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PDIA6 (protein disulfide isomerase family A member 6)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10130
Gene nameGene Name - the full gene name approved by the HGNC.
Protein disulfide isomerase family A member 6
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PDIA6
SynonymsGene synonyms aliases
ERP5, P5, TXNDC7
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.1
SummarySummary of gene provided in NCBI Entrez Gene.
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, two catalytically
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031810 hsa-miR-16-5p Proteomics 18668040
MIRT035870 hsa-miR-1304-5p CLASH 23622248
MIRT035802 hsa-miR-1909-3p CLASH 23622248
MIRT437628 hsa-miR-150-5p Microarray, qRT-PCR 22815788
MIRT437663 hsa-miR-195-5p Microarray, qRT-PCR 22815788
Transcription factors
Transcription factor Regulation Reference
YY1 Repression 1330541
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003756 Function Protein disulfide isomerase activity IEA
GO:0005515 Function Protein binding IPI 15466936, 21057456, 21670307, 24189400, 30021884, 32296183, 32814053
GO:0005615 Component Extracellular space IDA 19995400
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum TAS 16130169
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q15084
Protein name Protein disulfide-isomerase A6 (EC 5.3.4.1) (Endoplasmic reticulum protein 5) (ER protein 5) (ERp5) (Protein disulfide isomerase P5) (Thioredoxin domain-containing protein 7)
Protein function May function as a chaperone that inhibits aggregation of misfolded proteins (PubMed:12204115). Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1, which in turn inactivates ERN1 signaling (PubMed
PDB 1X5D , 3VWW , 3W8J , 4EF0 , 4GWR , 8CPQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin
26 129
Thioredoxin
Domain
PF00085 Thioredoxin
161 267
Thioredoxin
Domain
Sequence
MALLVLGLVSCTFFLAVNGLYSSSDDVIELTPSNFNREVIQSDSLWLVEFYAPWCGHCQR
LTPEWKKAATALKDVVKVGAVDADKHHSLGGQYGVQGFPTIKIFGSNKNRPEDYQGGRTG
EAIVDAALS
ALRQLVKDRLGGRSGGYSSGKQGRSDSSSKKDVIELTDDSFDKNVLDSEDV
WMVEFYAPWCGHCKNLEPEWAAAASEVKEQTKGKVKLAAVDATVNQVLASRYGIRGFPTI
KIFQKGESPVDYDGGRTRSDIVSRALD
LFSDNAPPPELLEIINEDIAKRTCEEHQLCVVA
VLPHILDTGAAGRNSYLEVLLKLADKYKKKMWGWLWTEAGAQSELETALGIGGFGYPAMA
AINARKMKFALLKGSFSEQGINEFLRELSFGRGSTAPVGGGAFPTIVEREPWDGRDGELP
VEDDIDLSDVELDDLGKDEL
Sequence length 440
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Protein processing in endoplasmic reticulum   XBP1(S) activates chaperone genes
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 31374203

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