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

Gene ID: 56676, updated on 21-Dec-2019

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
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

Genomic context

See ASCL3 in Genome Data Viewer
Location:
11p15.4
Exon count:
2
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (8937572..8943033, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (8959119..8964580, 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 chromosome 11 open reading frame 16 Neighboring gene A-kinase interacting protein 1 Neighboring gene TMEM9B antisense RNA 1 Neighboring gene TMEM9 domain family member B Neighboring gene uncharacterized LOC105376541 Neighboring gene nuclear receptor interacting protein 3

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
contributes_to DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear 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)

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_020646.2NP_065697.1  achaete-scute homolog 3

    See identical proteins and their annotated locations for NP_065697.1

    Status: VALIDATED

    Source sequence(s)
    AC026894, BG199363
    Consensus CDS
    CCDS7795.1
    UniProtKB/Swiss-Prot
    Q9NQ33
    Related
    ENSP00000435770.1, ENST00000531618.1
    Conserved Domains (1) summary
    smart00353
    Location:99149
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    8937572..8943033 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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