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ASCL4 achaete-scute family bHLH transcription factor 4 [ Homo sapiens (human) ]

Gene ID: 121549, updated on 26-Oct-2022

Summary

Official Symbol
ASCL4provided by HGNC
Official Full Name
achaete-scute family bHLH transcription factor 4provided by HGNC
Primary source
HGNC:HGNC:24311
See related
Ensembl:ENSG00000187855 MIM:609155; AllianceGenome:HGNC:24311
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
ASH-4; HASH4; bHLHa44
Summary
Basic helix-loop-helix transcription factors, such as ASCL4, 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
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Genomic context

See ASCL4 in Genome Data Viewer
Location:
12q23.3
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (107774704..107776644)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (107738195..107740135)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (108168481..108170421)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L17 pseudogene 38 Neighboring gene PRDM4 antisense RNA 1 Neighboring gene PR/SET domain 4 Neighboring gene uncharacterized LOC105369963 Neighboring gene ret finger protein like 2 pseudogene

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
PubMed 
involved_in skin development NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cellular_component ND
No biological Data available
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

Preferred Names
achaete-scute homolog 4
Names
achaete-scute complex homolog 4
achaete-scute complex-like 4
achaete-scute-like protein 4
class A basic helix-loop-helix protein 44
class II bHLH protein ASCL4

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_203436.3NP_982260.3  achaete-scute homolog 4

    Status: VALIDATED

    Source sequence(s)
    AC007622
    Consensus CDS
    CCDS31894.3
    UniProtKB/Swiss-Prot
    Q7RTS2
    Related
    ENSP00000345420.5, ENST00000342331.5
    Conserved Domains (1) summary
    cl00081
    Location:66129
    bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    107774704..107776644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    107738195..107740135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)