLHLDLGALGGNFEYEESPRTSQPDKKDVSLDSDADRPPTPGKLFSQGADSSVASANGSKSQGRGASPWNPQKENENSDPKASSSQMAPELDPGGDQPSRASKKQQAEDPVQAGKEGECRRESAAKEPKEASALENTSDVSEESEIHGHLKDARHSGSEASGPKSFLGLDLGFRSRISEHLLDGDTLSPVLGGGHWEAQGLDQEEQDDSKSSIAEPQSKHTQGSEREHLQSSLHSQATEEGPLQTLEGQPEWKEAEGPGKDSVASPAPLSLLQSLLKAQLQKATAEEKEKEEETKIREEESRRLVCLRAQVQSRTEAFENQIRTEQQAALQRLREEAETLQKAERASLEQKSRRALEQLREQLEAEERSAQAALRAEKEAEKEAALLQLREQLEGERKEAVAGLEKKHSAELEQLCSSLEAKHQEVISSLQKKIEGAQQKEEAQLQESLGWAEQRAHQKVHQVTEYEQELSSLLRDKRQEVEREHERKMDKMKEEHWQEMADARERYEAEERKQRADLLGHLTGELERLRRAHERELESMRQEQDQQLEDLRRRHRDHERKLQDLEVELSSRTKDVKARLAQLNVQEENIRKEKQLLLDAQRQAALEREEATATHQHLEEAKKEHTHLLETKQQLRRTIDDLRVRRVELESQVDLLQAQSQRLQKHLSSLEAEVQRKQDVLKEMAAEMNASPHPEPGLHIEDLRKSLDTNKNQEVSSSLSLSKEEIDLSMESVRQFLSAEGVAVRNAKEFLVRQTRSMRRRQTALKAAQQHWRHELASAQEVDEDLPGTEVLGNMRKNLNEETRHLDEMKSAMRKGHDLLKKKEEKLIQLESSLQEEVSDEDTLKGSSIKKVTFDLSDMDDLSSESLESSPVLHITPTPTSADPNKIHYLSSSLQRISSELNGVLNVLGSLNSQPPPQGLGSQPPPPLFTSSLRSSKNVLDPAYSSQAKLSSLSSITPMSTQWAWDPGQGTKLTSSSSSQTVDDFLLEKWRKYFPSGIPLLSGSPPPPENKLGYVSVSEQLHFLQRSHPRVPRTDGVSIQSLIDSNRKWLEHFRNDPKVQLFSSAPKATTTSNLSNLLQLGLDENNRLNVFHY", "length": 1333, "header": "tr|D3YVU3-1|CE164_MOUSE Computationally mapped isoform of Centrosomal protein of 164 kDa OS=Mus musculus OX=10090 GN=Cep164 PE=1 SV=1 CANONICAL=Q5DU05-1" }, "locus": { "chromosome": "9", "start_pos": 45735025, "end_pos": 45679559, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000117194.8", "url": "https://www.ensembl.org/id/ENSMUST00000117194.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000114053.2", "url": "https://www.ensembl.org/id/ENSMUSP00000114053.2" } ] } }, { "isoform_ac": "F7AUV3-1", "url": "", "sequence": { "sequence": "XDEEESDNQSVRSSSELLKNLHLDLGALGGNFEYEESPRTSQPDKKDVSLDSDADRPPTPGKLFSQGADSSVASANGSKSQGRGASPWNPQKENENSDPKASSSQMAPELDPGGDQPSRASKKQQAEDPVQAGKEGECRRESAAKEPKEASALENTSDVSEESEIHGHLKDARHSGSEASGPKSFLGLDLGFRSRISEHLLDGDTLSPVLGGGHWEAQGLDQEEQDDSKSSIAEPQSKHTQGSEREHLQSSLHSQATEEGPLQTLEGQPEWKEAEGPGKDSVASPAPLSLLQRQTAEPAAPQKLFSEAILKGMELEEDQRLLLEFQKEKPQQLEERLWREEEEKEEGEEEEKEDEEEEGEEEEEEEEKEEEEEEEEEEEVCQLYQQKEKSLSLLKAQLQKATAEEKEKEEETKIREEESRRLVCLRAQVQSRTEAFENQIRTEQQAALQRLREEAETLQKAERASLEQKSRRALEQLREQLEAEERSAQAALRAEKEAEKEAALLQLREQLEGERKEAVAGLEKKHSAELEQLCSSLEAKHQEVISSLQKKIEGAQQKEEAQLQESLGWAEQRAHQKVHQVTEYEQELSSLLRDKRQEVEREHERKMDKMKEEHWQEMADARERYEA", "length": 627, "header": "tr|F7AUV3-1|CE164_MOUSE Computationally mapped isoform of Centrosomal protein of 164 kDa OS=Mus musculus OX=10090 GN=Cep164 PE=1 SV=1 CANONICAL=Q5DU05-1" }, "locus": { "chromosome": "9", "start_pos": 45713965, "end_pos": 45689708, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000132430.2", "url": "https://www.ensembl.org/id/ENSMUST00000132430.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000117344.2", "url": "https://www.ensembl.org/id/ENSMUSP00000117344.2" } ] } }, { "isoform_ac": "Q5DU05-1", "url": "", "sequence": { "sequence": "MARRPILLGDQLVLEEDSDETYVPSEQEILDFARVIGIDPIKEPELMWLAREGIEAPLPKGWKPCQNITGDLYYFNFDTGQSIWDHPCDEHYRKLVIQERERWSAPGAIKKKDKKKKKEKKNKKDKETSKSPLVLGSPLALVQAPLWGLAPLRGLGDAPPSALRGSQSVSLGSSADSGHLGEPTLPPQGLKAAACAKGLLASVHEGKNALSLLTLGEETNEEDEEESDNQSVRSSSELLKNLHLDLGALGGNFEYEESPRTSQPDKKDVSLDSDADRPPTPGKLFSQGADSSVASANGSKSQGRGASPWNPQKENENSDPKASSSQMAPELDPGGDQPSRASKKQQAEDPVQAGKEGECRRESAAKEPKEASALENTSDVSEESEIHGHLKDARHSGSEASGPKSFLGLDLGFRSRISEHLLDGDTLSPVLGGGHWEAQGLDQEEQDDSKSSIAEPQSKHTQGSEREHLQSSLHSQATEEGPLQTLEGQPEWKEAEGPGKDSVASPAPLSLLQREQVLSPPASPERAEEKHSQAEELGLEQPEAEETEEKVAVCPSSPVSPEVQTAEPAAPQKLFSEAILKGMELEEDQRLLLEFQKEKPQQLEERLWEEEEEEVCQLYQQKEKSLSLLKAQLQKATAEEKEKEEETKIREEESRRLVCLRAQVQSRTEAFENQIRTEQQAALQRLREEAETLQKAERASLEQKSRRALEQLREQLEAEERSAQAALRAEKEAEKEAALLQLREQLEGERKEAVAGLEKKHSAELEQLCSSLEAKHQEVISSLQKKIEGAQQKEEAQLQESLGWAEQRAHQKVHQVTEYEQELSSLLRDKRQEVEREHERKMDKMKEEHWQEMADARERYEAEERKQRADLLGHLTGELERLRRAHERELESMRQEQDQQLEDLRRRHRDHERKLQDLEVELSSRTKDVKARLAQLNVQEENIRKEKQLLLDAQRQAALEREEATATHQHLEEAKKEHTHLLETKQQLRRTIDDLRVRRVELESQVDLLQAQSQRLQKHLSSLEAEVQRKQDVLKEMAAEMNASPHPEPGLHIEDLRKSLDTNKNQEVSSSLSLSKEEIDLSMESVRQFLSAEGVAVRNAKEFLVRQTRSMRRRQTALKAAQQHWRHELASAQEVDEDLPGTEVLGNMRKNLNEETRHLDEMKSAMRKGHDLLKKKEEKLIQLESSLQEEVSDEDTLKGSSIKKVTFDLSDMDDLSSESLESSPVLHITPTPTSADPNKIHYLSSSLQRISSELNGVLNVLGSLNSQPPPQGLGSQPPPPLFTSSLRSSKNVLDPAYSSQAKLSSLSSITPMSTQWAWDPGQGTKLTSSSSSQTVDDFLLEKWRKYFPSGIPLLSGSPPPPENKLGYVSVSEQLHFLQRSHPRVPRTDGVSIQSLIDSNRKWLEHFRNDPKVQLFSSAPKATTTSNLSNLLQLGLDENNRLNVFHY", "length": 1446, "header": "sp|Q5DU05-1|CE164_MOUSE Isoform 1 of Centrosomal protein of 164 kDa OS=Mus musculus OX=10090 GN=Cep164 PE=1 SV=2 CANONICAL=Q5DU05-1" }, "locus": {} }, { "isoform_ac": "Q5DU05-2", "url": "", "sequence": { "sequence": "MARRPILLGDQLVLEEDSDETYVPSEQEILDFARVIGIDPIKEPELMWLAREGIEAPLPKGWKPCQNITGDLYYFNFDTGQSIWDHPCDEHYRKLVIQERERWSAPGAIKKKDKKKKKEKKNKKDKETSKSPLVLGSPLALVQAPLWGLAPLRGLGDAPPSALRGSQSVSLGSSADSGHLGEPTLGLKAAACAKGLLASVHEGKNALSLLTLGEETNEEDEEESDNQSVRSSSELLKNLHLDLGALGGNFEYEESPRTSQPDKKDVSLDSDADRPPTPGKLFSQGADSSVASANGSKSQGRGASPWNPQKENENSDPKASSSQMAPELDPGGDQPSRASKKQQAEDPVQAGKEGECRRESAAKEPKEASALENTSDVSEESEIHGHLKDARHSGSEASGPKSFLGLDLGFRSRISEHLLDGDTLSPVLGGGHWEAQGLDQEEQDDSKSSIAEPQSKHTQGSEREHLQSSLHSQATEEGPLQTLEGQPEWKEAEGPGKDSVASPAPLSLLQSLLKAQLQKATAEEKEKEEETKIREEESRRLVCLRAQVQSRTEAFENQIRTEQQAALQRLREEAETLQKAERASLEQKSRRALEQLREQLEAEERSAQAALRAEKEAEKEAALLQLREQLEGERKEAVAGLEKKHSAELEQLCSSLEAKHQEVISSLQKKIEGAQQKEEAQLQESLGWAEQRAHQKVHQVTEYEQELSSLLRDKRQEVEREHERKMDKMKEEHWQEMADARERYEAEERKQRADLLGHLTGELERLRRAHERELESMRQEQDQQLEDLRRRHRDHERKLQDLEVELSSRTKDVKARLAQLNVQEENIRKEKQLLLDAQRQAALEREEATATHQHLEEAKKEHTHLLETKQQLRRTIDDLRVRRVELESQVDLLQAQSQRLQKHLSSLEAEVQRKQDVLKEMAAEMNASPHPEPGLHIEDLRKSLDTNKNQEVSSSLSLSKEEIDLSMESVRQFLSAEGVAVRNAKEFLVRQTRSMRRRQTALKAAQQHWRHELASAQEVDEDLPGTEVLGNMRKNLNEETRHLDEMKSAMRKGHDLLKKKEEKLIQLESSLQEEVSDEDTLKGSSIKKVTFDLSDMDDLSSESLESSPVLHITPTPTSADPNKIHYLSSSLQRISSELNGVLNVLGSLNSQPPPQGLGSQPPPPLFTSSLRSSKNVLDPAYSSQAKLSSLSSITPMSTQWAWDPGQGTKLTSSSSSQTVDDFLLEKWRKYFPSGIPLLSGSPPPPENKLGYVSVSEQLHFLQRSHPRVPRTDGVSIQSLIDSNRKWLEHFRNDPKVQLFSSAPKATTTSNLSNLLQLGLDENNRLNVFHY", "length": 1330, "header": "sp|Q5DU05-2|CE164_MOUSE Isoform 2 of Centrosomal protein of 164 kDa OS=Mus musculus OX=10090 GN=Cep164 PE=1 SV=2 CANONICAL=Q5DU05-1" }, "locus": {} }, { "isoform_ac": "Q5DU05-3", "url": "", "sequence": { "sequence": "MARRPILLGDQLVLEEDSDETYVPSEQEILDFARVIGIDPIKEPELMWLAREGIEAPLPKGWKPCQNITGDLYYFNFDTGQSIWDHPCDEHYRKLVIQERERWSAPGAIKKKDKKKKKEKKNKKDKETSKSPLVLGSPLALVQAPLWGLAPLRGLGDAPPSALRGSQSVSLGSSADSGHLGEPTLPPQGLKAAACAKGLLASVHEGKNALSLLTLGEETNEEDEEESDNQSVRSSSELLKNLHLDLGALGGNFEYEESPRTSQPDKKDVSLDSDADRPPTPGKLFSQGADSSVASANGSKSQGRGASPWNPQKENENSDPKASSSQMAPELDPGGDQPSRASKKQQAEDPVQAGKEGECRRESAAKEPKEASALENTSDVSEESEIHGHLKDARHSGSEASGPKSFLGLDLGFRSRISEHLLDGDTLSPVLGGGHWEAQGLDQEEQDDSKSSIAEPQSKHTQGSEREHLQSSLHSQATEEGPLQTLEGQPEWKEAEGPGKDSVASPAPLSLLQRQTAEPAAPQKLFSEAILKGMELEEDQRLLLEFQKEKPQQLEDEEEEGEEEEEEEEKEEEEEEEEEEEVCQLYQQKEKSLSLLKAQLQKATAEEKEKEEETKIREEESRRLVCLRAQVQSRTEAFENQIRTEQQAALQRLREEAETLQKAERASLEQKSRRALEQLREQLEAEERSAQAALRAEKEAEKEAALLQLREQLEGERKEAVAGLEKKHSAELEQLCSSLEAKHQEVISSLQKKIEGAQQKEEAQLQESLGWAEQRAHQKVHQVTEYEQELSSLLRDKRQEVEREHERKMDKMKEEHWQEMADARERYEAEERKQRADLLGHLTGELERLRRAHERELESMRQEQDQQLEDLRRRHRDHERKLQDLEVELSSRTKDVKARLAQLNVQEENIRKEKQLLLDAQRQAALEREEATATHQHLEEAKKEHTHLLETKQQLRRTIDDLRVRRVELESQVDLLQAQSQRLQKHLSSLEAEVQRKQDVLKEMAAEMNASPHPEPGLHIEDLRKSLDTNKNQEVSSSLSLSKEEIDLSMESVRQFLSAEGVAVRNAKEFLVRQTRSMRRRQTALKAAQQHWRHELASAQEVDEDLPGTEVLGNMRKNLNEETRHLDEMKSAMRKGHDLLKKKEEKLIQLESSLQEEVSDEDTLKGSSIKKVTFDLSDMDDLSSESLESSPVLHITPTPTSADPNKIHYLSSSLQRISSELNGVLNVLGSLNSQPPPQGLGSQPPPPLFTSSLRSSKNVLDPAYSSQAKLSSLSSITPMSTQWAWDPGQGTKLTSSSSSQTVDDFLLEKWRKYFPSGIPLLSGSPPPPENKLGYVSVSEQLHFLQRSHPRVPRTDGVSIQSLIDSNRKWLEHFRNDPKVQLFSSAPKATTTSNLSNLLQLGLDENNRLNVFHY", "length": 1413, "header": "sp|Q5DU05-3|CE164_MOUSE Isoform 3 of Centrosomal protein of 164 kDa OS=Mus musculus OX=10090 GN=Cep164 PE=1 SV=2 CANONICAL=Q5DU05-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 1369, "end_pos": 1369, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "site_lbl": "Ser1369" }, { "start_pos": 1371, "end_pos": 1371, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "site_lbl": "Ser1371" }, { "start_pos": 202, "end_pos": 202, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "site_lbl": "Ser202" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.", "journal": "Cell", "date": "2012", "authors": "Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "reference": [ { "type": "PubMed", "id": "22863007", "url": "https://glygen.org/publication/PubMed/22863007" } ] }, { "title": "Centrosomal protein DZIP1 regulates Hedgehog signaling by promoting cytoplasmic retention of transcription factor GLI3 and affecting ciliogenesis.", "journal": "J. Biol. Chem.", "date": "2013", "authors": "Wang C, Low WC, Liu A, Wang B", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "reference": [ { "type": "PubMed", "id": "23955340", "url": "https://glygen.org/publication/PubMed/23955340" } ] }, { "title": "MDM1 is a microtubule-binding protein that negatively regulates centriole duplication.", "journal": "Mol. Biol. Cell", "date": "2015", "authors": "Van de Mark D, Kong D, Loncarek J, Stearns T", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "reference": [ { "type": "PubMed", "id": "26337392", "url": "https://glygen.org/publication/PubMed/26337392" } ] }, { "title": "CEP164 is essential for efferent duct multiciliogenesis and male fertility.", "journal": "Reproduction (Cambridge, England)", "date": "2021", "authors": "Hoque M, Chen D, Hess RA, Li FQ, Takemaru KI", "evidence": [ { "database": "RefSeq", "id": "NP_001074842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074842" } ], "reference": [ { "type": "PubMed", "id": "34085951", "url": "https://glygen.org/publication/PubMed/34085951" } ] } ], "pathway": [ { "id": "mmu:214552", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:214552", "resource": "KEGG Pathway" }, { "id": "R-MMU-2565942", "name": "Regulation of PLK1 Activity at G2/M Transition", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-2565942", "resource": "Reactome", "description": "Regulation of PLK1 Activity at G2/M Transition" }, { "id": "R-MMU-380259", "name": "Loss of Nlp from mitotic centrosomes", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-380259", "resource": "Reactome", "description": "Loss of Nlp from mitotic centrosomes" }, { "id": "R-MMU-380270", "name": "Recruitment of mitotic centrosome proteins and complexes", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-380270", "resource": "Reactome", "description": "Recruitment of mitotic centrosome proteins and complexes" }, { "id": "R-MMU-380284", "name": "Loss of proteins required for interphase microtubule organization from the centrosome", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-380284", "resource": "Reactome", "description": "Loss of proteins required for interphase microtubule organization from the centrosome" }, { "id": "R-MMU-380320", "name": "Recruitment of NuMA to mitotic centrosomes", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-380320", "resource": "Reactome", "description": "Recruitment of NuMA to mitotic centrosomes" }, { "id": "R-MMU-5620912", "name": "Anchoring of the basal body to the plasma membrane", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5620912", "resource": "Reactome", "description": "Anchoring of the basal body to the plasma membrane" }, { "id": "R-MMU-8854518", "name": "AURKA Activation by TPX2", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8854518", "resource": "Reactome", "description": "AURKA Activation by TPX2" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9UPV0-1", "protein_name": "Centrosomal protein of 164 kDa", "gene_name": "CEP164", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAGRPLRIGDQLVLEEDYDETYIPSEQEILEFAREIGIDPIKEPELMWLAREGIVAPLPGEWKPCQDITGDIYYFNFANGQSMWDHPCDEHYRSLVIQERAKLSTSGAIKKKKKKKEKKDKKDRDPPKSSLALGSSLAPVHVPLGGLAPLRGLVDTPPSALRGSQSVSLGSSVESGRQLGELMLPSQGLKTSAYTKGLLGSIYEDKTALSLLGLGEETNEEDEEESDNQSVHSSSEPLRNLHLDIGALGGDFEYEESLRTSQPEEKKDVSLDSDAAGPPTPCKPSSPGADSSLSSAVGKGRQGSGARPGLPEKEENEKSEPKICRNLVTPKADPTGSEPAKASEKEAPEDTVDAGEEGSRREEAAKEPKKKASALEEGSSDASQELEISEHMKEPQLSDSIASDPKSFHGLDFGFRSRISEHLLDVDVLSPVLGGACRQAQQPLGIEDKDDSQSSQDELQSKQSKGLEERLSPPLPHEERAQSPPRSLATEEEPPQGPEGQPEWKEAEELGEDSAASLSLQLSLQREQAPSPPAACEKGKEQHSQAEELGPGQEEAEDPEEKVAVSPTPPVSPEVRSTEPVAPPEQLSEAALKAMEEAVAQVLEQDQRHLLESKQEKMQQLREKLCQEEEEEILRLHQQKEQSLSSLRERLQKAIEEEEARMREEESQRLSWLRAQVQSSTQADEDQIRAEQEASLQKLREELESQQKAERASLEQKNRQMLEQLKEEIEASEKSEQAALNAAKEKALQQLREQLEGERKEAVATLEKEHSAELERLCSSLEAKHREVVSSLQKKIQEAQQKEEAQLQKCLGQVEHRVHQKSYHVAGYEHELSSLLREKRQEVEGEHERRLDKMKEEHQQVMAKAREQYEAEERKQRAELLGHLTGELERLQRAHERELETVRQEQHKRLEDLRRRHREQERKLQDLELDLETRAKDVKARLALLEVQEETARREKQQLLDVQRQVALKSEEATATHQQLEEAQKEHTHLLQSNQQLREILDELQARKLKLESQVDLLQAQSQQLQKHFSSLEAEAQKKQHLLREVTVEENNASPHFEPDLHIEDLRKSLGTNQTKEVSSSLSQSKEDLYLDSLSSHNVWHLLSAEGVALRSAKEFLVQQTRSMRRRQTALKAAQQHWRHELASAQEVAKDPPGIKALEDMRKNLEKETRHLDEMKSAMRKGHNLLKKKEEKLNQLESSLWEEASDEGTLGGSPTKKAVTFDLSDMDSLSSESSESFSPPHREWWRQQRIDSTPSLTSRKIHGLSHSLRQISSQLSSVLSILDSLNPQSPPPLLASMPAQLPPRDPKSTPTPTYYGSLARFSALSSATPTSTQWAWDSGQGPRLPSSVAQTVDDFLLEKWRKYFPSGIPLLSNSPTPLESRLGYMSASEQLRLLQHSHSQVPEAGSTTFQGIIEANRRWLERVKNDPRLPLFSSTPKPKATLSLLQLGLDEHNRVKVYRF", "length": 1460 }, "evidence": [ { "id": "45234992", "url": "http://www.informatics.jax.org/homology/45234992", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" }, { "name": "ciliary transition fiber", "id": "GO:0097539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097539", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" }, { "name": "9+2 motile cilium", "id": "GO:0097729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097729", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" }, { "name": "cell cycle", "id": "GO:0007049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007049", "evidence": [ { "database": "UniProtKB", "id": "Q5DU05", "url": "https://www.uniprot.org/uniprot/Q5DU05" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1042, "end_pos": 1044, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1426, "end_pos": 1428, "annotation": "n_glycosylation_sequon" }, { "start_pos": 229, "end_pos": 231, "annotation": "n_glycosylation_sequon" }, { "start_pos": 297, "end_pos": 299, "annotation": "n_glycosylation_sequon" }, { "start_pos": 376, "end_pos": 378, "annotation": "n_glycosylation_sequon" }, { "start_pos": 67, "end_pos": 69, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], 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"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": 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_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": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }