| Name |
|---|
EBP Geneemopamil binding protein (sterol isomerase) The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008] |
SC5D Genesterol-C5-desaturase This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] |
LOC100419852 Genesterol carrier protein 2 pseudogene |
SC4MOP Genesterol-C4-methyl oxidase pseudogene |
SCP2D1 GeneSCP2 sterol-binding domain containing 1 Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Mar 2025] |
SREBF2 Genesterol regulatory element binding transcription factor 2 This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
SREBF1 Genesterol regulatory element binding transcription factor 1 This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017] |
SOAT2 Genesterol O-acyltransferase 2 Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008] |
SOAT1 Genesterol O-acyltransferase 1 The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011] |
SCP2 Genesterol carrier protein 2 This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010] |
LOC390956 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
PPIAP8 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 8 |
PPIAP9 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 9 |
PPIAP4 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 4 |
PPIAP5 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 5 |
PPIAP6 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 6 |
PPIAP7 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 7 |
PPIAP1 Genepeptidylprolyl isomerase A (cyclophilin A), pseudogene 1 |
PPIAP2 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 2 |
PPIAP3 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 3 |
LOC100421597 Genepeptidylprolyl isomerase (cyclophilin)-like 4 pseudogene |
LOC649873 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
CSCI GeneCorticosterone side-chain isomerase |
LOC101927654 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
LOC105374327 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
IDI1 Geneisopentenyl-diphosphate delta isomerase 1 IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008] |
IDI2 Geneisopentenyl-diphosphate delta isomerase 2 The protein encoded by this gene catalyzes the conversion of isopentenyl diphosphate to dimethylallyl diphosphate, which is a precursor for the synthesis of cholesterol and other isoprenoids. This gene, which is a product of an ancestral gene duplication event, encodes a protein that may be involved in the aggregation of alpha-synuclein in the cerebral cortex of patients with Lewy body disease. In addition, segmental copy number gains in this locus have been associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2016] |
TPI1 Genetriosephosphate isomerase 1 This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] |
PPIH Genepeptidylprolyl isomerase H (cyclophilin H) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. [provided by RefSeq, Jul 2008] |
PPIG Genepeptidylprolyl isomerase G (cyclophilin G) Enables peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025] |
PPIF Genepeptidylprolyl isomerase F The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq, Jul 2008] |
PPIE Genepeptidylprolyl isomerase E (cyclophilin E) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities, and it also exhibits RNA-binding activity. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 1, has been identified. [provided by RefSeq, Aug 2010] |
PPID Genepeptidylprolyl isomerase D The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008] |
PPIC Genepeptidylprolyl isomerase C (cyclophilin C) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008] |
PPIB Genepeptidylprolyl isomerase B (cyclophilin B) The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009] |
PPIA Genepeptidylprolyl isomerase A (cyclophilin A) This gene encodes a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. [provided by RefSeq, Jul 2008] |
LOC391587 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC100996503 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
MRI1 Genemethylthioribose-1-phosphate isomerase 1 This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016] |
PPIAL4A Genepeptidylprolyl isomerase A (cyclophilin A)-like 4A Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
PPIAL4E Genepeptidylprolyl isomerase A (cyclophilin A)-like 4E Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
LOC643997 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC105371242 Genepeptidyl-prolyl cis-trans isomerase A-like 4G Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PIN1P1 Genepeptidylprolyl cis/trans isomerase, NIMA-interacting 1 pseudogene 1 |
LOC442460 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC101060458 Genepeptidyl-prolyl cis-trans isomerase A-like |
PPIAL4C Genepeptidylprolyl isomerase A (cyclophilin A)-like 4C Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
LOC402644 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
PPIHP1 Genepeptidylprolyl isomerase H (cyclophilin H) pseudogene 1 |
PPIHP2 Genepeptidylprolyl isomerase H (cyclophilin H) pseudogene 2 |
PPIAP13 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 13 |
PPIAP10 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 10 |
PPIAP11 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 11 |
LOC402213 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
RPIA Generibose 5-phosphate isomerase A The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010] |
LOC256374 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
TPI1P1 Genetriosephosphate isomerase 1 pseudogene 1 |
TPI1P2 Genetriosephosphate isomerase 1 pseudogene 2 |
TPI1P3 Genetriosephosphate isomerase 1 pseudogene 3 |
LOC202319 Genepeptidylprolyl isomerase A (cyclophilin A)-like 4G pseudogene |
LOC100288703 Genepeptidylprolyl isomerase A (cyclophilin A)-like 4C pseudogene |
PIN1 Genepeptidylprolyl cis/trans isomerase, NIMA-interacting 1 Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer's disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011] |
PIN4 Genepeptidylprolyl cis/trans isomerase, NIMA-interacting 4 This gene encodes a member of the parvulin subfamily of the peptidyl-prolyl cis/trans isomerase protein family. The encoded protein catalyzes the isomerization of peptidylprolyl bonds, and may play a role in the cell cycle, chromatin remodeling, and/or ribosome biogenesis. The encoded protein may play an additional role in the mitochondria. [provided by RefSeq, Dec 2009] |
LOC101928610 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
LOC105374236 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
LOC100288241 Geneprotein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) pseudogene |
LOC442713 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC101928624 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
RPIAP1 Generibose 5-phosphate isomerase A pseudogene 1 |
LOC100289244 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC100130299 Geneisopentenyl-diphosphate delta isomerase 1 pseudogene |
PPIEL Genepeptidylprolyl isomerase E-like pseudogene This transcribed pseudogene is related to PPIE (Gene ID: 10450). Expression of this pseudogene may be downregulated in non-small cell lung cancer (NSCLC). Differential DNA methylation of this locus may be associated with intellectual disability and bipolar disorder in human patients. [provided by RefSeq, Sep 2016] |
LOC100287361 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
PDIA3P1 Geneprotein disulfide isomerase family A, member 3 pseudogene 1 |
MPI Genemannose phosphate isomerase Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] |
LOC105369232 Genepeptidyl-prolyl cis-trans isomerase FKBP4 pseudogene |
LOC390791 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC100507231 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
PPIAL4D Genepeptidylprolyl isomerase A (cyclophilin A)-like 4D Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PPIAL4G Genepeptidylprolyl isomerase A (cyclophilin A)-like 4G Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PPIAL4F Genepeptidylprolyl isomerase A (cyclophilin A)-like 4F Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
GPI Geneglucose-6-phosphate isomerase This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016] |
PPWD1 Genepeptidylprolyl isomerase domain and WD repeat containing 1 Enables peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in nuclear body. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Mar 2025] |
LOC729739 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC100506946 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC647002 Geneisopentenyl-diphosphate delta isomerase 1 pseudogene |
LOC101060363 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
LOC126170 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC101926910 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
PPIAP30 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 30 |
PPIAP31 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 31 |
PPIAP32 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 32 |
PPIAP33 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 33 |
HSD3B7 Genehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] |
HSD3B1 Genehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016] |
HSD3B2 Genehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] |
LOC729313 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC342541 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
PDIA6 Geneprotein disulfide isomerase family A, member 6 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 active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016] |
PDIA5 Geneprotein disulfide isomerase family A, member 5 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 catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. The N-terminal TRX-like domain is the primary binding site for the major ER chaperone calreticulin and possibly other proteins and substrates as well. Alternative splicing results in multiple protein- and non-protein-coding transcript variants. [provided by RefSeq, Dec 2016] |
PDIA4 Geneprotein disulfide isomerase family A, member 4 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 catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016] |
PDIA3 Geneprotein disulfide isomerase family A, member 3 This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. This protein also functions as a molecular chaperone that prevents the formation of protein aggregates. [provided by RefSeq, Dec 2016] |
PDIA2 Geneprotein disulfide isomerase family A, member 2 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 active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. The protein plays a role in the folding of nascent proteins in the endoplasmic reticulum by forming disulfide bonds through its thiol isomerase, oxidase, and reductase activity. The encoded protein also possesses estradiol-binding activity and can modulate intracellular estradiol levels. [provided by RefSeq, Sep 2017] |
LOC100506099 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
PPIL1 Genepeptidylprolyl isomerase (cyclophilin)-like 1 This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008] |
LOC100421361 Geneisopentenyl-diphosphate delta isomerase 1 pseudogene |
LOC131055 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC442744 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
LOC105378561 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
PDILT Geneprotein disulfide isomerase-like, testis expressed 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 has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016] |
LOC100996727 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
DUPD1 Genedual specificity phosphatase and pro isomerase domain containing 1 Enables protein homodimerization activity and protein tyrosine/serine/threonine phosphatase activity. Involved in protein dephosphorylation. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025] |
HYI Genehydroxypyruvate isomerase (putative) This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] |
LOC391532 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
PIN4P1 Geneprotein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 pseudogene 1 |
PPIL2 Genepeptidylprolyl isomerase (cyclophilin)-like 2 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] |
PPIL3 Genepeptidylprolyl isomerase (cyclophilin)-like 3 This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2008] |
PPIL4 Genepeptidylprolyl isomerase (cyclophilin)-like 4 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. [provided by RefSeq, Jul 2008] |
PPIL6 Genepeptidylprolyl isomerase (cyclophilin)-like 6 Predicted to enable RNA polymerase II CTD heptapeptide repeat P3 isomerase activity; RNA polymerase II CTD heptapeptide repeat P6 isomerase activity; and cyclosporin A binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
ECI2 Geneenoyl-CoA delta isomerase 2 This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011] |
ECI1 Geneenoyl-CoA delta isomerase 1 This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010] |
LOC128192 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
PPIAP16 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 16 |
PPIAP17 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 17 |
PPIAP14 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 14 |
PPIAP15 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 15 |
PPIAP18 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 18 |
PPIAP19 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 19 |
PPIGP1 Genepeptidylprolyl isomerase G (cyclophilin G) pseudogene 1 |
PPIL1P1 Genepeptidylprolyl isomerase (cyclophilin)-like 1 pseudogene 1 |
LOC101927689 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
LOC202227 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC101928064 Genepeptidyl-prolyl cis-trans isomerase A pseudogene |
LOC392352 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
LOC440063 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene |
TPI1P4 Genetriosephosphate isomerase 1 pseudogene 4 |
PPIAP29 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 29 |
PPIAP28 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 28 |
PPIAP27 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 27 |
PPIAP26 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 26 |
PPIAP25 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 25 |
PPIAP24 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 24 |
PPIAP23 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 23 |
PPIAP22 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 22 |
PPIAP21 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 21 |
PPIAP20 Genepeptidylprolyl isomerase A (cyclophilin A) pseudogene 20 |
PPIAP40 Genepeptidylprolyl isomerase A pseudogene 40 |
PPIAP60 Genepeptidylprolyl isomerase A pseudogene 60 |
PPIAP39 Genepeptidylprolyl isomerase A pseudogene 39 |
PPIAP59 Genepeptidylprolyl isomerase A pseudogene 59 |
PPIAL4H Genepeptidylprolyl isomerase A like 4H Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |