Osr1 odd-skipped related transcription factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Osr1provided by MGI
Official Full Name: odd-skipped related transcription factor 1provided by MGI
Primary source: MGI:MGI:1344424
See related: Ensembl:ENSMUSG00000048387 AllianceGenome:MGI:1344424
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: Osr; Odd1
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including animal organ development; embryonic limb morphogenesis; and regulation of transcription by RNA polymerase II. Acts upstream of or within animal organ development; cellular response to retinoic acid; and intermediate mesoderm development. Predicted to be located in cytosol. Predicted to be extrinsic component of membrane. Predicted to be active in nucleus. Is expressed in several structures, including branchial arch; central nervous system; embryo mesenchyme; genitourinary system; and limb. Orthologous to human OSR1 (odd-skipped related transcription factor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in limb E14.5 (RPKM 25.5), bladder adult (RPKM 22.7) and 14 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 12 A1.1; 12 4.05 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (9624442..9631500)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (9574442..9581500)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Osr1 Is Required for Mesenchymal Derivatives That Produce Collagen in the Bladder.
Title: Osr1 Is Required for Mesenchymal Derivatives That Produce Collagen in the Bladder.
The nephric mesenchyme lineage of intermediate mesoderm is derived from Tbx6-expressing derivatives of neuro-mesodermal progenitors via BMP-dependent Osr1 function.
Title: The nephric mesenchyme lineage of intermediate mesoderm is derived from Tbx6-expressing derivatives of neuro-mesodermal progenitors via BMP-dependent Osr1 function.
Osr1 regulates hepatic inflammation and cell survival in the progression of non-alcoholic fatty liver disease.
Title: Osr1 regulates hepatic inflammation and cell survival in the progression of non-alcoholic fatty liver disease.
Osr1 plays a coordinating role in appropriate skull closure and cranial bone formation by negative regulation.
Title: Zinc-finger transcription factor Odd-skipped related 1 regulates cranial bone formation.
Transcriptome and functional analyses reveal that Osr1(+) cells provide a critical pro-myogenic niche via the production of muscle connective tissue specific extracellular matrix components and secreted signaling factors.
Title: Odd skipped-related 1 identifies a population of embryonic fibro-adipogenic progenitors regulating myogenesis during limb development.
Hypothalamic OSR1 expression is suppressed by enhanced postnatal (maternal) care, but elevated by inflammatory microglia.
Title: IRF2BP2-deficient microglia block the anxiolytic effect of enhanced postnatal care.
In contrast to H2A-interacting proteins, the H2A.Z-interacting proteins are involved in transcriptional regulation. We found that the transcription factor Osr1 interacts with H2A.Z both in vitro and in vivo. It also mediates H2A.Z incorporation to a large number of target sites and regulates gene expression
Title: Genome-wide identification of histone H2A and histone variant H2A.Z-interacting proteins by bPPI-seq.
These results indicate that OSR1 and SPAK cooperatively regulate NKCC1-dependent spermatogenesis in a SC-restricted manner.
Title: OSR1 and SPAK cooperatively modulate Sertoli cell support of mouse spermatogenesis.
Osr1 is a candidate gene implicated in the pathogenesis of vesicoureteric reflux and congenital abnormalities of the kidney and urinary tract in mice
Title: Heterozygous loss-of-function mutation in Odd-skipped related 1 (Osr1) is associated with vesicoureteric reflux, duplex systems, and hydronephrosis.
Our data reveal that together SPAK and OSR1 play essential roles in the pathway along the distal convoluted tubules that responds to fluctuations in plasma potassium
Title: SPAK and OSR1 play essential roles in potassium homeostasis through actions on the distal convoluted tubule.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

Go to the top of the page Help

Alleles

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

Targeted (7) 1 citation
Endonuclease-mediated (3) 1 citation

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

Osr1 (e-PCR), detects polymorphism
- UniSTS:144080

Osr1 (e-PCR), detects polymorphism
- UniSTS:547552

Osr1 (e-PCR), detects polymorphism
- UniSTS:547582

Homology

Homologs of the Osr1 gene: The Osr1 gene is conserved in human, chimpanzee, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 486 organisms have orthologs with human gene Osr1
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell proliferation involved in kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to retinoic acid	IEP Inferred from Expression Pattern more info	PubMed
involved_in chondrocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in embryo development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in embryonic digit morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in embryonic forelimb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in embryonic hindlimb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in embryonic skeletal joint development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in embryonic skeletal joint morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in embryonic skeletal limb joint morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intermediate mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesangial cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesonephric duct morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesonephros development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephric cap mesenchymal cell proliferation involved in metanephros development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephric epithelium development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephric glomerulus vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephric interstitial fibroblast development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephric mesenchymal cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephric mesenchyme development	IDA Inferred from Direct Assay more info	PubMed
involved_in metanephric mesenchyme morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephric nephron tubule development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephric smooth muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within metanephros development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in middle ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of creatine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of nephron tubule epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of sodium ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in odontogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in pattern specification involved in metanephros development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of bone mineralization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of epithelial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of gastrulation	ISO Inferred from Sequence Orthology more info
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
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in posterior mesonephric tubule development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pronephros development	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in renal vesicle progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in roof of mouth development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in sodium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in specification of anterior mesonephric tubule identity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in specification of posterior mesonephric tubule identity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in stem cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in ureter urothelium development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ureteric bud development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in urogenital system development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in urogenital system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in extrinsic component of membrane	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: protein odd-skipped-related 1

Names: odd-skipped related 1

NP_035989.1

EC 2.7.11.1

XP_036013300.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_011859.3 → NP_035989.1 protein odd-skipped-related 1

See identical proteins and their annotated locations for NP_035989.1

Status: VALIDATED

Source sequence(s)

AF117814, AK004397, BQ832175, BU756490

Consensus CDS

CCDS25809.1

UniProtKB/Swiss-Prot

Q9WVG7

UniProtKB/TrEMBL

A0A6P5QUH0

Related

ENSMUSP00000055486.8, ENSMUST00000057021.9

Conserved Domains (3) summary

sd00017
Location:177 → 197

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:175 → 197

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:189 → 214

zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

9624442..9631500

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157407.1 → XP_036013300.1 protein odd-skipped-related 1 isoform X1

UniProtKB/Swiss-Prot

Q9WVG7

UniProtKB/TrEMBL

A0A6P5QUH0

Conserved Domains (3) summary

sd00017
Location:177 → 197

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:175 → 197

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:189 → 214

zf-H2C2_2; Zinc-finger double domain