ALMS1
ALMS1 (англ. ALMS1, centrosome and basal body associated protein) – білок, який кодується однойменним геном, розташованим у людей на 2-й хромосомі.[3] Довжина поліпептидного ланцюга білка становить 4 167 амінокислот, а молекулярна маса — 460 965[4]. При мутаціях цього гена може розвинутися синдром Алстрема.
Послідовність амінокислот
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MEPEDLPWPG | ELEEEEEEEE | EEEEEEEEAA | AAAAANVDDV | VVVEEVEEEA | ||||
| GRELDSDSHY | GPQHLESIDD | EEDEEAKAWL | QAHPGRILPP | LSPPQHRYSE | ||||
| GERTSLEKIV | PLTCHVWQQI | VYQGNSRTQI | SDTNVVCLET | TAQRGSGDDQ | ||||
| KTESWHCLPQ | EMDSSQTLDT | SQTRFNVRTE | DTEVTDFPSL | EEGILTQSEN | ||||
| QVKEPNRDLF | CSPLLVIQDS | FASPDLPLLT | CLTQDQEFAP | DSLFHQSELS | ||||
| FAPLRGIPDK | SEDTEWSSRP | SEVSEALFQA | TAEVASDLAS | SRFSVSQHPL | ||||
| IGSTAVGSQC | PFLPSEQGNN | EETISSVDEL | KIPKDCDRYD | DLCSYMSWKT | ||||
| RKDTQWPENN | LADKDQVSVA | TSFDITDENI | ATKRSDHFDA | ARSYGQYWTQ | ||||
| EDSSKQAETY | LTKGLQGKVE | SDVITLDGLN | ENAVVCSERV | AELQRKPTRE | ||||
| SEYHSSDLRM | LRMSPDTVPK | APKHLKAGDT | SKGGIAKVTQ | SNLKSGITTT | ||||
| PVDSDIGSHL | SLSLEDLSQL | AVSSLETTTG | QHTDTLNQKT | LADTHLTEET | ||||
| LKVTAIPEPA | DQKTATPTVL | SSSHSHRGKP | SIFYQQGLPD | SHLTEEALKV | ||||
| SAAPGLADQT | TGMSTLTSTS | YSHREKPGTF | YQQELPESNL | TEEPLEVSAA | ||||
| PGPVEQKTGI | PTVSSTSHSH | VEDLLFFYRQ | TLPDGHLTDQ | ALKVSAVSGP | ||||
| ADQKTGTATV | LSTPHSHREK | PGIFYQQEFA | DSHQTEETLT | KVSATPGPAD | ||||
| QKTEIPAVQS | SSYSQREKPS | ILYPQDLADS | HLPEEGLKVS | AVAGPADQKT | ||||
| GLPTVPSSAY | SHREKLLVFY | QQALLDSHLP | EEALKVSAVS | GPADGKTGTP | ||||
| AVTSTSSASS | SLGEKPSAFY | QQTLPNSHLT | EEALKVSIVP | GPGDQKTGIP | ||||
| SAPSSFYSHR | EKPIIFSQQT | LPDFLFPEEA | LKVSAVSVLA | AQKTGTPTVS | ||||
| SNSHSHSEKS | SVFYQQELPD | SDLPRESLKM | SAIPGLTDQK | TVPTPTVPSG | ||||
| SFSHREKPSI | FYQQEWPDSY | ATEKALKVST | GPGPADQKTE | IPAVQSSSYP | ||||
| QREKPSVLYP | QVLSDSHLPE | ESLKVSAFPG | PADQMTDTPA | VPSTFYSQRE | ||||
| KPGIFYQQTL | PESHLPKEAL | KISVAPGLAD | QKTGTPTVTS | TSYSQHREKP | ||||
| SIFHQQALPG | THIPEEAQKV | SAVTGPGNQK | TWIPRVLSTF | YSQREKPGIF | ||||
| YQQTLPGSHI | PEEAQKVSPV | LGPADQKTGT | PTPTSASYSH | TEKPGIFYQQ | ||||
| VLPDNHPTEE | ALKISVASEP | VDQTTGTPAV | TSTSYSQYRE | KPSIFYQQSL | ||||
| PSSHLTEEAK | NVSAVPGPAD | QKTVIPILPS | TFYSHTEKPG | VFYQQVLPHS | ||||
| HPTEEALKIS | VASEPVDQTT | GTPTVTSTSY | SQHTEKPSIF | YQQSLPGSHL | ||||
| TEEAKNVSAV | PGPGDRKTGI | PTLPSTFYSH | TEKPGSFYQQ | VLPHSHLPEE | ||||
| ALEVSVAPGP | VDQTIGTPTV | TSPSSSFGEK | PIVIYKQAFP | EGHLPEESLK | ||||
| VSVAPGPVGQ | TTGAPTITSP | SYSQHRAKSG | SFYQLALLGS | QIPEEALRVS | ||||
| SAPGPADQTT | GIPTITSTSY | SFGEKPIVNY | KQAFPDGHLP | EEALKVSIVS | ||||
| GPTEKKTDIP | AGPLGSSALG | EKPITFYRQA | LLDSPLNKEV | VKVSAAPGPA | ||||
| DQKTETLPVH | STSYSNRGKP | VIFYQQTLSD | SHLPEEALKV | PPVPGPDAQK | ||||
| TETPSVSSSL | YSYREKPIVF | YQQALPDSEL | TQEALKVSAV | PQPADQKTGL | ||||
| STVTSSFYSH | TEKPNISYQQ | ELPDSHLTEE | ALKVSNVPGP | ADQKTGVSTV | ||||
| TSTSYSHREK | PIVSYQRELP | HFTEAGLKIL | RVPGPADQKT | GINILPSNSY | ||||
| PQREHSVISY | EQELPDLTEV | TLKAIGVPGP | ADQKTGIQIA | SSSSYSNREK | ||||
| ASIFHQQELP | DVTEEALNVF | VVPGQGDRKT | EIPTVPLSYY | SRREKPSVIS | ||||
| QQELPDSHLT | EEALKVSPVS | IPAEQKTGIP | IGLSSSYSHS | HKEKLKISTV | ||||
| HIPDDQKTEF | PAATLSSYSQ | IEKPKISTVI | GPNDQKTPSQ | TAFHSSYSQT | ||||
| VKPNILFQQQ | LPDRDQSKGI | LKISAVPELT | DVNTGKPVSL | SSSYFHREKS | ||||
| NIFSPQELPG | SHVTEDVLKV | STIPGPAGQK | TVLPTALPSS | FSHREKPDIF | ||||
| YQKDLPDRHL | TEDALKISSA | LGQADQITGL | QTVPSGTYSH | GENHKLVSEH | ||||
| VQRLIDNLNS | SDSSVSSNNV | LLNSQADDRV | VINKPESAGF | RDVGSEEIQD | ||||
| AENSAKTLKE | IRTLLMEAEN | MALKRCNFPA | PLARFRDISD | ISFIQSKKVV | ||||
| CFKEPSSTGV | SNGDLLHRQP | FTEESPSSRC | IQKDIGTQTN | LKCRRGIENW | ||||
| EFISSTTVRS | PLQEAESKVS | MALEETLRQY | QAAKSVMRSE | PEGCSGTIGN | ||||
| KIIIPMMTVI | KSDSSSDASD | GNGSCSWDSN | LPESLESVSD | VLLNFFPYVS | ||||
| PKTSITDSRE | EEGVSESEDG | GGSSVDSLAA | HVKNLLQCES | SLNHAKEILR | ||||
| NAEEEESRVR | AHAWNMKFNL | AHDCGYSISE | LNEDDRRKVE | EIKAELFGHG | ||||
| RTTDLSKGLQ | SPRGMGCKPE | AVCSHIIIES | HEKGCFRTLT | SEHPQLDRHP | ||||
| CAFRSAGPSE | MTRGRQNPSS | CRAKHVNLSA | SLDQNNSHFK | VWNSLQLKSH | ||||
| SPFQNFIPDE | FKISKGLRMP | FDEKMDPWLS | ELVEPAFVPP | KEVDFHSSSQ | ||||
| MPSPEPMKKF | TTSITFSSHR | HSKCISNSSV | VKVGVTEGSQ | CTGASVGVFN | ||||
| SHFTEEQNPP | RDLKQKTSSP | SSFKMHSNSQ | DKEVTILAEG | RRQSQKLPVD | ||||
| FERSFQEEKP | LERSDFTGSH | SEPSTRANCS | NFKEIQISDN | HTLISMGRPS | ||||
| STLGVNRSSS | RLGVKEKNVT | ITPDLPSCIF | LEQRELFEQS | KAPRADDHVR | ||||
| KHHSPSPQHQ | DYVAPDLPSC | IFLEQRELFE | QCKAPYVDHQ | MRENHSPLPQ | ||||
| GQDSIASDLP | SPISLEQCQS | KAPGVDDQMN | KHHFPLPQGQ | DCVVEKNNQH | ||||
| KPKSHISNIN | VEAKFNTVVS | QSAPNHCTLA | ASASTPPSNR | KALSCVHITL | ||||
| CPKTSSKLDS | GTLDERFHSL | DAASKARMNS | EFNFDLHTVS | SRSLEPTSKL | ||||
| LTSKPVAQDQ | ESLGFLGPKS | SLDFQVVQPS | LPDSNTITQD | LKTIPSQNSQ | ||||
| IVTSRQIQVN | ISDFEGHSNP | EGTPVFADRL | PEKMKTPLSA | FSEKLSSDAV | ||||
| TQITTESPEK | TLFSSEIFIN | AEDRGHEIIE | PGNQKLRKAP | VKFASSSSVQ | ||||
| QVTFSRGTDG | QPLLLPYKPS | GSTKMYYVPQ | LRQIPPSPDS | KSDTTVESSH | ||||
| SGSNDAIAPD | FPAQVLGTRD | DDLSATVNIK | HKEGIYSKRV | VTKASLPVGE | ||||
| KPLQNENADA | SVQVLITGDE | NLSDKKQQEI | HSTRAVTEAA | QAKEKESLQK | ||||
| DTADSSAAAA | AEHSAQVGDP | EMKNLPDTKA | ITQKEEIHRK | KTVPEEAWPN | ||||
| NKESLQINIE | ESECHSEFEN | TTRSVFRSAK | FYIHHPVHLP | SDQDICHESL | ||||
| GKSVFMRHSW | KDFFQHHPDK | HREHMCLPLP | YQNMDKTKTD | YTRIKSLSIN | ||||
| VNLGNKEVMD | TTKSQVRDYP | KHNGQISDPQ | RDQKVTPEQT | TQHTVSLNEL | ||||
| WNKYRERQRQ | QRQPELGDRK | ELSLVDRLDR | LAKILQNPIT | HSLQVSESTH | ||||
| DDSRGERSVK | EWSGRQQQRN | KLQKKKRFKS | LEKSHKNTGE | LKKSKVLSHH | ||||
| RAGRSNQIKI | EQIKFDKYIL | SKQPGFNYIS | NTSSDCRPSE | ESELLTDTTT | ||||
| NILSGTTSTV | ESDILTQTDR | EVALHERSSS | VSTIDTARLI | QAFGHERVCL | ||||
| SPRRIKLYSS | ITNQQRRYLE | KRSKHSKKVL | NTGHPLVTSE | HTRRRHIQVA | ||||
| NHVISSDSIS | SSASSFLSSN | STFCNKQNVH | MLNKGIQAGN | LEIVNGAKKH | ||||
| TRDVGITFPT | PSSSEAKLEE | NSDVTSWSEE | KREEKMLFTG | YPEDRKLKKN | ||||
| KKNSHEGVSW | FVPVENVESR | SKKENVPNTC | GPGISWFEPI | TKTRPWREPL | ||||
| REQNCQGQHL | DGRGYLAGPG | REAGRDLLRP | FVRATLQESL | QFHRPDFISR | ||||
| SGERIKRLKL | IVQERKLQSM | LQTERDALFN | IDRERQGHQN | RMCPLPKRVF | ||||
| LAIQKNKPIS | KKEMIQRSKR | IYEQLPEVQK | KREEEKRKSE | YKSYRLRAQL | ||||
| YKKRVTNQLL | GRKVPWD |
Кодований геном білок за функцією належить до фосфопротеїнів. Задіяний у такому біологічному процесі, як альтернативний сплайсинг. Локалізований у цитоплазмі, цитоскелеті, клітинних відростках, війках.
Література
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).. Genome Res. 14: 2121 — 2127. 2004. PubMed DOI:10.1101/gr.2596504
Примітки
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- HUGO Gene Nomenclature Commitee, HGNC:428 (англ.). Процитовано 18 вересня 2017.
- UniProt, Q8TCU4 (англ.). Процитовано 18 вересня 2017.
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