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

    Gene ID: 26578, updated on 2-Nov-2024

    Summary

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    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

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    See OSTF1 in Genome Data Viewer
    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_000009.12Genomic Context describing neighboring genes Neighboring gene CARNMT1 antisense RNA 1 Neighboring gene carnosine N-methyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19953 Neighboring gene nicotinamide riboside kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19954 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19955 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:77751669-77752168 Neighboring gene uncharacterized LOC105376090 Neighboring gene RNA, U6 small nuclear 1228, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Isolation and characterization of a cDNA clone encoding a novel peptide (OSF) that enhances osteoclast formation and bone resorption. Reddy S, et al. J Cell Physiol, 1998 Dec. PMID 10092216
    2. Assignment of OSTF1 to human chromosome bands 12q24.1-->q24.2 by in situ hybridization. Schaub R, et al. Cytogenet Cell Genet, 2000. PMID 10773673
    3. Crystal structure of human osteoclast stimulating factor. Tong S, et al. Proteins, 2009 Apr. PMID 19137598
    4. Structure of the SH3 domain of human osteoclast-stimulating factor at atomic resolution. Chen L, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2006 Sep 1. PMID 16946461, Free PMC Article
    5. Crystallization and preliminary X-ray crystallographic analysis of osteoclast-stimulating factor. Li M, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2005 Jan 1. PMID 16508112, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. SH3P2, a novel component of adhesion sites, is involved in Cbl and Src-mediated pathways
      Title: SH3P2 in complex with Cbl and Src.
    7. 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20559

    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 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)

    1. 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

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      75088514..75147265
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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]

    2. 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]

    3. 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

    4. XM_017014622.3 → XP_016870111.1  osteoclast-stimulating factor 1 isoform X4

      UniProtKB/TrEMBL
      A8K646

    5. 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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      87244992..87303677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362735.1 → XP_054218710.1  osteoclast-stimulating factor 1 isoform X1

    2. XM_054362737.1 → XP_054218712.1  osteoclast-stimulating factor 1 isoform X3

    3. XM_054362736.1 → XP_054218711.1  osteoclast-stimulating factor 1 isoform X2

    4. XM_054362738.1 → XP_054218713.1  osteoclast-stimulating factor 1 isoform X4

    5. XM_054362739.1 → XP_054218714.1  osteoclast-stimulating factor 1 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92882.2 GenPept UniProtKB/Swiss-Prot:Q92882

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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