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ALMS1 англ ALMS1 centrosome and basal body associated protein білок який кодується однойменним геном розташованим у люде

ALMS1

ALMS1

ALMS1 (англ. ALMS1, centrosome and basal body associated protein) – білок, який кодується однойменним геном, розташованим у людей на 2-й хромосомі. Довжина поліпептидного ланцюга білка становить 4 167 амінокислот, а молекулярна маса — 460 965. При мутаціях цього гена може розвинутися синдром Алстрема.

ALMS1
Ідентифікатори
Символи ALMS1, ALSS, centrosome and basal body associated protein, ALMS1 centrosome and basal body associated protein
Зовнішні ІД OMIM: 606844 MGI: 1934606 HomoloGene: 49406 GeneCards: ALMS1
Ортологи
Види Людина Миша
Entrez
7840
236266
Ensembl
ENSG00000116127
ENSMUSG00000063810
UniProt
Q8TCU4
Q8K4E0
RefSeq (мРНК)
NM_015120
NM_001378454
NM_145223
RefSeq (білок)
NP_055935
NP_660258
Локус (UCSC) Хр. 2: 73.39 – 73.63 Mb Хр. 6: 85.56 – 85.68 Mb
PubMed search
Вікідані
Див./Ред. для людейДив./Ред. для мишей
Послідовність амінокислот
1020304050
MEPEDLPWPGELEEEEEEEEEEEEEEEEAAAAAAANVDDVVVVEEVEEEA
GRELDSDSHYGPQHLESIDDEEDEEAKAWLQAHPGRILPPLSPPQHRYSE
GERTSLEKIVPLTCHVWQQIVYQGNSRTQISDTNVVCLETTAQRGSGDDQ
KTESWHCLPQEMDSSQTLDTSQTRFNVRTEDTEVTDFPSLEEGILTQSEN
QVKEPNRDLFCSPLLVIQDSFASPDLPLLTCLTQDQEFAPDSLFHQSELS
FAPLRGIPDKSEDTEWSSRPSEVSEALFQATAEVASDLASSRFSVSQHPL
IGSTAVGSQCPFLPSEQGNNEETISSVDELKIPKDCDRYDDLCSYMSWKT
RKDTQWPENNLADKDQVSVATSFDITDENIATKRSDHFDAARSYGQYWTQ
EDSSKQAETYLTKGLQGKVESDVITLDGLNENAVVCSERVAELQRKPTRE
SEYHSSDLRMLRMSPDTVPKAPKHLKAGDTSKGGIAKVTQSNLKSGITTT
PVDSDIGSHLSLSLEDLSQLAVSSLETTTGQHTDTLNQKTLADTHLTEET
LKVTAIPEPADQKTATPTVLSSSHSHRGKPSIFYQQGLPDSHLTEEALKV
SAAPGLADQTTGMSTLTSTSYSHREKPGTFYQQELPESNLTEEPLEVSAA
PGPVEQKTGIPTVSSTSHSHVEDLLFFYRQTLPDGHLTDQALKVSAVSGP
ADQKTGTATVLSTPHSHREKPGIFYQQEFADSHQTEETLTKVSATPGPAD
QKTEIPAVQSSSYSQREKPSILYPQDLADSHLPEEGLKVSAVAGPADQKT
GLPTVPSSAYSHREKLLVFYQQALLDSHLPEEALKVSAVSGPADGKTGTP
AVTSTSSASSSLGEKPSAFYQQTLPNSHLTEEALKVSIVPGPGDQKTGIP
SAPSSFYSHREKPIIFSQQTLPDFLFPEEALKVSAVSVLAAQKTGTPTVS
SNSHSHSEKSSVFYQQELPDSDLPRESLKMSAIPGLTDQKTVPTPTVPSG
SFSHREKPSIFYQQEWPDSYATEKALKVSTGPGPADQKTEIPAVQSSSYP
QREKPSVLYPQVLSDSHLPEESLKVSAFPGPADQMTDTPAVPSTFYSQRE
KPGIFYQQTLPESHLPKEALKISVAPGLADQKTGTPTVTSTSYSQHREKP
SIFHQQALPGTHIPEEAQKVSAVTGPGNQKTWIPRVLSTFYSQREKPGIF
YQQTLPGSHIPEEAQKVSPVLGPADQKTGTPTPTSASYSHTEKPGIFYQQ
VLPDNHPTEEALKISVASEPVDQTTGTPAVTSTSYSQYREKPSIFYQQSL
PSSHLTEEAKNVSAVPGPADQKTVIPILPSTFYSHTEKPGVFYQQVLPHS
HPTEEALKISVASEPVDQTTGTPTVTSTSYSQHTEKPSIFYQQSLPGSHL
TEEAKNVSAVPGPGDRKTGIPTLPSTFYSHTEKPGSFYQQVLPHSHLPEE
ALEVSVAPGPVDQTIGTPTVTSPSSSFGEKPIVIYKQAFPEGHLPEESLK
VSVAPGPVGQTTGAPTITSPSYSQHRAKSGSFYQLALLGSQIPEEALRVS
SAPGPADQTTGIPTITSTSYSFGEKPIVNYKQAFPDGHLPEEALKVSIVS
GPTEKKTDIPAGPLGSSALGEKPITFYRQALLDSPLNKEVVKVSAAPGPA
DQKTETLPVHSTSYSNRGKPVIFYQQTLSDSHLPEEALKVPPVPGPDAQK
TETPSVSSSLYSYREKPIVFYQQALPDSELTQEALKVSAVPQPADQKTGL
STVTSSFYSHTEKPNISYQQELPDSHLTEEALKVSNVPGPADQKTGVSTV
TSTSYSHREKPIVSYQRELPHFTEAGLKILRVPGPADQKTGINILPSNSY
PQREHSVISYEQELPDLTEVTLKAIGVPGPADQKTGIQIASSSSYSNREK
ASIFHQQELPDVTEEALNVFVVPGQGDRKTEIPTVPLSYYSRREKPSVIS
QQELPDSHLTEEALKVSPVSIPAEQKTGIPIGLSSSYSHSHKEKLKISTV
HIPDDQKTEFPAATLSSYSQIEKPKISTVIGPNDQKTPSQTAFHSSYSQT
VKPNILFQQQLPDRDQSKGILKISAVPELTDVNTGKPVSLSSSYFHREKS
NIFSPQELPGSHVTEDVLKVSTIPGPAGQKTVLPTALPSSFSHREKPDIF
YQKDLPDRHLTEDALKISSALGQADQITGLQTVPSGTYSHGENHKLVSEH
VQRLIDNLNSSDSSVSSNNVLLNSQADDRVVINKPESAGFRDVGSEEIQD
AENSAKTLKEIRTLLMEAENMALKRCNFPAPLARFRDISDISFIQSKKVV
CFKEPSSTGVSNGDLLHRQPFTEESPSSRCIQKDIGTQTNLKCRRGIENW
EFISSTTVRSPLQEAESKVSMALEETLRQYQAAKSVMRSEPEGCSGTIGN
KIIIPMMTVIKSDSSSDASDGNGSCSWDSNLPESLESVSDVLLNFFPYVS
PKTSITDSREEEGVSESEDGGGSSVDSLAAHVKNLLQCESSLNHAKEILR
NAEEEESRVRAHAWNMKFNLAHDCGYSISELNEDDRRKVEEIKAELFGHG
RTTDLSKGLQSPRGMGCKPEAVCSHIIIESHEKGCFRTLTSEHPQLDRHP
CAFRSAGPSEMTRGRQNPSSCRAKHVNLSASLDQNNSHFKVWNSLQLKSH
SPFQNFIPDEFKISKGLRMPFDEKMDPWLSELVEPAFVPPKEVDFHSSSQ
MPSPEPMKKFTTSITFSSHRHSKCISNSSVVKVGVTEGSQCTGASVGVFN
SHFTEEQNPPRDLKQKTSSPSSFKMHSNSQDKEVTILAEGRRQSQKLPVD
FERSFQEEKPLERSDFTGSHSEPSTRANCSNFKEIQISDNHTLISMGRPS
STLGVNRSSSRLGVKEKNVTITPDLPSCIFLEQRELFEQSKAPRADDHVR
KHHSPSPQHQDYVAPDLPSCIFLEQRELFEQCKAPYVDHQMRENHSPLPQ
GQDSIASDLPSPISLEQCQSKAPGVDDQMNKHHFPLPQGQDCVVEKNNQH
KPKSHISNINVEAKFNTVVSQSAPNHCTLAASASTPPSNRKALSCVHITL
CPKTSSKLDSGTLDERFHSLDAASKARMNSEFNFDLHTVSSRSLEPTSKL
LTSKPVAQDQESLGFLGPKSSLDFQVVQPSLPDSNTITQDLKTIPSQNSQ
IVTSRQIQVNISDFEGHSNPEGTPVFADRLPEKMKTPLSAFSEKLSSDAV
TQITTESPEKTLFSSEIFINAEDRGHEIIEPGNQKLRKAPVKFASSSSVQ
QVTFSRGTDGQPLLLPYKPSGSTKMYYVPQLRQIPPSPDSKSDTTVESSH
SGSNDAIAPDFPAQVLGTRDDDLSATVNIKHKEGIYSKRVVTKASLPVGE
KPLQNENADASVQVLITGDENLSDKKQQEIHSTRAVTEAAQAKEKESLQK
DTADSSAAAAAEHSAQVGDPEMKNLPDTKAITQKEEIHRKKTVPEEAWPN
NKESLQINIEESECHSEFENTTRSVFRSAKFYIHHPVHLPSDQDICHESL
GKSVFMRHSWKDFFQHHPDKHREHMCLPLPYQNMDKTKTDYTRIKSLSIN
VNLGNKEVMDTTKSQVRDYPKHNGQISDPQRDQKVTPEQTTQHTVSLNEL
WNKYRERQRQQRQPELGDRKELSLVDRLDRLAKILQNPITHSLQVSESTH
DDSRGERSVKEWSGRQQQRNKLQKKKRFKSLEKSHKNTGELKKSKVLSHH
RAGRSNQIKIEQIKFDKYILSKQPGFNYISNTSSDCRPSEESELLTDTTT
NILSGTTSTVESDILTQTDREVALHERSSSVSTIDTARLIQAFGHERVCL
SPRRIKLYSSITNQQRRYLEKRSKHSKKVLNTGHPLVTSEHTRRRHIQVA
NHVISSDSISSSASSFLSSNSTFCNKQNVHMLNKGIQAGNLEIVNGAKKH
TRDVGITFPTPSSSEAKLEENSDVTSWSEEKREEKMLFTGYPEDRKLKKN
KKNSHEGVSWFVPVENVESRSKKENVPNTCGPGISWFEPITKTRPWREPL
REQNCQGQHLDGRGYLAGPGREAGRDLLRPFVRATLQESLQFHRPDFISR
SGERIKRLKLIVQERKLQSMLQTERDALFNIDRERQGHQNRMCPLPKRVF
LAIQKNKPISKKEMIQRSKRIYEQLPEVQKKREEEKRKSEYKSYRLRAQL
YKKRVTNQLLGRKVPWD

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. PMID 15489334 DOI:10.1101/gr.2596504

Примітки

  1. Human PubMed Reference:.
  2. Mouse PubMed Reference:.
  3. (англ.) . Архів оригіналу за 28 жовтня 2017. Процитовано 18 вересня 2017.
  4. (англ.) . Архів оригіналу за 25 серпня 2017. Процитовано 18 вересня 2017.

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ALMS1 angl ALMS1 centrosome and basal body associated protein bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na 2 j hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 4 167 aminokislot a molekulyarna masa 460 965 Pri mutaciyah cogo gena mozhe rozvinutisya sindrom Alstrema ALMS1IdentifikatoriSimvoliALMS1 ALSS centrosome and basal body associated protein ALMS1 centrosome and basal body associated proteinZovnishni ID OMIM 606844 MGI 1934606 HomoloGene 49406 GeneCards ALMS1Ontologiya genaMolekulyarna funkciya GO 0001948 GO 0016582 protein binding alpha actinin binding molekulyarna funkciyaKlitinna komponenta centr organizaciyi mikrotrubochok Centriol gialoplazma centrosoma cell projection spindle pole vijka citoskelet citoplazmaBiologichnij proces endosomal transport G2 M transition of mitotic cell cycle regulation of stress fiber assembly ciliary basal body plasma membrane docking regulation of G2 M transition of mitotic cell cycle regulation of centriole replication positive regulation of cold induced thermogenesisDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez7840 236266Ensembl ENSG00000116127 ENSMUSG00000063810UniProt Q8TCU4 Q8K4E0RefSeq mRNK NM 015120 NM 001378454NM 145223RefSeq bilok NP 055935NP 660258Lokus UCSC Hr 2 73 39 73 63 MbHr 6 85 56 85 68 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MEPEDLPWPGELEEEEEEEEEEEEEEEEAAAAAAANVDDVVVVEEVEEEA GRELDSDSHYGPQHLESIDDEEDEEAKAWLQAHPGRILPPLSPPQHRYSE GERTSLEKIVPLTCHVWQQIVYQGNSRTQISDTNVVCLETTAQRGSGDDQ KTESWHCLPQEMDSSQTLDTSQTRFNVRTEDTEVTDFPSLEEGILTQSEN QVKEPNRDLFCSPLLVIQDSFASPDLPLLTCLTQDQEFAPDSLFHQSELS FAPLRGIPDKSEDTEWSSRPSEVSEALFQATAEVASDLASSRFSVSQHPL IGSTAVGSQCPFLPSEQGNNEETISSVDELKIPKDCDRYDDLCSYMSWKT RKDTQWPENNLADKDQVSVATSFDITDENIATKRSDHFDAARSYGQYWTQ EDSSKQAETYLTKGLQGKVESDVITLDGLNENAVVCSERVAELQRKPTRE SEYHSSDLRMLRMSPDTVPKAPKHLKAGDTSKGGIAKVTQSNLKSGITTT PVDSDIGSHLSLSLEDLSQLAVSSLETTTGQHTDTLNQKTLADTHLTEET LKVTAIPEPADQKTATPTVLSSSHSHRGKPSIFYQQGLPDSHLTEEALKV SAAPGLADQTTGMSTLTSTSYSHREKPGTFYQQELPESNLTEEPLEVSAA PGPVEQKTGIPTVSSTSHSHVEDLLFFYRQTLPDGHLTDQALKVSAVSGP ADQKTGTATVLSTPHSHREKPGIFYQQEFADSHQTEETLTKVSATPGPAD QKTEIPAVQSSSYSQREKPSILYPQDLADSHLPEEGLKVSAVAGPADQKT GLPTVPSSAYSHREKLLVFYQQALLDSHLPEEALKVSAVSGPADGKTGTP AVTSTSSASSSLGEKPSAFYQQTLPNSHLTEEALKVSIVPGPGDQKTGIP SAPSSFYSHREKPIIFSQQTLPDFLFPEEALKVSAVSVLAAQKTGTPTVS SNSHSHSEKSSVFYQQELPDSDLPRESLKMSAIPGLTDQKTVPTPTVPSG SFSHREKPSIFYQQEWPDSYATEKALKVSTGPGPADQKTEIPAVQSSSYP QREKPSVLYPQVLSDSHLPEESLKVSAFPGPADQMTDTPAVPSTFYSQRE KPGIFYQQTLPESHLPKEALKISVAPGLADQKTGTPTVTSTSYSQHREKP SIFHQQALPGTHIPEEAQKVSAVTGPGNQKTWIPRVLSTFYSQREKPGIF YQQTLPGSHIPEEAQKVSPVLGPADQKTGTPTPTSASYSHTEKPGIFYQQ VLPDNHPTEEALKISVASEPVDQTTGTPAVTSTSYSQYREKPSIFYQQSL PSSHLTEEAKNVSAVPGPADQKTVIPILPSTFYSHTEKPGVFYQQVLPHS HPTEEALKISVASEPVDQTTGTPTVTSTSYSQHTEKPSIFYQQSLPGSHL TEEAKNVSAVPGPGDRKTGIPTLPSTFYSHTEKPGSFYQQVLPHSHLPEE ALEVSVAPGPVDQTIGTPTVTSPSSSFGEKPIVIYKQAFPEGHLPEESLK VSVAPGPVGQTTGAPTITSPSYSQHRAKSGSFYQLALLGSQIPEEALRVS SAPGPADQTTGIPTITSTSYSFGEKPIVNYKQAFPDGHLPEEALKVSIVS GPTEKKTDIPAGPLGSSALGEKPITFYRQALLDSPLNKEVVKVSAAPGPA DQKTETLPVHSTSYSNRGKPVIFYQQTLSDSHLPEEALKVPPVPGPDAQK TETPSVSSSLYSYREKPIVFYQQALPDSELTQEALKVSAVPQPADQKTGL STVTSSFYSHTEKPNISYQQELPDSHLTEEALKVSNVPGPADQKTGVSTV TSTSYSHREKPIVSYQRELPHFTEAGLKILRVPGPADQKTGINILPSNSY PQREHSVISYEQELPDLTEVTLKAIGVPGPADQKTGIQIASSSSYSNREK ASIFHQQELPDVTEEALNVFVVPGQGDRKTEIPTVPLSYYSRREKPSVIS QQELPDSHLTEEALKVSPVSIPAEQKTGIPIGLSSSYSHSHKEKLKISTV HIPDDQKTEFPAATLSSYSQIEKPKISTVIGPNDQKTPSQTAFHSSYSQT VKPNILFQQQLPDRDQSKGILKISAVPELTDVNTGKPVSLSSSYFHREKS NIFSPQELPGSHVTEDVLKVSTIPGPAGQKTVLPTALPSSFSHREKPDIF YQKDLPDRHLTEDALKISSALGQADQITGLQTVPSGTYSHGENHKLVSEH VQRLIDNLNSSDSSVSSNNVLLNSQADDRVVINKPESAGFRDVGSEEIQD AENSAKTLKEIRTLLMEAENMALKRCNFPAPLARFRDISDISFIQSKKVV CFKEPSSTGVSNGDLLHRQPFTEESPSSRCIQKDIGTQTNLKCRRGIENW EFISSTTVRSPLQEAESKVSMALEETLRQYQAAKSVMRSEPEGCSGTIGN KIIIPMMTVIKSDSSSDASDGNGSCSWDSNLPESLESVSDVLLNFFPYVS PKTSITDSREEEGVSESEDGGGSSVDSLAAHVKNLLQCESSLNHAKEILR NAEEEESRVRAHAWNMKFNLAHDCGYSISELNEDDRRKVEEIKAELFGHG RTTDLSKGLQSPRGMGCKPEAVCSHIIIESHEKGCFRTLTSEHPQLDRHP CAFRSAGPSEMTRGRQNPSSCRAKHVNLSASLDQNNSHFKVWNSLQLKSH SPFQNFIPDEFKISKGLRMPFDEKMDPWLSELVEPAFVPPKEVDFHSSSQ MPSPEPMKKFTTSITFSSHRHSKCISNSSVVKVGVTEGSQCTGASVGVFN SHFTEEQNPPRDLKQKTSSPSSFKMHSNSQDKEVTILAEGRRQSQKLPVD FERSFQEEKPLERSDFTGSHSEPSTRANCSNFKEIQISDNHTLISMGRPS STLGVNRSSSRLGVKEKNVTITPDLPSCIFLEQRELFEQSKAPRADDHVR KHHSPSPQHQDYVAPDLPSCIFLEQRELFEQCKAPYVDHQMRENHSPLPQ GQDSIASDLPSPISLEQCQSKAPGVDDQMNKHHFPLPQGQDCVVEKNNQH KPKSHISNINVEAKFNTVVSQSAPNHCTLAASASTPPSNRKALSCVHITL CPKTSSKLDSGTLDERFHSLDAASKARMNSEFNFDLHTVSSRSLEPTSKL LTSKPVAQDQESLGFLGPKSSLDFQVVQPSLPDSNTITQDLKTIPSQNSQ IVTSRQIQVNISDFEGHSNPEGTPVFADRLPEKMKTPLSAFSEKLSSDAV TQITTESPEKTLFSSEIFINAEDRGHEIIEPGNQKLRKAPVKFASSSSVQ QVTFSRGTDGQPLLLPYKPSGSTKMYYVPQLRQIPPSPDSKSDTTVESSH SGSNDAIAPDFPAQVLGTRDDDLSATVNIKHKEGIYSKRVVTKASLPVGE KPLQNENADASVQVLITGDENLSDKKQQEIHSTRAVTEAAQAKEKESLQK DTADSSAAAAAEHSAQVGDPEMKNLPDTKAITQKEEIHRKKTVPEEAWPN NKESLQINIEESECHSEFENTTRSVFRSAKFYIHHPVHLPSDQDICHESL GKSVFMRHSWKDFFQHHPDKHREHMCLPLPYQNMDKTKTDYTRIKSLSIN VNLGNKEVMDTTKSQVRDYPKHNGQISDPQRDQKVTPEQTTQHTVSLNEL WNKYRERQRQQRQPELGDRKELSLVDRLDRLAKILQNPITHSLQVSESTH DDSRGERSVKEWSGRQQQRNKLQKKKRFKSLEKSHKNTGELKKSKVLSHH RAGRSNQIKIEQIKFDKYILSKQPGFNYISNTSSDCRPSEESELLTDTTT NILSGTTSTVESDILTQTDREVALHERSSSVSTIDTARLIQAFGHERVCL SPRRIKLYSSITNQQRRYLEKRSKHSKKVLNTGHPLVTSEHTRRRHIQVA NHVISSDSISSSASSFLSSNSTFCNKQNVHMLNKGIQAGNLEIVNGAKKH TRDVGITFPTPSSSEAKLEENSDVTSWSEEKREEKMLFTGYPEDRKLKKN KKNSHEGVSWFVPVENVESRSKKENVPNTCGPGISWFEPITKTRPWREPL REQNCQGQHLDGRGYLAGPGREAGRDLLRPFVRATLQESLQFHRPDFISR SGERIKRLKLIVQERKLQSMLQTERDALFNIDRERQGHQNRMCPLPKRVF LAIQKNKPISKKEMIQRSKRIYEQLPEVQKKREEEKRKSEYKSYRLRAQL YKKRVTNQLLGRKVPWD A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyeyu nalezhit do fosfoproteyiniv Zadiyanij u takomu biologichnomu procesi yak alternativnij splajsing Lokalizovanij u citoplazmi citoskeleti klitinnih vidrostkah vijkah LiteraturaThe status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PMID 15489334 DOI 10 1101 gr 2596504PrimitkiHuman PubMed Reference Mouse PubMed Reference angl Arhiv originalu za 28 zhovtnya 2017 Procitovano 18 veresnya 2017 angl Arhiv originalu za 25 serpnya 2017 Procitovano 18 veresnya 2017 Div takozhHromosoma 2 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi

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