LYST_BOVIN
ID LYST_BOVIN Reviewed; 3796 AA.
AC Q9TTK4; O97699;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 29-SEP-2021, entry version 119.
DE RecName: Full=Lysosomal-trafficking regulator;
GN Name=LYST;
OS Bos taurus (Bovine).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae;
OC Bovinae; Bos.
OX NCBI_TaxID=9913;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT CHS ARG-2015.
RC TISSUE=Brain;
RX PubMed=10594238; DOI=10.1007/s003359901181;
RA Kunieda T., Nakagiri M., Takami M., Ide H., Ogawa H.;
RT "Cloning of bovine LYST gene and identification of a missense mutation
RT associated with Chediak-Higashi syndrome of cattle.";
RL Mamm. Genome 10:1146-1149(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=10690356; DOI=10.1046/j.1365-2052.2000.00586.x;
RA Yamakuchi H., Agaba M., Hirano T., Hara K., Todoroki J., Mizoshita K.,
RA Kubota C., Tabara N., Sugimoto Y.;
RT "Chediak-Higashi syndrome mutation and genetic testing in Japanese black
RT cattle (Wagyu).";
RL Anim. Genet. 31:13-19(2000).
CC -!- FUNCTION: May be required for sorting endosomal resident proteins into
CC late multivesicular endosomes by a mechanism involving microtubules.
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with CENPJ, LIP8 and ZNF521. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
CC -!- DISEASE: Note=Defects in LYST are the cause of Chediak-Higashi syndrome
CC of cattle (CHS) CHS is an autosomal recessive bleeding disorder with
CC light coat color which has been reported in a population of Japanese
CC black cattle.
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DR EMBL; AB026620; BAA77267.1; -; mRNA.
DR EMBL; AF114785; AAD13618.1; -; mRNA.
DR PIR; T18514; T18514.
DR RefSeq; NP_776445.1; NM_174020.2.
DR SMR; Q9TTK4; -.
DR STRING; 9913.ENSBTAP00000022355; -.
DR PaxDb; Q9TTK4; -.
DR PRIDE; Q9TTK4; -.
DR GeneID; 281072; -.
DR KEGG; bta:281072; -.
DR CTD; 1130; -.
DR eggNOG; KOG1786; Eukaryota.
DR InParanoid; Q9TTK4; -.
DR OrthoDB; 101142at2759; -.
DR Proteomes; UP000009136; Unplaced.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0015630; C:microtubule cytoskeleton; ISS:UniProtKB.
DR GO; GO:0032510; P:endosome to lysosome transport via multivesicular body sorting pathway; ISS:UniProtKB.
DR GO; GO:0007040; P:lysosome organization; IEA:InterPro.
DR GO; GO:0042267; P:natural killer cell mediated cytotoxicity; ISS:UniProtKB.
DR GO; GO:0043473; P:pigmentation; ISS:UniProtKB.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR CDD; cd06071; Beach; 1.
DR CDD; cd01201; PH_BEACH; 1.
DR Gene3D; 1.10.1540.10; -; 1.
DR Gene3D; 2.130.10.10; -; 2.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR000409; BEACH_dom.
DR InterPro; IPR036372; BEACH_dom_sf.
DR InterPro; IPR030464; LYST.
DR InterPro; IPR023362; PH-BEACH_dom.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR13743:SF86; PTHR13743:SF86; 1.
DR Pfam; PF02138; Beach; 1.
DR Pfam; PF14844; PH_BEACH; 1.
DR SMART; SM01026; Beach; 1.
DR SMART; SM00320; WD40; 4.
DR SUPFAM; SSF50978; SSF50978; 1.
DR SUPFAM; SSF81837; SSF81837; 1.
DR PROSITE; PS50197; BEACH; 1.
DR PROSITE; PS51783; PH_BEACH; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Disease variant; Phosphoprotein; Protein transport;
KW Reference proteome; Repeat; Transport; WD repeat.
FT CHAIN 1..3796
FT /note="Lysosomal-trafficking regulator"
FT /id="PRO_0000244622"
FT REPEAT 662..700
FT /note="WD 1"
FT REPEAT 1577..1621
FT /note="WD 2"
FT DOMAIN 3004..3110
FT /note="BEACH-type PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01119"
FT DOMAIN 3115..3417
FT /note="BEACH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00026"
FT REPEAT 3558..3597
FT /note="WD 3"
FT REPEAT 3609..3648
FT /note="WD 4"
FT REPEAT 3651..3694
FT /note="WD 5"
FT REPEAT 3695..3739
FT /note="WD 6"
FT REPEAT 3744..3783
FT /note="WD 7"
FT REGION 143..170
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1178..1201
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 164
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P97412"
FT MOD_RES 165
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P97412"
FT MOD_RES 166
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P97412"
FT MOD_RES 1504
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P97412"
FT MOD_RES 1505
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P97412"
FT MOD_RES 2100
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99698"
FT MOD_RES 2119
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99698"
FT MOD_RES 2208
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P97412"
FT MOD_RES 2212
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P97412"
FT MOD_RES 2259
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P97412"
FT VARIANT 2015
FT /note="H -> R (in CHS)"
FT /evidence="ECO:0000269|PubMed:10594238"
FT CONFLICT 1062
FT /note="R -> K (in Ref. 2; AAD13618)"
FT /evidence="ECO:0000305"
FT CONFLICT 1434
FT /note="K -> I (in Ref. 2; AAD13618)"
FT /evidence="ECO:0000305"
FT CONFLICT 2060
FT /note="V -> G (in Ref. 2; AAD13618)"
FT /evidence="ECO:0000305"
FT CONFLICT 3396
FT /note="E -> R (in Ref. 2; AAD13618)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 3796 AA; 428601 MW; 4AC00E9928E882B7 CRC64;
MSTDSNSLAR EFLTDVNRLC NAVVQRVEAR EEEEEETHMA TLGQYLVHGR GFLLLTKLNS
IIDQALTCRE ELLTLLLSLL PLVWKIPVQE EKATDFNLPF SAGIILTKEK NSSSQRSTQE
KLYLEGSAPA GQVSAKVNVF RKSRRQRKTT HRYSVRDARK TQLSTSDSEV NSDDKSIVMT
KYRRSHVLQH FVKQCPKEDH LTAKLNHLST KEQTPPDTMA LENSREIIPR EESNTDILSE
PAALSTISHM NNSPFDLCHV LLSLLEKVCK FDITLNHNSA LAASVVPTLT EFLAGFGDCC
NLSDNLEGQM VSAGWTEEPV ALIQRMLFRT VLHLMSVDIS MAEVMPENLR KNLTELLRAA
LKIRTFLEKQ PDPFAPRQKK TLQEVQDDFV FSKYCHRVLL LPELLEGVLQ ILICCLQSAA
SNPFFFSQAM DLVQEFIQHH GFHLFETAVL QMEWLVVRDG VPPEASGHLK ALINNVMKIM
STVKKVKSEQ LHHSMCTRKR HRRCEYSHFM HHHRDLSGLL VSAFKNQVSK NPFEETADGD
VYYPERCCCI AVCAHQCLRL LQQASLSSTC VQILSGVQNI GICCCMDPKS VIVPLLHAFK
LPALKSCQQH ILNILNKLIL DQLGGAEIPQ KTKKAACNIC TVDSDQLAKL EETLQGSSYN
AEPSSGLSSP SYRFQGILPS SGSEDLLWKW DALEAYQNFV FEEDRLQSVQ IANHICSLIQ
KGNVVVQWKL YNCIFNPVLQ RGVELAHHCQ QLSISSAQTH VCSHHNQCLP QEVLQIYLKT
LPTLLKSRVI RDLFLSCNGV NQIIELNYLD GIRNHSLKAF ETLIISLGEQ QKDSSIPGID
GIDLEQKELS SLNVGTLYNQ QAYSDSQSLS KFYARLKDAY PKKRKSVVQD IHISTINLFL
CVAFLCVSKE AESDRESAND SEDTSGYDST ASEPLQHMLP CFSLESLVLP SPRHMHQAAD
VWSMCRWIYM LSPIFRKQFY RLGGFQVCHK LIFMVIQDLF RNPEEEQGRK EGDRTMNENQ
DLNRISQPEI TVKEDLLSLT VKIDPTPTEL SSLKKSADSL GRLESEHLSS INVEQIPAVE
AVPEETKVFM SRESETLLQG IRLLEALLAI CLHGTRASQQ KLELELPNQN LSVETILLEM
RDHLSKSKVT ETELAKPLFD ALLRVALGNH SADFEHDDAM TEKSHQSEEE LSSQPGDFSE
EAEDSQCCSF KLLVEEEGYE ADSESNPEDS ETWDDGVDLK PEAESFIASS SPNDLLENLS
QGEIIYPEIC TLELNLLSTG KAKLDVLAHV FESFLKIIRQ KEKNIFLLMQ QGTVKNLLGG
FLSILTQTDS DFQACQRVLV DLLVSLMSSR TCSEELTLLL RIFLEKSPCT EILLLGILKI
VESDITMSPS QYLTFPLLHT PNLSNGVSSQ KCPGILNSKA MGLLRRARVS QSKKEGDSES
FPQQLLSSWH IAPVHLPLLG QPHLSEGFSI SLWFNVECIH EPESTTEKGK KTRKRNKSLV
LLDSSFDGTE NNRLEGAAYV NPGERLIEEG CVHMISLGSK ALIIQVWADP HTGTFIFRVC
MDSNDDTKVV LLAQVESQEN IFLPSKWQHL VLTYLQQPQG KKNIHGKISI WISGQRKPDV
TLDFMLPRKT SLSSDSNKTF CMIGHCLSSQ EESLQLAGKW DLGNLLLFNG AKIGSQEAFY
LYACGPNHTS IMPCKYGKPV NDYSKYINTE ILQCEQIREL FMTSKDVDIG LLIESLSVVY
TTYCPAQYTI YEPVIRLKGQ MKTQLSQRPF SSKEVHNILL EPHHLKNLQP TECKTLQGIL
HEIGGTGIFV FLFARVVELS SCEETQALAL RVILSLIKYN QQRIHELENC NGLSMIHQVL
IKQKCIVGFH ILKTLLEGCC GEDIIHINEN GELKLDVESN AIIQDVKLLE ELLLDWKIWN
KAEHGVWETL LAALEVLIRA DHQQQMFNIK QLLKARVVHH FLLTCQVLQE HKEGQLISMP
QEVCRSFVKI TAEVLGSPPD LELLTIIFNF LLAVHPPTNT YVCHNPTNFY FSLHIDGKIF
QEKVQSIMYL RHSSSGGKSV TSPGFMIISP SDFTASPPEG NNSSSAVPKQ VTASMLRSRS
LPAFPTASPH IKPRKLTGSL GCSIDKLQSF VDDGVASQPE KWSPLRSSET LEKSKQDAFI
SSCESAKMVC ETEPALLAQA SVSDIPKGAL ELPAVNIDHK DFGAEPRSDD DSPGDESCPR
RPLYLKGLAS FQRSHSTIAS LGLAFPSQNG SAAVGRWPSL VDRNADDWEN FALSLGYEPH
HSRTAGAHSV TEDCLVPICC GLYELLSGVL LILPDVMLED VMDRLIQADT LLVLVNHPSP
AVQQEVIKLL DAYFNRASKE QKDKFLKNRG FSLLANQLYL HRGTQELLEC FIEMFFGRRI
GLDEEFDLED VKNMGLFQKW SVIPILGLIE TSLYDNVLLH NALLLLLQIL NSCSKVADML
LDNGLLYVLC NTVATLNGLE KIIPLNEYRL LACDIQQLFI AVTIHACSSS GSQYFRVIED
LIVLLGYLQN SKNKRTQNMA VALQFRVLQA AMEFIRTTAN HDSENLTDSL QSPSVPHHTM
FQKRKSIAGP RKFLLAQTDS LLMKMRSVAS DELHVMMQRR MSQENPVQAT ETELAQRLQR
LTVFAVNRIV YQEFNPDIID ILSTPESTTQ SRTSASQTEI SEENIHHEQP SVFNPFQKEM
FMYLVEGFKV SSASGKTSSS KQQWAKILWS CKETFRMQLG RLLVHMLSPA HPSQERKQIF
EIVREPNHQE ILRECLSPSL QHGAKLVLYL SELIHNHKDE LTEEELDTAE LLMNALKLCG
HKCIPPSAST KSDLIRVIKE EQRKYETEEG VNKANWQKTV NNNQQSLFQR LDSKSKDISK
IAADITQAVS LSQGIERKKV IQHIRGMYKV DLSASRHWQE LIQQLTHDRA VWYDPIYYPT
SWQLDPTEGP NRERRRLQRC YLTIPNKYLL RDRQKSEDVV KPPLSYLFED KTHSSFSSTV
KDKAASESIR VNRRCISVAP SRETAGELLL GKCGMYFVED NASDTVECSN LQGELEPASF
SWTYEEIKEV HKRWWQLRDN AVEIFLTNGR TLLLAFDNTK VRNDVYHSIL TNNLPNLLEY
GNITALTHLW YTGQITNFEY LTHLNKHAGR SFNDLMQYPV FPFILADYVS ETLDLSDPSV
YRNLSKPIAV QYKEKEDRYV DTYKYLEEEY RKGAREDDPM PPVQPYHYGS HYSNSGTVLH
FLVRMPPFTK MFLAYQDQSF DIPDRTFHST NTTWRLSSFE SMTDVKELIP EFFYLPEFLV
NREGFDFGVR QNGERVNHVN LPPWARNDPR LFILIHRQAL ESDYVSQNIC QWIDLVFGYK
QKGKASVQAI NVFHPATYFG MDVSAVEDPV QRRALETMIK TYGQTPRQLF QSAHASRPGS
KLNIEGELPA AVGLLVQFAF RETREQVKEI TYPSPLSWIK GLKWGEYVGS PSAPVPVVCF
SQPHGERFGS LQALPTRAIC GLSRNFCLLM TYSKEQGVRS MNSTDIQWSA ILSWGYADNI
LRLKSKQSEP PINFIQSSQQ YQVTSCAWVP DSCQLFTGSK CGVITAYSNR FTSGTPSEIE
MESQIHLYGH TEEISSLFVC KPYSIMISVS RDGTCIIWDL NRLCYVQSLA GHKSPVTAVS
ASETTGDIAT VCDSAGGGSD LRLWTVNGDL VGHVHCREII CSVAFSNQPE GISINVIAGG
LENGIVRLWS TWDLKPVREI TFPKSNKPIV SLTFSCDGHH LYTANSDGTV IAWCRKDQQR
LKHPMFYSFL SSYAAG