KLHDC7B (22q13.33) (Koko: 1235 aa peptidi( Polyglutamiinijaksoja, runsas proliinipitoisuus , atrofiini-1 domeeni

https://www.ncbi.nlm.nih.gov/gene/113730  ( Tämä Kelch-proteiini  voi  vaikuttaa  CREB:iin ,  transkriptionaalisen koaktivaattoriin  sitoutuvan   CBP:n   (creb binding protein) pois vatäytymisstä tumasta atrofiini-1  domeenin kautta ja se taas aiheuttaa että glukoneogeneesi  voi päästä alkamaan. Luulisi että  tuumorissa sellainen olisi edullista  syövän  energia-aineenvaihdunnalle.  Neuronedegeneratiivisissa taudeissa POLYGLUTAMIINITAUDEISSA, on tätä mekanimsia atrofiini-1 domeenista.

Preferred Names

kelch domain-containing protein 7B

1. NM_138433.5 → NP_612442.3  kelch domain-containing protein 7B

2. ORIGIN      
           1 miqgtlepdg plwgwdwdsd ndwdsavlal lalavvaata lalhwfgsgh dqeaaepvst
          61 algaqphqag gaelalqpks kvsdgsegqs pgqgkpeppg rgqqspvpaa apggglaama
         121 rlplktavee arrealgqqr gsatpaapra egkepprpgt allgrseagg msapllihft
         181 prspgseaea etggvrassr qaagpagqqd tgpwqagagp sgsmgrgrgr rrrmdagsgd
         241 rarrprkldp lrlgaagsvw davdgaaald aharglptgp plaqepalpa lpapralqpg
         301 sqtegsgakg gwsreasgvp apgggwpwvs revpgtrsfg papdstrpwl esppqgrpls
         361 sqgpgatgay dageagadss rdnspaadlg ptrppeqakp aaaghsraps rsreprprsa
         421 sppaapgpgf ppealtlpsp sdflplevtq dpsvgenlra apapssasaq vltsapasvl
         481 apalasspss aptsattsts sptsapapap tsaptstpap apspaaaatp apapvpvptl
         541 tppspaltpv ptpalspapt paltpaaspa ltpvptpals paptpaptpa aspapaptsa
         601 ptptpaaspa padgskpqes valprryqeg qvsaswgnli amvlrshpfp rqdrpqgsvp
         661 ravpgspvgp ststhsedrh gpsssvgtvi gtgtgglvea ggqpqprsse tngspspdpp
         721 pglrgegtre ksldplpqaa mprgpaqppa qrppgpaass sarrsqpvpq lrkrsrceia
         781 psseqevrpa asgdpqgeap geggspagrs galtekqeea rklmvflqrp ggwgvvegpr
         841 kpssralepa taaalrrrld lgscldvlaf aqqhgepgla qetyalmsdn llrvlgdpcl
         901 yrrlsaadre rilslrtgrg ravlgvlvlp slyqggrsgl prgprgeepp aaapvslplp
         961 ahlhvfnpre ntwrpltqvp eeaplrgcgl ctmhnylfla ggirgsgaka vcsnevfcyn
        1021 pltniwsqvr pmqqaraqlk lvaldgllya iggeclysme cydprtdawt praplpagtf
        1081 pvaheavacr gdiyvtgghl fyrllryspv kdawdecpys ashrrssdiv alggflyrfd
        1141 llrgvgaavm ryntvtgsws raaslplpap aplhcttlgn tiyclnpqvt atftvsggta
        1201 qfqakelqpf plgstgvlsp filtlppedr lqtsl
   //

   
   
   

   Conserved Domains (3) summary

   sd00038
   Location:986 → 1032

   Kelch; KELCH repeat [structural motif]

   cl26464
   Location:52 → 421

   Atrophin-1; Atrophin-1 family
   

   Atrophin-1 family

   Atrophin-1 is the protein product of the dentatorubral-pallidoluysian atrophy (DRPLA) gene. DRPLA OMIM:125370 is a progressive neurodegenerative disorder. It is caused by the expansion of a CAG repeat in the DRPLA gene on chromosome 12p. This results in an extended polyglutamine region in atrophin-1, that is thought to confer toxicity to the protein, possibly through altering its interactions with other proteins. The expansion of a CAG repeat is also the underlying defect in six other neurodegenerative disorders, including Huntington's disease. One interaction of expanded polyglutamine repeats that is thought to be pathogenic is that with the short glutamine repeat in the transcriptional coactivator CREB binding protein, CBP. This interaction draws CBP away from its usual nuclear location to the expanded polyglutamine repeat protein aggregates that are characteristic of the polyglutamine neurodegenerative disorders. This interferes with CBP-mediated transcription and causes cytotoxicity.

   cl28614
   Location:966 → 1138

   BTB; Broad-Complex, Tramtrack and Bric a brac