OSTF1 osteoclast stimulating factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OSTF1provided by HGNC
Official Full Name: osteoclast stimulating factor 1provided by HGNC
Primary source: HGNC:HGNC:8510
See related: Ensembl:ENSG00000134996 MIM:610180; AllianceGenome:HGNC:8510
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: OSF; SH3P2; bA235O14.1
Summary: Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast formation and bone resorption (Reddy et al., 1998 [PubMed 10092216]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in spleen (RPKM 44.5), esophagus (RPKM 43.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q21.13

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (75088514..75147265)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (87244992..87303677)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (77703430..77762181)

Chromosome 9 - NC_000009.12 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

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We utilized a structure-based approach to pinpoint the binding interface to a strictly conserved cluster of residues on the surface of RP2 that spans both the C- and N-terminal domains of the protein, and which is structurally distinct from the ARL3-binding site.RP2 is a positive regulator of cell motility in vitro, recruiting OSTF1 to the cell membrane and preventing its interaction with the migration regulator Myo1E.
Title: Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling.
Data show that SH3P2 was phosphorylated on Ser(202) by ribosomal S6 kinase (RSK) in an ERK pathway-dependent manner, and such phosphorylation inhibited the ability of SH3P2 to suppress cell motility.
Title: SH3P2 is a negative regulator of cell motility whose function is inhibited by ribosomal S6 kinase-mediated phosphorylation.
Observational study of gene-disease association. (HuGE Navigator)
Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
The peptide-binding groove of OSTF-SH3 domain adopts a conformation different from other SH3 domains and probably needs a conformational switch for binding to its proline-rich ligand; this status is possibly regulated by the C-terminal ankyrin repeats.
Title: Crystal structure of human osteoclast stimulating factor.
Crystals of human osteoclast-stimulating factor were obtained by the hanging-drop vapour-diffusion method using X ray crystallography.
Title: Crystallization and preliminary X-ray crystallographic analysis of osteoclast-stimulating factor.
SH3P2, a novel component of adhesion sites, is involved in Cbl and Src-mediated pathways
Title: SH3P2 in complex with Cbl and Src.
The SH3 domain structure of osteoclast stimulating factor at atomic resolution provides an accurate framework for structure-based design of its inhibitors.
Title: Structure of the SH3 domain of human osteoclast-stimulating factor at atomic resolution.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH16319 (e-PCR)
- UniSTS:34332

SGC35040 (e-PCR)
- UniSTS:1645

RH93283 (e-PCR)
- UniSTS:91118

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ossification	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: osteoclast-stimulating factor 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_012383.5 → NP_036515.4 osteoclast-stimulating factor 1

See identical proteins and their annotated locations for NP_036515.4

Status: VALIDATED

Source sequence(s)

AK222596, AL133548, BP312980

Consensus CDS

CCDS6651.1

UniProtKB/Swiss-Prot

Q5W126, Q92882, Q96IJ4

UniProtKB/TrEMBL

A8K646

Related

ENSP00000340836.6, ENST00000346234.7

Conserved Domains (4) summary

cd11772
Location:16 → 68

SH3_OSTF1; Src Homology 3 domain of metazoan osteoclast stimulating factor 1

sd00045
Location:76 → 103

ANK; ANK repeat [structural motif]

pfam12796
Location:77 → 170

Ank_2; Ankyrin repeats (3 copies)

cl39094
Location:144 → 198

Ank_2; Ankyrin repeats (3 copies)

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_000009.12 Reference GRCh38.p14 Primary Assembly

Range

75088514..75147265

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006717053.4 → XP_006717116.1 osteoclast-stimulating factor 1 isoform X1

See identical proteins and their annotated locations for XP_006717116.1

UniProtKB/TrEMBL

A8K646

Conserved Domains (3) summary

cd11772
Location:19 → 71

SH3_OSTF1; Src Homology 3 domain of metazoan osteoclast stimulating factor 1

cd00204
Location:78 → 192

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:79 → 106

ANK; ANK repeat [structural motif]
XM_011518525.4 → XP_011516827.1 osteoclast-stimulating factor 1 isoform X3

See identical proteins and their annotated locations for XP_011516827.1

UniProtKB/TrEMBL

A8K646

Conserved Domains (4) summary

cd11772
Location:19 → 71

SH3_OSTF1; Src Homology 3 domain of metazoan osteoclast stimulating factor 1

cd00204
Location:78 → 177

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:80 → 167

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:79 → 106

ANK; ANK repeat [structural motif]
XM_011518524.3 → XP_011516826.1 osteoclast-stimulating factor 1 isoform X2

UniProtKB/TrEMBL

A8K646

Conserved Domains (3) summary

COG0666
Location:43 → 164

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

sd00045
Location:50 → 77

ANK; ANK repeat [structural motif]

cl17036
Location:2 → 42

SH3; Src Homology 3 domain superfamily
XM_017014622.3 → XP_016870111.1 osteoclast-stimulating factor 1 isoform X4

UniProtKB/TrEMBL

A8K646
XM_006717055.4 → XP_006717118.1 osteoclast-stimulating factor 1 isoform X5

See identical proteins and their annotated locations for XP_006717118.1

Conserved Domains (4) summary

cd00204
Location:32 → 146

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:34 → 127

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:33 → 60

ANK; ANK repeat [structural motif]

cl17036
Location:1 → 25

SH3; Src Homology 3 domain superfamily