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 enable chromatin binding activity and peroxisome proliferator activated receptor binding activity. Acts upstream of or within monocyte proliferation and regulation of neutrophil differentiation. Predicted to be located in nucleus. Predicted to be part of PR-DUB complex. Is expressed in head kidney; immature eye; lateral mesoderm; and nervous system. 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
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
Allele Type Localization Consequence Mutagen Supplier
sa32451Allele with one point mutationUnknownPremature StopENU
sa44017Allele with one point mutationUnknownPremature StopENU
sa45806Allele with one point mutationUnknownPremature StopENU
sa45807Allele with one point mutationUnknownPremature StopENU
sm18Allele with one deletionExon 12UnknownCRISPR
sm19Allele with one deletionExon 12UnknownCRISPR
zdf34Allele with one deletionExon 2Premature StopTALEN
zdf35Allele with one deletionExon 2Premature StopTALEN
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Sequence Targeting Reagents
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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
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Associated With asxl1 Via Experimental Models
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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
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Domain Details Per Protein
Protein Length ASX, DEUBAD domain ASXL, HARE-HTH domain DEUBAD domain Polycomb protein ASX/ASX-like Protein ASX-like, PHD domain
UniProtKB:A0A8M2B9F5 1659
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 23
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA asxl1-201 (1) Ensembl 4,806 nt
mRNA asxl1-202 (1) Ensembl 5,881 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-202M22ZFIN Curated Data
ContainsSTSchunp30526
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanASXL120
Amino acid sequence comparison (1)
MouseAsxl12
Amino acid sequence comparison (1)
Citations
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