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

Gene ID: 56676, updated on 26-May-2016
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 HPRD:18523; 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]
Orthologs
Location:
11p15.3
Exon count:
2
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 A-kinase interacting protein 1 Neighboring gene chromosome 11 open reading frame 16 Neighboring gene uncharacterized LOC105376540 Neighboring gene TMEM9 domain family member B Neighboring gene TMEM9B antisense RNA 1 Neighboring gene nuclear receptor interacting protein 3

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
contributes_to transcription factor activity, sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription, DNA-templated 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
 
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

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, OTTHUMP00000230731, ENST00000531618, OTTHUMT00000385773
    Conserved Domains (1) summary
    cd00083
    Location:96149
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    8958058..8963517 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)