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

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; AllianceGenome:HGNC:16994
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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 12q13.3-q14.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (57694132..57721557)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (57662503..57689908)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (58087915..58115340)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Monochorionic twins with selective fetal growth restriction: insight from placental whole-transcriptome analysis.
Title: Monochorionic twins with selective fetal growth restriction: insight from placental whole-transcriptome analysis.
The relative expression of OS9 and XTP3B and the distribution of glycan and non-glycan degrons within the same protein contribute to the fidelity.
Title: Redundant and Antagonistic Roles of XTP3B and OS9 in Decoding Glycan and Non-glycan Degrons in ER-Associated Degradation.
The endoplasmic reticulum-associated protein, OS-9, behaves as a lectin in targeting the immature calcium-sensing receptor.
Title: The endoplasmic reticulum-associated protein, OS-9, behaves as a lectin in targeting the immature calcium-sensing receptor.
OS-9 up-regulates occludin and claudin-1 by activating the MAP kinase (MAPK) pathway, and thus protects the epithelial barrier function of Caco-2 monolayer under hypoxia condition.
Title: A Novel Role of OS-9 in the Maintenance of Intestinal Barrier Function from Hypoxia-induced Injury via p38-dependent Pathway.
EDEM2 and OS-9 are required for ER-associated degradation of non-glycosylated sonic hedgehog
Title: EDEM2 and OS-9 are required for ER-associated degradation of non-glycosylated sonic hedgehog.
Unique regions mediate the interaction between OS-9 and GRP94.
Title: OS-9 facilitates turnover of nonnative GRP94 marked by hyperglycosylation.
It delivers mutant neuroserpin to ERAD by recognition of glycan side chains and provide the first in vivo proof of involvement of ERAD in degradation of mutant neuroserpin.
Title: Lectin OS-9 delivers mutant neuroserpin to endoplasmic reticulum associated degradation in familial encephalopathy with neuroserpin inclusion bodies.
long non-coding RNA ENST00000480739 suppresses tumour cell invasion by regulating OS-9 and HIF-1alpha in pancreatic ductal adenocarcinoma.
Title: A novel long non-coding RNA ENST00000480739 suppresses tumour cell invasion by regulating OS-9 and HIF-1α in pancreatic ductal adenocarcinoma.
Data indicate that the interaction of OS-9 and XTP3-B with CD147(CG) was inhibited by mutations to conserved residues in their lectin domains.
Title: Unassembled CD147 is an endogenous endoplasmic reticulum-associated degradation substrate.
OS-9 plays no direct functional role in HIF degradation since physical interaction of OS-9 with oxygen sensing HIF prolyl hydroxylases cannot occur in vivo due to their different subcellular localization
Title: The function of hypoxia-inducible factor (HIF) is independent of the endoplasmic reticulum protein OS-9.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D9S2056 (e-PCR)
- UniSTS:58445

MARC_11519-11520:1001089863:1 (e-PCR)
- UniSTS:267214

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

Process	Evidence Code	Pubs
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum unfolded protein response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of retrograde protein transport, ER to cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein retention in ER lumen	IDA Inferred from Direct Assay more info	PubMed
involved_in protein targeting	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to endoplasmic reticulum stress	IDA Inferred from Direct Assay more info	PubMed
involved_in retrograde protein transport, ER to cytosol	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype 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
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

Go to the top of the page Help

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)

Go to the top of the page Help

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.

Genomic

NG_029228.1 RefSeqGene

Range

5178..32603

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001017956.3 → NP_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/TrEMBL

A0A8V8TRD7

Related

ENSP00000450010.1, ENST00000552285.6

Conserved Domains (2) summary

pfam07915
Location:110 → 181

PRKCSH; Glucosidase II beta subunit-like protein

cl06793
Location:175 → 236

PRKCSH; Glucosidase II beta subunit-like protein
NM_001017957.3 → NP_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/TrEMBL

A0A8V8TRD7

Related

ENSP00000373794.5, ENST00000389142.10

Conserved Domains (2) summary

pfam07915
Location:110 → 181

PRKCSH; Glucosidase II beta subunit-like protein

cl06793
Location:175 → 236

PRKCSH; Glucosidase II beta subunit-like protein
NM_001017958.3 → NP_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/TrEMBL

A0A8V8TQI4

Related

ENSP00000373798.6, ENST00000389146.11

Conserved Domains (2) summary

pfam07915
Location:110 → 181

PRKCSH; Glucosidase II beta subunit-like protein

cl06793
Location:175 → 236

PRKCSH; Glucosidase II beta subunit-like protein
NM_001261420.2 → NP_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/TrEMBL

A0A8V8TRD7

Related

ENSP00000257966.8, ENST00000257966.13

Conserved Domains (2) summary

pfam07915
Location:110 → 181

PRKCSH; Glucosidase II beta subunit-like protein

cl06793
Location:175 → 236

PRKCSH; Glucosidase II beta subunit-like protein
NM_001261421.2 → NP_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/TrEMBL

A0A8V8TRD7

Related

ENSP00000447866.1, ENST00000551035.5

Conserved Domains (1) summary

pfam07915
Location:110 → 160

PRKCSH; Glucosidase II beta subunit-like protein
NM_001261422.2 → NP_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/TrEMBL

A0A8V8TRD7

Related

ENSP00000389632.2, ENST00000435406.6

Conserved Domains (1) summary

pfam07915
Location:110 → 143

PRKCSH; Glucosidase II beta subunit-like protein
NM_001261423.2 → NP_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/TrEMBL

A0A8V8TRD7

Related

ENSP00000407360.2, ENST00000439210.6

Conserved Domains (2) summary

pfam07915
Location:54 → 122

PRKCSH; Glucosidase II beta subunit-like protein

cl06793
Location:116 → 177

PRKCSH; Glucosidase II beta subunit-like protein
NM_001410978.1 → NP_001397907.1 protein OS-9 isoform 9 precursor

Status: REVIEWED

Source sequence(s)

AC025165

Consensus CDS

CCDS91712.1

UniProtKB/TrEMBL

A0A8V8TR34, A0A8V8TRE0

Related

ENSP00000515130.1, ENST00000700661.1
NM_001410979.1 → NP_001397908.1 protein OS-9 isoform 10 precursor

Status: REVIEWED

Source sequence(s)

AC025165

Consensus CDS

CCDS91713.1

UniProtKB/TrEMBL

A0A8V8TPZ4, A0A8V8TRD7

Related

ENSP00000515128.1, ENST00000700659.1
NM_001410980.1 → NP_001397909.1 protein OS-9 isoform 11 precursor

Status: REVIEWED

Source sequence(s)

AC025165

Consensus CDS

CCDS91714.1

UniProtKB/TrEMBL

A0A8V8TQI8, A0A8V8TRE0

Related

ENSP00000515134.1, ENST00000700665.1
NM_006812.4 → NP_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

A6NDD1, A6NFR7, A6NLB2, A8K5Q9, B4DE28, B4DPX1, B4E1I6, E7ENT8, E7EW91, F8VUH2, G3XA88, O00579, Q13438, Q6IBL2, Q8IZ58, Q9BW99

UniProtKB/TrEMBL

A0A8V8TQI4

Related

ENSP00000318165.7, ENST00000315970.12

Conserved Domains (2) summary

pfam07915
Location:110 → 181

PRKCSH; Glucosidase II beta subunit-like protein

cl06793
Location:175 → 236

PRKCSH; Glucosidase II beta subunit-like protein