ERP27 - endoplasmic reticulum protein 27 Gene

Also Known as PDIA8; C12orf46

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 121506

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
Molecular Function GO Annotation Evidence References 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

Thioredoxin_6: Thioredoxin-like domain (64 - 250)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ERP27 Q96DN0 UBQLN1 Homo sapiens Q9UMX0-2 25416956
Intra
ERP27 Q96DN0 UBQLN1 Homo sapiens Q9UMX0-2 25416956
Intra
ERP27 Q96DN0 GOLGA8F Homo sapiens Q08AF8 32296183
Intra
ERP27 Q96DN0 GOLGA8F Homo sapiens Q08AF8 32296183
Intra
ERP27 Q96DN0 SGTA Homo sapiens O43765 32296183
Intra
ERP27 Q96DN0 SGTA Homo sapiens O43765 25416956
Intra
ERP27 Q96DN0 SGTA Homo sapiens O43765 32296183
Intra
ERP27 Q96DN0 EEF1D Homo sapiens P29692 33961781
Intra
ERP27 Q96DN0 MED20 Homo sapiens Q9H944 32296183
Intra
ERP27 Q96DN0 MED20 Homo sapiens Q9H944 32296183
Intra
ERP27 Q96DN0 MED20 Homo sapiens Q9H944 32296183
Intra
ERP27 Q96DN0 BLOC1S2 Homo sapiens Q6QNY1 32296183
Intra
ERP27 Q96DN0 BLOC1S2 Homo sapiens Q6QNY1 32296183
Intra
ERP27 Q96DN0 UBQLN1 Homo sapiens Q9UMX0 25416956
Intra
ERP27 Q96DN0 UBQLN1 Homo sapiens Q9UMX0 25416956
Intra
ERP27 Q96DN0 UBQLN1 Homo sapiens Q9UMX0 25416956
Intra
ERP27 Q96DN0 UBQLN2 Homo sapiens Q9UHD9 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ERP27 Proteins

Cat. No. 상품명 Accession Purity
HY-P70891 ERP27 Protein, Human (HEK293, His) Q96DN0 (E26-L273) ≥ 95%, as determined by reducing SDS-PAGE.

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

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