Human Gene OS9 (uc001spj.3) Description and Page Index
Description: Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA. RefSeq Summary (NM_006812): 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]. Transcript (Including UTRs) Position: hg19 chr12:58,087,738-58,115,340 Size: 27,603 Total Exon Count: 15 Strand: + Coding Region Position: hg19 chr12:58,087,945-58,114,692 Size: 26,748 Coding Exon Count: 15
ID:OS9_HUMAN DESCRIPTION: RecName: Full=Protein OS-9; AltName: Full=Amplified in osteosarcoma 9; Flags: Precursor; FUNCTION: Lectin which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation (ERAD). May bind terminally misfolded non-glycosylated proteins as well as improperly folded glycoproteins, retain them in the ER, and possibly transfer them to the ubiquitination machinery and promote their degradation. Possible targets include TRPV4. SUBUNIT: Probably part of the HRD1 ubiquitin ligase complex composed at least of SYVN1/HRD1 and SEL1L with which it interacts directly. Through this complex it may interact with ERLEC1 and HSPA5. Interacts with DERL2. Interacts with HSP90B1 and CREB3. INTERACTION: Q9GZT9:EGLN1; NbExp=4; IntAct=EBI-1174342, EBI-1174818; Q16665:HIF1A; NbExp=9; IntAct=EBI-1174342, EBI-447269; SUBCELLULAR LOCATION: Endoplasmic reticulum lumen. TISSUE SPECIFICITY: Ubiquitously expressed. Found as well in all tumor cell lines analyzed, amplified in sarcomas. Highly expressed in osteosarcoma OSA-CL and rhabdomyosarcoma RH30 cell lines. Isoform 2 is the major isoform detected in all cell types examined. INDUCTION: Up-regulated in response to endoplasmic reticulum stress (at protein level). PTM: Intramolecular disulfide bonds. PTM: Isoform 1 and isoform 2 are N-glycosylated. SIMILARITY: Belongs to the OS-9 family. SIMILARITY: Contains 1 PRKCSH domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): OS9 CDC HuGE Published Literature: OS9
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13438
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006511 ubiquitin-dependent protein catabolic process GO:0006605 protein targeting GO:0006621 protein retention in ER lumen GO:0016567 protein ubiquitination GO:0030433 ER-associated ubiquitin-dependent protein catabolic process GO:0034976 response to endoplasmic reticulum stress GO:0055085 transmembrane transport GO:1904153 negative regulation of retrograde protein transport, ER to cytosol GO:1904380 endoplasmic reticulum mannose trimming