Scx scleraxis scleraxis bHLH transcription factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Scxprovided by MGI
Official Full Name: scleraxis scleraxis bHLH transcription factorprovided by MGI
Primary source: MGI:MGI:102934
See related: Ensembl:ENSMUSG00000034161 AllianceGenome:MGI:102934
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Scl; Bhlha41
Summary: This gene encodes a basic helix-loop-helix type transcription factor involved in mesoderm and heart valve formation. The encoded protein is expressed during embryonic development of tendons and ligaments. The gene product regulates collagen type I gene expression in cardiac fibroblasts and myofibroblasts, and it may play a role in myocardial remodeling. The protein is expressed in the scar area of the adult heart following myocardial infarction. [provided by RefSeq, Feb 2010]
Expression: Biased expression in adrenal adult (RPKM 33.4), limb E14.5 (RPKM 25.3) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 D3; 15 35.92 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (76341594..76343668)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (76457411..76459468)

Chromosome 15 - NC_000081.7 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?

Scleraxis-lineage cell depletion improves tendon healing and disrupts adult tendon homeostasis.
Title: Scleraxis-lineage cell depletion improves tendon healing and disrupts adult tendon homeostasis.
Scleraxis expressing scleral cells respond to inflammatory stimulation.
Title: Scleraxis expressing scleral cells respond to inflammatory stimulation.
Role of Scx+/Sox9+ cells as potential progenitor cells for postnatal supraspinatus enthesis formation and healing after injury in mice.
Title: Role of Scx+/Sox9+ cells as potential progenitor cells for postnatal supraspinatus enthesis formation and healing after injury in mice.
Scleraxis is a transcriptional activator that regulates the expression of Tenomodulin, a marker of mature tenocytes and ligamentocytes
Title: Scleraxis is a transcriptional activator that regulates the expression of Tenomodulin, a marker of mature tenocytes and ligamentocytes.
The absence of Scx results in a defect in progenitor differentiation into Scx-expressing tenocytes and tendon repair.
Title: Transcription factor scleraxis vitally contributes to progenitor lineage direction in wound healing of adult tendon in mice.
These results highlighted the functional importance of both transient and persistent expression domains of Scx for proper integration of the musculoskeletal components.
Title: Scleraxis is required for maturation of tissue domains for proper integration of the musculoskeletal system.
Deletion of Scx led to altered long bone properties and callus healing.
Title: Loss of scleraxis in mice leads to geometric and structural changes in cortical bone, as well as asymmetry in fracture healing.
scleraxis was required for TGFbeta-induced fibronectin expression: TGFbeta lost its ability to induce fibronectin expression following scleraxis knockdown.
Title: Regulation of fibronectin gene expression in cardiac fibroblasts by scleraxis.
The phosphorylation sequence matched that targeted by Casein Kinase 2, and inhibition of this kinase activity disrupted the ability of scleraxis to modulate the expression of its target genes while also attenuating TGFbeta-induced expression of type I collagen and myofibroblast phenotype conversion marker genes
Title: Regulation of scleraxis transcriptional activity by serine phosphorylation.
Cardiac fibroblast phenotype regulation by scleraxis.
Title: The transcription factor scleraxis is a critical regulator of cardiac fibroblast phenotype.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Variation

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Alleles

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

Targeted (10) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Scx (e-PCR), detects polymorphism
- UniSTS:531313

Scx (e-PCR), detects polymorphism
- UniSTS:233954

Scx (e-PCR), detects polymorphism
- UniSTS:547305

Scx (e-PCR), detects polymorphism
- UniSTS:144376

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
contributes_to E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to E-box binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables bHLH transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables bHLH transcription factor binding	ISO Inferred from Sequence Orthology more info
enables cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in cartilage development	NAS Non-traceable Author Statement more info	PubMed
involved_in cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to BMP stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to transforming growth factor beta stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in deltoid tuberosity development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic skeletal system development	IEP Inferred from Expression Pattern more info	PubMed
involved_in endochondral ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in face morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in heart valve formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesoderm formation	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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of collagen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of collagen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	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
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of cartilage development	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
involved_in sclerotome development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within skeletal muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tendon cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tendon development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tendon formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tissue homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: basic helix-loop-helix transcription factor scleraxis

Names: scleraxis

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_198885.3 → NP_942588.1 basic helix-loop-helix transcription factor scleraxis

See identical proteins and their annotated locations for NP_942588.1

Status: REVIEWED

Source sequence(s)

AC157566, AV162294

Consensus CDS

CCDS27571.1

UniProtKB/Swiss-Prot

Q64124

UniProtKB/TrEMBL

Q53ZC3, Q6P6L3

Related

ENSMUSP00000043668.8, ENSMUST00000043089.9

Conserved Domains (1) summary

cd18951
Location:76 → 143

bHLH_TS_scleraxis; basic helix-loop-helix (bHLH) domain found in scleraxis and similar proteins

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_000081.7 Reference GRCm39 C57BL/6J

Range

76341594..76343668

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006520660.5 → XP_006520723.1 basic helix-loop-helix transcription factor scleraxis isoform X1

UniProtKB/TrEMBL

Q6P6L3

Conserved Domains (1) summary

cd18951
Location:76 → 143

bHLH_TS_scleraxis; basic helix-loop-helix (bHLH) domain found in scleraxis and similar proteins