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

    Gene ID: 80816, updated on 7-Sep-2023

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ASXL3 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (33578219..33751195)
    RS_2023_03 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 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 uncharacterized LOC124904279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:31802111-31802612 Neighboring gene uncharacterized LOC124904280

    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

    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

    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

    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)

    NEW Try the new Transcript table

    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
      Q6ZMX6, Q96MU3, Q9C0F0, Q9UFC5
      UniProtKB/TrEMBL
      A0A7P0TAE5
      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: GCF_000001405.40-RS_2023_03

    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_005258356.2XP_005258413.1  putative Polycomb group protein ASXL3 isoform X1

      UniProtKB/TrEMBL
      A0A7P0TAE5, A0A8V8TKV8
      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_011526205.3XP_011524507.1  putative Polycomb group protein ASXL3 isoform X2

      UniProtKB/TrEMBL
      A0A7P0TAE5
      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
    3. XM_017026012.1XP_016881501.1  putative Polycomb group protein ASXL3 isoform X3

      UniProtKB/TrEMBL
      A0A7P0TAE5
      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
    4. XM_011526206.3XP_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: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_024451269.2XP_024307037.1  putative Polycomb group protein ASXL3 isoform X4

      UniProtKB/TrEMBL
      A0A7P0TAE5
      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_011526209.2XP_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: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]
    7. XM_011526212.2XP_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: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]

    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_054319224.1XP_054175199.1  putative Polycomb group protein ASXL3 isoform X1

      UniProtKB/TrEMBL
      A0A7P0TAE5
    2. XM_054319225.1XP_054175200.1  putative Polycomb group protein ASXL3 isoform X2

      UniProtKB/TrEMBL
      A0A7P0TAE5
    3. XM_054319226.1XP_054175201.1  putative Polycomb group protein ASXL3 isoform X3

      UniProtKB/TrEMBL
      A0A7P0TAE5
    4. XM_054319227.1XP_054175202.1  putative Polycomb group protein ASXL3 isoform X3

      UniProtKB/TrEMBL
      A0A7P0TAE5
    5. XM_054319229.1XP_054175204.1  putative Polycomb group protein ASXL3 isoform X4

      UniProtKB/TrEMBL
      A0A7P0TAE5
    6. XM_054319228.1XP_054175203.1  putative Polycomb group protein ASXL3 isoform X4

      UniProtKB/TrEMBL
      A0A7P0TAE5
    7. XM_054319230.1XP_054175205.1  putative Polycomb group protein ASXL3 isoform X4

      UniProtKB/TrEMBL
      A0A7P0TAE5