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

Gene ID: 10956, updated on 8-Jul-2021

Summary

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
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
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Genomic context

See OS9 in Genome Data Viewer
Location:
12q13.3-q14.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57694132..57721557)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58087915..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 microRNA 6759 Neighboring gene cyclin dependent kinase 4

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

Associated conditions

Description Tests
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
enables protease binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of Hrd1p ubiquitin ligase complex NAS
Non-traceable Author Statement
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
is_active_in endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    5178..32603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001017956.3NP_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
    Consensus CDS
    CCDS31844.1
    UniProtKB/Swiss-Prot
    Q13438
    Related
    ENSP00000450010.1, ENST00000552285.5
    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_001017957.3NP_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
    Consensus CDS
    CCDS31846.1
    UniProtKB/Swiss-Prot
    Q13438
    Related
    ENSP00000373794.5, ENST00000389142.9
    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_001017958.3NP_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, U41635
    Consensus CDS
    CCDS31845.1
    UniProtKB/Swiss-Prot
    Q13438
    Related
    ENSP00000373798.6, ENST00000389146.10
    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_001261420.2NP_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
    Consensus CDS
    CCDS58247.1
    UniProtKB/Swiss-Prot
    Q13438
    Related
    ENSP00000257966.8, ENST00000257966.12
    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_001261421.2NP_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
    Consensus CDS
    CCDS58248.1
    UniProtKB/Swiss-Prot
    Q13438
    Related
    ENSP00000447866.1, ENST00000551035.5
    Conserved Domains (1) summary
    pfam07915
    Location:110160
    PRKCSH; Glucosidase II beta subunit-like protein
  6. NM_001261422.2NP_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
    Consensus CDS
    CCDS58246.1
    UniProtKB/Swiss-Prot
    Q13438
    Related
    ENSP00000389632.2, ENST00000435406.6
    Conserved Domains (1) summary
    pfam07915
    Location:110143
    PRKCSH; Glucosidase II beta subunit-like protein
  7. NM_001261423.2NP_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
    Consensus CDS
    CCDS58249.1
    UniProtKB/Swiss-Prot
    Q13438
    Related
    ENSP00000407360.2, ENST00000439210.6
    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_006812.4NP_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, U41635
    Consensus CDS
    CCDS31843.1
    UniProtKB/Swiss-Prot
    Q13438
    Related
    ENSP00000318165.7, ENST00000315970.12
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    57694132..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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