| Gene Information | |
|---|---|
| Gene Name | P4HB |
| Organism | Homo sapiens (Human) |
| Gene Length | 508 |
| Protein Names | Protein disulfide-isomerase (PDI) (EC 5.3.4.1) (Cellular thyroid hormone-binding protein) (Prolyl 4-hydroxylase subunit beta) (p55) |
| Target Name | protein disulfide-isomerase |
| Target Type | NA |
| Gene Age | 886 ( ENSG00000185624 ) |
| Evolutionary Stage | Opisthokonta |
| AlphaFoldDB | P07237 |
| Gene Card | P4HB |
| Uniprot ID | P07237 |
| Pfam | PF00085 |
| In ASD | yes |
| Allosteric Prediction | yes (0.35164423) |
| Ortholog in Animals | Alpaca_ P4HB ( ortholog_one2one ) Dog_ P4HB ( ortholog_one2one ) GuineaPig_ P4HB ( ortholog_one2one ) Macaque_ P4HB ( ortholog_one2one ) Mouse_ P4hb ( ortholog_one2one ) Pig_ P4HB ( ortholog_one2one ) Rat_ P4hb ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | ERP27, PDIA6, TMX1, TXNDC11, TMX4, TMX3, PDILT, ERP44, PDIA2, PDIA3, PDIA4, PDIA5, TXNDC5 |
| Tissue | pancreas |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001212(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 1BJX (NMR - ) 1MEK (NMR - ) 1X5C (NMR - ) 2BJX (NMR - ) 2K18 (NMR - ) 3BJ5 (X-ray 2.20A ) 3UEM (X-ray 2.29A ) 4EKZ (X-ray 2.51A ) 4EL1 (X-ray 2.88A ) 4JU5 (X-ray 2.28A ) 6I7S (X-ray 2.50A ) |
| DBSNP | rs786204843 |
| Subcellular location [CC] | Endoplasmic reticulum {ECO:0000269|PubMed:23475612, ECO:0000269|PubMed:32149426}. Endoplasmic reticulum lumen {ECO:0000269|PubMed:10636893, ECO:0000269|PubMed:23475612}. Melanosome {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}. Cell membrane {ECO:0000269|PubMed:21670307}; Peripheral membrane protein {ECO:0000305}. Note=Highly abundant. In some cell types, seems to be also secreted or associated with the plasma membrane, where it undergoes constant shedding and replacement from intracellular sources (Probable). Localizes near CD4-enriched regions on lymphoid cell surfaces (PubMed:11181151). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:10636893). Colocalizes with MTTP in the endoplasmic reticulum (PubMed:23475612). {ECO:0000269|PubMed:10636893, ECO:0000269|PubMed:11181151, ECO:0000269|PubMed:23475612, ECO:0000305}. |
| Mouse PG classification | NA |
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