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

Gene ID: 26578, updated on 8-Dec-2018

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
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

Genomic context

See OSTF1 in Genome Data Viewer
Location:
9q21.13
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (75088480..75147198)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (77703398..77762114)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene CARNMT1 antisense RNA 1 Neighboring gene carnosine N-methyltransferase 1 Neighboring gene nicotinamide riboside kinase 1 Neighboring gene uncharacterized LOC105376090 Neighboring gene RNA, U6 small nuclear 1228, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20559

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
neutrophil degranulation TAS
Traceable Author Statement
more info
 
ossification TAS
Traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular region HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
osteoclast-stimulating factor 1

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)

  1. NM_012383.4NP_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
    Q92882
    Related
    ENSP00000340836.6, ENST00000346234.6
    Conserved Domains (3) summary
    cd11772
    Location:1668
    SH3_OSTF1; Src Homology 3 domain of metazoan osteoclast stimulating factor 1
    cd00204
    Location:75189
    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:76103
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    75088480..75147198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518525.3XP_011516827.1  osteoclast-stimulating factor 1 isoform X3

    See identical proteins and their annotated locations for XP_011516827.1

    Conserved Domains (4) summary
    cd11772
    Location:1971
    SH3_OSTF1; Src Homology 3 domain of metazoan osteoclast stimulating factor 1
    cd00204
    Location:78177
    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:80167
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:79106
    ANK; ANK repeat [structural motif]
  2. XM_006717053.3XP_006717116.1  osteoclast-stimulating factor 1 isoform X1

    See identical proteins and their annotated locations for XP_006717116.1

    Conserved Domains (3) summary
    cd11772
    Location:1971
    SH3_OSTF1; Src Homology 3 domain of metazoan osteoclast stimulating factor 1
    cd00204
    Location:78192
    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:79106
    ANK; ANK repeat [structural motif]
  3. XM_017014622.2XP_016870111.1  osteoclast-stimulating factor 1 isoform X4

  4. XM_006717055.3XP_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:32146
    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:34127
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:3360
    ANK; ANK repeat [structural motif]
    cl17036
    Location:125
    SH3; Src Homology 3 domain superfamily
  5. XM_011518524.2XP_011516826.1  osteoclast-stimulating factor 1 isoform X2

    Conserved Domains (4) summary
    cd00204
    Location:49163
    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:51144
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:5077
    ANK; ANK repeat [structural motif]
    cl17036
    Location:242
    SH3; Src Homology 3 domain superfamily
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