Gene

asxl1

ID

ZDB-GENE-091116-9

Name

ASXL transcriptional regulator 1

Symbol

asxl1 Nomenclature History

Previous Names

si:dkey-202m22.4

Type

protein_coding_gene

Location

Chr: 23 Mapping Details/Browsers

Description

Predicted to have chromatin binding activity and peroxisome proliferator activated receptor binding activity. Predicted to be involved in animal organ morphogenesis and positive regulation of transcription by RNA polymerase II. Predicted to colocalize with nuclear chromatin. Used to study myeloproliferative neoplasm. Human ortholog(s) of this gene implicated in SM-AHNMD; acute myeloid leukemia; chronic myelomonocytic leukemia; myelodysplastic syndrome; and myelofibrosis. Orthologous to human ASXL1 (ASXL transcriptional regulator 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

6 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 13 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With asxl1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
myelodysplastic syndrome	Alliance	Myelodysplastic syndrome, somatic	614286
		Bohring-Opitz syndrome	605039

Associated With asxl1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
myeloproliferative neoplasm	asxl1^zdf34/+	standard conditions	Gjini et al., 2019

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR007759	ASXL, HARE-HTH domain
Domain	IPR026905	Protein ASX-like, PHD domain
Domain	IPR028020	ASX, DEUBAD domain
Domain	IPR044867	DEUBAD domain
Family	IPR024811	Polycomb protein ASX/ASX-like