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Q8TCU4 Proteins with OtherRepeats Repeats
Uniprot ID: Q8TCU4
Protein name : Alstrom syndrome protein 1
Gene : ALMS1 KIAA0328
Protein Families :
Squence Length : 4168
Sequence
>Q8TCU4 4169 MEPEDLPWPGELEEEEEEEEEEEEEEEEAAAAAAANVDDVVVVEEVEEEAGRELDSDSHYGPQHLESIDDEEDEEAKAWLQAHPGRILPPLSPPQHRYSEGERTSLEKIVPLTCHVWQQIVYQGNSRTQISDTNVVCLETTAQRGSGDDQKTESWHCLPQEMDSSQTLDTSQTRFNVRTEDTEVTDFPSLEEGILTQSENQVKEPNRDLFCSPLLVIQDSFASPDLPLLTCLTQDQEFAPDSLFHQSELSFAPLRGIPDKSEDTEWSSRPSEVSEALFQATAEVASDLASSRFSVSQHPLIGSTAVGSQCPFLPSEQGNNEETISSVDELKIPKDCDRYDDLCSYMSWKTRKDTQWPENNLADKDQVSVATSFDITDENIATKRSDHFDAARSYGQYWTQEDSSKQAETYLTKGLQGKVESDVITLDGLNENAVVCSERVAELQRKPTRESEYHSSDLRMLRMSPDTVPKAPKHLKAGDTSKGGIAKVTQSNLKSGITTTPVDSDIGSHLSLSLEDLSQLAVSSPLETTTGQHTDTLNQKTLADTHLTEETLKVTAIPEPADQKTATPTVLSSSHSHRGKPSIFYQQGLPDSHLTEEALKVSAAPGLADQTTGMSTLTSTSYSHREKPGTFYQQELPESNLTEEPLEVSAAPGPVEQKTGIPTVSSTSHSHVEDLLFFYRQTLPDGHLTDQALKVSAVSGPADQKTGTATVLSTPHSHREKPGIFYQQEFADSHQTEETLTKVSATPGPADQKTEIPAVQSSSYSQREKPSILYPQDLADSHLPEEGLKVSAVAGPADQKTGLPTVPSSAYSHREKLLVFYQQALLDSHLPEEALKVSAVSGPADGKTGTPAVTSTSSASSSLGEKPSAFYQQTLPNSHLTEEALKVSIVPGPGDQKTGIPSAPSSFYSHREKPIIFSQQTLPDFLFPEEALKVSAVSVLAAQKTGTPTVSSNSHSHSEKSSVFYQQELPDSDLPRESLKMSAIPGLTDQKTVPTPTVPSGSFSHREKPSIFYQQEWPDSYATEKALKVSTGPGPADQKTEIPAVQSSSYPQREKPSVLYPQVLSDSHLPEESLKVSAFPGPADQMTDTPAVPSTFYSQREKPGIFYQQTLPESHLPKEALKISVAPGLADQKTGTPTVTSTSYSQHREKPSIFHQQALPGTHIPEEAQKVSAVTGPGNQKTWIPRVLSTFYSQREKPGIFYQQTLPGSHIPEEAQKVSPVLGPADQKTGTPTPTSASYSHTEKPGIFYQQVLPDNHPTEEALKISVASEPVDQTTGTPAVTSTSYSQYREKPSIFYQQSLPSSHLTEEAKNVSAVPGPADQKTVIPILPSTFYSHTEKPGVFYQQVLPHSHPTEEALKISVASEPVDQTTGTPTVTSTSYSQHTEKPSIFYQQSLPGSHLTEEAKNVSAVPGPGDRKTGIPTLPSTFYSHTEKPGSFYQQVLPHSHLPEEALEVSVAPGPVDQTIGTPTVTSPSSSFGEKPIVIYKQAFPEGHLPEESLKVSVAPGPVGQTTGAPTITSPSYSQHRAKSGSFYQLALLGSQIPEEALRVSSAPGPADQTTGIPTITSTSYSFGEKPIVNYKQAFPDGHLPEEALKVSIVSGPTEKKTDIPAGPLGSSALGEKPITFYRQALLDSPLNKEVVKVSAAPGPADQKTETLPVHSTSYSNRGKPVIFYQQTLSDSHLPEEALKVPPVPGPDAQKTETPSVSSSLYSYREKPIVFYQQALPDSELTQEALKVSAVPQPADQKTGLSTVTSSFYSHTEKPNISYQQELPDSHLTEEALKVSNVPGPADQKTGVSTVTSTSYSHREKPIVSYQRELPHFTEAGLKILRVPGPADQKTGINILPSNSYPQREHSVISYEQELPDLTEVTLKAIGVPGPADQKTGIQIASSSSYSNREKASIFHQQELPDVTEEALNVFVVPGQGDRKTEIPTVPLSYYSRREKPSVISQQELPDSHLTEEALKVSPVSIPAEQKTGIPIGLSSSYSHSHKEKLKISTVHIPDDQKTEFPAATLSSYSQIEKPKISTVIGPNDQKTPSQTAFHSSYSQTVKPNILFQQQLPDRDQSKGILKISAVPELTDVNTGKPVSLSSSYFHREKSNIFSPQELPGSHVTEDVLKVSTIPGPAGQKTVLPTALPSSFSHREKPDIFYQKDLPDRHLTEDALKISSALGQADQITGLQTVPSGTYSHGENHKLVSEHVQRLIDNLNSSDSSVSSNNVLLNSQADDRVVINKPESAGFRDVGSEEIQDAENSAKTLKEIRTLLMEAENMALKRCNFPAPLARFRDISDISFIQSKKVVCFKEPSSTGVSNGDLLHRQPFTEESPSSRCIQKDIGTQTNLKCRRGIENWEFISSTTVRSPLQEAESKVSMALEETLRQYQAAKSVMRSEPEGCSGTIGNKIIIPMMTVIKSDSSSDASDGNGSCSWDSNLPESLESVSDVLLNFFPYVSPKTSITDSREEEGVSESEDGGGSSVDSLAAHVKNLLQCESSLNHAKEILRNAEEEESRVRAHAWNMKFNLAHDCGYSISELNEDDRRKVEEIKAELFGHGRTTDLSKGLQSPRGMGCKPEAVCSHIIIESHEKGCFRTLTSEHPQLDRHPCAFRSAGPSEMTRGRQNPSSCRAKHVNLSASLDQNNSHFKVWNSLQLKSHSPFQNFIPDEFKISKGLRMPFDEKMDPWLSELVEPAFVPPKEVDFHSSSQMPSPEPMKKFTTSITFSSHRHSKCISNSSVVKVGVTEGSQCTGASVGVFNSHFTEEQNPPRDLKQKTSSPSSFKMHSNSQDKEVTILAEGRRQSQKLPVDFERSFQEEKPLERSDFTGSHSEPSTRANCSNFKEIQISDNHTLISMGRPSSTLGVNRSSSRLGVKEKNVTITPDLPSCIFLEQRELFEQSKAPRADDHVRKHHSPSPQHQDYVAPDLPSCIFLEQRELFEQCKAPYVDHQMRENHSPLPQGQDSIASDLPSPISLEQCQSKAPGVDDQMNKHHFPLPQGQDCVVEKNNQHKPKSHISNINVEAKFNTVVSQSAPNHCTLAASASTPPSNRKALSCVHITLCPKTSSKLDSGTLDERFHSLDAASKARMNSEFNFDLHTVSSRSLEPTSKLLTSKPVAQDQESLGFLGPKSSLDFQVVQPSLPDSNTITQDLKTIPSQNSQIVTSRQIQVNISDFEGHSNPEGTPVFADRLPEKMKTPLSAFSEKLSSDAVTQITTESPEKTLFSSEIFINAEDRGHEIIEPGNQKLRKAPVKFASSSSVQQVTFSRGTDGQPLLLPYKPSGSTKMYYVPQLRQIPPSPDSKSDTTVESSHSGSNDAIAPDFPAQVLGTRDDDLSATVNIKHKEGIYSKRVVTKASLPVGEKPLQNENADASVQVLITGDENLSDKKQQEIHSTRAVTEAAQAKEKESLQKDTADSSAAAAAEHSAQVGDPEMKNLPDTKAITQKEEIHRKKTVPEEAWPNNKESLQINIEESECHSEFENTTRSVFRSAKFYIHHPVHLPSDQDICHESLGKSVFMRHSWKDFFQHHPDKHREHMCLPLPYQNMDKTKTDYTRIKSLSINVNLGNKEVMDTTKSQVRDYPKHNGQISDPQRDQKVTPEQTTQHTVSLNELWNKYRERQRQQRQPELGDRKELSLVDRLDRLAKILQNPITHSLQVSESTHDDSRGERSVKEWSGRQQQRNKLQKKKRFKSLEKSHKNTGELKKSKVLSHHRAGRSNQIKIEQIKFDKYILSKQPGFNYISNTSSDCRPSEESELLTDTTTNILSGTTSTVESDILTQTDREVALHERSSSVSTIDTARLIQAFGHERVCLSPRRIKLYSSITNQQRRYLEKRSKHSKKVLNTGHPLVTSEHTRRRHIQVANHVISSDSISSSASSFLSSNSTFCNKQNVHMLNKGIQAGNLEIVNGAKKHTRDVGITFPTPSSSEAKLEENSDVTSWSEEKREEKMLFTGYPEDRKLKKNKKNSHEGVSWFVPVENVESRSKKENVPNTCGPGISWFEPITKTRPWREPLREQNCQGQHLDGRGYLAGPGREAGRDLLRPFVRATLQESLQFHRPDFISRSGERIKRLKLIVQERKLQSMLQTERDALFNIDRERQGHQNRMCPLPKRVFLAIQKNKPISKKEMIQRSKRIYEQLPEVQKKREEEKRKSEYKSYRLRAQLYKKRVTNQLLGRKVPWD
Repeat regions
REPEAT 539 585 1 REPEAT 586 632 2 REPEAT 633 679 3 REPEAT 680 726 4 REPEAT 727 774 5 REPEAT 775 821 6 REPEAT 822 871 7 REPEAT 872 918 8 REPEAT 919 965 9 REPEAT 966 1013 10 REPEAT 1014 1060 11 REPEAT 1061 1107 12 REPEAT 1108 1155 13 REPEAT 1156 1202 14 REPEAT 1203 1249 15 REPEAT 1250 1297 16 REPEAT 1298 1344 17 REPEAT 1345 1392 18 REPEAT 1393 1439 19 REPEAT 1440 1486 20 REPEAT 1487 1534 21 REPEAT 1535 1581 22 REPEAT 1582 1628 23 REPEAT 1629 1675 24 REPEAT 1676 1722 25 REPEAT 1723 1769 26 REPEAT 1770 1816 27 REPEAT 1817 1861 28 REPEAT 1862 1906 29 REPEAT 1907 1951 30 REPEAT 1952 1999 31 REPEAT 2060 2105 32 REPEAT 2106 2152 33 REPEAT 2153 2200 34
Sequence region of repeats
539- 585 TLADTHLTEETLKVTAIPEPADQKTATPTVLSSSHSHRGKPSIFYQQ 586- 632 GLPDSHLTEEALKVSAAPGLADQTTGMSTLTSTSYSHREKPGTFYQQ 633- 679 ELPESNLTEEPLEVSAAPGPVEQKTGIPTVSSTSHSHVEDLLFFYRQ 680- 726 TLPDGHLTDQALKVSAVSGPADQKTGTATVLSTPHSHREKPGIFYQQ 727- 774 EFADSHQTEETLTKVSATPGPADQKTEIPAVQSSSYSQREKPSILYPQ 775- 821 DLADSHLPEEGLKVSAVAGPADQKTGLPTVPSSAYSHREKLLVFYQQ 822- 871 ALLDSHLPEEALKVSAVSGPADGKTGTPAVTSTSSASSSLGEKPSAFYQQ 872- 918 TLPNSHLTEEALKVSIVPGPGDQKTGIPSAPSSFYSHREKPIIFSQQ 919- 965 TLPDFLFPEEALKVSAVSVLAAQKTGTPTVSSNSHSHSEKSSVFYQQ 966- 1013 ELPDSDLPRESLKMSAIPGLTDQKTVPTPTVPSGSFSHREKPSIFYQQ 1014- 1060 EWPDSYATEKALKVSTGPGPADQKTEIPAVQSSSYPQREKPSVLYPQ 1061- 1107 VLSDSHLPEESLKVSAFPGPADQMTDTPAVPSTFYSQREKPGIFYQQ 1108- 1155 TLPESHLPKEALKISVAPGLADQKTGTPTVTSTSYSQHREKPSIFHQQ 1156- 1202 ALPGTHIPEEAQKVSAVTGPGNQKTWIPRVLSTFYSQREKPGIFYQQ 1203- 1249 TLPGSHIPEEAQKVSPVLGPADQKTGTPTPTSASYSHTEKPGIFYQQ 1250- 1297 VLPDNHPTEEALKISVASEPVDQTTGTPAVTSTSYSQYREKPSIFYQQ 1298- 1344 SLPSSHLTEEAKNVSAVPGPADQKTVIPILPSTFYSHTEKPGVFYQQ 1345- 1392 VLPHSHPTEEALKISVASEPVDQTTGTPTVTSTSYSQHTEKPSIFYQQ 1393- 1439 SLPGSHLTEEAKNVSAVPGPGDRKTGIPTLPSTFYSHTEKPGSFYQQ 1440- 1486 VLPHSHLPEEALEVSVAPGPVDQTIGTPTVTSPSSSFGEKPIVIYKQ 1487- 1534 AFPEGHLPEESLKVSVAPGPVGQTTGAPTITSPSYSQHRAKSGSFYQL 1535- 1581 ALLGSQIPEEALRVSSAPGPADQTTGIPTITSTSYSFGEKPIVNYKQ 1582- 1628 AFPDGHLPEEALKVSIVSGPTEKKTDIPAGPLGSSALGEKPITFYRQ 1629- 1675 ALLDSPLNKEVVKVSAAPGPADQKTETLPVHSTSYSNRGKPVIFYQQ 1676- 1722 TLSDSHLPEEALKVPPVPGPDAQKTETPSVSSSLYSYREKPIVFYQQ 1723- 1769 ALPDSELTQEALKVSAVPQPADQKTGLSTVTSSFYSHTEKPNISYQQ 1770- 1816 ELPDSHLTEEALKVSNVPGPADQKTGVSTVTSTSYSHREKPIVSYQR 1817- 1861 ELPHFTEAGLKILRVPGPADQKTGINILPSNSYPQREHSVISYEQ 1862- 1906 ELPDLTEVTLKAIGVPGPADQKTGIQIASSSSYSNREKASIFHQQ 1907- 1951 ELPDVTEEALNVFVVPGQGDRKTEIPTVPLSYYSRREKPSVISQQ 1952- 1999 ELPDSHLTEEALKVSPVSIPAEQKTGIPIGLSSSYSHSHKEKLKISTV 2060- 2105 LPDRDQSKGILKISAVPELTDVNTGKPVSLSSSYFHREKSNIFSPQ 2106- 2152 ELPGSHVTEDVLKVSTIPGPAGQKTVLPTALPSSFSHREKPDIFYQK 2153- 2200 DLPDRHLTEDALKISSALGQADQITGLQTVPSGTYSHGENHKLVSEHV
Function
"Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells"
Mutation
Disease
"DISEASE: Alstrom syndrome (ALMS) [MIM:203800]: A rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2 Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome Note=The disease is caused by mutations affecting the gene represented in this entry"