OSR1 odd-skipped related 1 (Drosophila) [Homo sapiens] - Gene

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Summary

Official Symbol: OSR1provided by HGNC
Official Full Name: odd-skipped related 1 (Drosophila)provided by HGNC
Primary source: HGNC:8111
See related: Ensembl:ENSG00000143867; HPRD:16401; MIM:608891; Vega:OTTHUMG00000088793
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

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Genomic context

Location :: 2p24.1

Sequence :: Chromosome: 2; NC_000002.11 (19551246..19558372, complement)

See OSR1 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

OSR1 is expressed in human mesenchymal stem cells, the blastemal component of Wilms tumors and CD24+/CD133+ progenitor cells isolated from the mature kidney.
Title: A variant OSR1 allele which disturbs OSR1 mRNA expression in renal progenitor cells is associated with reduction of newborn kidney size and function.
Data demonstrate that hypotonic low-chloride conditions that activate the WNK1-SPAK and OSR1 pathway promote phosphorylation of NKCC2 isoforms.
Title: Regulation of the NKCC2 ion cotransporter by SPAK-OSR1-dependent and -independent pathways.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
first report on molecular cloning and characterization of human OSR1
Title: Molecular cloning and characterization of OSR1 on human chromosome 2p24.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_660303.1	NP_004603.1	TGFBR1	BIND	PubMed	T-beta-RI interacts with OSR1. This interaction was modeled on a demonstrated interaction between human T-beta-RI and mouse OSR1.
NP_660303.1	NP_003233.3	TGFBR2	BIND	PubMed	T-beta-RII interacts with OSR1. This interaction was modeled on a demonstrated interaction between human T-beta-RII and mouse OSR1.
Q8TAX0	P36897	TGFBR1	HPRD	PubMed
Q8TAX0	P37173	TGFBR2	HPRD	PubMed
BioGRID:126234	BioGRID:120060	EGLN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:126234	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:126234	BioGRID:113269	VHL	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleic acid binding	IEA Inferred from Electronic Annotation more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
cell proliferation involved in kidney development	ISS Inferred from Sequence or Structural Similarity more info
cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
embryonic digit morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
embryonic forelimb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
embryonic hindlimb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
embryonic skeletal joint development	ISS Inferred from Sequence or Structural Similarity more info
embryonic skeletal joint morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
embryonic skeletal limb joint morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
gonad development	IEA Inferred from Electronic Annotation more info
heart development	ISS Inferred from Sequence or Structural Similarity more info
intermediate mesoderm development	IEA Inferred from Electronic Annotation more info
mesangial cell development	ISS Inferred from Sequence or Structural Similarity more info
mesonephric duct morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
mesonephros development	ISS Inferred from Sequence or Structural Similarity more info
metanephric cap mesenchymal cell proliferation involved in metanephros development	ISS Inferred from Sequence or Structural Similarity more info
metanephric epithelium development	ISS Inferred from Sequence or Structural Similarity more info
metanephric glomerulus vasculature development	ISS Inferred from Sequence or Structural Similarity more info
metanephric interstitial cell development	ISS Inferred from Sequence or Structural Similarity more info
metanephric mesenchymal cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
metanephric mesenchyme development	ISS Inferred from Sequence or Structural Similarity more info
metanephric mesenchyme morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
metanephric nephron tubule development	ISS Inferred from Sequence or Structural Similarity more info
metanephric smooth muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
middle ear morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of nephron tubule epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of transcription from RNA polymerase II promoter	ISS Inferred from Sequence or Structural Similarity more info
odontogenesis	ISS Inferred from Sequence or Structural Similarity more info
palate development	ISS Inferred from Sequence or Structural Similarity more info
pattern specification involved in metanephros development	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of bone mineralization	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of epithelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of gastrulation	IMP Inferred from Mutant Phenotype more info
positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription from RNA polymerase II promoter	ISS Inferred from Sequence or Structural Similarity more info
posterior mesonephric tubule development	ISS Inferred from Sequence or Structural Similarity more info
pronephros development	IMP Inferred from Mutant Phenotype more info
regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
renal vesicle progenitor cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
specification of anterior mesonephric tubule identity	ISS Inferred from Sequence or Structural Similarity more info
specification of posterior mesonephric tubule identity	ISS Inferred from Sequence or Structural Similarity more info
stem cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
ureter urothelium development	ISS Inferred from Sequence or Structural Similarity more info
ureteric bud development	ISS Inferred from Sequence or Structural Similarity more info
urogenital system development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
intracellular	IEA Inferred from Electronic Annotation more info
nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: protein odd-skipped-related 1

Names: protein odd-skipped-related 1; odd-skipped homolog

NP_660303.1

EC 2.7.11.1

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NCBI Reference Sequences (RefSeq)

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_145260.2 → NP_660303.1 protein odd-skipped-related 1

Status: VALIDATED

Source sequence(s)

AC018741, AI391506, AK074591

Consensus CDS

CCDS1694.1

UniProtKB/Swiss-Prot

Q8TAX0

Related

ENSP00000272223, OTTHUMP00000112434, ENST00000272223, OTTHUMT00000201432

Conserved Domains (2) summary

pfam13465
Location:189 – 214
Blast Score: 90

zf-H2C2_2; Zinc-finger double domain

cl15478
Location:176 – 197
Blast Score: 72

zf-C2H2; Zinc finger, C2H2 type

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

19551246..19558372, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

19308802..19315925, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC018741.5	AAY14760.1
genomic	CH471053.2	EAX00846.1
		EAX00847.1
		EAX00848.1
genomic	CQ782558.1	CAF85834.1
genomic	DQ021502.1	AAY26397.1
mRNA	AB082568.1	BAB92079.1
mRNA	AI391506.1	None
mRNA	AK074591.1	BAC11079.1
mRNA	AK122756.1	BAG53709.1
mRNA	BC025712.1	AAH25712.1
other-genetic	AM393368.1	CAL38246.1