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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:58,087,738-58,115,340)mRNA (may differ from genome)Protein (667 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 119.57 RPKM in Minor Salivary Gland
Total median expression: 3701.74 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -61.57207-0.297 Picture PostScript Text
3' UTR -224.74648-0.347 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009011 - Man6P_isomerase_rcpt-bd_dom
IPR012913 - PRKCSH

Pfam Domains:
PF07915 - Glucosidase II beta subunit-like protein

SCOP Domains:
50911 - Mannose 6-phosphate receptor domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3AIH
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13438
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0005515 protein binding
GO:0030246 carbohydrate binding

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

Cellular Component:
GO:0000836 Hrd1p ubiquitin ligase complex
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005789 endoplasmic reticulum membrane
GO:0044322 endoplasmic reticulum quality control compartment


-  Descriptions from all associated GenBank mRNAs
  LF384692 - JP 2014500723-A/192195: Polycomb-Associated Non-Coding RNAs.
AK303291 - Homo sapiens cDNA FLJ55400 complete cds, highly similar to Protein OS-9 precursor.
AK291374 - Homo sapiens cDNA FLJ77871 complete cds, highly similar to Homo sapiens amplified in osteosarcoma, transcript variant 2, mRNA.
AB002806 - Homo sapiens OS-9 mRNA, complete cds.
U41635 - Human OS-9 precurosor mRNA, complete cds.
AK294870 - Homo sapiens cDNA FLJ59883 complete cds, highly similar to Protein OS-9 precursor.
AK293435 - Homo sapiens cDNA FLJ53302 complete cds, highly similar to Homo sapiens amplified in osteosarcoma (OS9), transcript variant 3, mRNA.
AK129781 - Homo sapiens cDNA FLJ26270 fis, clone DMC06052, highly similar to Protein OS-9 precursor.
AK296770 - Homo sapiens cDNA FLJ58173 complete cds, highly similar to Protein OS-9 precursor.
AK304533 - Homo sapiens cDNA FLJ58567 complete cds, highly similar to Homo sapiens amplified in osteosarcoma (OS9), transcript variant 2, mRNA.
AK298532 - Homo sapiens cDNA FLJ54114 complete cds, highly similar to Homo sapiens amplified in osteosarcoma (OS9), transcript variant 2, mRNA.
AK130733 - Homo sapiens cDNA FLJ27223 fis, clone SYN04785.
AK303858 - Homo sapiens cDNA FLJ53693 complete cds, highly similar to Homo sapiens amplified in osteosarcoma (OS9), transcript variant 2, mRNA.
BC000532 - Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum associated protein, mRNA (cDNA clone MGC:8691 IMAGE:2964645), complete cds.
BC007254 - Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum associated protein, mRNA (cDNA clone MGC:15510 IMAGE:3027883), complete cds.
LF324134 - JP 2014500723-A/131637: Polycomb-Associated Non-Coding RNAs.
BC023513 - Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum associated protein, mRNA (cDNA clone MGC:12783 IMAGE:4123782), complete cds.
CU674262 - Synthetic construct Homo sapiens gateway clone IMAGE:100017739 5' read OS9 mRNA.
CU675585 - Synthetic construct Homo sapiens gateway clone IMAGE:100017430 5' read OS9 mRNA.
CR456791 - Homo sapiens full open reading frame cDNA clone RZPDo834H034D for gene OS-9, amplified in osteosarcoma; complete cds, incl. stopcodon.
AB590116 - Synthetic construct DNA, clone: pFN21AB0404, Homo sapiens OS9 gene for osteosarcoma amplified 9, endoplasmic reticulum lectin, without stop codon, in Flexi system.
DQ892759 - Synthetic construct clone IMAGE:100005389; FLH189426.01X; RZPDo839F0174D amplified in osteosarcoma (OS9) gene, encodes complete protein.
DQ896004 - Synthetic construct Homo sapiens clone IMAGE:100010464; FLH189422.01L; RZPDo839F0164D amplified in osteosarcoma (OS9) gene, encodes complete protein.
KJ893179 - Synthetic construct Homo sapiens clone ccsbBroadEn_02573 OS9 gene, encodes complete protein.
KJ898320 - Synthetic construct Homo sapiens clone ccsbBroadEn_07714 OS9 gene, encodes complete protein.
LF324133 - JP 2014500723-A/131636: Polycomb-Associated Non-Coding RNAs.
LF324131 - JP 2014500723-A/131634: Polycomb-Associated Non-Coding RNAs.
LF324130 - JP 2014500723-A/131633: Polycomb-Associated Non-Coding RNAs.
AL137691 - Homo sapiens mRNA; cDNA DKFZp434P172 (from clone DKFZp434P172).
BC000476 - Homo sapiens cDNA clone IMAGE:2961642, **** WARNING: chimeric clone ****.
LF324129 - JP 2014500723-A/131632: Polycomb-Associated Non-Coding RNAs.
LF208924 - JP 2014500723-A/16427: Polycomb-Associated Non-Coding RNAs.
LF324128 - JP 2014500723-A/131631: Polycomb-Associated Non-Coding RNAs.
LF324125 - JP 2014500723-A/131628: Polycomb-Associated Non-Coding RNAs.
EF036505 - Homo sapiens OS-9 precursor, mRNA, partial cds.
BC006506 - Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum associated protein, mRNA (cDNA clone IMAGE:2961147), partial cds.
LF324122 - JP 2014500723-A/131625: Polycomb-Associated Non-Coding RNAs.
LF324119 - JP 2014500723-A/131622: Polycomb-Associated Non-Coding RNAs.
LF324117 - JP 2014500723-A/131620: Polycomb-Associated Non-Coding RNAs.
LF324116 - JP 2014500723-A/131619: Polycomb-Associated Non-Coding RNAs.
U09408 - Human clone OS-9 chromosome 12q13 mRNA sequence.
LF324114 - JP 2014500723-A/131617: Polycomb-Associated Non-Coding RNAs.
JD021303 - Sequence 2327 from Patent EP1572962.
JD032297 - Sequence 13321 from Patent EP1572962.
LF324113 - JP 2014500723-A/131616: Polycomb-Associated Non-Coding RNAs.
LF324111 - JP 2014500723-A/131614: Polycomb-Associated Non-Coding RNAs.
LF324110 - JP 2014500723-A/131613: Polycomb-Associated Non-Coding RNAs.
LF324109 - JP 2014500723-A/131612: Polycomb-Associated Non-Coding RNAs.
JD382358 - Sequence 363382 from Patent EP1572962.
JD415775 - Sequence 396799 from Patent EP1572962.
JD343704 - Sequence 324728 from Patent EP1572962.
JD188516 - Sequence 169540 from Patent EP1572962.
JD527985 - Sequence 509009 from Patent EP1572962.
JD427569 - Sequence 408593 from Patent EP1572962.
JD220766 - Sequence 201790 from Patent EP1572962.
JD544910 - Sequence 525934 from Patent EP1572962.
JD329528 - Sequence 310552 from Patent EP1572962.
JD321504 - Sequence 302528 from Patent EP1572962.
JD245302 - Sequence 226326 from Patent EP1572962.
JD153955 - Sequence 134979 from Patent EP1572962.
JD176677 - Sequence 157701 from Patent EP1572962.
JD289800 - Sequence 270824 from Patent EP1572962.
JD403375 - Sequence 384399 from Patent EP1572962.
JD093921 - Sequence 74945 from Patent EP1572962.
JD555074 - Sequence 536098 from Patent EP1572962.
LF324108 - JP 2014500723-A/131611: Polycomb-Associated Non-Coding RNAs.
JD363089 - Sequence 344113 from Patent EP1572962.
MA620269 - JP 2018138019-A/192195: Polycomb-Associated Non-Coding RNAs.
MA559711 - JP 2018138019-A/131637: Polycomb-Associated Non-Coding RNAs.
MA559710 - JP 2018138019-A/131636: Polycomb-Associated Non-Coding RNAs.
MA559708 - JP 2018138019-A/131634: Polycomb-Associated Non-Coding RNAs.
MA559707 - JP 2018138019-A/131633: Polycomb-Associated Non-Coding RNAs.
MA559706 - JP 2018138019-A/131632: Polycomb-Associated Non-Coding RNAs.
MA559705 - JP 2018138019-A/131631: Polycomb-Associated Non-Coding RNAs.
MA559702 - JP 2018138019-A/131628: Polycomb-Associated Non-Coding RNAs.
MA559699 - JP 2018138019-A/131625: Polycomb-Associated Non-Coding RNAs.
MA559696 - JP 2018138019-A/131622: Polycomb-Associated Non-Coding RNAs.
MA559694 - JP 2018138019-A/131620: Polycomb-Associated Non-Coding RNAs.
MA559693 - JP 2018138019-A/131619: Polycomb-Associated Non-Coding RNAs.
MA559691 - JP 2018138019-A/131617: Polycomb-Associated Non-Coding RNAs.
MA559690 - JP 2018138019-A/131616: Polycomb-Associated Non-Coding RNAs.
MA559688 - JP 2018138019-A/131614: Polycomb-Associated Non-Coding RNAs.
MA559687 - JP 2018138019-A/131613: Polycomb-Associated Non-Coding RNAs.
MA559686 - JP 2018138019-A/131612: Polycomb-Associated Non-Coding RNAs.
MA559685 - JP 2018138019-A/131611: Polycomb-Associated Non-Coding RNAs.
MA444501 - JP 2018138019-A/16427: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13438 (Reactome details) participates in the following event(s):

R-HSA-5362437 C-terminal Hh fragments are bound by lectins
R-HSA-5362450 Hh processing variants bind lectins
R-HSA-5362459 VCP-catalyzed ATP hydrolysis promotes the translocation of Hh-C into the cytosol
R-HSA-5387389 Hh processing variants are translocated to the cytosol in a VCP-dependent manner
R-HSA-8867288 OS9:SEL1:ERAD E3 ligase:DERL2 ubiquitinates unfolded protein:(GlcNAc)2 (Man)9-5
R-HSA-1022127 OS9:SEL1:ERAD E3 ligase:DERL2 transports Ub-unfolded protein:(GlcNAc)2 (Man)9-5 from ERQC to cytosol
R-HSA-5387386 Hh processing variants are recruited to SEL1:SYVN at the ER membrane
R-HSA-5362412 SYVN1 ubiquitinates Hh C-terminal fragments
R-HSA-5362441 C-terminal Hh fragments are recruited to SEL1:SYVN1 at the ER membrane
R-HSA-8866551 CFTR binds components of the ERAD machinery for ubiquitination and degradation
R-HSA-8866857 CFTR F508del binds components of the ERAD machinery for ubiquitination and degradation
R-HSA-8866542 VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosol
R-HSA-8866854 VCP-catalyzed ATP hydrolysis promotes the translocation of CFTR F508del into the cytosol
R-HSA-5483238 Hh processing variants are ubiquitinated
R-HSA-8866546 RNF5 and RNF185 ubiquitinate misfolded CFTR
R-HSA-8866856 RNF5 and RNF185 ubiquitinate CFTR F508del
R-HSA-5358346 Hedgehog ligand biogenesis
R-HSA-5362768 Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
R-HSA-901032 ER Quality Control Compartment (ERQC)
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-5678895 Defective CFTR causes cystic fibrosis
R-HSA-5358351 Signaling by Hedgehog
R-HSA-5387390 Hh mutants abrogate ligand secretion
R-HSA-901042 Calnexin/calreticulin cycle
R-HSA-382551 Transport of small molecules
R-HSA-5619084 ABC transporter disorders
R-HSA-162582 Signal Transduction
R-HSA-5663202 Diseases of signal transduction
R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-5619115 Disorders of transmembrane transporters
R-HSA-1643685 Disease
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A6NDD1, A6NFR7, A6NLB2, NM_006812, NP_006803, O00579, OS9_HUMAN, Q13438, Q8IZ58, Q9BW99
UCSC ID: uc001spj.3
RefSeq Accession: NM_006812
Protein: Q13438 (aka OS9_HUMAN)
CCDS: CCDS31843.1, CCDS31845.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006812.3
exon count: 15CDS single in 3' UTR: no RNA size: 2869
ORF size: 2004CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4127.00frame shift in genome: no % Coverage: 99.65
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.