Six5 sine oculis-related homeobox 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Six5provided by MGI
Official Full Name: sine oculis-related homeobox 5provided by MGI
Primary source: MGI:MGI:106220
See related: Ensembl:ENSMUSG00000040841 AllianceGenome:MGI:106220
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: Dmahp; MDMAHP; TrexBF
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of skeletal muscle satellite cell proliferation; negative regulation of transcription, DNA-templated; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within lens development in camera-type eye; negative regulation of cell population proliferation; and spermatid development. Located in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and integumental system. Human ortholog(s) of this gene implicated in branchiootorenal syndrome 2. Orthologous to human SIX5 (SIX homeobox 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in ovary adult (RPKM 40.2), limb E14.5 (RPKM 33.7) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 9.46 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (18828469..18832474)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (19094544..19098549)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Six4 and Six5 are required for growth and morphological change of the primary abdominal wall.
Title: Mice doubly deficient in Six4 and Six5 show ventral body wall defects reproducing human omphalocele.
The results indicated that low Six4 and Six5 gene dosage improved dystrophic phenotypes of Dmd(mdx) /Y mice by enhancing muscle regeneration, and suggested that SIX4 and SIX5 are potentially useful de novo targets in therapeutic applications against muscle disorders, including DMD.
Title: Low Six4 and Six5 gene dosage improves dystrophic phenotype and prolongs life span of mdx mice.
Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy
Title: Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy.
Six4 and Six5 repressed, while Six1 activated myogenin expression, suggesting that the differential regulation of myogenin expression is responsible for the differential effects of Six genes
Title: Six family genes control the proliferation and differentiation of muscle satellite cells.
Prolonged QRS duration and delayed infraHisian conduction were significant in adult Six5 heterozygous mice. Left ventricular end-diastolic dimension was enlarged in adult Six5 heterozygous mice.
Title: Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene.
demonstrated a strict requirement of Six5 for both spermatogenic cell survival and spermiogenesis
Title: Six5 is required for spermatogenic cell survival and spermiogenesis.
Muscle contractile properties, electromyographic insertional activity, and muscle histology were normal in SIX5 deficient mice.
Title: Myotonia and muscle contractile properties in mice with SIX5 deficiency.

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Variation

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Alleles

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

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D83146 (e-PCR)
- UniSTS:163409

Six5 (e-PCR), detects polymorphism
- UniSTS:265427

AW822222 (e-PCR)
- UniSTS:208087

NoName (e-PCR)
- UniSTS:224473

Six5 (e-PCR), detects polymorphism
- UniSTS:547308

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of Leydig cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of skeletal muscle satellite cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: homeobox protein SIX5

Names: DM locus-associated homeodomain protein homolog; sine oculis homeobox homolog 5; sine oculis-related homeobox 5 homolog

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_011383.1 → NP_035513.1 homeobox protein SIX5

See identical proteins and their annotated locations for NP_035513.1

Status: VALIDATED

Source sequence(s)

AC145199

Consensus CDS

CCDS20889.1

UniProtKB/Swiss-Prot

P70178

Related

ENSMUSP00000045973.6, ENSMUST00000049454.6

Conserved Domains (2) summary

cd00086
Location:199 → 250

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam16878
Location:79 → 188

SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

18828469..18832474

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006539694.5 → XP_006539757.1 homeobox protein SIX5 isoform X1

Conserved Domains (1) summary

PHA03247
Location:127 → 365

PHA03247; large tegument protein UL36; Provisional