{ "uniprot_canonical_ac": "A0A0G2JEB6-1", "uniprot_ac": "A0A0G2JEB6", "uniprot_id": "CFA47_MOUSE", "mass": { "chemical_mass": 360346.0, "monoisotopic_mass": 360346.0 }, "refseq": {}, "gene_names": [ { "name": "Cfap47", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6", "id": "A0A0G2JEB6" } ], "protein_names": [ { "name": "Cilia and flagella-associated protein 47", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0A0G2JEB6" } ], "function": [ { "annotation": "Plays a role in flagellar formation and sperm motility.", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEB6", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6#function" }, { "database": "PubMed", "id": "33472045", "url": "https://glygen.org/publication/PubMed/33472045" } ] } ], "disease": [ { "disease_id": "DOID:0112274", "recommended_name": { "id": "DOID:0112274", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112274", "name": "X-linked spermatogenic failure 3", "description": "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1." }, "synonyms": [ { "id": "DOID:0112274", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112274", "name": "SPGFX3", "description": "" }, { "id": "MONDO:0025354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0025354", "name": "spermatogenic failure, X-linked, 3", "description": "" }, { "id": "MONDO:0025354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0025354", "name": "SPGFX3", "description": "" }, { "id": "MONDO:0025354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0025354", "name": "spermatogenic failure, X-linked, 3", "description": "" }, { "id": "MONDO:0025354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0025354", "name": "spermatogenic failure, X-linked, 3, X-linked recessive", "description": "" }, { "id": "MIM:301059", "resource": "MIM", "url": "https://www.omim.org/entry/301059", "name": "Spermatogenic failure, X-linked, 3", "description": "Spermatogenic failure, X-linked, 3" } ], "evidence": [ { "id": "0112274", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112274" } ] }, { "disease_id": "DOID:12336", "recommended_name": { "id": "DOID:12336", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12336", "name": "male infertility", "description": "" }, "synonyms": [], "evidence": [ { "id": "12336", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEB6", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Cfap47", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6", "locus": { "chromosome": "X", "start_pos": 78310165, "end_pos": 78560891, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000073077", "url": "https://www.ensembl.org/id/ENSMUSG00000073077" } ] } } ], "crossref": [ { "id": "ENSMUSG00000073077", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000073077", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "IPR001715", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001715", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036872", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036872", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "3781475", "url": "http://www.informatics.jax.org/marker/MGI:3781475", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "PMTNEAK", "url": "https://omabrowser.org/oma/group/PMTNEAK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "313025at2759", "url": "http://www.orthodb.org/?query=313025at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45912", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45912", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45912:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45912:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PR_A0A0G2JEB6", "url": "http://purl.obolibrary.org/obo/PR_A0A0G2JEB6", "database": "PRO", "categories": [ "Protein" ] }, { "id": "A0A0G2JEB6", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JEB6-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AXF0", "url": "https://www.uniprot.org/uniprot/B1AXF0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AXF0-1", "url": "https://www.uniprot.org/uniprot/B1AXF0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AY26", "url": "https://www.uniprot.org/uniprot/B1AY26", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AY26-1", "url": "https://www.uniprot.org/uniprot/B1AY26-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QP97", "url": "https://www.uniprot.org/uniprot/J3QP97", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QP97-1", "url": "https://www.uniprot.org/uniprot/J3QP97-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDAERGSVAPRDIDTLKKEVQLRVNPLVLKFQDAVSGKVYRLPLTVHNLGRWNQKIRFQEPSKPQFKLLLTSLDKELASGLQMTAMVEYHPNKNEDMSDHIFISVGNKVLDIPLFGLIPVCQLEIVPVVDFGTLVANSKVHCKEITIINRGKAPGKFKAEYQGQLPIVISPSSGIVKAKTSMVIKVDFCADQAQIVNEMARVSLQGCPETFLNIKVRVVEQIIELFHMNSERKLECIRFGSVFFGTSKLEHALLYNNSPESINWVAIMQDDCVGEELGTNIHQRTDIAINNISYLNKIKKIDMTDFMSCVPNEGTLLPYQKIVITFCFSPKLVVDTKKDVGPSHRQDYALFVRFDSVGSKDGFLRDDNSNTMKSNRLQKVELALTGSGLPVILQFDPGKSLTFAPCHMGEHSDILCIVKNQSISLPVMYHFKKTAHFKMDPERGKIDEGCIQNVICSFVPHQIGVFKVKQVIEIIGPVADDNLRSLSMKPFLYIHLNFSSTCKAFTRKVGVKINPGISPLISNPTRHFVAKDSEKKDDLPPVAAMLQSTATKLHDHCLKDESTKNALIAFPNDRATSIRSGDHHEHFRTIFTKIPRYDYTDPDYEYTDLEKLERKAHRDYYTNYINNLRTIRLRKEAQRERKFPVNEVDIGMLPLSGLKSPPLSQSEIEEEIPPSLKASSLKANRLLSTKKIASRESECLQRKITRGLKSKPTTHQEKQECSKVLTPKQIHQVIVGPSVLNFGNICVKSTNTHLLHIVNMLPMYILIQLDVDFEELQKTKQFSYVIPPTSSTYISMVFESSTSGKFWKSFTFKINNIPGGHILVMAAILPVKLELSSNEIVLRPQSFLLKTCFRGTVRLYNHLNCPAQFGWKPVTTLRGIAFTICPAQGTVDPYCSLECEVTWQPGFSSPDKGEFLLQVSGGNTLTLKCIAHVGHTKVTFLEPRILFSNCSQGLTTWRKAILHNIGQNHAYFKVCDQSLLSTINIVPSEGIIPFGGITVLNISCTPSVAEKFDTRAKVAIHHANVIDLRIGGSVEIPDVEILPSTFNFSGTYVGTTEIIPFIIKNRGVTRARVEFNLKEFPLFAMDFKGNAGECKNVEGPYMYAIEVEEGTSAECGITFSPVEVATYDFSFPVLINSFKASDLYCEYLSQQKVLMPRVSPLIPPCFVQATVLRAPLELSSTVFLFKIPLYEFQHNKEVTRIQDLVLHNISKKTVLWSLDIGRIDKYFKSGIFKFTALIGSLKPNEKYTISIHFCPKQTITYLADVAIRLNDNLFDYRILHLIGEIQLPKISFDPSFICFTPVPLDVTTGVDIRILPQNYFSNSTLHFKIPTAKLLDNDEIHPLTVTFPNGRVIKGSNTGLNDEILCHLSFSSSKPVSFFANLFFSDDRNNWFSLPVTATSENCILTIYLYLAVHLDTQRVVLKEEKQGNIKKPRGSFLVPRRDSKSFASQKMKRGSLVPKFNDAEVICGNLFVGMEISRDYFDSDESIAEKLYAKYLEKEEKCQQFFAPEEGSKAFDYFQKVVNAAQTWFSLFGWPEGPHSLSIPETIRRDVQKIQFYSTSSPPKKFSRQSDFSKYNKTIYDVILHLSGKLPPGINAGQSLPVDNVERVMQLHLQHASLLDFITAQGGCISHVLPEFLLEPKDYMKWLEITTATKSTALSTLKGNYSVNIDMDNFEAWSKRAWTDVFLQIYKVTILSRVTPHCTSSMPILHGENKSKISPCFASSNIYSDSERILLSWLNTNYESQRTSIWKNNKSDVPPGRWIVNFDSDLLDGLVFATQLAAYCPFLIETYFINMYTKPKRPEQYLHNCLIIINSLREIGFDLNIQAIDICDPNPVLMLMLCVYLYERLPTYLPKKVVPFSCTLYDVVVGQILLKNPSLKNLVYTATIVGRDANNFCLAQTGNVVTIGPKNHIVLVVKFVSRFLHPAEATLLLISRPKCGIGGSTLAFALKGEIRNFKAIDVIKCKAPCYQWKEVTVNVKNPFPSGGDFHVILVESTTLMYLPAQVTDSSKVSVMPDHMRSSDYAADQSSSHAENGLRTSIKSNFIREFFCSSTTLSLRPKTSSSIDVYYLPFDMHVRYCAIILSNKDIGDLIYIIEGRGLIPLPSNFLPLEPPSPIDYSTSLEEDKEDPILYLNCKPHQILDMDLKIPLTNEAKEKALAFAAQQQMSTLEYERRAISGTLESSTIRAAVALLGLTKIECLLLFNMSKLKKPKSILYTTELSLPAHFNIPRKIYIPQIPEPPDFHMQSLQIKPQIVSGERPFQKPLPSIQAALEGTVSIPLRFAPLGSGRYPCKLLLLSRHDVRVYLLEGIVNEEVPEAELLFKTPAFQPLTQNIPIKNESKKLSKFHVKIEGEWFHGPPILHVGPGETIQYPLTFKPILECEIMGKLTLQNEVDGMAHIVEIDGIGTKPIALDHIIIDCKVGKVTDKSIIVPNYTKSLLTFKVTSDLSIVWGNSFITIEPDDSIPYTLHVCPWKRGTFKGAIMFFVKSRDEEESQEETDTEKDFSSQETPSDQSTIIFEEYSEEKVKALKIWYHLEIRSSPGPPVDIIELHCIALETTCIEIPISNSKNQPVCLDVKLTCSALNGPVEMTLAPLESVTYIVWYSPATTGYKEESIIFQPEMGEEFWYLLKLTTELPKPKEIPEMQCDLGKKIIQTLPLYNPTHETLELRIRNSNPINFVIELNRKLPLVLLPHSTTELSVYFHPSGLGRHGHETCINFYCTQFKEWKFYLFGVGLYPRPIELKRVTTILGLQASVMVHFRNPTSEDVSVDLILTNKEQPKGLAIDQCWKTFLHENAAFRFSSLRRTHGIIVPPKGNLDIPVLFIPSTMTLYKTMVIVKMKRTNKKNWLIDNFDELSAETKRYMGVGYGEIQAIHWMYPIIGLPQAPPPKSSPVIIRCQANKQREEKVEVSMLGSFFNTHPKPDMTEFLVFPKRNVYKSIYEDVDVNSKRREFEYEIEFESEDVKSNLDSFVTLYLFRKHFNVKSEIISLIFNVIFTPRKPFRANVTLNVECITEGIWKFPITLIATEPEVEDVINIHGIGLFKTSETEFRLTSQTRYYEPFVAHFLPGSDQEFFVKPQSGELPPFYTKGIVIIVGFKPRMYSKKYQATLVIQTDEIYWLYEINGLAPSSKSLTHVTAKVDATSKIYDCMPPIQRNFIRENAKLRSTAVSSTVKGAPLFKKHK", "length": 3184, "header": "sp|A0A0G2JEB6-1|CFA47_MOUSE Isoform 1 of Cilia and flagella-associated protein 47 OS=Mus musculus OX=10090 GN=Cfap47 PE=1 SV=2 CANONICAL=A0A0G2JEB6-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JEB6-1", "url": "", "sequence": { "sequence": "MDAERGSVAPRDIDTLKKEVQLRVNPLVLKFQDAVSGKVYRLPLTVHNLGRWNQKIRFQEPSKPQFKLLLTSLDKELASGLQMTAMVEYHPNKNEDMSDHIFISVGNKVLDIPLFGLIPVCQLEIVPVVDFGTLVANSKVHCKEITIINRGKAPGKFKAEYQGQLPIVISPSSGIVKAKTSMVIKVDFCADQAQIVNEMARVSLQGCPETFLNIKVRVVEQIIELFHMNSERKLECIRFGSVFFGTSKLEHALLYNNSPESINWVAIMQDDCVGEELGTNIHQRTDIAINNISYLNKIKKIDMTDFMSCVPNEGTLLPYQKIVITFCFSPKLVVDTKKDVGPSHRQDYALFVRFDSVGSKDGFLRDDNSNTMKSNRLQKVELALTGSGLPVILQFDPGKSLTFAPCHMGEHSDILCIVKNQSISLPVMYHFKKTAHFKMDPERGKIDEGCIQNVICSFVPHQIGVFKVKQVIEIIGPVADDNLRSLSMKPFLYIHLNFSSTCKAFTRKVGVKINPGISPLISNPTRHFVAKDSEKKDDLPPVAAMLQSTATKLHDHCLKDESTKNALIAFPNDRATSIRSGDHHEHFRTIFTKIPRYDYTDPDYEYTDLEKLERKAHRDYYTNYINNLRTIRLRKEAQRERKFPVNEVDIGMLPLSGLKSPPLSQSEIEEEIPPSLKASSLKANRLLSTKKIASRESECLQRKITRGLKSKPTTHQEKQECSKVLTPKQIHQVIVGPSVLNFGNICVKSTNTHLLHIVNMLPMYILIQLDVDFEELQKTKQFSYVIPPTSSTYISMVFESSTSGKFWKSFTFKINNIPGGHILVMAAILPVKLELSSNEIVLRPQSFLLKTCFRGTVRLYNHLNCPAQFGWKPVTTLRGIAFTICPAQGTVDPYCSLECEVTWQPGFSSPDKGEFLLQVSGGNTLTLKCIAHVGHTKVTFLEPRILFSNCSQGLTTWRKAILHNIGQNHAYFKVCDQSLLSTINIVPSEGIIPFGGITVLNISCTPSVAEKFDTRAKVAIHHANVIDLRIGGSVEIPDVEILPSTFNFSGTYVGTTEIIPFIIKNRGVTRARVEFNLKEFPLFAMDFKGNAGECKNVEGPYMYAIEVEEGTSAECGITFSPVEVATYDFSFPVLINSFKASDLYCEYLSQQKVLMPRVSPLIPPCFVQATVLRAPLELSSTVFLFKIPLYEFQHNKEVTRIQDLVLHNISKKTVLWSLDIGRIDKYFKSGIFKFTALIGSLKPNEKYTISIHFCPKQTITYLADVAIRLNDNLFDYRILHLIGEIQLPKISFDPSFICFTPVPLDVTTGVDIRILPQNYFSNSTLHFKIPTAKLLDNDEIHPLTVTFPNGRVIKGSNTGLNDEILCHLSFSSSKPVSFFANLFFSDDRNNWFSLPVTATSENCILTIYLYLAVHLDTQRVVLKEEKQGNIKKPRGSFLVPRRDSKSFASQKMKRGSLVPKFNDAEVICGNLFVGMEISRDYFDSDESIAEKLYAKYLEKEEKCQQFFAPEEGSKAFDYFQKVVNAAQTWFSLFGWPEGPHSLSIPETIRRDVQKIQFYSTSSPPKKFSRQSDFSKYNKTIYDVILHLSGKLPPGINAGQSLPVDNVERVMQLHLQHASLLDFITAQGGCISHVLPEFLLEPKDYMKWLEITTATKSTALSTLKGNYSVNIDMDNFEAWSKRAWTDVFLQIYKVTILSRVTPHCTSSMPILHGENKSKISPCFASSNIYSDSERILLSWLNTNYESQRTSIWKNNKSDVPPGRWIVNFDSDLLDGLVFATQLAAYCPFLIETYFINMYTKPKRPEQYLHNCLIIINSLREIGFDLNIQAIDICDPNPVLMLMLCVYLYERLPTYLPKKVVPFSCTLYDVVVGQILLKNPSLKNLVYTATIVGRDANNFCLAQTGNVVTIGPKNHIVLVVKFVSRFLHPAEATLLLISRPKCGIGGSTLAFALKGEIRNFKAIDVIKCKAPCYQWKEVTVNVKNPFPSGGDFHVILVESTTLMYLPAQVTDSSKVSVMPDHMRSSDYAADQSSSHAENGLRTSIKSNFIREFFCSSTTLSLRPKTSSSIDVYYLPFDMHVRYCAIILSNKDIGDLIYIIEGRGLIPLPSNFLPLEPPSPIDYSTSLEEDKEDPILYLNCKPHQILDMDLKIPLTNEAKEKALAFAAQQQMSTLEYERRAISGTLESSTIRAAVALLGLTKIECLLLFNMSKLKKPKSILYTTELSLPAHFNIPRKIYIPQIPEPPDFHMQSLQIKPQIVSGERPFQKPLPSIQAALEGTVSIPLRFAPLGSGRYPCKLLLLSRHDVRVYLLEGIVNEEVPEAELLFKTPAFQPLTQNIPIKNESKKLSKFHVKIEGEWFHGPPILHVGPGETIQYPLTFKPILECEIMGKLTLQNEVDGMAHIVEIDGIGTKPIALDHIIIDCKVGKVTDKSIIVPNYTKSLLTFKVTSDLSIVWGNSFITIEPDDSIPYTLHVCPWKRGTFKGAIMFFVKSRDEEESQEETDTEKDFSSQETPSDQSTIIFEEYSEEKVKALKIWYHLEIRSSPGPPVDIIELHCIALETTCIEIPISNSKNQPVCLDVKLTCSALNGPVEMTLAPLESVTYIVWYSPATTGYKEESIIFQPEMGEEFWYLLKLTTELPKPKEIPEMQCDLGKKIIQTLPLYNPTHETLELRIRNSNPINFVIELNRKLPLVLLPHSTTELSVYFHPSGLGRHGHETCINFYCTQFKEWKFYLFGVGLYPRPIELKRVTTILGLQASVMVHFRNPTSEDVSVDLILTNKEQPKGLAIDQCWKTFLHENAAFRFSSLRRTHGIIVPPKGNLDIPVLFIPSTMTLYKTMVIVKMKRTNKKNWLIDNFDELSAETKRYMGVGYGEIQAIHWMYPIIGLPQAPPPKSSPVIIRCQANKQREEKVEVSMLGSFFNTHPKPDMTEFLVFPKRNVYKSIYEDVDVNSKRREFEYEIEFESEDVKSNLDSFVTLYLFRKHFNVKSEIISLIFNVIFTPRKPFRANVTLNVECITEGIWKFPITLIATEPEVEDVINIHGIGLFKTSETEFRLTSQTRYYEPFVAHFLPGSDQEFFVKPQSGELPPFYTKGIVIIVGFKPRMYSKKYQATLVIQTDEIYWLYEINGLAPSSKSLTHVTAKVDATSKIYDCMPPIQRNFIRENAKLRSTAVSSTVKGAPLFKKHK", "length": 3184, "header": "sp|A0A0G2JEB6-1|CFA47_MOUSE Isoform 1 of Cilia and flagella-associated protein 47 OS=Mus musculus OX=10090 GN=Cfap47 PE=1 SV=2 CANONICAL=A0A0G2JEB6-1" }, "locus": { "chromosome": "X", "start_pos": 78560891, "end_pos": 78310181, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000197180", "url": "https://www.ensembl.org/id/ENSMUST00000197180" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000142707", "url": "https://www.ensembl.org/id/ENSMUSP00000142707" } ] } }, { "isoform_ac": "B1AXF0-1", "url": "", "sequence": { "sequence": "MWKSLEGTVSIPLRFAPLGSGRYPCKLLLLSRHDVRVYLLEGIVNEEVPEAELLFKTPAFQPLTQNIPIKNESKKLSKFHVKIEGEWFHGPPILHVGPGETIQYPLTFKPILECEIMGKLTLQNEVDGMAHIVEIDGIGTKPIALDHIIIDCKVGKVTDKSIIVPNYTKSLLTFKVTSDLSIVWGNSFITIEPDDSIPYTLHVCPWKRGTFKGAIMFFVKSRDEEESQEETDTEKDFSSQETPSDQSTIIFEEYSEEKVKALKIWYHLEIRSSPGPPVDIIELHCIALETTCIEIPISNSKNQPVCLDVKLTCSALNGPVEMTLAPLESVTYIVWYSPATTGYKEERCVLGLDCNLLLSL", "length": 360, "header": "tr|B1AXF0-1|CFA47_MOUSE Computationally mapped isoform of Cilia and flagella-associated protein 47 OS=Mus musculus OX=10090 GN=Cfap47 PE=1 SV=1 CANONICAL=A0A0G2JEB6-1" }, "locus": { "chromosome": "X", "start_pos": 78401565, "end_pos": 78374320, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000114021.4", "url": "https://www.ensembl.org/id/ENSMUST00000114021.4" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000109654.3", "url": "https://www.ensembl.org/id/ENSMUSP00000109654.3" } ] } }, { "isoform_ac": "B1AY26-1", "url": "", "sequence": { "sequence": "MDAERGSVAPRDIDTLKKEVQLRVNPLVLKFQDAVSGKVYRLPLTVHNLGRWNQKIRFQEPSKPQFKLLLTSLDKELASGLQMTAMVEYHPNKNEDMSDHIFISVGNKVLDIPLFGLIPVCQLEIVPVVDFGTLVANSKVHCKEITIINRGKAPGKFKAEYQGQLPIVISPSSGIVKAKTSMVIKVDFCADQAQIVNEMARVSLQGCPETFLNIKVRVVEQIIELFHMNSERKLECIRFGSVFFGTSKLEHALLYNNSPESINWVAIMQDDCVGEELGTNIHQRTDIAINNISYLNKIKKIDMTDFMSCVPNEGTLLPYQKIVITFCFSPKLVVDTKKDVGPSHRQDYALFVRFDSVGSKDGFLRDDNSNTMKSNRLQKVELALTGSGLPVILQFDPGKSLTFAPCHMGEHSDILCIVKNQSISLPVMYHFKKTAHFKMDPERGKIDEGCIQNVICSFVPHQIGVFKVKQVIEIIGPVADDNLRSLSMKPFLYIHLNFSSTCKAFTRKVGVKINPGISPLISNPTRHFVAKDSEKKDDLPPVAAMLQSTATKLHDHCLKDESTKNALIAFPNDRATSIRSGDHHEHFRTIFTKIPRYDYTDPDYEYTDLEKLERKAHRDYYTNYINNLRTIRLRKEAQRERKFPVNEVDIGMLPLSGLKSPPLSQSEIEEEIPPSLKASSLKANRLLSTKKIASRESECLQRKITRGLKSKPTTHQEKQECSKVLTPKQIHQVIVGPSVLNFGNICVKSTNTHLLHIVNMLPMYILIQLDVDFEELQKTKQFSYVIPPTSSTYISMVFESSTSGKFWKSFTFKINNIPGGHILVMAAILPVKLELSSNEIVLRPQSFLLKTCFRGTVRLYNHLNCPAQFGWKPVTTLRGIAFTICPAQGTVDPYCSLECEVTWQPGFSSPDKGEFLLQVSGGNTLTLKCIAHVIISLQCDFHL", "length": 943, "header": "tr|B1AY26-1|B1AY26_MOUSE Computationally mapped isoform of Cilia and flagella associated protein 47 OS=Mus musculus OX=10090 GN=Cfap47 PE=1 SV=1 CANONICAL=A0A0G2JEB6-1" }, "locus": { "chromosome": "X", "start_pos": 78560891, "end_pos": 78526177, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000101410.3", "url": "https://www.ensembl.org/id/ENSMUST00000101410.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000098956.3", "url": "https://www.ensembl.org/id/ENSMUSP00000098956.3" } ] } }, { "isoform_ac": "J3QP97-1", "url": "", "sequence": { "sequence": "LAVHLDTQRVVLKEEKQGNIKKPRGSFLVPRRDSKSFASQKMKRGSLVPKFNDAEVICGNLFVGMEISRDYFDSDESIAEKLYAKYLEKEEKCQQFFAPEEGSKAFDYFQKVVNAAQTWFSLFGWPEGPHSLSIPETIRRDVQKIQFYSTSSPPKKFSRQSDFSKYNKTIYDVILHLSGKLPPGINAGQSLPVDNVERVMQLHLQHASLLDFITAQGGCISHVLPEFLLEPKDYMKWLEITTATKSTALSTLKGNYSVNIDMDNFEAWSKRAWTDVFLQIYKVTILSRVTPHCTSSMPILHGENKSKISPCFASSNIYSDSERILLSWLNTNYESQRTSIWKNNKSDVPPGRWIVNFDSDLLDGLVFATQLAAYCPFLIETYFINMYTKPKRPEQYLHNCLIIINSLREIGFDLNIQV", "length": 418, "header": "tr|J3QP97-1|J3QP97_MOUSE Computationally mapped isoform of Cilia and flagella associated protein 47 OS=Mus musculus OX=10090 GN=Cfap47 PE=4 SV=1 CANONICAL=A0A0G2JEB6-1" }, "locus": { "chromosome": "X", "start_pos": 78478024, "end_pos": 78445231, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000179788.2", "url": "https://www.ensembl.org/id/ENSMUST00000179788.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000137161.2", "url": "https://www.ensembl.org/id/ENSMUSP00000137161.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.", "journal": "American journal of human genetics", "date": "2021", "authors": "Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Toure A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEB6", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6" } ], "reference": [ { "type": "PubMed", "id": "33472045", "url": "https://glygen.org/publication/PubMed/33472045" } ] } ], "pathway": [], "orthologs": [ { "uniprot_canonical_ac": "Q6ZTR5-5", "protein_name": "Cilia- and flagella-associated protein 47", "gene_name": "CFAP47", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MNTQKGSLTINVHRGSLAMSIQRGSLVPRDMDSSGRDMQLRVIPAEVKFLDTMAGRVYRLPITVHNICRWNQKIRFKEPVKPQFKLMLTSLDKELASGLQMTAMVEYHPDKDEDTFDRLLISIENKTTEIPLIGLIPSCQLEIESVVNFGTLVANSKVYSKEITITNHGKAPGIFKAEYHGQLPILIFPTSGIVDAKSSMVIKVDFCADQPRIVDEEAIVILQGQPEMLLSIKAHVVEQIIELLSMSSDRRLECIHFGPVFFGSSKIKHARVYNNSPEPINWVAIIQDDAVGEELGTDIQQRTDIALNNLTYIRKIKNIDTTIIISCLPNEGTLQPYQKTVITFCFTPKLMAVGKKDIGPSYRQDYALFLRFESVGSKDGFLRDDDYKTIKSERFQKVELALTGTGLPVLLQFDPGPVLNFKPCFMGERSEIQCIIKNQCELLPVTYHFKKTANFEIDPEKGKITGGGMVDVMCSFVPHQLGVFKVKQMIEIIGLVAEEDLQSLSVKSFHHVYLAFNSICKASTKKVVMKFDPGILPSIRNPTGKFVVKDLAKRKNYAPVAMLQSAMTRTHNHRSCEEPVKDMLLAFPNDRAATIRSKDHHKHFRPIFTKVPRFNYVNHDFAYTTFEKQQKKLHENYYAMYLKYLRSVRLQKKQAERERMYSYDDTDIGLEPGSGLKSPSLSEAEIEEELSSAANSIRANRLLTTRGIASQEEESVRRKVLKGLKSEPSTPQEKHDCSLMLTPKQIHQVIVGPSVLNFGNICVNSPNTHLLHVINMLPMHVLLQLDTDLEELQKTNQFSYVILPTSSTYISMVFDSPTIGKFWKSFTFTVNNVPSGHILVVAVVQPVTLELSSNELVLRPRGFFMKTCFRGTVRLYNRQNCCAQFQWQPVNTGRGIAFSICPAKGTVEAYSSLECEVTWQQGFSSPEEGEFILHVFQGNALKLKCVAHLGRTKVLLLQPRILFSNCPQGLTTWRKAILQNVGQNHAYFKVCSQSLLPIINIIPSQGIVPFGGITVLNISCKPTVAEKFDTRAKVSIRHANVIDLRIGGSAEIADVEINPDVFNFSGAYIGGTQIIPFVIKNKGITRARVEFNLKDFPDFSMDLKDKSEEFKDPAVPYIYSLELEENTSLECSITFSPKEVTVVEFIIQVQINFFESSKLYTKYLSSSPSNPKTVPLIRPCYVQATALQSPLNLSSTKFVFEIPLHEMNPNNKVTKTQNLVLYNITKHHVTWTLDLSNTGKLFKDGTFKFSVLNGILRPNEKYNVSISFCPNRPGTYTADIPMLLNYIPVCYKILHLTGEVKSPELLFDPPFIFFTPVPLDITTVMDINILPQNYFRNSTLCVQIPTVRLLDGEEIHPLSVKFPKGRVIPGSHSGINNKLTCHLSFKSSKPVSFFTNLLFCDDRKNWFSLPVTATAENCILTIYPYMAIHLDKQNIILKNDKDEYLKKTRDGVLPPYQDAKPPSPASIKKTYTTSKFNDAEPAKGNLFIGVEVLPENLHLDESETSEEDHGSLEKEKYEQFLSLEEGTKAHYFFEKVVNAAQTWFSLFGWPEGPHSFSIPETIRRDVYKMQFYSSTSPPQKFSRQNDFSKYNKTIYDVLLHLSGKMPPGINSSQSLPVDNHEKRVIQLHLQHSSLLDFLNAQGGCISHVLPEFLLEPEDYKRWIEIMSSTNTMPVSSCTPKKKCSIVIEMSKFEAWSKRAWTDVFLQIYKVLVLSRVVPYCSNNMPPICVQNTPKVNPCFASSNIYSDSERILLSWMNINYENTRHVIWKNCHKDVIPSERWIVNFDKDLSDGLVFATQLGAYCPFLIESHFINMYTRPKSPEEYLHNCLIIVNTLYEIDFDVEIQATDICDPNPILMLMLCVYMYERLPTYLPKKVVSFECTLHDTVLNKILLKNSSSRNLVYNARIVGRDAADFSLSQKGNVVTISPRNEINVTLKFTSRFIRPAEASLLLISKPKNAVRGITMTFALKGKVLDFKAIDIIKCESPCYQFQEVTVNVKNPFHTAGDFSVILVESSTFVSSPTKLTESRQYPKHDDDMSSSGSDTDQGCSDSPNVLHTSIKSTFIREFFCSMHTVHLGVKGTSSLELRFLPFNMHVRYCVIILSNKKIGQLIYVAEGKGMTPLPSSCLPMNTSSSPVYYSTTREEGPNKKYPVLYLKCKPYQILYVDLKLPMTNEAKEKALAFAAQQQMSSIEYERRLITGTLESSSIRVAIALLGLTKIETLMLFRISKLRKPKTVSYTTEVSLPKYFYIPEKISIPWIPEPQVIKLSKAKASDGSVPLPLQFLPLQSGRYPCKILLKSRYDVRAYYVEGIVNEEQPEAKFEFETPAFEALTQNIPIKNQTNDKWTFQVTIEGEWFYGPVDLHVGPDEIVEYPLTFKPIFECVITGKLILQNEVDGREHIFDIKGVGKKPSALEHITVECQVGNVTQKHITLPHFTNTALTFKVTADLPIVWGNPQITVYPYKEILYLIHVRPWKRGILKGTITFSTTRRCTTRRKHDDYEEDTDQDQALSCLDSITEQSSILDDADTYGNFNNLRFWYNLEIHSTPGPPIEIMEMTCIALDSTCIEIPLSNPKDRGLHLEVQLTSAALNGDNEIILSPLQCTKYIVWYSPATTGYSDESIIFQPEMAEEFWYLLKLTIELPKPTTMPEIQCDLGKHVTQIIPLVNCTHETLKLQVTNSNPENFVLDINRKSQLIISPHSTTELPVLFYPSALGRADHQACINFYCTQFTEWKFYLSGVGLFPQPLDTERITTRIGLQSTIVIPFKNPTMEDVLIDIILTSVEHPRNLVMDHCWDSFIYESSAFRFSSPSEIQGIALPPKGNIDISLLFIPQIMKLHKTMVIIEMTKANGKYWPIDNFDELDIKFKSIVGIDSEEIQAIHWIYPIVGLPQAPPPKSPPVVIQCQSRKRAEEKVEIILNAGFFGFSLTPDLTEVLVIPKRNSHNFCEDPNEIPKIHEFEYEIQFESEAMKSKLESCVALYMIEKSYDIMAKRITFIFNLVFTPKKPLRSHITLKIECVTEGIWKFPIMLIATEPDTDAVIDIEGVGLFKESVFELRLKSQTRNPEPFTAHFLPGSDLEFFVKPQAGELLPFNTNGTLITVGFKPKMYCRKYKATLVIQTEEMYWKYEINGLTPTTVPPKNAKAKIDATHKTHDNMPVRPHNFVRENTKLIRTGVSSTIKGAPLVKNQ", "length": 3187 }, "evidence": [ { "id": "A0A0G2JEB6", "url": "https://omabrowser.org/oma/group/A0A0G2JEB6/", "database": "OMA" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEB6", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEB6", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEB6", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6" } ], "pmid": "" }, { "name": "sperm connecting piece", "id": "GO:0097224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097224", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEB6", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEB6", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEB6", "url": "https://www.uniprot.org/uniprot/A0A0G2JEB6" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1001, "end_pos": 1003, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1047, "end_pos": 1049, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1208, "end_pos": 1210, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1322, "end_pos": 1324, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1577, "end_pos": 1579, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1665, "end_pos": 1667, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1714, "end_pos": 1716, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1754, "end_pos": 1756, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2206, "end_pos": 2208, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2340, "end_pos": 2342, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2435, "end_pos": 2437, "annotation": "n_glycosylation_sequon" }, { "start_pos": 256, "end_pos": 258, "annotation": "n_glycosylation_sequon" }, { "start_pos": 291, "end_pos": 293, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3006, "end_pos": 3008, "annotation": "n_glycosylation_sequon" }, { "start_pos": 420, "end_pos": 422, "annotation": "n_glycosylation_sequon" }, { "start_pos": 497, "end_pos": 499, "annotation": "n_glycosylation_sequon" }, { "start_pos": 949, "end_pos": 951, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "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", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": 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