Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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10130 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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PDIA6 |
SynonymsGene synonyms aliases
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ERP5, P5, TXNDC7 |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p25.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Transcription factors
|
Transcription factor |
Regulation |
Reference |
YY1 |
Repression |
1330541 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence |
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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.
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Associated diseases
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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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