InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ASXL1

Summary

InnateDB Protein

IDBP-65109.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ASXL1

Protein Name

additional sex combs like 1 (Drosophila)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000364839

InnateDB Gene

IDBG-65101 (ASXL1)

Protein Structure

UniProt Annotation

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:0000269PubMed:16606617, ECO:0000269PubMed:20436459}.

Subcellular Localization

Nucleus {ECO:0000250}.

Disease Associations

Bohring-Opitz syndrome (BOPS) [MIM:605039]: A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, 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:0000269PubMed:21706002}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:19388938, ECO:0000269PubMed:20182461}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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:0000269PubMed:10231032, ECO:0000269PubMed:12657473}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	28 [view]
Protein-Protein	28 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003713	transcription coactivator activity
GO:0003714	transcription corepressor activity
GO:0005515	protein binding
GO:0042974	retinoic acid receptor binding
GO:0042975	peroxisome proliferator activated receptor binding
GO:0046872	metal ion binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006351	transcription, DNA-templated
GO:0032526	response to retinoic acid
GO:0035359	negative regulation of peroxisome proliferator activated receptor signaling pathway
GO:0035522	monoubiquitinated histone H2A deubiquitination
GO:0045599	negative regulation of fat cell differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048386	positive regulation of retinoic acid receptor signaling pathway
GO:0048387	negative regulation of retinoic acid receptor signaling pathway
GO:0060348	bone development