
chromosome 9 open reeding frame 43

chromosome 9 open reeding frame 43 anedi maanavulalo c9orf43 janyuvu dwara encode cheyabadina protein. eee janyuvunu mgc17358 mariyu loka 257169 anie kooda pilustaaru. c9orf43 loe duff 4647 mariyu polyglutamine repeat praantam untundi, ayithe protein paniteeru baga ardham kaaledu.
janyuvu.
sthaanam.
c9orf43 anedi 9q32 vadda chromosome 9 yokka podavaina cheyi meeda undhi mariyu saanukuula strandpy vyakteekarinchabadutundi. janyu kramam 113,410,054 bp vadda praarambhamai 113,429,684 bp vadda mugustundi. c9orf43 yokka janyu parisaraalalo 5 itara janyuvulu unnaih hdhd3, alad, pole3, rgs3, mariyu loka 105376222.
prothsaahakulu.
genomatics eldorado anchanaa vesina sii9orf43 yokka prothsaahaka praantam 1199 bays jatala podavu mariyu cpg dveepam mariyu 5 'utrlo kontha bhaganni kaligi undhi. nirnayinchabadina transcription phyaaktar binding saitlalo jink finger protein zii. sii-baaks karakalu ess. pii. 1/zii. sii mariyu abhivruddhiki sambandhinchina hocks-pbx complexelu unnaayi.
vyakteekarana namuunaa.
c9orf43 janyu vyakteekarana maanavulalo saapekshamgaa ekkuvagaa untundi, idhi sagatu janyuvu kante 0.7 retlu ekkuva. c9orf43 anedi pindam mariyu vayojana abhivruddhi dasala samayamlo aneka vibhina kanajaalaalo NCBI yokka est profile prakaram vyakteekarinchabadutundi. boddu taadu, garbhasaya mariyu medadulo takkuva saapeksha vyakteekaranhatho vrushanhaalalo atyadhika vyakteekarana kanipistundi. pindam kaaleyam, oopiritittulu, kaaleyam, medadu, gunde, vennupamu, clomum, thymus, lalajala grandhi mariyu maavilo kooda vyakteekarana kanipistundi.
c9orf43 garbhasaya kanitulu, saadhaarana kanitulu mariyu mruduvaina kanajaalam/kandara kanitulato sahaa aarogya sthithulalo vyakteekarinchabadutundi. terratozoospermialo takkuva saapeksha vyakteekaranhatho poliste sii9orf43 veerya kanaalalo adhika sthaayilo vyakteekarinchabadutundi. saadhaarana terminal duct lobular unitto poliste ksheerada grandhi yokka hyperplastic vistarinchina lobular unitlo c9orf43 yokka ekkuva saapeksha vyakteekarana kanipistundi. c9orf43 vyakteekarana anedi chrf-288-11 kanaalatoe poliste paridheeya raktamlo cd34 plus kanaalalo kanipinche megacaryocyte bhedamlo maarutuu untundi.
mrna.
vaividhyaalu.
c9orf43loe 10 pratyamnaayamgaa spliesed mrnaలు untaayi, veetilo 8 manchi proteinlanu encode chestaayi. eee entriiloo charchinchina mrna accession number nm_001278629.1 nuu kaligi undhi mariyu 5 'mariyu 3' chivaralanu kattirinchadam mariyu aaru casset exanlanu cherchadam ledhaa minahaayinchadamlo itara mrna variantla nundi bhinnamgaa untundi.
transcriptional regulation.
c9orf43 yokka 376 bp anedi spliesed janyu pole 3kii antisense, idhi pratyaamnaaya vyakteekarana yokka saadhyamaina niyantrananu suuchistumdi. pradhana open reeding frame eguva bhaagamlo oka chinna open reeding frame anuvaada saamarthyaanni tagginchavachhu. c9orf43 yokka 3 'anuvaadam kaani praantamloo 3 anchanaa vesina kaandam-loop nirmaanaalu unnaayi, 4 mirna bandhinchabadutundani anchanaa veyabadindi.
protein.
lakshanaalu mariyu isopharmlu.
c9orf43loe moodu telisina puurti isopharmlu mariyu naalugu pakshika isopharmlu unnaayi. accession number np_001265558.1 thoo isopharm x1 anedi eee entriiloo charchinchabadina isopharm mariyu indulo 461 amaino aamlalu mariyu 16 exanlu untaayi. isopharm x1 anchanaa vesina paramaanu baruvu 52.2kd mariyu anchanaa vesina isoelectric point 8.037 kaligi untundi. isopharm x1 protein samruddhi saadhaarana vyakteekaranhatho saadhaaranamgaa untundani anchanaa veyabadindi.
nirmaanam.
c9orf43 yokka kuurpu vislaeshanha glutamine yokka sagatu frequency kante ekkuvagaa undani choopinchindi, ayithe anni itara amaino aamlalu maanava proteinlaku saadhaarana paridhiloo unnaayi. amaino aamlam 1-454 nundi teliyani function domine ayina duff4647 untundi. amaino aamlam 193-361 mariyu 375-461 nundi globular domainlu anchanaa vaeyabadataayi. c9orf43 dviteeya nirmaanam 36 saatam alfa helical mariyu 3 saatam beata sheet 73 saatam kramarahitamgaa untundani anchanaa veyabadindi. dviteeya nirmaana anchanaalu orthologus proteinlalo samrakshinchabadataayi.
homology/parinaamam.
c9orf43kii telisina paeralaaglu laevu, conny ksheeradaala nundi sareesrupaala "crocodilus porosus" varaku orthologlu unnaayi. akasheruka ledhaa mokkala jaatulalo orthologlu kanugonabadaledu. paramaanu gadiyara parikalpana aadhaaramgaa c9orf43 vichalanam mitamgaa untundi. c9orf43 cytochrome c kante vaegamgaa verucheyabadutundi, conny vaegamgaa abhivruddhi chendutunna fibrinopeptides kante nemmadigaa untundi. blastnu upayoginchi nirminchina orthologous proteinla pattikalo c9orf43 yokka vaividhyaanni pradarsinchadaaniki oka chinna upasamiti aartolaaglu untaayi.
anuvaada savarana taruvaata.
sumoilation, oo-linked glycosylation, enn-acetylglucose addition mariyu phosphorylation c9orf43 yokka anuvaada anantara maarpulanu anchanaa vaestaaru.
upa kana sthaanikeekarana.
c9orf43 anedi orthologla antataa samrakshinchabadina anhu sthaanikeekarana sankethamtho kanaantaramgaa untundani anchanaa veyabadindi. proteinlo signal peptides ledhaa mitochondrial lakshya sankethaalu undavu, idhi protein sravistundani ledhaa mitochondrianu lakshyamgaa chesukuntundani anchanaa veyabadaledani suuchistumdi.
paraspara proteins.
ghraana sambandhita jink vaeli protein c9orf43 upstream pramotartho bandhistundani anchanaa veyabadinanduna, c9orf43 anedi or7d2 mariyu or4x2 ghraana graahakaalato sankarshana chendhe avakaasam undhi. sii9orf43 anedi spermlo ekkuvagaa vyakteekarinchabadinanduna, sperm anubandha voltage gated calcium chaanal ayina catspur3thoo sii9orf43 yokka oohinchina paraspara charya kooda undavacchu.
clinical praamukhyata.
c9orf43kii telisina vyaadhi anubandhalu laevu, ayithe polyglutamine punaraavruta praantam trainucleotide punaraavruta rugmatalalo janyu puurvagaamulanu pooli untundi. huntington vyaadhi mariyu spinocerebellar ataxia vanti vyaadhulalo polyglutamine punaraavruta praantam yokka podavu perugudala kanipistundi.