ASXL1
entrez
171023
canonical
uniprot
Q8IXJ9
canonical
ensembl
ENSG00000171456
resolver
ensp
ENSP00000305119
resolver
ensp
ENSP00000364839
resolver
ensp
ENSP00000493987
resolver
ensp
ENSP00000495053
resolver
ensp
ENSP00000576032
resolver
ensp
ENSP00000585147
resolver
enst
ENST00000646367
resolver
enst
ENST00000646985
resolver
genesymbol
ASXL1
resolver
genesymbol_syn
KIAA0978
resolver
hgnc
HGNC:18318
resolver
uniprot
A0A2R8Y4U3
resolver
uniprot
A0A2R8Y5U1
resolver
uniprot
B2RP59
resolver
uniprot
Q498B9
resolver
uniprot
Q5JWS9
resolver
uniprot
Q8IYY7
resolver
uniprot
Q9H466
resolver
uniprot
Q9NQF8
resolver
uniprot
Q9UFJ0
resolver
uniprot
Q9UFP8
resolver
uniprot
Q9Y2I4
resolver
uniprot_entry
A0A2R8Y4U3_HUMAN
resolver
uniprot_entry
A0A2R8Y5U1_HUMAN
resolver
uniprot_entry
ASXL1_HUMAN
resolver
uniprot_entry
Q498B9_HUMAN
resolver
uniprot_sec
B2RP59
resolver
uniprot_sec
Q5JWS9
resolver
uniprot_sec
Q8IYY7
resolver
uniprot_sec
Q9H466
resolver
uniprot_sec
Q9NQF8
resolver
uniprot_sec
Q9UFJ0
resolver
uniprot_sec
Q9UFP8
resolver
uniprot_sec
Q9Y2I4
resolver
amino_acid_sequence
MKDKQKKKKERTWAEAARLVLENYSDAPMTPKQILQVIEAEGLKEMRSGTSPLACLNAMLHSNSRGGEGLFYKLPGRISLFTLKKDALQWSRHPATVEGEEPEDTADVESCGSNEASTVSGENDVSLDETSSNASCSTESQSRPLSNPRDSYRASSQANKQKKKTGVMLPRVVLTPLKVNGAHVESASGFSGCHADGESGSPSSSSSGSLALGSAAIRGQAEVTQDPAPLLRGFRKPATGQMKRNRGEEIDFETPGSILVNTNLRALINSRTFHALPSHFQQQLLFLLPEVDRQVGTDGLLRLSSSALNNEFFTHAAQSWRERLADGEFTHEMQVRIRQEMEKEKKVEQWKEKFFEDYYGQKLGLTKEESLQQNVGQEEAEIKSGLCVPGESVRIQRGPATRQRDGHFKKRSRPDLRTRARRNLYKKQESEQAGVAKDAKSVASDVPLYKDGEAKTDPAGLSSPHLPGTSSAAPDLEGPEFPVESVASRIQAEPDNLARASASPDRIPSLPQETVDQEPKDQKRKSFEQAASASFPEKKPRLEDRQSFRNTIESVHTEKPQPTKEEPKVPPIRIQLSRIKPPWVVKGQPTYQICPRIIPTTESSCRGWTGARTLADIKARALQVRGARGHHCHREAATTAIGGGGGPGGGGGGATDEGGGRGSSSGDGGEACGHPEPRGGPSTPGKCTSDLQRTQLLPPYPLNGEHTQAGTAMSRARREDLPSLRKEESCLLQRATVGLTDGLGDASQLPVAPTGDQPCQALPLLSSQTSVAERLVEQPQLHPDVRTECESGTTSWESDDEEQGPTVPADNGPIPSLVGDDTLEKGTGQALDSHPTMKDPVNVTPSSTPESSPTDCLQNRAFDDELGLGGSCPPMRESDTRQENLKTKALVSNSSLHWIPIPSNDEVVKQPKPESREHIPSVEPQVGEEWEKAAPTPPALPGDLTAEEGLDPLDSLTSLWTVPSRGGSDSNGSYCQQVDIEKLKINGDSEALSPHGESTDTASDFEGHLTEDSSEADTREAAVTKGSSVDKDEKPNWNQSAPLSKVNGDMRLVTRTDGMVAPQSWVSRVCAVRQKIPDSLLLASTEYQPRAVCLSMPGSSVEATNPLVMQLLQGSLPLEKVLPPAHDDSMSESPQVPLTKDQSHGSLRMGSLHGLGKNSGMVDGSSPSSLRALKEPLLPDSCETGTGLARIEATQAPGAPQKNCKAVPSFDSLHPVTNPITSSRKLEEMDSKEQFSSFSCEDQKEVRAMSQDSNSNAAPGKSPGDLTTSRTPRFSSPNVISFGPEQTGRALGDQSNVTGQGKKLFGSGNVAATLQRPRPADPMPLPAEIPPVFPSGKLGPSTNSMSGGVQTPREDWAPKPHAFVGSVKNEKTFVGGPLKANAENRKATGHSPLELVGHLEGMPFVMDLPFWKLPREPGKGLSEPLEPSSLPSQLSIKQAFYGKLSKLQLSSTSFNYSSSSPTFPKGLAGSVVQLSHKANFGASHSASLSLQMFTDSSTVESISLQCACSLKAMIMCQGCGAFCHDDCIGPSKLCVLCLVVR
uniprot
proteins
disease_involvement
DISEASE: Bohring-Opitz syndrome (BOPS) [MIM:605039]: A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound intellectual disability, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints. {ECO:0000269|PubMed:21706002}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myelodysplastic syndrome (MDS) [MIM:614286]: A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). {ECO:0000269|PubMed:19388938, ECO:0000269|PubMed:20182461}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:16606617). Acts as a coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). Acts as a corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:20436459, PubMed:30664650, PubMed:36180891). Acts as a sensor of N(6)-methyladenine methylation on DNA (6mA): recognizes and binds 6mA DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing (PubMed:30982744). The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signaling, cell proliferation and cell viability (PubMed:30664650, PubMed:36180891). ASXL1, ASXL2 and ASXL3 function redundantly in the PR-DUB complex (By similarity) (PubMed:30664650). The ASXL proteins are essential for chromatin recruitment and transcriptional activation of associated genes (By similarity). ASXL1 and ASXL2 are important for BAP1 protein stability (PubMed:30664650). Together with BAP1, negatively regulates epithelial-mesenchymal transition (EMT) of trophoblast stem cells during placental development by regulating genes involved in epithelial cell integrity, cell adhesion and cytoskeletal organization (PubMed:34170818). {ECO:0000250|UniProtKB:P59598, ECO:0000269|PubMed:16606617, ECO:0000269|PubMed:20436459, ECO:0000269|PubMed:30664650, ECO:0000269|PubMed:30982744, ECO:0000269|PubMed:34170818, ECO:0000269|PubMed:36180891}.
uniprot
proteins
mass_dalton
165432
uniprot
proteins
mutagenesis
MUTAGEN 243..246; /note="KRNR->AANA: Reduced PR-DUB complex deubiquitination activity towards H2AK119ub1 substrates in the context of the nucleosome, but no disruption of PR-DUB nucleosome association."; /evidence="ECO:0000269|PubMed:37556531"; MUTAGEN 262; /note="T->W: Reduced PR-DUB complex deubiquitination activity towards H2AK119ub1 substrates in the context of the nucleosome, but no disruption of PR-DUB nucleosome association."; /evidence="ECO:0000269|PubMed:36991118"; MUTAGEN 267; /note="L->R: Reduced PR-DUB complex deubiquitination activity towards H2AK119ub1 substrates in the context of the nucleosome, but no disruption of PR-DUB nucleosome association."; /evidence="ECO:0000269|PubMed:36991118"; MUTAGEN 336..346; /note="RIRQEMEKEKK->AIAQEMEAEAA: Reduced PR-DUB complex deubiquitination activity towards H2AK119ub1 substrates in the context of the nucleosome, but no disruption of PR-DUB nucleosome association."; /evidence="ECO:0000269|PubMed:37556531"; MUTAGEN 1108; /note="V->A: Abolishes interaction with RARA."; /evidence="ECO:0000269|PubMed:16606617"; MUTAGEN 1111; /note="L->A: Abolishes interaction with RARA."; /evidence="ECO:0000269|PubMed:16606617
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by TRIP12, leading to its subsequent degradation following binding of N(6)-methyladenine methylated DNA (6mA). {ECO:0000269|PubMed:30982744}.
uniprot
proteins
protein_family
Asx family
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12657473
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16606617
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19388938
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19880879
uniprot
proteins
pubmed
20182461
uniprot
proteins
pubmed
20436459
uniprot
proteins
pubmed
21706002
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24634419
uniprot
proteins
pubmed
25750265
uniprot
proteins
pubmed
30664650
uniprot
proteins
pubmed
30982744
uniprot
proteins
pubmed
34170818
uniprot
proteins
pubmed
36180891
uniprot
proteins
pubmed
36991118
uniprot
proteins
pubmed
37556531
uniprot
proteins
sequence_length
1541
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins