• Gene id: 171023

Gene Summary

• Gene Symbol: ASXL1   Gene   UCSC   Ensembl
• Aliases: BOPS, MDS
• Gene name: ASXL transcriptional regulator 1
• Alternate names: polycomb group protein ASXL1, additional sex combs like 1, transcriptional regulator, additional sex combs like transcriptional regulator 1, putative Polycomb group protein ASXL1,
• Gene location: 20q11.21 (32358061: 32439318)     Exons: 18     NC_000020.11
• Gene summary(Entrez): This gene is similar to the Drosophila additional sex combs gene, which 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 ar
• OMIM: 612990

Protein Summary

• Protein general information: Q8IXJ9  
  • Name: Polycomb group protein ASXL1 (Additional sex combs like protein 1)
  • Length: 1541  
  • Mass: 165432
  • Tissue specificity: Widely expressed at low level. Expressed in heart, brain, skeletal muscle, placenta, pancreas, spleen, prostate, small intestine, colon, peripheral blood, leukocytes, bone marrow and fetal liver. Highly expressed in testes. {ECO
• Sequence:

  MKDKQKKKKERTWAEAARLVLENYSDAPMTPKQILQVIEAEGLKEMRSGTSPLACLNAMLHSNSRGGEGLFYKLP
  GRISLFTLKKDALQWSRHPATVEGEEPEDTADVESCGSNEASTVSGENDVSLDETSSNASCSTESQSRPLSNPRD
  SYRASSQANKQKKKTGVMLPRVVLTPLKVNGAHVESASGFSGCHADGESGSPSSSSSGSLALGSAAIRGQAEVTQ
  DPAPLLRGFRKPATGQMKRNRGEEIDFETPGSILVNTNLRALINSRTFHALPSHFQQQLLFLLPEVDRQVGTDGL
  LRLSSSALNNEFFTHAAQSWRERLADGEFTHEMQVRIRQEMEKEKKVEQWKEKFFEDYYGQKLGLTKEESLQQNV
  GQEEAEIKSGLCVPGESVRIQRGPATRQRDGHFKKRSRPDLRTRARRNLYKKQESEQAGVAKDAKSVASDVPLYK
  DGEAKTDPAGLSSPHLPGTSSAAPDLEGPEFPVESVASRIQAEPDNLARASASPDRIPSLPQETVDQEPKDQKRK
  SFEQAASASFPEKKPRLEDRQSFRNTIESVHTEKPQPTKEEPKVPPIRIQLSRIKPPWVVKGQPTYQICPRIIPT
  TESSCRGWTGARTLADIKARALQVRGARGHHCHREAATTAIGGGGGPGGGGGGATDEGGGRGSSSGDGGEACGHP
  EPRGGPSTPGKCTSDLQRTQLLPPYPLNGEHTQAGTAMSRARREDLPSLRKEESCLLQRATVGLTDGLGDASQLP
  VAPTGDQPCQALPLLSSQTSVAERLVEQPQLHPDVRTECESGTTSWESDDEEQGPTVPADNGPIPSLVGDDTLEK
  GTGQALDSHPTMKDPVNVTPSSTPESSPTDCLQNRAFDDELGLGGSCPPMRESDTRQENLKTKALVSNSSLHWIP
  IPSNDEVVKQPKPESREHIPSVEPQVGEEWEKAAPTPPALPGDLTAEEGLDPLDSLTSLWTVPSRGGSDSNGSYC
  QQVDIEKLKINGDSEALSPHGESTDTASDFEGHLTEDSSEADTREAAVTKGSSVDKDEKPNWNQSAPLSKVNGDM
  RLVTRTDGMVAPQSWVSRVCAVRQKIPDSLLLASTEYQPRAVCLSMPGSSVEATNPLVMQLLQGSLPLEKVLPPA
  HDDSMSESPQVPLTKDQSHGSLRMGSLHGLGKNSGMVDGSSPSSLRALKEPLLPDSCETGTGLARIEATQAPGAP
  QKNCKAVPSFDSLHPVTNPITSSRKLEEMDSKEQFSSFSCEDQKEVRAMSQDSNSNAAPGKSPGDLTTSRTPRFS
  SPNVISFGPEQTGRALGDQSNVTGQGKKLFGSGNVAATLQRPRPADPMPLPAEIPPVFPSGKLGPSTNSMSGGVQ
  TPREDWAPKPHAFVGSVKNEKTFVGGPLKANAENRKATGHSPLELVGHLEGMPFVMDLPFWKLPREPGKGLSEPL
  EPSSLPSQLSIKQAFYGKLSKLQLSSTSFNYSSSSPTFPKGLAGSVVQLSHKANFGASHSASLSLQMFTDSSTVE
  SISLQCACSLKAMIMCQGCGAFCHDDCIGPSKLCVLCLVVR

• Structural information:
  • Protein Domains: (11..8-)
    (/note="HTH-HARE-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01261"-)
  • Interpro: IPR026905  IPR024811  IPR028020  IPR024815  IPR007759  
  • Prosite: PS51913
  • DIP: 46910
  • STRING: ENSP00000364839
• Other Databases: GeneCards:  ASXL1  Malacards:  ASXL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042975	peroxisome proliferator activated receptor binding	IBA	molecular function
GO:0009887	animal organ morphogenesis	IBA	biological process
GO:0003682	chromatin binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0035517	PR-DUB complex	IBA	cellular component
GO:0000790	nuclear chromatin	IBA	colocalizes with
GO:0035522	monoubiquitinated histone H2A deubiquitination	IDA	biological process
GO:0035517	PR-DUB complex	IDA	cellular component
GO:0048386	positive regulation of retinoic acid receptor signaling pathway	ISS	biological process
GO:0045599	negative regulation of fat cell differentiation	ISS	biological process
GO:0042975	peroxisome proliferator activated receptor binding	ISS	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0042974	retinoic acid receptor binding	ISS	molecular function
GO:0035359	negative regulation of peroxisome proliferator activated receptor signaling pathway	ISS	biological process
GO:0032526	response to retinoic acid	ISS	biological process
GO:0003713	transcription coactivator activity	ISS	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010888	negative regulation of lipid storage	IEA	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0042975	peroxisome proliferator activated receptor binding	IEA	molecular function
GO:0045599	negative regulation of fat cell differentiation	IEA	biological process
GO:0048386	positive regulation of retinoic acid receptor signaling pathway	IEA	biological process
GO:0048534	hematopoietic or lymphoid organ development	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0048539	bone marrow development	IEA	biological process
GO:0060430	lung saccule development	IEA	biological process
GO:0072015	glomerular visceral epithelial cell development	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0030097	hemopoiesis	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0035359	negative regulation of peroxisome proliferator activated receptor signaling pathway	IEA	biological process
GO:0035564	regulation of kidney size	IEA	biological process
GO:0042974	retinoic acid receptor binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Chronic myelomonocytic leukemia	KEGG:H02411
Myelodysplastic syndrome	KEGG:H01481
Atypical chronic myeloid leukemia	KEGG:H02412
Bohring-Opitz syndrome	KEGG:H02047
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Chronic myelomonocytic leukemia	KEGG:H02411
Myelodysplastic syndrome	KEGG:H01481
Atypical chronic myeloid leukemia	KEGG:H02412
Bohring-Opitz syndrome	KEGG:H02047
Myelodysplastic syndrome	PMID:23099237
chronic myelomonocytic leukemia	PMID:20880116
Myelofibrosis	PMID:23619563
acute myeloid leukemia	PMID:20693432
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq