OSR1 odd-skipped related transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OSR1provided by HGNC
Official Full Name: odd-skipped related transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:8111
See related: Ensembl:ENSG00000143867 MIM:608891; AllianceGenome:HGNC:8111
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: ODD
Summary: Enables sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transporter activity; positive regulation of gastrulation; and pronephros development. Located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Annotation information: Note: OSR1 (Gene ID: 130497) and OXSR1 (Gene ID: 9943) share the OSR1 symbol/alias in common. OSR1 is a widely used alternative name for oxidative stress responsive 1 (OXSR1). [29 Jun 2018]
Expression: Broad expression in salivary gland (RPKM 5.4), endometrium (RPKM 5.3) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p24.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (19344874..19358623, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (19384294..19391428, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (19551246..19558384, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

OSR1 disruption contributes to uterine factor infertility via impaired Mullerian duct development and endometrial receptivity.
Title: OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity.
Odd-skipped related 1 plays a tumor suppressor role in ovarian cancer via promoting follistatin-like protein 1 transcription.
Title: Odd-skipped related 1 plays a tumor suppressor role in ovarian cancer via promoting follistatin-like protein 1 transcription.
OSR1 inhibited TSCC cell migration and invasion through inhibiting NF-kappaB pathway
Title: Odd-skipped related transcription factor 1 (OSR1) suppresses tongue squamous cell carcinoma migration and invasion through inhibiting NF-κB pathway.
Kir2.1 and Kir2.3, are activated by OSR1 through a motif variant, R-x-F-x-V/I.
Title: OSR1 regulates a subset of inward rectifier potassium channels via a binding motif variant.
Odd-skipped related 1 (OSR1) downregulated the activity of the Wnt signaling pathway by suppressing the expression of sex-determining region Y-box 9 (SOX9) and beta-catenin.
Title: Odd-skipped related 1 inhibits lung cancer proliferation and invasion by reducing Wnt signaling through the suppression of SOX9 and β-catenin.
OSR1 was downregulated in RCC cells by promoter methylation. OSR1 can function as a tumor suppressor via inhibition of invasion and proliferation in RCC cells, possibly via upregulating tumor suppressor genes and downregulating oncogenes.
Title: OSR1 is a novel epigenetic silenced tumor suppressor regulating invasion and proliferation in renal cell carcinoma.
OSR1 was sequenced in 186 children with primary vesicoureteric reflux, and 17 have single nucleotide polymorphisms
Title: Heterozygous loss-of-function mutation in Odd-skipped related 1 (Osr1) is associated with vesicoureteric reflux, duplex systems, and hydronephrosis.
In summary, our study implicated a gene network involving Tbx5, Osr1 and Pcsk6 interaction in second heart field for atrial septation, providing a molecular framework for understanding the role of Tbx5 in congenital heart disease ontogeny.
Title: Gene network and familial analyses uncover a gene network involving Tbx5/Osr1/Pcsk6 interaction in the second heart field for atrial septation.
The findings of the present study showed, for the first time, the role of the OSR1 rs12329305 polymorphism in the development of congenital malformations in cases of stillborn/neonatal death.
Title: The OSR1 rs12329305 polymorphism contributes to the development of congenital malformations in cases of stillborn/neonatal death.
OSR1 acts as a functional tumour suppressor in gastric cancer
Title: Odd-skipped related 1 is a novel tumour suppressor gene and a potential prognostic biomarker in gastric cancer.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80491 (e-PCR)
- UniSTS:88637

D2S310 (e-PCR)
- UniSTS:70494

D2S310 (e-PCR)
- UniSTS:87919

RH102631 (e-PCR)
- UniSTS:96965

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

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

Component	Evidence Code	Pubs
located_in cell cortex	ISS Inferred from Sequence or Structural Similarity more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity 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

General protein information

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Preferred Names: protein odd-skipped-related 1

Names: odd-skipped homolog; odd-skipped related 1; odd-skipped related transciption factor 1

NP_660303.1

EC 2.7.11.1

XP_006712005.1

EC 2.7.11.1

XP_054196508.1

EC 2.7.11.1

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_145260.3 → NP_660303.1 protein odd-skipped-related 1

See identical proteins and their annotated locations for NP_660303.1

Status: VALIDATED

Source sequence(s)

AC018741, AI391506, AK074591

Consensus CDS

CCDS1694.1

UniProtKB/Swiss-Prot

B3KV97, D6W521, Q8TAX0

Related

ENSP00000272223.2, ENST00000272223.3

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:217 → 240

zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

19344874..19358623 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006711942.5 → XP_006712005.1 protein odd-skipped-related 1 isoform X1

See identical proteins and their annotated locations for XP_006712005.1

UniProtKB/Swiss-Prot

B3KV97, D6W521, Q8TAX0

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:217 → 240

zf-H2C2_2; Zinc-finger double domain