ERP27 - endoplasmic reticulum protein 27 Gene

Homo sapiens

Also known as PDIA8; C12orf46

Gene ID: 121506 | Gene type: protein coding

About ERP27

Cytogenetic location: 12p12.3 Genomic coordinates (GRCh38): 12:14,914,039-14,938,537 (from NCBI)

This gene has 3 transcripts (splice variants), 204 orthologues and 13 paralogues. Biased expression in pancreas (RPKM 211.6) and urinary bladder (RPKM 10.4).

Summary

This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]

ERP27 Products(2)

mRNA	Protein	Name
NM_001300784.2	NP_001287713.1	endoplasmic reticulum resident protein 27 isoform 2
NM_152321.4	NP_689534.1	endoplasmic reticulum resident protein 27 isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18802093	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ERP27 Protein Structure

Thioredoxin_6

0
100
200
273 a.a.

Protein Preferred Names

Protein Names

endoplasmic reticulum resident protein 27

ER protein 27

ERP27 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ERP27	Q96DN0	UBQLN1	Homo sapiens	Q9UMX0-2	Validated Y2H	25416956
Intra	ERP27	Q96DN0	UBQLN1	Homo sapiens	Q9UMX0-2	Y2H Prey Pooling	25416956
Intra	ERP27	Q96DN0	GOLGA8F	Homo sapiens	Q08AF8	Y2H Prey Pooling	32296183
Intra	ERP27	Q96DN0	GOLGA8F	Homo sapiens	Q08AF8	Y2H Array	32296183
Intra	ERP27	Q96DN0	SGTA	Homo sapiens	O43765	Y2H Array	32296183
Intra	ERP27	Q96DN0	SGTA	Homo sapiens	O43765	Y2H Prey Pooling	25416956
Intra	ERP27	Q96DN0	SGTA	Homo sapiens	O43765	Y2H Prey Pooling	32296183
Intra	ERP27	Q96DN0	EEF1D	Homo sapiens	P29692	Anti Tag CoIP	33961781
Intra	ERP27	Q96DN0	MED20	Homo sapiens	Q9H944	Y2H Array	32296183
Intra	ERP27	Q96DN0	MED20	Homo sapiens	Q9H944	Y2H Prey Pooling	32296183
Intra	ERP27	Q96DN0	MED20	Homo sapiens	Q9H944	Validated Y2H	32296183
Intra	ERP27	Q96DN0	BLOC1S2	Homo sapiens	Q6QNY1	Y2H Array	32296183
Intra	ERP27	Q96DN0	BLOC1S2	Homo sapiens	Q6QNY1	Y2H Prey Pooling	32296183
Intra	ERP27	Q96DN0	UBQLN1	Homo sapiens	Q9UMX0	Validated Y2H	25416956
Intra	ERP27	Q96DN0	UBQLN1	Homo sapiens	Q9UMX0	Y2H Array	25416956
Intra	ERP27	Q96DN0	UBQLN1	Homo sapiens	Q9UMX0	Y2H Prey Pooling	25416956
Intra	ERP27	Q96DN0	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ERP27 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70891	ERP27 Protein, Human (HEK293, His)	Q96DN0 (E26-L273)	≥95%

Related Diseases

Diseases

Alias

Mitochondrial Complex Iv Deficiency, Nuclear Type 5

Leigh Syndrome, French Canadian Type	Mitochondrial Complex V Deficiency Nuclear Type 4
Cytochrome C Oxidase Deficiency, French Canadian Type	Lsfc
Cox Deficiency, French Canadian Type	MC5DN4
MC4DN5	Cox Deficiency, Saguenay-Lac-Saint-Jean Type
Leigh Syndrome, Saguenay-Lac-Saint-Jean Type	Mitochondrial Complex V Deficiency, Nuclear Type 4
French Canadian Leigh Disease	Leigh Syndrome, French-Canadian Type
Leigh Syndrome , French Canadian Type	Mitochondrial Complex V Deficiency, Atp5a1 Type
French Canadian Type Cox Deficiency	French Canadian Type Cytochrome C Oxidase Deficiency
French Canadian Type Leigh Syndrome	Saguenay Lac Saint Jean Type Cox Deficiency
Saguenay Lac Saint Jean Type Leigh Syndrome	Cox Deficiency, Saguenay Lac Saint Jean Type
Leigh Syndrome, Saguenay Lac Saint Jean Type	Mitochondrial Complex V Deficiency, Nuclear Type 4
Mitochondrial Complex V Deficiency Atp5a1 Type	Mitochondrial Complex V Deficiency Type 4
Mitochondrial Complex V Deficiency, Nuclear, Type 4

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04513	ERP27 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ERP27	VGNC	VGNC:61956
Canis familiaris	ERP27	VGNC	VGNC:54942
Rattus norvegicus	ERP27	RGD	RGD:1565381
Mus musculus	ERP27	MGD	MGI:1916437
Macaca mulatta	ERP27	VGNC	VGNC:72369
Bos taurus	ERP27	VGNC	VGNC:56198
Others	ERP27	NCBI

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