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ASXL3 ASXL transcriptional regulator 3 [ Homo sapiens (human) ]

Gene ID: 80816, updated on 23-Nov-2021

Summary

Official Symbol
ASXL3provided by HGNC
Official Full Name
ASXL transcriptional regulator 3provided by HGNC
Primary source
HGNC:HGNC:29357
See related
Ensembl:ENSG00000141431 MIM:615115
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BRPS; KIAA1713
Summary
This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]
Expression
Biased expression in testis (RPKM 1.6), ovary (RPKM 1.3) and 12 other tissues See more
Orthologs
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Genomic context

See ASXL3 in Genome Data Viewer
Location:
18q12.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (33578219..33751195)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (31158183..31331159)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372059 Neighboring gene coiled-coil domain containing 178 Neighboring gene Sharpr-MPRA regulatory region 1696 Neighboring gene uncharacterized LOC107985157 Neighboring gene nucleolar protein 4 Neighboring gene ribosomal protein L10a pseudogene 13 Neighboring gene dystrobrevin alpha

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bainbridge-Ropers syndrome
MedGen: C3809650 OMIM: 615485 GeneReviews: ASXL3-Related Disorder
Compare labs
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Genome-wide association study of lung function phenotypes in a founder population.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2017-11-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2017-11-22)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of additional sex combs like 3 (ASXL3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables peroxisome proliferator activated receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of lipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of PR-DUB complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
putative Polycomb group protein ASXL3
Names
additional sex combs like 3, transcriptional regulator
additional sex combs like transcriptional regulator 3
additional sex combs-like protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_055244.1 RefSeqGene

    Range
    4643..177619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_030632.3NP_085135.1  putative Polycomb group protein ASXL3

    See identical proteins and their annotated locations for NP_085135.1

    Status: REVIEWED

    Source sequence(s)
    AC010798, AC023192, AK131454, BE145544, DB090653
    Consensus CDS
    CCDS45847.1
    UniProtKB/Swiss-Prot
    Q9C0F0
    Related
    ENSP00000269197.4, ENST00000269197.12
    Conserved Domains (3) summary
    pfam05066
    Location:1181
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:235358
    ASXH; Asx homology domain
    pfam13922
    Location:21912246
    PHD_3; PHD domain of transcriptional enhancer, Asx

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    33578219..33751195
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258356.1XP_005258413.1  putative Polycomb group protein ASXL3 isoform X1

    Conserved Domains (3) summary
    pfam05066
    Location:1182
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:236359
    ASXH; Asx homology domain
    pfam13922
    Location:21922247
    PHD_3; PHD domain of transcriptional enhancer, Asx
  2. XM_011526209.1XP_011524511.1  putative Polycomb group protein ASXL3 isoform X4

    See identical proteins and their annotated locations for XP_011524511.1

    Conserved Domains (4) summary
    pfam13919
    Location:179302
    ASXH; Asx homology domain
    pfam13922
    Location:21352190
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam15712
    Location:643913
    NPAT_C; NPAT C terminus
    cl28246
    Location:338720
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  3. XM_011526205.2XP_011524507.1  putative Polycomb group protein ASXL3 isoform X2

    Conserved Domains (3) summary
    pfam05066
    Location:873
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:227350
    ASXH; Asx homology domain
    pfam13922
    Location:21832238
    PHD_3; PHD domain of transcriptional enhancer, Asx
  4. XM_011526206.2XP_011524508.1  putative Polycomb group protein ASXL3 isoform X3

    See identical proteins and their annotated locations for XP_011524508.1

    Conserved Domains (3) summary
    pfam05066
    Location:155
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:209332
    ASXH; Asx homology domain
    pfam13922
    Location:21652220
    PHD_3; PHD domain of transcriptional enhancer, Asx
  5. XM_017026013.1XP_016881502.1  putative Polycomb group protein ASXL3 isoform X4

    Conserved Domains (4) summary
    pfam13919
    Location:179302
    ASXH; Asx homology domain
    pfam13922
    Location:21352190
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam15712
    Location:643913
    NPAT_C; NPAT C terminus
    cl28246
    Location:338720
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  6. XM_017026012.1XP_016881501.1  putative Polycomb group protein ASXL3 isoform X3

    Conserved Domains (3) summary
    pfam05066
    Location:155
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:209332
    ASXH; Asx homology domain
    pfam13922
    Location:21652220
    PHD_3; PHD domain of transcriptional enhancer, Asx
  7. XM_017026014.2XP_016881503.1  putative Polycomb group protein ASXL3 isoform X4

    Conserved Domains (4) summary
    pfam13919
    Location:179302
    ASXH; Asx homology domain
    pfam13922
    Location:21352190
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam15712
    Location:643913
    NPAT_C; NPAT C terminus
    cl28246
    Location:338720
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  8. XM_011526213.2XP_011524515.1  putative Polycomb group protein ASXL3 isoform X4

    See identical proteins and their annotated locations for XP_011524515.1

    Conserved Domains (4) summary
    pfam13919
    Location:179302
    ASXH; Asx homology domain
    pfam13922
    Location:21352190
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam15712
    Location:643913
    NPAT_C; NPAT C terminus
    cl28246
    Location:338720
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  9. XM_011526212.1XP_011524514.1  putative Polycomb group protein ASXL3 isoform X4

    See identical proteins and their annotated locations for XP_011524514.1

    Conserved Domains (4) summary
    pfam13919
    Location:179302
    ASXH; Asx homology domain
    pfam13922
    Location:21352190
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam15712
    Location:643913
    NPAT_C; NPAT C terminus
    cl28246
    Location:338720
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  10. XM_024451269.1XP_024307037.1  putative Polycomb group protein ASXL3 isoform X4

    Conserved Domains (4) summary
    pfam13919
    Location:179302
    ASXH; Asx homology domain
    pfam13922
    Location:21352190
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam15712
    Location:643913
    NPAT_C; NPAT C terminus
    cl28246
    Location:338720
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
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