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MIRAGE

ASXL transcriptional regulator 1

Summary

Gene Symbol

ASXL1

Organism

Homo sapiens (human)

External Links

NCBI Gene

171023

PubChem

171023

Alliance of Genome Resources

HGNC:18318

JoGo

ASXL1

TogoVar

ASXL1

Annotation

Keyword

3D-structure
Alternative splicing
Chromatin regulator
Craniosynostosis
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Repressor
Transcription
Transcription regulation
Ubl conjugation
Ubl conjugation pathway
Zinc-finger

Proteins

Displaying **all 3** entries
UniProt	Protein Name
Q8IXJ9	Additional sex combs-like protein 1
A0A2R8Y5U1
Q498B9

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 19 in total

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GO Term	Evidence Code	PMID
cell morphogenesis
heart morphogenesis
chromatin organization
regulation of DNA-templated transcription	IEA
regulation of transcription, DNA-templated	IEA

GO Hierarchy

biological process

cellular process [inference]

cellular developmental process [inference]

cell development [inference]

epithelial cell development [inference]

glomerular epithelial cell development [inference]

podocyte development

hemopoiesis

cellular component organization or biogenesis [inference]

cellular component organization [inference]

chromatin organization

multicellular organismal process [inference]

multicellular organismal-level homeostasis [inference]

homeostasis of number of cells

developmental process [inference]

anatomical structure morphogenesis [inference]

cell morphogenesis

animal organ morphogenesis

heart morphogenesis

anatomical structure development [inference]

tissue development [inference]

bone marrow development

cell development [inference]

epithelial cell development [inference]

glomerular epithelial cell development [inference]

podocyte development

hemopoiesis

animal organ development [inference]

hematopoietic or lymphoid organ development [inference]

gland development [inference]

thymus development

lung saccule development

cellular developmental process [inference]

cell development [inference]

epithelial cell development [inference]

glomerular epithelial cell development [inference]

podocyte development

hemopoiesis

homeostatic process [inference]

multicellular organismal-level homeostasis [inference]

homeostasis of number of cells

response to stimulus [inference]

response to chemical [inference]

response to lipid [inference]

response to retinoic acid

response to oxygen-containing compound [inference]

response to retinoic acid

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

regulation of intracellular signal transduction [inference]

regulation of peroxisome proliferator activated receptor signaling pathway [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

regulation of retinoic acid receptor signaling pathway [inference]

positive regulation of retinoic acid receptor signaling pathway

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

positive regulation of biological process [inference]

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

negative regulation of cell differentiation [inference]

negative regulation of fat cell differentiation

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

negative regulation of fat cell differentiation

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

regulation of intracellular signal transduction [inference]

regulation of peroxisome proliferator activated receptor signaling pathway [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

regulation of retinoic acid receptor signaling pathway [inference]

positive regulation of retinoic acid receptor signaling pathway

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

regulation of developmental process [inference]

regulation of cell differentiation [inference]

negative regulation of cell differentiation [inference]

negative regulation of fat cell differentiation

regulation of fat cell differentiation [inference]

negative regulation of fat cell differentiation

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

negative regulation of fat cell differentiation

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

regulation of intracellular signal transduction [inference]

regulation of peroxisome proliferator activated receptor signaling pathway [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

regulation of retinoic acid receptor signaling pathway [inference]

positive regulation of retinoic acid receptor signaling pathway

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of transcription, DNA-templated

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of transcription, DNA-templated

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cell differentiation [inference]

negative regulation of cell differentiation [inference]

negative regulation of fat cell differentiation

regulation of fat cell differentiation [inference]

negative regulation of fat cell differentiation

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of retinoic acid receptor signaling pathway

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of peroxisome proliferator activated receptor signaling pathway

negative regulation of cell differentiation [inference]

negative regulation of fat cell differentiation

regulation of biological quality [inference]

regulation of anatomical structure size [inference]

regulation of kidney size

Displaying **all 5** entries
GO Term	Evidence Code	PMID
nucleus	IEA
nucleoplasm	TAS
PR-DUB complex	IDA
PR-DUB complex	IBA
PR-DUB complex	IPI

GO Hierarchy

cellular component

protein-containing complex [inference]

nuclear protein-containing complex [inference]

PcG protein complex [inference]

PR-DUB complex

cellular anatomical structure [inference]

nucleoplasm

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

Displaying entries **1 - 5** of 8 in total

1

2

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GO Term	Evidence Code	PMID
DNA binding	IEA
chromatin binding	IBA
transcription coactivator activity	ISS
protein binding	IPI
zinc ion binding

GO Hierarchy

molecular function

binding [inference]

nucleic acid binding [inference]

DNA binding

chromatin binding

protein binding

signaling receptor binding [inference]

peroxisome proliferator activated receptor binding

transcription factor binding [inference]

DNA-binding transcription factor binding [inference]

RNA polymerase II-specific DNA-binding transcription factor binding [inference]

nuclear receptor binding [inference]

nuclear retinoic acid receptor binding

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

zinc ion binding

transcription regulator activity [inference]

transcription coregulator activity [inference]

transcription coactivator activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

polycomb group protein

Functional Category

K: Transcription
L: Replication, recombination and repair
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
animal organ morphogenesis
chromatin binding
metal ion binding
peroxisome proliferator activated receptor binding

Displaying **all 4** entries
InterPro
ASX, DEUBAD domain
ASXL, HARE-HTH domain
DEUBAD domain
Polycomb protein ASX/ASX-like

Disease

Disease Ontology

Displaying **all 5** entries
DO ID	Disease Name	Source
DOID:0050908	myelodysplastic syndrome	Alliance of Genome Resources
DOID:0080188	chronic myelomonocytic leukemia	Alliance of Genome Resources
DOID:4797	SM-AHNMD	Alliance of Genome Resources
DOID:4971	myelofibrosis	Alliance of Genome Resources
DOID:9119	acute myeloid leukemia	Alliance of Genome Resources

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Last updated: April 6, 2026