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    ASCL3 achaete-scute family bHLH transcription factor 3 [ Homo sapiens (human) ]

    Gene ID: 56676, updated on 5-Mar-2024

    Summary

    Official Symbol
    ASCL3provided by HGNC
    Official Full Name
    achaete-scute family bHLH transcription factor 3provided by HGNC
    Primary source
    HGNC:HGNC:740
    See related
    Ensembl:ENSG00000176009 MIM:609154; AllianceGenome:HGNC:740
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SGN1; HASH3; bHLHa42
    Summary
    Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in salivary gland (RPKM 1.2) and testis (RPKM 0.1) See more
    Orthologs
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    Genomic context

    See ASCL3 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (8937578..8943016, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (9021751..9027203, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (8959125..8964563, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene DENN domain containing 2B Neighboring gene RNA, 5S ribosomal pseudogene 330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8884480-8884980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8884981-8885481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8946857-8947641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8947642-8948425 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:8954113-8954951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4397 Neighboring gene chromosome 11 open reading frame 16 Neighboring gene A-kinase interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3118 Neighboring gene TMEM9B antisense RNA 1 Neighboring gene TMEM9 domain family member B Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:9000257-9001066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:9024725-9025644 Neighboring gene nuclear receptor interacting protein 3 Neighboring gene NRIP3 divergent transcript

    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

    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in salivary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory epithelium regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tissue homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     

    General protein information

    Preferred Names
    achaete-scute homolog 3
    Names
    achaete-scute complex homolog 3
    bHLH transcription factor Sgn-1 (Salivary Glands 1)
    bHLH transcriptional regulator Sgn-1
    class A basic helix-loop-helix protein 42

    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.

    mRNA and Protein(s)

    1. NM_020646.3NP_065697.1  achaete-scute homolog 3

      See identical proteins and their annotated locations for NP_065697.1

      Status: VALIDATED

      Source sequence(s)
      AC026894
      Consensus CDS
      CCDS7795.1
      UniProtKB/Swiss-Prot
      Q8WYQ6, Q9NQ33
      Related
      ENSP00000435770.1, ENST00000531618.2
      Conserved Domains (1) summary
      smart00353
      Location:99149
      HLH; helix loop helix domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      8937578..8943016 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      9021751..9027203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)