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fredag 29 juni 2018

ATXN3L (Xp22.2) MJDL

Tämän geenin koodamaa deubkitinaasi on   kemiallisesti testattuna teholtaan voimakkaampi kuin ATX3 geenin deubikitinaasi (ATXN3) verrattuna synteettiseen valmisteeseen. Näyttää siltä että tiedemiehet  oat  varuillaan tämän proteiinin ja geenin suhteen, koska seuraava  tieto on esiinseulottuna 2015. Se näyttää deubikitinoivan  tärkeän  tekijän  " Krüppel-like factor 5". KLF5 


KLF5 kuuluu laajan  ZNF proteiinijoukon suurimpaan  ryhmään : niiden  tunnus on Znf C2H2- tyyppisesti koordinoitunut sinkki ( ZNF onryhmänimi).
 Näitä  ZNF-geenejä on  720 ja niistä  on 372,  jotka ovat transkriptiotekijäitä.

 https://www.ncbi.nlm.nih.gov/gene/92552
ATXN3L  
Also known as
MJDL
Summary
This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011]
Preferred Names
ataxin-3-like protein
Names
machado-Joseph disease protein 1-like
putative ataxin-3-like protein
ataxin-3-like protein [Homo sapiens]
NCBI Reference Sequence: NP_001129467.1
LOCUS       NP_001129467             355 aa            linear   PRI 24-JUN-2018
DEFINITION  ataxin-3-like protein [Homo sapiens].
ACCESSION   NP_001129467 XP_045705 XP_947648
VERSION     NP_001129467.1
DBSOURCE    REFSEQ: accession NM_001135995.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 355)
  AUTHORS   Ge F, Chen W, Qin J, Zhou Z, Liu R, Liu L, Tan J, Zou T, Li H, Ren
            G and Chen C.
  TITLE     Ataxin-3 like (ATXN3L), a member of the Josephin family of
            deubiquitinating enzymes, promotes breast cancer proliferation by
            deubiquitinating Kruppel-like factor 5 (KLF5)
  JOURNAL   Oncotarget 6 (25), 21369-21378 (2015)
   PUBMED   26079537
  REMARK    GeneRIF: ATXN3L has a role in the regulation of KLF5 stability in
            breast cancer
REFERENCE   2  (residues 1 to 355)
  AUTHORS   Weeks SD, Grasty KC, Hernandez-Cuebas L and Loll PJ.
  TITLE     Crystal structure of a Josephin-ubiquitin complex: evolutionary
            restraints on ataxin-3 deubiquitinating activity
  JOURNAL   J. Biol. Chem. 286 (6), 4555-4565 (2011)
   PUBMED   21118805
REFERENCE   3  (residues 1 to 355)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   4  (residues 1 to 355)
  AUTHORS   Ichikawa Y, Goto J, Hattori M, Toyoda A, Ishii K, Jeong SY, Hashida
            H, Masuda N, Ogata K, Kasai F, Hirai M, Maciel P, Rouleau GA,
            Sakaki Y and Kanazawa I.
  TITLE     The genomic structure and expression of MJD, the Machado-Joseph
            disease gene
  JOURNAL   J. Hum. Genet. 46 (7), 413-422 (2001)
   PUBMED   11450850
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK302365.1, BC137186.1,
            DB540973.1 and AB050195.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This intronless gene may be a pseudogene (PMID:11450850).
            This gene is similar to the multi-exon gene which encodes ataxin 3
            and contains a coding region which could encode a protein similar
            to ataxin 3. Mutations in the gene encoding ataxin 3 are associated
            with Machado-Joseph disease. [provided by RefSeq, Sep 2011].
FEATURES             Location/Qualifiers
     source          1..355
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     Protein         1..355
                     /product="ataxin-3-like protein"
                     /EC_number="3.4.19.12"
                     /note="putative ataxin-3-like protein; machado-Joseph
                     disease protein 1-like"
                     /calculated_mol_wt=40616
     Region          9..163
                     /region_name="Josephin"
                     /note="Josephin; pfam02099"
                     /db_xref="CDD:280299"
     Region          262..323
                     /region_name="SUIM_assoc"
                     /note="Unstructured region C-term to UIM in Ataxin3;
                     pfam16619"
                     /db_xref="CDD:293225"
     CDS             1..355
                     /gene="ATXN3L"
                     /gene_synonym="MJDL"
                     /coded_by="NM_001135995.1:466..1533"
                     /db_xref="CCDS:CCDS48080.1"
                     /db_xref="GeneID:92552"
                     /db_xref="HGNC:HGNC:24173"
                     /db_xref="MIM:300920"
ORIGIN      
        1 mdfifhekqe gflcaqhcln nllqgeyfsp velasiahql deeermrmae ggvtseeyla
       61 flqqpsenmd dtgffsiqvi snalkfwgle iihfnnpeyq klgidpiner sficnykqhw
      121 ftirkfgkhw fnlnsllagp elisdtclan flarlqqqay svfvvkgdlp dceadqllqi
      181 isveemdtpk lngkklvkqk ehrvyktvle kvseesdesg tsdqdeedfq ralelsrqet
      241 nredehlrst ielsmqgssg ntsqdlpkts cvtpaseqpk kikedyfekh qqeqkqqqqq
      301 sdlpghssyl herpttssra iesdlsddis egtvqaavdt ileimrknlk ikgek
//
 



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