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

    Gene ID: 26578, updated on 3-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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 Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    General protein information

    Preferred Names
    osteoclast-stimulating factor 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012383.5NP_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:1668
      SH3_OSTF1; Src Homology 3 domain of metazoan osteoclast stimulating factor 1
      sd00045
      Location:76103
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:77170
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:144198
      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_006717053.4XP_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: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]
    2. XM_011518525.4XP_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: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]
    3. XM_011518524.3XP_011516826.1  osteoclast-stimulating factor 1 isoform X2

      UniProtKB/TrEMBL
      A8K646
      Conserved Domains (3) summary
      COG0666
      Location:43164
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:5077
      ANK; ANK repeat [structural motif]
      cl17036
      Location:242
      SH3; Src Homology 3 domain superfamily
    4. XM_017014622.3XP_016870111.1  osteoclast-stimulating factor 1 isoform X4

      UniProtKB/TrEMBL
      A8K646
    5. XM_006717055.4XP_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

    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_054362735.1XP_054218710.1  osteoclast-stimulating factor 1 isoform X1

      UniProtKB/TrEMBL
      A8K646
    2. XM_054362737.1XP_054218712.1  osteoclast-stimulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A8K646
    3. XM_054362736.1XP_054218711.1  osteoclast-stimulating factor 1 isoform X2

      UniProtKB/TrEMBL
      A8K646
    4. XM_054362738.1XP_054218713.1  osteoclast-stimulating factor 1 isoform X4

      UniProtKB/TrEMBL
      A8K646
    5. XM_054362739.1XP_054218714.1  osteoclast-stimulating factor 1 isoform X5