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Gene: ASXL1 (ASXL transcriptional regulator 1) Homo sapiens
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Symbol: ASXL1
Name: ASXL transcriptional regulator 1
Description: Predicted to have chromatin binding activity; signaling receptor binding activity; and transcription coactivator activity. Involved in monoubiquitinated histone H2A deubiquitination. Localizes to PR-DUB complex. Predicted to colocalize with nuclear chromatin. Implicated in SM-AHNMD; acute myeloid leukemia; chronic myelomonocytic leukemia; myelodysplastic syndrome; and myelofibrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: additional sex combs like 1; additional sex combs like 1, transcriptional regulator; additional sex combs like transcriptional regulator 1; additional sex combs-like protein 1; BOPS; KIAA0978; MDS; MGC117280; MGC71111; polycomb group protein ASXL1; putative Polycomb group protein ASXL1
Orthologs:
Mus musculus (house mouse) : Asxl1 (additional sex combs like 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Asxl1 (ASXL transcriptional regulator 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Asxl1 (ASXL transcriptional regulator 1)
Pan paniscus (bonobo/pygmy chimpanzee) : ASXL1 (ASXL transcriptional regulator 1)
Canis lupus familiaris (dog) : ASXL1 (ASXL transcriptional regulator 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Asxl1 (ASXL transcriptional regulator 1)
Sus scrofa (pig) : ASXL1 (ASXL transcriptional regulator 1)
Chlorocebus sabaeus (African green monkey) : ASXL1 (ASXL transcriptional regulator 1)
Heterocephalus glaber (naked mole-rat) : Asxl1 (ASXL transcriptional regulator 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2032,358,330 - 32,439,319 (+)EnsemblGRCh38hg38GRCh38
GRCh382032,358,062 - 32,439,319 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372030,946,147 - 31,027,122 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362030,409,814 - 30,490,783 (+)NCBINCBI36hg18NCBI36
Build 342030,409,820 - 30,490,783NCBI
Celera2027,702,183 - 27,783,146 (+)NCBI
Cytogenetic Map20q11.21NCBI
HuRef2027,742,560 - 27,816,603 (+)NCBIHuRef
CHM1_12030,850,605 - 30,932,052 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ASXL1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1344611
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.