Ascl5 achaete-scute family bHLH transcription factor 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ascl5provided by MGI
Official Full Name: achaete-scute family bHLH transcription factor 5provided by MGI
Primary source: MGI:MGI:2685043
See related: Ensembl:ENSMUSG00000097918 AllianceGenome:MGI:2685043
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm197; AmeloD; bHLHa47; Ascl5-ps
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription factor binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in ameloblast differentiation; amelogenesis; and regulation of transcription by RNA polymerase II. Located in chromatin. Part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including central nervous system; genitourinary system; oral region epithelium; and tooth. Orthologous to human ASCL5 (achaete-scute family bHLH transcription factor 5). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human all
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Genomic context

Location:: 1 E4; 1 59.54 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (135978321..135979810)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (136050804..136051370)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The tooth-specific basic helix-loop-helix factor AmeloD promotes differentiation of ameloblasts.
Title: The tooth-specific basic helix-loop-helix factor AmeloD promotes differentiation of ameloblasts.
Transcriptional regulation of the basic helix-loop-helix factor AmeloD during tooth development.
Title: Transcriptional regulation of the basic helix-loop-helix factor AmeloD during tooth development.
AmeloD stimulates epithelial cell motility essential for tooth morphology
Title: The transcription factor AmeloD stimulates epithelial cell motility essential for tooth morphology.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ameloblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amelogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor 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 RNA polymerase II transcription regulator complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: achaete-scute homolog 5

Names: achaete-scute complex homolog 5, pseudogene

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)

NM_001270609.2 → NP_001257538.1 achaete-scute homolog 5

Status: VALIDATED

Source sequence(s)

AC124375

Consensus CDS

CCDS59541.1

UniProtKB/Swiss-Prot

M0QWB7

Related

ENSMUSP00000137746.2, ENSMUST00000180436.2

Conserved Domains (1) summary

smart00353
Location:86 → 136

HLH; helix loop helix domain