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

Gene ID: 80816, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:29357
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

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See ASXL3 in Genome Data Viewer
Location:
18q12.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (33578219..33751195)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (33769917..33942920)
105.20220307 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 LOC107985186 Neighboring gene uncharacterized LOC105372059 Neighboring gene coiled-coil domain containing 178 Neighboring gene Sharpr-MPRA regulatory region 1696 Neighboring gene NANOG hESC enhancer GRCh37_chr18:30880684-30881216 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:31003580-31004779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:31157523-31158511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:31158512-31159499 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:31164967-31165678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9391 Neighboring gene uncharacterized LOC124904347 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:31416777-31417720 Neighboring gene NANOG hESC enhancer GRCh37_chr18:31583567-31584247 Neighboring gene nucleolar protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9392 Neighboring gene uncharacterized LOC124904279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:31802111-31802612 Neighboring gene uncharacterized LOC124904280 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:31864116-31864338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13214

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. Schirwani S, et al. Am J Med Genet A, 2023 Jan. PMID 36177608, Free PMC Article
  2. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Schirwani S, et al. Am J Med Genet A, 2021 Nov. PMID 34436830
  3. Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions. Yu KP, et al. Eur J Med Genet, 2021 Jan. PMID 33242595
  4. ASXL3-Related Disorder. Adam MP, et al. , 1993. PMID 33151654
  5. Mosaicism in ASXL3-related syndrome: Description of five patients from three families. Schirwani S, et al. Eur J Med Genet, 2020 Jun. PMID 32240826

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
    Title: Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
  2. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
    Title: Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
  3. Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
    Title: Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
  4. ASXL3 bridges BRD4 to BAP1 complex and governs enhancer activity in small cell lung cancer.
    Title: ASXL3 bridges BRD4 to BAP1 complex and governs enhancer activity in small cell lung cancer.
  5. Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.
    Title: Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.
  6. Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease.
    Title: Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease.
  7. Mosaicism in ASXL3-related syndrome: Description of five patients from three families.
    Title: Mosaicism in ASXL3-related syndrome: Description of five patients from three families.
  8. Truncating de novo mutations in ASXL3 cause Bainbridge-Ropers syndrome (BRPS), a developmental disorder with similarities to Bohring-Opitz syndrome. to our knowledge, this is the first report of the disorder in two related individuals. Our findings lend further support to intellectual disability, absent speech, autistic traits, hypotonia, and distinctive facial appearance as common emerging features of Bainbridge-Ropers f
    Title: A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
  9. Somatic mutations in AZXL3 were associated with sporadic parathyroid adenomas in a Chinese population.
    Title: Whole-Exome Sequencing Identifies Novel Recurrent Somatic Mutations in Sporadic Parathyroid Adenomas.
  10. A second mutation cluster region within ASXL3 in older patients with Bainbridge-Ropers syndrome expands the phenotypic spectrum of the disorder and highlights its high frequency.
    Title: Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog
Genome-wide association study of lung function phenotypes in a founder population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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
  
Process Evidence Code Pubs
involved_in animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
Component Evidence Code Pubs
part_of PR-DUB complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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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_030632.3 → NP_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
    Q6ZMX6, Q96MU3, Q9C0F0, Q9UFC5
    UniProtKB/TrEMBL
    A0A7P0TAE5
    Related
    ENSP00000269197.4, ENST00000269197.12
    Conserved Domains (3) summary
    pfam05066
    Location:11 → 81
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:235 → 358
    ASXH; Asx homology domain
    pfam13922
    Location:2191 → 2246
    PHD_3; PHD domain of transcriptional enhancer, Asx

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005258356.2 → XP_005258413.1  putative Polycomb group protein ASXL3 isoform X1

    UniProtKB/TrEMBL
    A0A7P0TAE5, A0A8V8TKV8
    Conserved Domains (3) summary
    pfam05066
    Location:11 → 82
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:236 → 359
    ASXH; Asx homology domain
    pfam13922
    Location:2192 → 2247
    PHD_3; PHD domain of transcriptional enhancer, Asx

  2. XM_011526205.3 → XP_011524507.1  putative Polycomb group protein ASXL3 isoform X2

    UniProtKB/TrEMBL
    A0A7P0TAE5
    Conserved Domains (3) summary
    pfam05066
    Location:8 → 73
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:227 → 350
    ASXH; Asx homology domain
    pfam13922
    Location:2183 → 2238
    PHD_3; PHD domain of transcriptional enhancer, Asx

  3. XM_017026012.1 → XP_016881501.1  putative Polycomb group protein ASXL3 isoform X3

    UniProtKB/TrEMBL
    A0A7P0TAE5
    Conserved Domains (3) summary
    pfam05066
    Location:1 → 55
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:209 → 332
    ASXH; Asx homology domain
    pfam13922
    Location:2165 → 2220
    PHD_3; PHD domain of transcriptional enhancer, Asx

  4. XM_011526206.3 → XP_011524508.1  putative Polycomb group protein ASXL3 isoform X3

    See identical proteins and their annotated locations for XP_011524508.1

    UniProtKB/TrEMBL
    A0A7P0TAE5
    Conserved Domains (3) summary
    pfam05066
    Location:1 → 55
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:209 → 332
    ASXH; Asx homology domain
    pfam13922
    Location:2165 → 2220
    PHD_3; PHD domain of transcriptional enhancer, Asx

  5. XM_024451269.2 → XP_024307037.1  putative Polycomb group protein ASXL3 isoform X4

    UniProtKB/TrEMBL
    A0A7P0TAE5
    Conserved Domains (4) summary
    pfam13919
    Location:179 → 302
    ASXH; Asx homology domain
    pfam13922
    Location:2135 → 2190
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam15712
    Location:643 → 913
    NPAT_C; NPAT C terminus
    cl28246
    Location:338 → 720
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

  6. XM_011526209.2 → XP_011524511.1  putative Polycomb group protein ASXL3 isoform X4

    See identical proteins and their annotated locations for XP_011524511.1

    UniProtKB/TrEMBL
    A0A7P0TAE5
    Conserved Domains (4) summary
    pfam13919
    Location:179 → 302
    ASXH; Asx homology domain
    pfam13922
    Location:2135 → 2190
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam15712
    Location:643 → 913
    NPAT_C; NPAT C terminus
    cl28246
    Location:338 → 720
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

  7. XM_011526212.2 → XP_011524514.1  putative Polycomb group protein ASXL3 isoform X4

    See identical proteins and their annotated locations for XP_011524514.1

    UniProtKB/TrEMBL
    A0A7P0TAE5
    Conserved Domains (4) summary
    pfam13919
    Location:179 → 302
    ASXH; Asx homology domain
    pfam13922
    Location:2135 → 2190
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam15712
    Location:643 → 913
    NPAT_C; NPAT C terminus
    cl28246
    Location:338 → 720
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    33769917..33942920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319224.1 → XP_054175199.1  putative Polycomb group protein ASXL3 isoform X1

  2. XM_054319225.1 → XP_054175200.1  putative Polycomb group protein ASXL3 isoform X2

  3. XM_054319226.1 → XP_054175201.1  putative Polycomb group protein ASXL3 isoform X3

  4. XM_054319227.1 → XP_054175202.1  putative Polycomb group protein ASXL3 isoform X3

  5. XM_054319229.1 → XP_054175204.1  putative Polycomb group protein ASXL3 isoform X4

  6. XM_054319228.1 → XP_054175203.1  putative Polycomb group protein ASXL3 isoform X4

  7. XM_054319230.1 → XP_054175205.1  putative Polycomb group protein ASXL3 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0F0.3 GenPept UniProtKB/Swiss-Prot:Q9C0F0

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