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ASXL1

January 01, 1970

Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene.[5][6]

ASXL1
Identifiers
AliasesASXL1, BOPS, MDS, additional sex combs like 1, transcriptional regulator, ASXL transcriptional regulator 1
External IDsOMIM: 612990 MGI: 2684063 HomoloGene: 9098 GeneCards: ASXL1
Orthologs
SpeciesHumanMouse
Entrez

171023

228790

Ensembl

ENSG00000171456

ENSMUSG00000042548

UniProt

Q8IXJ9

P59598

RefSeq (mRNA)

NM_001164603
NM_015338
NM_001363734

NM_001039939

RefSeq (protein)

NP_001158075
NP_056153
NP_001350663
NP_001158075.1

NP_001035028

Location (UCSC)Chr 20: 32.36 – 32.44 MbChr 2: 153.19 – 153.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

In Drosophila, the Additional sex combs (Asx) gene encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants.[6]

See also edit

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171456 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042548 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Fisher CL, Berger J, Randazzo F, Brock HW (Mar 2003). "A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11". Gene. 306: 115–26. doi:10.1016/S0378-1119(03)00430-X. PMID 12657473.
  6. ^ a b "ASXL1 ASXL transcriptional regulator 1 [ Homo sapiens (human) ]".

External links edit

Further reading edit

  • Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
  • Sinclair DA, Campbell RB, Nicholls F, et al. (1992). "Genetic Analysis of the Additional Sex Combs Locus of Drosophila Melanogaster". Genetics. 130 (4): 817–25. doi:10.1093/genetics/130.4.817. PMC 1204931. PMID 1349871.
  • Sinclair DA, Milne TA, Hodgson JW, et al. (1998). "The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes". Development. 125 (7): 1207–16. doi:10.1242/dev.125.7.1207. PMID 9477319.
  • Nagase T, Ishikawa K, Suyama M, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032.
  • Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi:10.1038/414865a. PMID 11780052.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.


 

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it.

January 01, 1970
asxl1, putative, polycomb, group, protein, protein, that, humans, encoded, gene, identifiersaliases, bops, additional, combs, like, transcriptional, regulator, asxl, transcriptional, regulator, 1external, idsomim, 612990, 2684063, homologene, 9098, genecards, . Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene 5 6 ASXL1IdentifiersAliasesASXL1 BOPS MDS additional sex combs like 1 transcriptional regulator ASXL transcriptional regulator 1External IDsOMIM 612990 MGI 2684063 HomoloGene 9098 GeneCards ASXL1Gene location Human Chr Chromosome 20 human 1 Band20q11 21Start32 358 330 bp 1 End32 439 319 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 2 H1Start153 187 749 bp 2 End153 245 927 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insural nervespermgastric mucosabody of pancreasoocyteleft lobe of thyroid glandnippleright lungright lobe of thyroid glandupper lobe of left lungTop expressed inprimitive streakrenal corpusclecondylemedullary collecting ductsecondary oocytefossaspermatidsubstantia nigramotor neuronexternal carotid arteryMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding metal ion binding protein binding peroxisome proliferator activated receptor binding transcription coactivator activity retinoic acid receptor binding chromatin bindingCellular componentPR DUB complex nucleus nucleoplasmBiological processregulation of transcription DNA templated heart morphogenesis monoubiquitinated histone H2A deubiquitination transcription DNA templated lung saccule development bone development negative regulation of fat cell differentiation positive regulation of retinoic acid receptor signaling pathway negative regulation of peroxisome proliferator activated receptor signaling pathway positive regulation of transcription by RNA polymerase II response to retinoic acid cell morphogenesis animal organ morphogenesis protein deubiquitination hematopoietic or lymphoid organ development thymus development bone marrow development homeostasis of number of cells chromatin organization hemopoiesisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez171023228790EnsemblENSG00000171456ENSMUSG00000042548UniProtQ8IXJ9P59598RefSeq mRNA NM 001164603NM 015338NM 001363734NM 001039939RefSeq protein NP 001158075NP 056153NP 001350663NP 001158075 1NP 001035028Location UCSC Chr 20 32 36 32 44 MbChr 2 153 19 153 25 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse In Drosophila the Additional sex combs Asx gene encodes a chromatin binding protein required for normal determination of segment identity in the developing embryo The protein is a member of the Polycomb group of proteins which are necessary for the maintenance of stable repression of homeotic and other loci The protein is thought to disrupt chromatin in localized areas enhancing transcription of certain genes while repressing the transcription of other genes The protein encoded by this gene functions as a ligand dependent co activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1 Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia Alternative splicing results in multiple transcript variants 6 Contents 1 See also 2 References 3 External links 4 Further readingSee also editASXL2 ASXL3References edit a b c GRCh38 Ensembl release 89 ENSG00000171456 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000042548 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Fisher CL Berger J Randazzo F Brock HW Mar 2003 A human homolog of Additional sex combs ADDITIONAL SEX COMBS LIKE 1 maps to chromosome 20q11 Gene 306 115 26 doi 10 1016 S0378 1119 03 00430 X PMID 12657473 a b ASXL1 ASXL transcriptional regulator 1 Homo sapiens human External links editHuman ASXL1 genome location and ASXL1 gene details page in the UCSC Genome Browser Further reading editNakajima D Okazaki N Yamakawa H et al 2003 Construction of expression ready cDNA clones for KIAA genes manual curation of 330 KIAA cDNA clones DNA Res 9 3 99 106 doi 10 1093 dnares 9 3 99 PMID 12168954 Sinclair DA Campbell RB Nicholls F et al 1992 Genetic Analysis of the Additional Sex Combs Locus of Drosophila Melanogaster Genetics 130 4 817 25 doi 10 1093 genetics 130 4 817 PMC 1204931 PMID 1349871 Sinclair DA Milne TA Hodgson JW et al 1998 The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes Development 125 7 1207 16 doi 10 1242 dev 125 7 1207 PMID 9477319 Nagase T Ishikawa K Suyama M et al 1999 Prediction of the coding sequences of unidentified human genes XIII The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro DNA Res 6 1 63 70 doi 10 1093 dnares 6 1 63 PMID 10231032 Deloukas P Matthews LH Ashurst J et al 2002 The DNA sequence and comparative analysis of human chromosome 20 Nature 414 6866 865 71 Bibcode 2001Natur 414 865D doi 10 1038 414865a PMID 11780052 Strausberg RL Feingold EA Grouse LH et al 2003 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 16899 903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Ota T Suzuki Y Nishikawa T et al 2004 Complete sequencing and characterization of 21 243 full length human cDNAs Nat Genet 36 1 40 5 doi 10 1038 ng1285 PMID 14702039 Gerhard DS Wagner L Feingold EA et al 2004 The Status Quality and Expansion of the NIH Full Length cDNA Project The Mammalian Gene Collection MGC Genome Res 14 10B 2121 7 doi 10 1101 gr 2596504 PMC 528928 PMID 15489334 nbsp This article on a gene on human chromosome 20 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title ASXL1 amp oldid 1190646570, wikipedia, wiki, book, books, library,

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