PDIA5 (protein disulfide isomerase family A member 5)

Gene

• Entrez ID: 10954
• Gene name: Protein disulfide isomerase family A member 5
• Gene symbol: PDIA5
• Synonyms (NCBI Gene): PDIR
• Chromosome: 3
• Chromosome location: 3q21.1
• Summary: This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalyticall

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029455	hsa-miR-26b-5p	Microarray	19088304
MIRT471452	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT471451	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT471450	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT471449	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT471448	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT471447	hsa-miR-382-3p	PAR-CLIP	23592263
MIRT471446	hsa-miR-3688-3p	PAR-CLIP	23592263
MIRT471445	hsa-miR-3148	PAR-CLIP	23592263
MIRT471444	hsa-miR-6124	PAR-CLIP	23592263
MIRT471443	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT471452	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT471451	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT471450	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT471449	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT471448	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT471447	hsa-miR-382-3p	PAR-CLIP	23592263
MIRT471446	hsa-miR-3688-3p	PAR-CLIP	23592263
MIRT471445	hsa-miR-3148	PAR-CLIP	23592263
MIRT471444	hsa-miR-6124	PAR-CLIP	23592263
MIRT471443	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT1221486	hsa-miR-128	CLIP-seq
MIRT1221487	hsa-miR-27a	CLIP-seq
MIRT1221488	hsa-miR-27b	CLIP-seq
MIRT1221489	hsa-miR-3065-5p	CLIP-seq
MIRT1221490	hsa-miR-3190	CLIP-seq
MIRT1221491	hsa-miR-4491	CLIP-seq
MIRT1221492	hsa-miR-4657	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003756	Function	Protein disulfide isomerase activity	IBA
GO:0003756	Function	Protein disulfide isomerase activity	IDA	14627699
GO:0003756	Function	Protein disulfide isomerase activity	IEA
GO:0003756	Function	Protein disulfide isomerase activity	TAS	7556671
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 33961781
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS	7556671
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006457	Process	Protein folding	IBA
GO:0006457	Process	Protein folding	IDA	14627699
GO:0006457	Process	Protein folding	TAS	7556671
GO:0015035	Function	Protein-disulfide reductase activity	IDA	16677074
GO:0016491	Function	Oxidoreductase activity	TAS	7556671
GO:0016853	Function	Isomerase activity	IEA
GO:0022900	Process	Electron transport chain	TAS	7556671

Other IDs

• MIM: 616942
• HGNC: 24811
• e!Ensembl: ENSG00000065485

Protein

• UniProt ID: Q14554
• Protein name: Protein disulfide-isomerase A5 (EC 5.3.4.1) (Protein disulfide isomerase-related protein)
• PDB: 4I6X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00085	Thioredoxin	153 → 258	Thioredoxin	Domain
  PF00085	Thioredoxin	277 → 381	Thioredoxin	Domain
  PF00085	Thioredoxin	398 → 503	Thioredoxin	Domain

• Sequence:

  MARAGPAWLLLAIWVVLPSWLSSAKVSSLIERISDPKDLKKLLRTRNNVLVLYSKSEVAA
  ENHLRLLSTVAQAVKGQGTICWVDCGDAESRKLCKKMKVDLSPKDKKVELFHYQDGAFHT
  EYNRAVTFKSIVAFLKDPKGPPLWEEDPGAKDVVHLDSEKDFRRLLKKEEKPLLIMFYAP
  WCSMCKRMMPHFQKAATQLRGHAVLAGMNVYSSEFENIKEEYSVRGFPTICYFEKGRFLF
  QYDNYGSTAEDIVEWLKNPQPPQPQVPETPWADEGGSVYHLTDEDFDQFVKEHSSVLVMF
  HAPWCGHCKKMKPEFEKAAEALHGEADSSGVLAAVDATVNKALAERFHISEFPTLKYFKN
  GEKYAVPVLRTKKKFLEWMQNPEAPPPPEPTWEEQQTSVLHLVGDNFRETLKKKKHTLVM
  FYAPWCPHCKKVIPHFTATADAFKDDRKIACAAVDCVKDKNQDLCQQEAVKGYPTFHYYH
  YGKFAEKYDSDRTELGFTNYIRALREGDHERLGKKKEEL

• Sequence length: 519

Pathways

Reactome:

XBP1(S) activates chaperone genes

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma of Lung	Associate	35441736	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Associate	28487959	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Associate	36445533	★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Associate	25118708	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Associate	21655191	★☆☆☆☆ Found in Text Mining only
Glioma	Associate	32023222	★☆☆☆☆ Found in Text Mining only
Glioma	Stimulate	33664747	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	33664747	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	23217164	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	24636989, 33664747	★☆☆☆☆ Found in Text Mining only
Niemann Pick Disease Type C	Associate	23217164	★☆☆☆☆ Found in Text Mining only
Primary Ovarian Insufficiency	Associate	37847421	★☆☆☆☆ Found in Text Mining only