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    OS9 OS9, endoplasmic reticulum lectin [ Homo sapiens (human) ]

    Gene ID: 10956, updated on 23-May-2018
    Official Symbol
    OS9provided by HGNC
    Official Full Name
    OS9, endoplasmic reticulum lectinprovided by HGNC
    Primary source
    HGNC:HGNC:16994
    See related
    Ensembl:ENSG00000135506 MIM:609677; Vega:OTTHUMG00000170284
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OS-9; ERLEC2
    Summary
    This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in colon (RPKM 82.8), thyroid (RPKM 81.3) and 25 other tissues See more
    Orthologs
    See OS9 in Genome Data Viewer
    Location:
    12q13.3-q14.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (57693955..57721557)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58087738..58115340)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 26 member 10 Neighboring gene beta-1,4-N-acetyl-galactosaminyltransferase 1 Neighboring gene ribosomal protein L13a pseudogene 23 Neighboring gene AGAP2 antisense RNA 1 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 Neighboring gene tetraspanin 31 Neighboring gene cyclin dependent kinase 4

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with OS9; predicted interaction to be within the endoplasmic reticulum and function as chaperone for endoplasmic reticulum-associated degradation PubMed
    env HIV-1 gp160 is identified to have a physical interaction with osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    • ABC transporter disorders, organism-specific biosystem (from REACTOME)
      ABC transporter disorders, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form a large family of transmembrane proteins that utilise the energy from the hydrolysis of ATP to facilitate the movement of a wide variety of substrates...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • Calnexin/calreticulin cycle, organism-specific biosystem (from REACTOME)
      Calnexin/calreticulin cycle, organism-specific biosystemThe unfolded protein is recognized by a chaperon protein (calnexin or calreticulin) and the folding process starts. The binding of these protein requires a mono-glucosylated glycan (Caramelo JJ and P...
    • Defective CFTR causes cystic fibrosis, organism-specific biosystem (from REACTOME)
      Defective CFTR causes cystic fibrosis, organism-specific biosystemCystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells. Chloride ions...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
      Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
    • ER Quality Control Compartment (ERQC), organism-specific biosystem (from REACTOME)
      ER Quality Control Compartment (ERQC), organism-specific biosystemProteins that are released from the CNX or CRT complex with folding defects accumulate in a compartment of the ER called ERQC (Kamhi-Nesher et al. 2001). Here, the enzymes UGGG1 or UGGG2 are able to ...
    • HRD1/SEL1 ERAD complex, organism-specific biosystem (from KEGG)
      HRD1/SEL1 ERAD complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
    • HRD1/SEL1 ERAD complex, conserved biosystem (from KEGG)
      HRD1/SEL1 ERAD complex, conserved biosystemStructural complex; Genetic information processing; Protein processing
    • Hedgehog ligand biogenesis, organism-specific biosystem (from REACTOME)
      Hedgehog ligand biogenesis, organism-specific biosystemMammalian genomes encode three Hedgehog ligands, Sonic Hedgehog (SHH), Indian Hedgehog (IHH) and Desert Hedgehog (DHH). These secreted morphogens can remain associated with lipid rafts on the surfac...
    • Hh mutants abrogate ligand secretion, organism-specific biosystem (from REACTOME)
      Hh mutants abrogate ligand secretion, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
    • Hh mutants that don't undergo autocatalytic processing are degraded by ERAD, organism-specific biosystem (from REACTOME)
      Hh mutants that don't undergo autocatalytic processing are degraded by ERAD, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
    • Hypoxic and oxygen homeostasis regulation of HIF-1-alpha, organism-specific biosystem (from Pathway Interaction Database)
      Hypoxic and oxygen homeostasis regulation of HIF-1-alpha, organism-specific biosystem
      Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • N-glycan trimming in the ER and Calnexin/Calreticulin cycle, organism-specific biosystem (from REACTOME)
      N-glycan trimming in the ER and Calnexin/Calreticulin cycle, organism-specific biosystemAfter being synthesized in the ER membrane the 14-sugars lipid-linked oligosaccharide is co-translationally transferred to an unfolded protein, as described in the previous steps. After this point th...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    protease binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    endoplasmic reticulum mannose trimming TAS
    Traceable Author Statement
    more info
     
    negative regulation of retrograde protein transport, ER to cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein retention in ER lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein targeting IEA
    Inferred from Electronic Annotation
    more info
     
    protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to endoplasmic reticulum stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    retrograde protein transport, ER to cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    ubiquitin-dependent ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ubiquitin-dependent ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with Hrd1p ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Hrd1p ubiquitin ligase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum lumen IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum quality control compartment IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein OS-9
    Names
    amplified in osteosarcoma 9
    endoplasmic reticulum lectin 2
    erlectin 2
    osteosarcoma amplified 9, endoplasmic reticulum associated protein
    osteosarcoma amplified 9, endoplasmic reticulum lectin

    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.

    Genomic

    1. NG_029228.1 RefSeqGene

      Range
      5001..32603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017956.2NP_001017956.1  protein OS-9 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001017956.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (2, also referred to as OS-9-2) is shorter than isoform 1.
      Source sequence(s)
      AU132426, BC000532, CN335053
      Consensus CDS
      CCDS31844.1
      UniProtKB/Swiss-Prot
      Q13438
      Related
      ENSP00000450010.1, OTTHUMP00000243422, ENST00000552285.5, OTTHUMT00000408342
      Conserved Domains (2) summary
      pfam07915
      Location:110181
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:175236
      PRKCSH; Glucosidase II beta subunit-like protein
    2. NM_001017957.2NP_001017957.1  protein OS-9 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in one exon and lacks another in-frame exon, compared to variant 1. The encoded isoform (3, also referred to as OS-9-3) is shorter than isoform 1.
      Source sequence(s)
      AU132426, BC000532, CN335053
      Consensus CDS
      CCDS31846.1
      UniProtKB/Swiss-Prot
      Q13438
      Related
      ENSP00000373794.5, OTTHUMP00000243435, ENST00000389142.9, OTTHUMT00000408357
      Conserved Domains (2) summary
      pfam07915
      Location:110181
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:175236
      PRKCSH; Glucosidase II beta subunit-like protein
    3. NM_001017958.2NP_001017958.1  protein OS-9 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001017958.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region compared to variant 1, resulting in a shorter isoform (4) compared to isoform 1.
      Source sequence(s)
      AU132426, BC000532, BC023513, CN335053, U41635
      Consensus CDS
      CCDS31845.1
      UniProtKB/Swiss-Prot
      Q13438
      Related
      ENSP00000373798.6, OTTHUMP00000243429, ENST00000389146.10, OTTHUMT00000408350
      Conserved Domains (2) summary
      pfam07915
      Location:110181
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:175236
      PRKCSH; Glucosidase II beta subunit-like protein
    4. NM_001261420.1NP_001248349.1  protein OS-9 isoform 5 precursor

      See identical proteins and their annotated locations for NP_001248349.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate splice site in the central coding region and lacks an exon in the 3' coding region, compared to variant 1. The resulting isoform (5) has an additional nt in the central region and lacks a segment in the C-terminal region, compared to isoform 1.
      Source sequence(s)
      AK130733, AU132426, BC000532, CN335053
      Consensus CDS
      CCDS58247.1
      UniProtKB/Swiss-Prot
      Q13438
      Related
      ENSP00000257966.8, OTTHUMP00000243432, ENST00000257966.12, OTTHUMT00000408353
      Conserved Domains (2) summary
      pfam07915
      Location:110181
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:175236
      PRKCSH; Glucosidase II beta subunit-like protein
    5. NM_001261421.1NP_001248350.1  protein OS-9 isoform 6 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AK298532, AU132426, BC000532, CN335053
      Consensus CDS
      CCDS58248.1
      UniProtKB/Swiss-Prot
      Q13438
      Related
      ENSP00000447866.1, OTTHUMP00000243431, ENST00000551035.5, OTTHUMT00000408352
      Conserved Domains (1) summary
      pfam07915
      Location:110160
      PRKCSH; Glucosidase II beta subunit-like protein
    6. NM_001261422.1NP_001248351.1  protein OS-9 isoform 7 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (7) is shorter than isoform 1.
      Source sequence(s)
      AK303858, AU132426, BC000532, CN335053
      Consensus CDS
      CCDS58246.1
      UniProtKB/Swiss-Prot
      Q13438
      Related
      ENSP00000389632.2, OTTHUMP00000243433, ENST00000435406.6, OTTHUMT00000408354
      Conserved Domains (1) summary
      pfam07915
      Location:110143
      PRKCSH; Glucosidase II beta subunit-like protein
    7. NM_001261423.1NP_001248352.1  protein OS-9 isoform 8 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks an exon in the 5' coding region and an exon in the 3' coding region, compared to variant 1. The resulting isoform (8) lacks two internal segments, compared to isoform 1.
      Source sequence(s)
      AK293435, AU132426, BC000532, CN335053
      Consensus CDS
      CCDS58249.1
      UniProtKB/Swiss-Prot
      Q13438
      Related
      ENSP00000407360.2, OTTHUMP00000243428, ENST00000439210.6, OTTHUMT00000408349
      Conserved Domains (2) summary
      pfam07915
      Location:54122
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:116177
      PRKCSH; Glucosidase II beta subunit-like protein
    8. NM_006812.3NP_006803.1  protein OS-9 isoform 1 precursor

      See identical proteins and their annotated locations for NP_006803.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also referred to as OS-9-1).
      Source sequence(s)
      AU132426, BC000532, BC023513, CN335053, U41635
      Consensus CDS
      CCDS31843.1
      UniProtKB/Swiss-Prot
      Q13438
      Related
      ENSP00000318165.7, OTTHUMP00000243423, ENST00000315970.11, OTTHUMT00000408344
      Conserved Domains (2) summary
      pfam07915
      Location:110181
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:175236
      PRKCSH; Glucosidase II beta subunit-like protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      57693955..57721557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268581.2XP_005268638.1  protein OS-9 isoform X1

      Conserved Domains (2) summary
      pfam07915
      Location:110181
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:175236
      PRKCSH; Glucosidase II beta subunit-like protein
    2. XM_006719200.2XP_006719263.1  protein OS-9 isoform X2

      Conserved Domains (2) summary
      pfam07915
      Location:110181
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:175236
      PRKCSH; Glucosidase II beta subunit-like protein
    3. XM_006719201.2XP_006719264.1  protein OS-9 isoform X3

      Conserved Domains (2) summary
      pfam07915
      Location:110181
      PRKCSH; Glucosidase II beta subunit-like protein
      cl06793
      Location:175236
      PRKCSH; Glucosidase II beta subunit-like protein
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