| Gene Symbol |
ASXL1
|
| Entrez Gene |
171023
|
| Alt Symbol |
BOPS, MDS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
additional sex combs like transcriptional regulator 1
|
| Other Description |
additional sex combs like 1|putative Polycomb group protein ASXL1
|
| Swissprots |
Q8IYY7 Q8IXJ9 Q9Y2I4 B2RP59 Q9UFP8 Q9H466 Q9NQF8 Q9UFJ0 Q5JWS9
|
| Accessions |
EAW76377 EAW76378 EAW76379 EAW76380 Q8IXJ9 AB023195 BAA76822 AB084280 BAD00087 AJ438952 CAD27708 AK025756 AK122923 BAG53800 AL117518 CAB55975 AL117647 CAB56029 BC033284 AAH33284 BC064984 AAH64984 BC100280 AAI00281 BC137278 AAI37279 BC137280 AAI37281 BQ064719 BU686340 BX109122 CR977683 XM_006723727 XP_006723790 XM_006723728 XP_006723791 XM_006723730 XP_006723793 XM_006723732 XP_006723795 XM_006723733 XP_006723796 XM_011528647 XP_011526949 XM_011528648 XP_011526950 XM_011528649 XP_011526951 XM_011528650 XP_011526952 XM_011528651 XP_011526953 XM_011528652 XP_011526954 NM_001164603 NP_001158075 NM_015338 NP_056153
|
| 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). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor through recruitment of KDM1A and CBX5 to target genes in a cell-type specific manner; the function seems to involve differential recruitment of methylated histone H3 to respective promoters. Acts as 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). {ECO:0000250, ECO:0000269|PubMed:16606617, ECO:0000269|PubMed:20436459}.
|
| Subcellular Location |
Nucleus {ECO:0000250}.
|
| 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:0000269|PubMed:10231032, ECO:0000269|PubMed:12657473}.
|