{ "uniprot_canonical_ac": "A2A9C3-1", "ptm_annotation": [], "sequence": { "header": "sp|A2A9C3-1|SZT2_MOUSE Isoform 1 of KICSTOR complex protein SZT2 OS=Mus musculus OX=10090 GN=Szt2 PE=1 SV=1 CANONICAL=A2A9C3-1", "length": 3431, "sequence": "MASERPEPEVEEAGQVFLLMKKDYRISRNVRLAWFLNHLHQTVQATPQELLLQSEQELEVLSVLPPGWQPDEPVVPRPFLLVPSTRVTFLAWQYRFVIELDLSPSTGIVDDSTGEILFDEVFHALSRCLGGLLRPFRVPGSCINFQPEIYVTIQAYSSIIGLQSHQVLVQGCLLDPSQREAFLQQVYEQLCLFEDKVATMLQQQYEPQGQAEDQSPESGESLGRKVGVSMVTADLGLVSMIRQGILALQLLPSNSSAGIIVITDGVTSVPDVAVCETLLNQLRSGTVACSFVQVGGVYSYDCSFGHVPNVELMKFIAMATFGSYLSTCPETEPGNLGLTVYHRAFLLYSFLRSGEALNPEYYCGSQHRLFNEHLVSASSNPALALRRKKHTEKEVPADLVSTVSVRLREGYSVREVTLAKGGSQLEVKLVLLWKHNMRIEYVAVAPWPLEPEGPRGTRVEVTMEGGYDILHDVSCALRQPIRSLYRTHVIRRFWNTLQSINQTDQMLAHLQSFSSVPEHFTLPDSTKSGVPLFYIPPGSSTPVLSLQHSGSDSSHAQFAAYWKPVLSMDANSWQRWLHMHRLVLILEHDTPLPKHLHTPGSNGRYSTIQCRISHSSLTSLLRDWSSFVLVEGYSYVKLLSSAPDQPPSSFYMVRIISKTPCMVLRLGFPIGTPAQARHKIVSGLKEEILRLRFPHRVQSKEPTPKVKRKGLGGVGGSSPSKSPPTLGPQQALSDRPCLVVLHKPLDKLLIRYEKLPLDYRAPFLLTLEPPGPLPLVSGRSASSSLASLSRYLYHRRWLWSVPSGLAPTLPLSATAQLLSVLTEVRLSEGFHFACSGEGIINMVLELPVQNEPLGQAAAEEKHTCVVQYILFPPHSTSTKDSFSTDDDNDVEVEALEGDSELNLVTEVWVEPQYGRVGPGPENWKHLQDLTYSEIPQALHPRDAACIGSLLTFEYLIQLCQSKEWGPLPPEPRLSDGLDQRGDTCVHEIPFHFDLLGLLPQCQQLQMFFLLLSREPEGVPLAEGPCPTNDMVLCLLHSCLGQELSDREIPLTPADQAAFLNEVLRRSLRDPGPEGPPVGGHAVAKDRAGNSTQASGDSTLPSQSVVIPGVLRSSISAQPPQWHCYARLLGPQHVFLTFLPATFSDVQHLTAYGLESSFQEETKPKLGDWSGAPSLKDPGATGTKATESQVPTLSVTLASDSAQDSGEPSTPSCQDLAANSGRQAPQTEGADGPRTRCPVYIYSCSLEALREQMVGLQPPQAPRDLIFRAQDLDHPSSSSAWMEPRCKEAATHCALLQEHAQRCFVRGLFRSLQQAQSVTCQDLLTAVDACEELLQEIDITSFLLALCGHTWGLPHAPPSPGPLSPGPFSSSIEEGPEPRERAILVSESSIETEDLSEPEFQSSRVSGNLDPGPEISLTDVCQLRGEAHDALHSLIQEKFLEISRLHFRTVPSNPHYFFYCPPSSRREDEGPRDTVDRKISDLEFSEAELVGEEGDTSACCVVTESDPELEVEYRESREPDLGPAGLDSASLSDADTVNPDEDSFSILGGDSPTGPDSLMHDLPPLFLHLTCSVRLRGQHSSVPVCSLPTCLGQVLSSLEGPPIGGRVPLRDLSITLDVFVLTLPLEVELPPASDPQHHRSTSESSASFPRSPGQPSSLRSDDGLGPPLPPPEEERHPGLSSLAMPHRLAIESTMNEIRWLLEDEMVGALRRGGIPQSPALHRAAAHIHSSSGRPTCLRQAPPLSFVFGPERSLTQFKEEFRRLHLPGHVLLEDPDSGFFFVAAGQQPGVLHGEPPSAAWAWHNHEDRAEDAEGEVLTASPQVPGSLEDSEGTPLISLPSLSQGGSQPGPSRGLSLMSSQGSVDSDHLGYDGGSSGSDSEGPGETLGEKALFTLRTPPGPAPPQPSLPVLPGPSLPDFWLIVRILQDRVEVYAHARSLSREDGGPGAECRHLQQFLVRRVGEICREVNQRLLLQDLHDSHVCNSLLVAESEEDLWRSETPFHSRQRAVLPSDDFAADESCAPRGYLAATMQFVPGHFSCDVVWGTVIRVHSRLKMGPSMGVSRAIQALRSVLNAFSVVNRKNMFVYQERATKAVYYLRLLETSCSDRPWEGDTLPPSLALSRSQEPISSEDSVAPRSPLDMASSRSSDAVRPVGQVDRHIQLLVHGVGQAGPEITDELVRVLRRRLDEATLDIITVMLVRNCKLTPADVEFIQPPGSLPSEVLHLVLPPSCRPCLPALAWYLRQNLLTFLHSPKYTDSNSRNHFQHPLPAQGGLPDLDIYLYNKPGGQGTGGKGVACITLAFVEEGGTPISLASWPPSSPGPPDPLREEEFEQLTQVIRCPNTLDSCSAQDGSPRLRLDVWEKGNISIVQLEEKLRAAARQALADAIMELRLLPASLCTEDIPPGSLKSGPLDTKSPACRANTFPCTPVSGEPVTPPSKAGRRSFWDMLSKTEAGDLGSPKTTDDIVLDRPEDTRGRRRHKTENVRTPGGSERAPGPDSGAQRQRRRTTQLEEGEVGTLHPVFARVIQRWMGFMVQIGCASVSRSSTHMVSRFLLPSILSEFTTLVISMAGDTSVRVFEQHLGSEPDVFSPCSPGQLGPAPRPAAQRHLLLLGRNFAQWRRPTQQAAKAVQRFESGGDGSPGRSAPRQRLLLLEVTDKKLQLLTYNWAPDLGAALGRALIRLVQWQNARAHLISCLLSQKLGLFHHCGQLDFPMRDGKEPNPFLLPTMEVETLIRNASPPLSREQGRLSGSSRGGGPLSLDTFPFDEALRDITAARPSSTGGPAPRPPDPVTYHGQQFLEIKMTERKELERQMKMENLFVTWQQRSAPASMPISAGELETLKQSSRLVHYCATALLFDPAAWLHGPPETCAPSEGQRRPCPESGSGSREVPTSCESLDVPPPGAREEPWLKELSLAFLQQYVQYLQSIGFVLVPLRPPSPARSTSRLRAMAILGTEGRGSFSCPKAKAEGSPKSTSTPVTTYHLQRALPGGIILMELTFQGCYFCVKQFALECSRIPMGQAVNSQLSLLFTEECDKVRDLMHVHSFSYDFHLRLVHQHVLGAHLALRHGYHLTTFLQHFLAHHPDGPHFGRNHIYQGTLELPTPLIAAHQLYNYVADHASSYHMKPLRMARPGGPEHNEYALVSAWHSSGSYLDSEGLRHQDDFDVSLLVCHSAAPFEEQGEAERHVLRLQFFVVLTSQRELFPRLTADMRRFRKPSRLPLEPETPGSLVGSPREASGMMLAPGPAPLFPPLAAEVGMARARLAQLVRLAGGHCRRDTLWKRLFLLEPPGPDRLRLGGRLALAELEELLEAVHAKSIADIDPQLDCFLSMTVSWYQSLIKVLLSRFPQSCRHFQSPDLGTQYLVVLNQKFTDCFVLVFLDSHLGKTSLTVVFREPFPVQPQDSESPPAQLVSTYHHLESVINTACFTLWTRLL" }, "uniprot_id": "SZT2_MOUSE", "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12520002", "type": "PubMed", "id": "12520002" } ], "title": "BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.", "journal": "Nucleic acids research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813.3", "id": "NP_937813.3", "database": "RefSeq" } ], "authors": "Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC, Ferrin TE", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19624305", "type": "PubMed", "id": "19624305" } ], "title": "Szt2, a novel gene for seizure threshold in mice.", "journal": "Genes Brain Behav.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813.3", "id": "NP_937813.3", "database": "RefSeq" } ], "authors": "Yang Y., Frankel W.N., Mahaffey C.L., O'Brien T.P., Beyer B.J.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20045724", "type": "PubMed", "id": "20045724" } ], "title": "A novel giant peroxisomal superoxide dismutase motif-containing protein.", "journal": "Free Radic. Biol. Med.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "authors": "Methner A., Geerts A., Golz S., Jensen L.T., Lewerenz J., Albrecht P., Letz J., Toutzaris D.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28199306", "type": "PubMed", "id": "28199306" } ], "title": "KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.", "journal": "Nature", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813.3", "id": "NP_937813.3", "database": "RefSeq" } ], "authors": "Gu X., Shen K., Sabatini D.M., Chantranupong L., Scaria S.M., Wyant G.A., Abu-Remaileh M., Condon K.J., Frankel W.N., Kedir J., Orozco J.M., Petri S., Wolfson R.L.", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28199315", "type": "PubMed", "id": "28199315" } ], "title": "SZT2 dictates GATOR control of mTORC1 signalling.", "journal": "Nature", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813.3", "id": "NP_937813.3", "database": "RefSeq" } ], "authors": "Peng M., Yin N., Li M.O.", "date": "2017" } ], "uniprot_ac": "A2A9C3", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A9C3", "type": "synonym", "resource": "RefSeq", "name": "6430407N22; TIGR" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A9C3", "type": "synonym", "resource": "RefSeq", "name": "Szt2" }, { "url": "https://www.uniprot.org/uniprot/A2A9C3", "type": "recommended", "resource": "UniProtKB", "name": "Szt2" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3#A2A9C3-1", "isoform_ac": "A2A9C3-1", "locus": { "end_pos": 118363331, "strand": "+", "start_pos": 118409189, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000075406", "id": "ENSMUST00000075406", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000074862", "id": "ENSMUSP00000074862", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A9C3-1|SZT2_MOUSE Isoform 1 of KICSTOR complex protein SZT2 OS=Mus musculus OX=10090 GN=Szt2 PE=1 SV=1 CANONICAL=A2A9C3-1", "length": 3431, "sequence": "MASERPEPEVEEAGQVFLLMKKDYRISRNVRLAWFLNHLHQTVQATPQELLLQSEQELEVLSVLPPGWQPDEPVVPRPFLLVPSTRVTFLAWQYRFVIELDLSPSTGIVDDSTGEILFDEVFHALSRCLGGLLRPFRVPGSCINFQPEIYVTIQAYSSIIGLQSHQVLVQGCLLDPSQREAFLQQVYEQLCLFEDKVATMLQQQYEPQGQAEDQSPESGESLGRKVGVSMVTADLGLVSMIRQGILALQLLPSNSSAGIIVITDGVTSVPDVAVCETLLNQLRSGTVACSFVQVGGVYSYDCSFGHVPNVELMKFIAMATFGSYLSTCPETEPGNLGLTVYHRAFLLYSFLRSGEALNPEYYCGSQHRLFNEHLVSASSNPALALRRKKHTEKEVPADLVSTVSVRLREGYSVREVTLAKGGSQLEVKLVLLWKHNMRIEYVAVAPWPLEPEGPRGTRVEVTMEGGYDILHDVSCALRQPIRSLYRTHVIRRFWNTLQSINQTDQMLAHLQSFSSVPEHFTLPDSTKSGVPLFYIPPGSSTPVLSLQHSGSDSSHAQFAAYWKPVLSMDANSWQRWLHMHRLVLILEHDTPLPKHLHTPGSNGRYSTIQCRISHSSLTSLLRDWSSFVLVEGYSYVKLLSSAPDQPPSSFYMVRIISKTPCMVLRLGFPIGTPAQARHKIVSGLKEEILRLRFPHRVQSKEPTPKVKRKGLGGVGGSSPSKSPPTLGPQQALSDRPCLVVLHKPLDKLLIRYEKLPLDYRAPFLLTLEPPGPLPLVSGRSASSSLASLSRYLYHRRWLWSVPSGLAPTLPLSATAQLLSVLTEVRLSEGFHFACSGEGIINMVLELPVQNEPLGQAAAEEKHTCVVQYILFPPHSTSTKDSFSTDDDNDVEVEALEGDSELNLVTEVWVEPQYGRVGPGPENWKHLQDLTYSEIPQALHPRDAACIGSLLTFEYLIQLCQSKEWGPLPPEPRLSDGLDQRGDTCVHEIPFHFDLLGLLPQCQQLQMFFLLLSREPEGVPLAEGPCPTNDMVLCLLHSCLGQELSDREIPLTPADQAAFLNEVLRRSLRDPGPEGPPVGGHAVAKDRAGNSTQASGDSTLPSQSVVIPGVLRSSISAQPPQWHCYARLLGPQHVFLTFLPATFSDVQHLTAYGLESSFQEETKPKLGDWSGAPSLKDPGATGTKATESQVPTLSVTLASDSAQDSGEPSTPSCQDLAANSGRQAPQTEGADGPRTRCPVYIYSCSLEALREQMVGLQPPQAPRDLIFRAQDLDHPSSSSAWMEPRCKEAATHCALLQEHAQRCFVRGLFRSLQQAQSVTCQDLLTAVDACEELLQEIDITSFLLALCGHTWGLPHAPPSPGPLSPGPFSSSIEEGPEPRERAILVSESSIETEDLSEPEFQSSRVSGNLDPGPEISLTDVCQLRGEAHDALHSLIQEKFLEISRLHFRTVPSNPHYFFYCPPSSRREDEGPRDTVDRKISDLEFSEAELVGEEGDTSACCVVTESDPELEVEYRESREPDLGPAGLDSASLSDADTVNPDEDSFSILGGDSPTGPDSLMHDLPPLFLHLTCSVRLRGQHSSVPVCSLPTCLGQVLSSLEGPPIGGRVPLRDLSITLDVFVLTLPLEVELPPASDPQHHRSTSESSASFPRSPGQPSSLRSDDGLGPPLPPPEEERHPGLSSLAMPHRLAIESTMNEIRWLLEDEMVGALRRGGIPQSPALHRAAAHIHSSSGRPTCLRQAPPLSFVFGPERSLTQFKEEFRRLHLPGHVLLEDPDSGFFFVAAGQQPGVLHGEPPSAAWAWHNHEDRAEDAEGEVLTASPQVPGSLEDSEGTPLISLPSLSQGGSQPGPSRGLSLMSSQGSVDSDHLGYDGGSSGSDSEGPGETLGEKALFTLRTPPGPAPPQPSLPVLPGPSLPDFWLIVRILQDRVEVYAHARSLSREDGGPGAECRHLQQFLVRRVGEICREVNQRLLLQDLHDSHVCNSLLVAESEEDLWRSETPFHSRQRAVLPSDDFAADESCAPRGYLAATMQFVPGHFSCDVVWGTVIRVHSRLKMGPSMGVSRAIQALRSVLNAFSVVNRKNMFVYQERATKAVYYLRLLETSCSDRPWEGDTLPPSLALSRSQEPISSEDSVAPRSPLDMASSRSSDAVRPVGQVDRHIQLLVHGVGQAGPEITDELVRVLRRRLDEATLDIITVMLVRNCKLTPADVEFIQPPGSLPSEVLHLVLPPSCRPCLPALAWYLRQNLLTFLHSPKYTDSNSRNHFQHPLPAQGGLPDLDIYLYNKPGGQGTGGKGVACITLAFVEEGGTPISLASWPPSSPGPPDPLREEEFEQLTQVIRCPNTLDSCSAQDGSPRLRLDVWEKGNISIVQLEEKLRAAARQALADAIMELRLLPASLCTEDIPPGSLKSGPLDTKSPACRANTFPCTPVSGEPVTPPSKAGRRSFWDMLSKTEAGDLGSPKTTDDIVLDRPEDTRGRRRHKTENVRTPGGSERAPGPDSGAQRQRRRTTQLEEGEVGTLHPVFARVIQRWMGFMVQIGCASVSRSSTHMVSRFLLPSILSEFTTLVISMAGDTSVRVFEQHLGSEPDVFSPCSPGQLGPAPRPAAQRHLLLLGRNFAQWRRPTQQAAKAVQRFESGGDGSPGRSAPRQRLLLLEVTDKKLQLLTYNWAPDLGAALGRALIRLVQWQNARAHLISCLLSQKLGLFHHCGQLDFPMRDGKEPNPFLLPTMEVETLIRNASPPLSREQGRLSGSSRGGGPLSLDTFPFDEALRDITAARPSSTGGPAPRPPDPVTYHGQQFLEIKMTERKELERQMKMENLFVTWQQRSAPASMPISAGELETLKQSSRLVHYCATALLFDPAAWLHGPPETCAPSEGQRRPCPESGSGSREVPTSCESLDVPPPGAREEPWLKELSLAFLQQYVQYLQSIGFVLVPLRPPSPARSTSRLRAMAILGTEGRGSFSCPKAKAEGSPKSTSTPVTTYHLQRALPGGIILMELTFQGCYFCVKQFALECSRIPMGQAVNSQLSLLFTEECDKVRDLMHVHSFSYDFHLRLVHQHVLGAHLALRHGYHLTTFLQHFLAHHPDGPHFGRNHIYQGTLELPTPLIAAHQLYNYVADHASSYHMKPLRMARPGGPEHNEYALVSAWHSSGSYLDSEGLRHQDDFDVSLLVCHSAAPFEEQGEAERHVLRLQFFVVLTSQRELFPRLTADMRRFRKPSRLPLEPETPGSLVGSPREASGMMLAPGPAPLFPPLAAEVGMARARLAQLVRLAGGHCRRDTLWKRLFLLEPPGPDRLRLGGRLALAELEELLEAVHAKSIADIDPQLDCFLSMTVSWYQSLIKVLLSRFPQSCRHFQSPDLGTQYLVVLNQKFTDCFVLVFLDSHLGKTSLTVVFREPFPVQPQDSESPPAQLVSTYHHLESVINTACFTLWTRLL" } }, { "url": "https://www.uniprot.org/uniprot/A2A9C3#A2A9C3-2", "isoform_ac": "A2A9C3-2", "locus": {}, "sequence": { "header": "sp|A2A9C3-2|SZT2_MOUSE Isoform 2 of KICSTOR complex protein SZT2 OS=Mus musculus OX=10090 GN=Szt2 PE=1 SV=1 CANONICAL=A2A9C3-1", "length": 3430, "sequence": "MASERPEPEVEEAGQVFLLMKKDYRISRNVRLAWFLNHLHQTVQATPQELLLQSEQELEVLSVLPPGWQPDEPVVPRPFLLVPSTRVTFLAWQYRFVIELDLSPSTGIVDDSTGEILFDEVFHALSRCLGGLLRPFRVPGSCINFQPEIYVTIQAYSSIIGLQSHQVLVQGCLLDPSQREAFLQQVYEQLCLFEDKVATMLQQQYEPQGQAEDQSPESGESLGRKVGVSMVTADLGLVSMIRQGILALQLLPSNSSAGIIVITDGVTSVPDVAVCETLLNQLRSGTVACSFVQVGGVYSYDCSFGHVPNVELMKFIAMATFGSYLSTCPETEPGNLGLTVYHRAFLLYSFLRSGEALNPEYYCGSQHRLFNEHLVSASSNPALALRRKKHTEKEVPADLVSTVSVRLREGYSVREVTLAKGGSQLEVKLVLLWKHNMRIEYVAVAPWPLEPEGPRGTRVEVTMEGGYDILHDVSCALRQPIRSLYRTHVIRRFWNTLQSINQTDQMLAHLQSFSSVPEHFTLPDSTKSGVPLFYIPPGSSTPVLSLQHSGSDSSHAQFAAYWKPVLSMDANSWQRWLHMHRLVLILEHDTPLPKHLHTPGSNGRYSTIQCRISHSSLTSLLRDWSSFVLVEGYSYVKLLSSAPDQPPSSFYMVRIISKTPCMVLRLGFPIGTPAQARHKIVSGLKEEILRLRFPHRVQSKEPTPKVKRKGLGGVGGSSPSKSPPTLGPQQALSDRPCLVVLHKPLDKLLIRYEKLPLDYRAPFLLTLEPPGPLPLVSGRSASSSLASLSRYLYHRRWLWSVPSGLAPTLPLSATAQLLSVLTEVRLSEGFHFACSGEGIINMVLELPVQNEPLGQAAAEEKHTCVVQYILFPPHSTSTKDSFSTDDDNDVEVEALEGDSELNLVTEVWVEPQYGRVGPGPENWKHLQDLTYSEIPQALHPRDAACIGSLLTFEYLIQLCQSKEWGPLPPEPRLSDGLDQRGDTCVHEIPFHFDLLGLLPQCQQLQMFFLLLSREPEGVPLAEGPCPTNDMVLCLLHSCLGQELSDREIPLTPADQAAFLNEVLRRSLRDPGPEGPPVGGHAVAKDRAGNSTQASGDSTLPSQSVVIPGVLRSSISAQPPQWHCYARLLGPQHVFLTFLPATFSDVQHLTAYGLESSFQEETKPKLGDWSGAPSLKDPGATGTKATESQVPTLSVTLASDSAQDSGEPSTPSCQDLAANSGRQAPQTEGADGPRTRCPVYIYSCSLEALREQMVGLQPPQAPRDLIFRAQDLDHPSSSSAWMEPRCKEAATHCALLQEHAQRCFVRGLFRSLQQAQSVTCQDLLTAVDACEELLQEIDITSFLLALCGHTWGLPHAPPSPGPLSPGPFSSSIEEGPEPRERAILVSESSIETEDLSEPEFQSSRVSGNLDPGPEISLTDVCQLRGEAHDALHSLIQEKFLEISRLHFRTVPSNPHYFFYCPPSSRREDEGPRDTVDRKISDLEFSEAELVGEEGDTSACCVVTESDPELEVEYRESREPDLGPAGLDSASLSDADTVNPDEDSFSILGGDSPTGPDSLMHDLPPLFLHLTCSVRLRGQHSSVPVCSLPTCLGQVLSSLEGPPIGGRVPLRDLSITLDVFVLTLPLEVELPPASDPQHHRSTSESSASFPRSPGQPSSLRSDDGLGPPLPPPEEERHPGLSSLAMPHRLAIESTMNEIRWLLEDEMVGALRRGGIPQSPALHRAAAHIHSSSGRPTCLRQAPPLSFVFGPERSLTQFKEEFRRLHLPGHVLLEDPDSGFFFVAAGQQPGVLHGEPPSAAWAWHNHEDRAEDAEGEVLTASPQVPGSLEDSEGTPLISLPSLSQGGSQPGPSRGLSLMSSQGSVDSDHLGYDGGSSGSDSEGPGETLGEKALFTLRTPPGPAPPQPSLPVLPGPSLPDFWLIVRILQDRVEVYAHARSLSREDGGPGAECRHLQQFLVRRVGEICREVNQRLLLQDLHDSHVCNSLLVAESEEDLWRSETPFHSRQRAVLPSDDFAADESCAPRGYLAATMQFVPGHFSCDVVWGTVIRVHSRLKMGPSMGVSRAIQALRSVLNAFSVVNRKNMFVYQERATKAVYYLRLLETSCSDRPWEGDTLPPSLALSRSQEPISSEDSAPRSPLDMASSRSSDAVRPVGQVDRHIQLLVHGVGQAGPEITDELVRVLRRRLDEATLDIITVMLVRNCKLTPADVEFIQPPGSLPSEVLHLVLPPSCRPCLPALAWYLRQNLLTFLHSPKYTDSNSRNHFQHPLPAQGGLPDLDIYLYNKPGGQGTGGKGVACITLAFVEEGGTPISLASWPPSSPGPPDPLREEEFEQLTQVIRCPNTLDSCSAQDGSPRLRLDVWEKGNISIVQLEEKLRAAARQALADAIMELRLLPASLCTEDIPPGSLKSGPLDTKSPACRANTFPCTPVSGEPVTPPSKAGRRSFWDMLSKTEAGDLGSPKTTDDIVLDRPEDTRGRRRHKTENVRTPGGSERAPGPDSGAQRQRRRTTQLEEGEVGTLHPVFARVIQRWMGFMVQIGCASVSRSSTHMVSRFLLPSILSEFTTLVISMAGDTSVRVFEQHLGSEPDVFSPCSPGQLGPAPRPAAQRHLLLLGRNFAQWRRPTQQAAKAVQRFESGGDGSPGRSAPRQRLLLLEVTDKKLQLLTYNWAPDLGAALGRALIRLVQWQNARAHLISCLLSQKLGLFHHCGQLDFPMRDGKEPNPFLLPTMEVETLIRNASPPLSREQGRLSGSSRGGGPLSLDTFPFDEALRDITAARPSSTGGPAPRPPDPVTYHGQQFLEIKMTERKELERQMKMENLFVTWQQRSAPASMPISAGELETLKQSSRLVHYCATALLFDPAAWLHGPPETCAPSEGQRRPCPESGSGSREVPTSCESLDVPPPGAREEPWLKELSLAFLQQYVQYLQSIGFVLVPLRPPSPARSTSRLRAMAILGTEGRGSFSCPKAKAEGSPKSTSTPVTTYHLQRALPGGIILMELTFQGCYFCVKQFALECSRIPMGQAVNSQLSLLFTEECDKVRDLMHVHSFSYDFHLRLVHQHVLGAHLALRHGYHLTTFLQHFLAHHPDGPHFGRNHIYQGTLELPTPLIAAHQLYNYVADHASSYHMKPLRMARPGGPEHNEYALVSAWHSSGSYLDSEGLRHQDDFDVSLLVCHSAAPFEEQGEAERHVLRLQFFVVLTSQRELFPRLTADMRRFRKPSRLPLEPETPGSLVGSPREASGMMLAPGPAPLFPPLAAEVGMARARLAQLVRLAGGHCRRDTLWKRLFLLEPPGPDRLRLGGRLALAELEELLEAVHAKSIADIDPQLDCFLSMTVSWYQSLIKVLLSRFPQSCRHFQSPDLGTQYLVVLNQKFTDCFVLVFLDSHLGKTSLTVVFREPFPVQPQDSESPPAQLVSTYHHLESVINTACFTLWTRLL" } }, { "url": "https://www.uniprot.org/uniprot/A2A9C3#V9GXW1-1", "isoform_ac": "V9GXW1-1", "locus": { "end_pos": 118367609, "strand": "+", "start_pos": 118374274, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000183402", "id": "ENSMUST00000183402", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000139348", "id": "ENSMUSP00000139348", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|V9GXW1-1|V9GXW1_MOUSE Computationally mapped isoform of KICSTOR complex protein SZT2 OS=Mus musculus OX=10090 GN=Szt2 PE=1 SV=1 CANONICAL=A2A9C3-1", "length": 559, "sequence": "XEDTRGRRRHKTENVRTPGGSERAPGPDSGAQRQRRRTTQLEEGEVGTLHPVFARVIQRWMGFMVQIGCASVSRSSTHMVSRFLLPSILSEFTTLVISMAGDTSVRVFEQHLGSEPDVFSPCSPGQLGPAPRPAAQRHLLLLGRNFAQWRRPTQQAAKAVQRFESGGDGSPGRSAPRQRLLLLEVTDKKLQLLTYNWAPDLGAALGRALIRLVQWQNARAHLISCLLSQKLGLFHHCGQLDFPMRDGKEPNPFLLPTMEVETLIRNASPPLSREQGRLSGSSRGGGPLSLDTFPFDEALRDITAARPSSTGGPAPRPPDPVTYHGQQFLEIKMTERKELERQMKMENLFVTWQQRSAPASMPISAGELETLKQSSRLVHYCATALLFDPAAWLHGPPETCAPSEGQRRPCPESGSGSREVPTSCESLDVPPPGAREEPWLKELSLAFLQQYVQYLQSIGFVLVPLRPPSPARSTSRLRAMAILGTEGRGSFSCPKAKAEGSPKSTSTPVTTYHLQRALPGGIILMELTFQGCYFCVKQFALECSRIPMGQAVNSQSSAR" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:230676", "resource": "KEGG Pathway", "id": "mmu:230676", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-9639288", "description": "Amino acids regulate mTORC1", "resource": "Reactome", "id": "R-MMU-9639288", "name": "Amino acids regulate mTORC1" } ], "reaction_participants": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3#function", "annotation": "As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids (By similarity). In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose (PubMed:28199306, PubMed:28199315). May play a role in the cellular response to oxidative stress (PubMed:20045724).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3#function", "id": "A2A9C3", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813.3", "annotation": "In mice that lack SZT2, mTORC1 signalling is increased in several tissues, including in neurons in the brain", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813.3", "id": "NP_937813.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813.3", "annotation": "SZT2 has a central role in dictating GATOR-dependent nutrient sensing by promoting lysosomal localization of SZT2-orchestrated GATOR complex, and reveal an unexpected function of lysosome-located GATOR2 in suppressing mTORC1 signalling through SESN recruitment Erratum:[Nature. 2018 May 16;:. PMID: 29769712]", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813.3", "id": "NP_937813.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813.3", "annotation": "While the biological function of Szt2 remains unknown, its high conservation, unique structure and effect on seizure threshold suggest that it serves an important role in the central nervous system.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813.3", "id": "NP_937813.3", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZUQ8-1", "protein_name": "SZT2 subunit of KICSTOR complex", "sequence": { "length": 3430, "sequence": "MASERPEPEVEEAGQVFLLMKKDYRISRNVRLAWFLNHLHQTVQAIPQESLLQSEQELEVLSVLPPGWQPDEPVVPRPFLLVPSTRVTFLAWQYRFVIELDLSPSTGIVDDSTGEILFDEVFHALSRCLGGLLRPFRVPGSCIDFQPEIYVTIQAYSSIIGLQSHQVLVQGCLLDPSRREAFLQQVYEQLCLFEEKVATMLQQQHEPQSQAEDQSPESGESLGRKVGVSMVTADLGLVSMIRQGILALQLLPSNSSAGIIVITDGVTSVPDVAVCETLLNQLRSGTVACSFVQVGGVYSYDCSFGHVPNVELMKFIAMATFGSYLSTCPEPEPGNLGLTVYHRAFLLYSFLRSGEALNPEYYCGSQHRLFNEHLVSASSNPALALRRKKHTEKEVPADLVSTVSVRLREGYSVREVTLAKGSQLEVKLVLLWKHNMRIEYVAVAPWPLEPEGPRGTRVEVTMEGGYDILHDVSCALRQPIRSLYRTHVIRRFWNTLQSINQTDQMLAHLQAFSSVPEHFTLPDSTKSGVPLFYIPPGSGTPVLSLQHSGSDSSHAQFAAYWKPVLSMDANSWQRWLHMHRLVLILEHDTPLPKHLHTPGSNGRYSTIQCRISHSSLTSLLRDWSSFVLVEGYSYVKLLSSAPDQPPSSFYMVRIISKAPCMVLRLGFPIGTPAQARHKIVSGLQEEILRLRFPHRVQSKEPTPKVKRKGLGGVGGSSPSKSPPTLGPQQALSDRPCLVVLHKPLDKLLIRYEKLPLDYRAPFLLTLEPPGPLPLVSGRSASSSLASLSRYLYHRRWLWSVPSGLAPTLPLSAIAQLLSVLTEVRLSEGFHFACSGEGIINMVLELPVQNDPLGQAAAEEKHTCVVQYILFPPHSTSTKDSFSTDDDNDVEVEALEGDSELNLVTEVWVEPQYGRVGPGPESWKHLQDLTYSEIPQALHPRDAACIGSLLTFEYLIQLCQSKEWGPLPPEPQVSDGLDQRGDTCVHEIPFRFDLLGLLPQCQQLQMFFLLLSREPEGVPLTEGPCPTNDMVLCLLHSCLGQELSDREIPLTTADQTAFLNEVLRRSSLDPGPEGALVGGHAIPKDQAGNRTQATGDSTLPTQSVGIPGIPRSSISAQPPQWHCYARLLSPQHVFLTFLPATFSDVQHLTAYGLVGSSQEETKPKLGDWSGAPSLKDLGAAGTRAPKSQVPILSVTLASDSTQNPGEPSPPSCRDFPANSGRQAPQTEGADGPRTRCPVYIYSCSLEALREQMVGLQPPQAPRDLIFRTQDLDHPSSSSAWMEPRYKEAATHCALLQEHAQRCFVRGLFRSLQQAQSVTCQDLLTAVDACEELLQEVDITSFLLALCGHTWGLPHAPPSPGPLSPGPFSSSIEEGPEPRERAILVSESSIETEDLSEPEFQSTRVPGNSDPGPEISLTDVCQLRGEAHDALHSLIQEKFLEISRLHFRTVPSNPHYFFYCPPSSRREDEGPRDTVDRKVSDLEFSEAELVGEEGDTSACCVVTESDPELEVEYRESREPDLGPAGLDSASLSDADTVNPDEDSFSILGGDSPTGPDSLMHDLPPLFLHLTCSVRLRGQHSSVPVCSLPTCLGQVLSSLEGPPVGGRVPLRDLSITLDVFVLTLPLEVELPPASDPQHHRSTSESSASFPRSPGQPSSLRSDDGLGPPLPPPEEERHPGLSSLATPHRLAIESTMSEIRWLLEDEMVGALRRGGIPQSPALHRAAAHIHSSSGRSTCLRQAPPLSFVFGPERSLTQFKEEFRRLHLPGHVLLEDPDSGFFFVAVGQQPGGLHGEPPSSAWAWHNHEDRAEDAEGEVLTASPQVPGSLEDSECTPLISLPSLSQGGSQPGPSRGLSLMSSQGSVDSDHLGYDGGSSGSDSEGPGETLGEKALFTLRTPPGPAPPQPSLSVLPGPSLPDFWLIVRILQDRVEVYAHARSLNREDGGPGTECRHLQQLLVRCVGEICREVNQRLLLQDLHDSHVCNSLLVAESEEDLWRSEMPFHSRQRVVLPSDDYAADESCAPRGYLAATMQFVPGHFSCDVVWGTVIRVHSRLKMGPSMGVSRAIQALRSVLNAFSVVNRKNMFVYQERATKAVYYLRLLETSCSDRPWEGDTLTPSLALSRSQEPIYSEDSAAPRSPLDMASSRSSDAVRPVGQVDRHIQLLVHGVGQAGPEITDELVRVLRRRLDEATLDIITVMLVRNCKLTPADVEFIQPPGSLPSEVLHLVLPPSCRPWLPALAWYLRQNLLTFLHSPKYTDSNSRNHFQHPLPAQGGLPDLDIYLYNKPGGQGTGGKGVACITLAFVEEGGAPISLASWPPSSPGPPGPLQEEEFEQLTQVIRCPNTPDNSQAQDGSPQLRLDVWEKGNISIVQLEEKLRAAARQALADAIMELRLLPASLCTEDIPPGSLKSGPLETKSPACRASTFPSTPVSGEPVTPPSKAGRRSFWDMLSKTEAGDLGSPKTTDDIVLDRPEDTRGRRRHKTENVRTPGGSERAPGSDSGAQRQRRRTTQLEEGEVGTLHPVFAHVIQRWMGFMVQIGCASVSRSSTHMVSRFLLPSILSEFTTLVISMAGDTSVRVFEQHLGSEPGLFSPCFPGQLGPAPRPAAERHLLLLGRNFAQWRRPTQQAAKAVQRFEAGGDGSPGRGAPRQRLLLLEVTDKKLQLLTYNWAPDLGAALGRALIRLAQWQNARAHLISCLLSQKLGLFHHCGQLDFPVRDGKEPNPFLLPTMEVETLIRNASPPLSREQGRLSGSSRGGGSLSLDTFPFDEALRDITAARPSSTGGPAPRPPDPVTYHGQQFLEIKMTERKELERQMKMENLFVTWQQRSAPASMPISAGELETLKQSSRLVHYCATALLFDPAAWLHGPPETSAPSEGQRRLRPESGSGGRELPTSCESSDVPPPGAREEPWLKELSLAFLQQYVQYLQSIGFVLVPLRPPSPARSTSRLRAMAVLGTEGRGSFSCPKAKTEGSPKSTSTPVTTYHLQRALPGGIILMELTFQGCYFCVKQFALECSRIPMGQAVNSQLSLLFTEECDKVRDLMHVHSFSYDFHLRLVHQHVLGAHLVLRHGYHLTTFLQHFLAHHPDGPHFGRNHIYQGTLELPTPLIAAHQLYNYVADHASSYHMKPLRMARPGGLEHNEYALVSAWHSSGSYLDSEGLRHQDDFDVSLLVCHSAAPFEEQGEAERHVLRLQFFVVLTSQRELFPRLTADMRRFRKPSRLSLEPEAPGSLVGSPGEASGIMLAPGPAPLFPPLAAEVGMARARLAQLVRLAGGHCRRDTLWKRLFLLEPPGPDRLRLGGRLALAELEELLEAVHAKSIADIDPQLDCFLSMTVSWYQSLIKVLLSRFPQSCRHFQSPDLGTQYLVVLNQKFTDCFVLVFLDSHLGKTSLTVVFREPFPVQPQESESPPAQLVSTYHHLESVINTACFTLWTRLL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2A9C3/", "id": "A2A9C3", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Szt2", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q5T011-1", "protein_name": "KICSTOR complex protein SZT2", "sequence": { "length": 3432, "sequence": "MASERPEPEVEEAGQVFLLMKKDYRISRNVRLAWFLSHLHQTVQATPQEMLLQSEQELEVLSVLPPGWQPDEPVVPRPFLLVPSTRVTFLAWQYRFVIELDLSPSTGIVDDSTGEILFDEVFHALSRCLGGLLRPFRVPGSCIDFQPEIYVTIQAYSSIIGLQSHQVLVQGCLLDPSQREVFLQQIYEQLCLFEDKVATMLQQQYDPQSQAEDQSPDSGDLLGRKVGVSMVTADLGLVSMIRQGILALQLLPSNSSAGIIVITDGVTSVPDVAVCETLLNQLRSGTVACSFVQVGGVYSYDCSFGHVPNVELMKFIAMATFGSYLSTCPEPEPGNLGLTVYHRAFLLYSFLRSGEALNPEYYCGSQHRLFNEHLVSASSNPALALRRKKHTEKEVPADLVSTVSVRLREGYSVREVTLAKGGSQLEVKLVLLWKHNMRIEYVAMAPWPLEPEGPRVTRVEVTMEGGYDILHDVSCALRQPIRSLYRTHVIRRFWNTLQSINQTDQMLAHLQSFSSVPEHFTLPDSTKSGVPLFYIPPGSTTPVLSLQPSGSDSSHAQFAAYWKPVLSMDANSWQRWLHMHRLVLILEHDTPIPKHLHTPGSNGRYSTIQCRISHSSLTSLLRDWSSFVLVEGYSYVKLLSSAPDQPPNSFYMVRIISKAPCMVLRLGFPIGTPAPARHKIVSGLREEILRLRFPHRVQSKEPTPKVKRKGLGGAGGGSSPSKSPPVLGPQQALSDRPCLVVLHKPLDKLLIRYEKLPLDYRAPFLLTLEPPGPLPLVSGRSASSSLASLSRYLYHQRWLWSVPSGLAPALPLSAIAQLLSILTEVRLSEGFHFACSGEGIINMVLELPIQNEPPGQAAAEEKHTCVVQYILFPPHSTSTKDSFSTDDDNDVEVEALEGDSELNLVTEVWVEPQYGRVGPGPGIWKHLQDLTYSEIPQALHPRDAACIGSMLSFEYLIQLCQSKEWGPLPPEPRVSDGLDQGGDTCVHEIPFHFDLMGLLPQCQQLQMFFLLLAREPEGVPFAEGSCPANDMVLCLLHSCLGQELSDREIPLTPVDQAAFLSEVLRRTCHVPGAEGPLLGVHGIPKEQAVGSTQATGDSAFTSLSVGLPETLKPLISAQPPQWRCYARLVNPQHVFLTFLPATFSDVQRLAACGLEGPPQEETKPKFGDWSGAPSLKDLGGTGIKATKSHVPVLSVTLASDNAQNQGELSPPFRRDLQAYAGRQASQTESADGPRTRCPVYIYSCSLEALREQMVGMQPPQAPRDLIFRTQFLDHPSPSSAWMEPRYKEAANHCALLQEHAQRCYVRGLFRSLQQAQSVTSQDLLTAVDACEELLQEIDITPFLLALCGHTWGLPHAPPSPGPLSPGPFSSSMEEGAEPRERAILASESSIETEDLSEPEFQSTRVPGIPDPGPEISLTDVCQLRGEAHGALHSVIQEKFLEISRLHFRTVPSNPHYFFYCPPSSRREDEGPRDTVDRKISDLEFSEAELMGEEGDTSACCVVTESDPELEVEYRESRESDLGPAGLDSASLSDVDTVNPDEDSFSILGGDSPTGPESFLHDLPPLFLHLTCSVRLRGQHSSVPVCSLPTCLGQVLSSLEGPPVGGRVPLRDLSVTLDVFMLTLPLEVELPTASDPQHHRSTSESSASFPRSPGQPSSLRSDDGLGPPLPPPEEERHPGLSNLATPHRLAIETTMNEIRWLLEDEMVGALRRGGIPQSPALHRAAAHIHSSPGRSTCLRQTLPLSFVFGPERSLTQFKEEFRRLHLPGHVLLEDPDSGFFFVAAGQQPGGSHGEPSSAAWAWHSHEDRAEGIEGETLTASPQAPGSPEDSEGVPLISLPRVPQGGSQPGPSRGLSLMSSQGSVDSDHLGYDGGSSGSDSEGPNDTLGEKAPFTLRTPPGPAPPQPSLSGLPGPCLPDFWLIVRVLQDRVEVYAHARSLIREDGGPGTECRHLQQLLVRRVGEICREVNQRLLLQDLHDSHVCNSLLVAESEEDLWRSETPFHSRQRAPLPSDDYAADESCAPRGYLAATMQFVPGHFSCDVVWGTVIRVHSRLKMGPSMGVSRAIQALRSVLNAFSVVNRKNMFVYQERATKAVYYLRLLETSCSDRPWKGDALPPSLALSRSQEPIYSEEASGPRSPLDMVSSRSSDAARPVGQVDRHIQLLVHGVGQAGPEITDELVRVLCRRLDEATLDVITVMLVRNCKLTPADVEFIQPPGSLPSEVLHLALPTSCRPWLPALAWYLRQNLLIFLHSPKYTDSNSRNHFQHPLPPQGGLPDLDIYLYNKPGGQGTGGKGVACITLAFVDEGGAPLSLALWPPSSPGPPDPLREEEFEQLTQVIRCPVVVDSSSAQNGAPRLRLDVWEKGNISIVQLEEKLRGAARQALADAIIELQLLPASLCTEDTPTGSLRNGSLETKSSAGRASTFPPAPVPGEPVTPPSKAGRRSFWDMLSKTECGDLGSPKTTDDIVLDRPEDTRGRRRHKTESVRTPGGAERAPGSDSGAQRQKRRTTQLEEGEVGTLHPVFARVAQRWMEFMVQIGCASVSRSSAHMVSRFLLPSILSEFTALVTSMAGDTSVRIFEQHLGSEPEIFGPCSPGQLGPSPRPAAERHLLLLGRNFLQWRRPTQQAAKAMQRFEPGGDGSSGRNAPRQRLLLLEVVDKKLQLLTYNWAPDLGAALGRALVRLVQWQNARAHLIFCLLSQKLGLFHHYGQLDFPVRDEKEPNPFLLPTMEVETLIRSASPPLSREQGRLSGSSRGGGPLPLDTFPFDEALRDITAARPSSVLGPVPRPPDPVTYHGQQFLEIKMAERRELERQMKMENLFVTWQQRSTPATMPISAGELETLKQSSRLVHYCATAMLFDPAAWLHGPPETSGPPDGQRRHRPESGSGSREAPTSCESLDVSPPGAREEPWLKELSLAFLQQYVQYLQSIGFVLVPLRPPSPARSTSRPRAMAILGTEGRGSFSCPKTKTDGSPKSTSSPVTTYHLQRALPGGIILMELAFQGCYFCVKQFALECSRIPMGQAVNSQLSMLFTEECDKVRDLMHVHSFSYDFHLRLVHQHVLGAHLVLRHGYHLTTFLRHFLAHHPDGPHFGRNHIYQGTLELPTPLIAAHQLYNYVADHASSYHMKPLRMARPGGPEHNEYALVSAWHSSGSYLDSEGLRHQDDFDVSLLVCHCAAPFEEQGEAERHVLRLQFFVVLTSQRELFPRLTADMRRFRKPPRLPPEPEAPGSSAGSPGEASGLILAPGPAPLFPPLAAEVGMARARLAQLVRLAGGHCRRDTLWKRLFLLEPPGPDRLRLGGRLALAELEELLEAVHAKSIGDIDPQLDCFLSMTVSWYQSLIKVLLSRFPQSCRHFQSPDLGTQYLVVLNQKFTDCFVLVFLDSHLGKTSLTVVFREPFPVQPQDSESPPAQLVSTYHHLESVINTACFTLWTRLL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/49413", "id": "49413", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2A9C3/", "id": "A2A9C3", "database": "OMA" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "SZT2", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813.3", "ac": "NP_937813.3", "name": "KICSTOR complex protein SZT2", "summary": "This gene encodes a protein associated with low seizure threshold in mice and may contribute to susceptibility to epilepsy. [provided by RefSeq, Aug 2011]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "name": "peroxisome", "id": "GO:0005777" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "pmid": "20045724", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "name": "peroxisome", "id": "GO:0005777" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140007", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "name": "KICSTOR complex", "id": "GO:0140007" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "name": "lysosomal membrane", "id": "GO:0005765" 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nutrient levels", "id": "GO:0031667" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "pmid": "19624305", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "name": "central nervous system development", "id": "GO:0007417" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "pmid": "19624305", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "name": "post-embryonic development", "id": "GO:0009791" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "pmid": "19624305", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "name": "pigmentation", "id": "GO:0043473" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "pmid": "28199315", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "name": "negative regulation of 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"corpus callosum morphogenesis", "id": "GO:0021540" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061462", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "name": "protein localization to lysosome", "id": "GO:0061462" } ], "total": 11, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 1091, "annotation": "n_glycosylation_sequon", "start_pos": 1089 }, { "end_pos": 2365, "annotation": "n_glycosylation_sequon", "start_pos": 2363 }, { "end_pos": 256, "annotation": "n_glycosylation_sequon", "start_pos": 254 }, { "end_pos": 2736, "annotation": "n_glycosylation_sequon", "start_pos": 2734 }, { "end_pos": 503, "annotation": "n_glycosylation_sequon", "start_pos": 501 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000033253", "id": "ENSMUSG00000033253", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/230676", "id": "230676", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR033228", "id": "IPR033228", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:230676", "id": "mmu:230676", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:3033336", "id": "3033336", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/CPPSAKK/", "id": "CPPSAKK", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=347778at2759", "id": "347778at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14918", "id": "PTHR14918", "database": "PANTHER" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2A9C3", "id": "PR_A2A9C3", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-9639288", "id": "R-MMU-9639288", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813", "id": "NP_937813", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937813.3", "id": "NP_937813.3", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2A9C3-1", "id": "A2A9C3-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2A9C3-2", "id": "A2A9C3-2", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/V9GXW1", "id": "V9GXW1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/V9GXW1-1", "id": "V9GXW1-1", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "disease_id": "DOID:0080413", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0014201", "resource": "MONDO", "description": "", "name": "early infantile epileptic encephalopathy without suppression burst", "id": "MONDO:0014201" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014201", "resource": "MONDO", "description": "", "name": "epileptic encephalopathy, early infantile, 18; EIEE18", "id": "MONDO:0014201" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014201", "resource": "MONDO", "description": "", "name": "epileptic encephalopathy, early infantile, type 18", "id": "MONDO:0014201" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014201", "resource": "MONDO", "description": "", "name": "EIEE18", "id": "MONDO:0014201" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014201", "resource": "MONDO", "description": "", "name": "epileptic encephalopathy, early infantile, 18", "id": "MONDO:0014201" }, { "url": "https://www.omim.org/entry/615476", "resource": "MIM", "description": "Epileptic encephalopathy, early infantile, 18", "name": "Epileptic encephalopathy, early infantile, 18", "id": "MIM:615476" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0080413", "resource": "Disease Ontology", "description": "An early infantile epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.", "name": "early infantile epileptic encephalopathy 18", "id": "DOID:0080413" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0080413#disease-associations", "id": "0080413", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [ { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "start_pos": 1275, "end_pos": 1275, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "start_pos": 1415, "end_pos": 1415, "kinase_uniprot_canonical_ac": "" }, { "residue": "Thr", "comment": "Phosphothreonine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "start_pos": 1640, "end_pos": 1640, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "id": "A2A9C3", "database": "UniProtKB" } ], "start_pos": 1650, "end_pos": 1650, "kinase_uniprot_canonical_ac": "" } ], "mass": { "monoisotopic_mass": 377627.0, "chemical_mass": 377627.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2A9C3", "name": "Szt2", "locus": { "end_pos": 118362743, "strand": "-", "start_pos": 118409273, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000033253", "id": "ENSMUSG00000033253", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A9C3", "type": "synonym", "resource": "RefSeq", "name": "KICSTOR complex protein SZT2" }, { "url": "https://www.uniprot.org/uniprot/A2A9C3#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "KICSTOR complex protein SZT2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A9C3", "type": "synonym", "resource": "RefSeq", "name": "Seizure threshold 2 protein; Transcript increased in glutamate resistance; seaizure threshold 2" }, { "url": "https://www.uniprot.org/uniprot/A2A9C3#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Seizure threshold 2 protein" }, { "url": "https://www.uniprot.org/uniprot/A2A9C3#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "TIGR" }, { "url": "https://www.uniprot.org/uniprot/A2A9C3#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Transcript increased in glutamate resistance" } ] }