ACAN

ACAN
Наявні структури
PDBПошук для людей: PDBe RCSB
Ідентифікатори
Символи ACAN, AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, Aggrecan, SSOAOD
Зовнішні ІД OMIM: 155760 HomoloGene: 136177 GeneCards: ACAN
Пов'язані генетичні захворювання
spondyloepiphyseal dysplasia, Kimberley type, spondyloepimetaphyseal dysplasia, aggrecan type[1]
Шаблон експресії




Більше даних
Ортологи
Види Людина Миша
Entrez
176
497505
Ensembl
ENSG00000157766
н/д
UniProt
P16112
н/д
RefSeq (мРНК)
NM_001135
NM_013227
NM_001369268
XM_005166485
XM_681090
RefSeq (білок)
NP_001126
NP_037359
NP_001356197
н/д
Локус (UCSC) Хр. 15: 88.8 – 88.88 Mb н/д
PubMed search [2] [3]
Вікідані
Див./Ред. для людейДив./Ред. для мишей

ACAN (англ. Aggrecan core protein) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 15-ї хромосоми.[4] Довжина поліпептидного ланцюга білка становить 2 415 амінокислот, а молекулярна маса — 250 193[5].

Послідовність амінокислот
1020304050
MTTLLWVFVTLRVITAAVTVETSDHDNSLSVSIPQPSPLRVLLGTSLTIP
CYFIDPMHPVTTAPSTAPLAPRIKWSRVSKEKEVVLLVATEGRVRVNSAY
QDKVSLPNYPAIPSDATLEVQSLRSNDSGVYRCEVMHGIEDSEATLEVVV
KGIVFHYRAISTRYTLDFDRAQRACLQNSAIIATPEQLQAAYEDGFHQCD
AGWLADQTVRYPIHTPREGCYGDKDEFPGVRTYGIRDTNETYDVYCFAEE
MEGEVFYATSPEKFTFQEAANECRRLGARLATTGHVYLAWQAGMDMCSAG
WLADRSVRYPISKARPNCGGNLLGVRTVYVHANQTGYPDPSSRYDAICYT
GEDFVDIPENFFGVGGEEDITVQTVTWPDMELPLPRNITEGEARGSVILT
VKPIFEVSPSPLEPEEPFTFAPEIGATAFAEVENETGEATRPWGFPTPGL
GPATAFTSEDLVVQVTAVPGQPHLPGGVVFHYRPGPTRYSLTFEEAQQAC
PGTGAVIASPEQLQAAYEAGYEQCDAGWLRDQTVRYPIVSPRTPCVGDKD
SSPGVRTYGVRPSTETYDVYCFVDRLEGEVFFATRLEQFTFQEALEFCES
HNATATTGQLYAAWSRGLDKCYAGWLADGSLRYPIVTPRPACGGDKPGVR
TVYLYPNQTGLPDPLSRHHAFCFRGISAVPSPGEEEGGTPTSPSGVEEWI
VTQVVPGVAAVPVEEETTAVPSGETTAILEFTTEPENQTEWEPAYTPVGT
SPLPGILPTWPPTGAETEESTEGPSATEVPSASEEPSPSEVPFPSEEPSP
SEEPFPSVRPFPSVELFPSEEPFPSKEPSPSEEPSASEEPYTPSPPEPSW
TELPSSGEESGAPDVSGDFTGSGDVSGHLDFSGQLSGDRASGLPSGDLDS
SGLTSTVGSGLTVESGLPSGDEERIEWPSTPTVGELPSGAEILEGSASGV
GDLSGLPSGEVLETSASGVGDLSGLPSGEVLETTAPGVEDISGLPSGEVL
ETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDISG
LPSGEVLETTAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAP
GVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGE
VLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDI
SGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETA
APGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETTAPGVEEISGLPS
GEVLETTAPGVDEISGLPSGEVLETTAPGVEEISGLPSGEVLETSTSAVG
DLSGLPSGGEVLEISVSGVEDISGLPSGEVVETSASGIEDVSELPSGEGL
ETSASGVEDLSRLPSGEEVLEISASGFGDLSGVPSGGEGLETSASEVGTD
LSGLPSGREGLETSASGAEDLSGLPSGKEDLVGSASGDLDLGKLPSGTLG
SGQAPETSGLPSGFSGEYSGVDLGSGPPSGLPDFSGLPSGFPTVSLVDST
LVEVVTASTASELEGRGTIGISGAGEISGLPSSELDISGRASGLPSGTEL
SGQASGSPDVSGEIPGLFGVSGQPSGFPDTSGETSGVTELSGLSSGQPGV
SGEASGVLYGTSQPFGITDLSGETSGVPDLSGQPSGLPGFSGATSGVPDL
VSGTTSGSGESSGITFVDTSLVEVAPTTFKEEEGLGSVELSGLPSGEADL
SGKSGMVDVSGQFSGTVDSSGFTSQTPEFSGLPSGIAEVSGESSRAEIGS
SLPSGAYYGSGTPSSFPTVSLVDRTLVESVTQAPTAQEAGEGPSGILELS
GAHSGAPDMSGEHSGFLDLSGLQSGLIEPSGEPPGTPYFSGDFASTTNVS
GESSVAMGTSGEASGLPEVTLITSEFVEGVTEPTISQELGQRPPVTHTPQ
LFESSGKVSTAGDISGATPVLPGSGVEVSSVPESSSETSAYPEAGFGASA
APEASREDSGSPDLSETTSAFHEANLERSSGLGVSGSTLTFQEGEASAAP
EVSGESTTTSDVGTEAPGLPSATPTASGDRTEISGDLSGHTSQLGVVIST
SIPESEWTQQTQRPAETHLEIESSSLLYSGEETHTVETATSPTDASIPAS
PEWKRESESTAAAPARSCAEEPCGAGTCKETEGHVICLCPPGYTGEHCNI
DQEVCEEGWNKYQGHCYRHFPDRETWVDAERRCREQQSHLSSIVTPEEQE
FVNNNAQDYQWIGLNDRTIEGDFRWSDGHPMQFENWRPNQPDNFFAAGED
CVVMIWHEKGEWNDVPCNYHLPFTCKKGTVACGEPPVVEHARTFGQKKDR
YEINSLVRYQCTEGFVQRHMPTIRCQPSGHWEEPRITCTDATTYKRRLQK
RSSRHPRRSRPSTAH

Задіяний у такому біологічному процесі, як альтернативний сплайсинг. Білок має сайт для зв'язування з іонами металів, іоном кальцію, лектинами. Локалізований у позаклітинному матриксі. Також секретований назовні.

Література

  • Sandy J.D., Flannery C.R., Neame P.J., Lohmander L.S. (1992). The structure of aggrecan fragments in human synovial fluid. Evidence for the involvement in osteoarthritis of a novel proteinase which cleaves the Glu 373-Ala 374 bond of the interglobular domain. J. Clin. Invest. 89: 1512—1516. PMID 1569188 DOI:10.1172/JCI115742
  • Glumoff V., Savontaus M., Vehanen J., Vuorio E. (1994). Analysis of aggrecan and tenascin gene expression in mouse skeletal tissues by northern and in situ hybridization using species specific cDNA probes. Biochim. Biophys. Acta. 1219: 613—622. PMID 7524681 DOI:10.1016/0167-4781(94)90220-8
  • Lohmander L.S., Neame P.J., Sandy J.D. (1993). The structure of aggrecan fragments in human synovial fluid. Evidence that aggrecanase mediates cartilage degradation in inflammatory joint disease, joint injury, and osteoarthritis. Arthritis Rheum. 36: 1214—1222. PMID 8216415 DOI:10.1002/art.1780360906
  • Barry F.P., Neame P.J., Sasse J., Pearson D. (1994). Length variation in the keratan sulfate domain of mammalian aggrecan. Matrix Biol. 14: 323—328. PMID 7827755 DOI:10.1016/0945-053X(94)90198-8
  • Gleghorn L., Ramesar R., Beighton P., Wallis G. (2005). A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am. J. Hum. Genet. 77: 484—490. PMID 16080123 DOI:10.1086/444401
  • Doege K.J., Sasaki M., Kimura T., Yamada Y. (1991). Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms. J. Biol. Chem. 266: 894—902. PMID 1985970

Примітки

  1. ↑ Захворювання, генетично пов'язані з ACAN переглянути/редагувати посилання на ВікіДаних.
  2. ↑ Human PubMed Reference:.
  3. ↑ Mouse PubMed Reference:.
  4. ↑ HUGO Gene Nomenclature Commitee, HGNC:319 (англ.) . Архів оригіналу за 14 січня 2017. Процитовано 11 вересня 2017. [Архівовано 2017-01-14 у Wayback Machine.]
  5. ↑ UniProt, P16112 (англ.) . Архів оригіналу за 2 вересня 2017. Процитовано 11 вересня 2017.

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