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

    Gene ID: 80816, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (33578219..33751195)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (33769917..33942920)
    RS_2024_09 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. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Koboldt DC, et al. Cold Spring Harb Mol Case Stud, 2018 Jun. PMID 29305346, Free PMC Article
    2. Functional and cancer genomics of ASXL family members. Katoh M. Br J Cancer, 2013 Jul 23. PMID 23736028, Free PMC Article
    3. De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. Dinwiddie DL, et al. BMC Med Genomics, 2013 Sep 17. PMID 24044690, Free PMC Article
    4. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Bainbridge MN, et al. Genome Med, 2013. PMID 23383720, Free PMC Article
    5. Unlike ASXL1 and ASXL2 mutations, ASXL3 mutations are rare events in acute myeloid leukemia with t(8;21). Duployez N, et al. Leuk Lymphoma, 2016. PMID 25856206

    See all (44) 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)

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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