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Symbol report for ASXL1

Stable symbol

HGNC data for ASXL1

Approved symbol
ASXL1
Approved name

ASXL transcriptional regulator 1

Locus type
gene with protein product
HGNC ID
HGNC:18318
Symbol status
Approved
Previous names
additional sex combs like 1 (Drosophila)
additional sex combs like 1, transcriptional regulator
Alias symbols
KIAA0978
Chromosomal location
20q11.21
Bos taurus
ASXL1 VGNC:26228 VGNC
Canis familiaris
ASXL1 VGNC:38196 VGNC
Equus caballus
ASXL1 VGNC:15599 VGNC
Felis catus
ASXL1 VGNC:59984 VGNC
Macaca mulatta
ASXL1 VGNC:70095 VGNC
Mus musculus
Asxl1 MGI:2684063 Curated
Pan troglodytes
ASXL1 VGNC:6045 VGNC
Rattus norvegicus
Asxl1 RGD:1561878
Sus scrofa
ASXL1 VGNC:95881 VGNC
A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11.
Fisher CL et al. Gene 2003 Mar;306115-126
Fisher CL, Berger J, Randazzo F, Brock HW.
Gene 2003 Mar;306115-126
Abstract: The Additional sex combs (Asx) gene of Drosophila is an Enhancer of trithorax and Polycomb (ETP), and is required to maintain activation and silencing of homeotic loci. The molecular basis of this dual function is not understood. Here, we identify a human homolog of Asx, termed ADDITIONAL SEX COMBS-LIKE 1 (ASXL1). Overall, the amino acid sequence of ASXL1 has 21% identity and 41% similarity to Drosophila ASX. The ASXL1 protein contains a 118 amino acid conserved amino terminal region of unknown function that we term the ASX homology domain (ASXH) that contains two LXXLL consensus sequences for nuclear receptor binding. ASXL1 also contains a conserved C-terminal cysteine cluster that is a variant of the PHD domain. Three ASXL1 transcripts of differing size are detected, which are widely expressed in adult tissues. ASXL1 maps to chromosome 20q11, a region frequently amplified in human tumors. Interestingly, ASXL1 is overexpressed in cell lines derived from carcinomas.