ASXL1

Protein-coding gene in the species Homo sapiens
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; OMA:ASXL1 - orthologs
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for ASXL1
Genomic location for ASXL1
Band20q11.21Start32,358,330 bp[1]
End32,439,319 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for ASXL1
Genomic location for ASXL1
Band2|2 H1Start153,187,749 bp[2]
End153,245,927 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sural nerve

  • sperm

  • gastric mucosa

  • left testis

  • ventricular zone

  • body of pancreas

  • right testis

  • oocyte

  • epithelium of colon

  • left lobe of thyroid gland
Top expressed in
  • primitive streak

  • renal corpuscle

  • condyle

  • primary oocyte

  • medullary collecting duct

  • secondary oocyte

  • zygote

  • fossa

  • spermatid

  • Rostral migratory stream
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • DNA binding
  • metal ion binding
  • protein binding
  • peroxisome proliferator activated receptor binding
  • transcription coactivator activity
  • retinoic acid receptor binding
  • chromatin binding
Cellular component
  • PR-DUB complex
  • nucleus
  • nucleoplasm
Biological process
  • regulation 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
  • hemopoiesis
Sources:Amigo / QuickGO
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

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

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

References

  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

Further reading

  • 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.


  • v
  • t
  • e