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_001129467.1LOCUS 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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