psui3905/ncbi_genes_summary huggingface dataset:
PDHX, Official Symbol PDHXprovided by HGNC Official Full Name pyruvate dehydrogenase complex component Xprovided by HGNC Primary source HGNC:HGNC:21350 See related Ensembl:ENSG00000110435 MIM:608769; AllianceGenome:HGNC:21350 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as E3BP; OPDX; PDX1; proX; DLDBP; PDHXD Summary The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in heart (RPKM 24.7), testis (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
PDIA2, Official Symbol PDIA2provided by HGNC Official Full Name protein disulfide isomerase family A member 2provided by HGNC Primary source HGNC:HGNC:14180 See related Ensembl:ENSG00000185615 MIM:608012; AllianceGenome:HGNC:14180 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDI; PDA2; PDIP; PDIR 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, 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] Expression Biased expression in pancreas (RPKM 284.3) and stomach (RPKM 33.5) See more Orthologs mouse all
PDIA3, Official Symbol PDIA3provided by HGNC Official Full Name protein disulfide isomerase family A member 3provided by HGNC Primary source HGNC:HGNC:4606 See related Ensembl:ENSG00000167004 MIM:602046; AllianceGenome:HGNC:4606 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P58; ER60; ERp57; ERp60; ERp61; GRP57; GRP58; PI-PLC; HsT17083; HEL-S-269; HEL-S-93n Summary 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] Expression Ubiquitous expression in thyroid (RPKM 333.0), prostate (RPKM 175.9) and 25 other tissues See more Orthologs mouse all
PDIA3P2, Official Symbol PDIA3P2provided by HGNC Official Full Name protein disulfide isomerase family A member 3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:49403 See related AllianceGenome:HGNC:49403 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PDIA4, Official Symbol PDIA4provided by HGNC Official Full Name protein disulfide isomerase family A member 4provided by HGNC Primary source HGNC:HGNC:30167 See related Ensembl:ENSG00000155660 MIM:620018; AllianceGenome:HGNC:30167 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ERP70; ERP72; ERp-72 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 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] Expression Broad expression in thyroid (RPKM 166.5), liver (RPKM 67.6) and 24 other tissues See more Orthologs mouse all
PDIA5, Official Symbol PDIA5provided by HGNC Official Full Name protein disulfide isomerase family A member 5provided by HGNC Primary source HGNC:HGNC:24811 See related Ensembl:ENSG00000065485 MIM:616942; AllianceGenome:HGNC:24811 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDIR 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 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] Expression Ubiquitous expression in placenta (RPKM 25.8), prostate (RPKM 23.2) and 24 other tissues See more Orthologs mouse all
PDIA6, Official Symbol PDIA6provided by HGNC Official Full Name protein disulfide isomerase family A member 6provided by HGNC Primary source HGNC:HGNC:30168 See related Ensembl:ENSG00000143870 MIM:611099; AllianceGenome:HGNC:30168 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P5; ERP5; TXNDC7 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, 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] Expression Ubiquitous expression in thyroid (RPKM 159.7), placenta (RPKM 70.6) and 25 other tissues See more Orthologs mouse all
PDIK1L, Official Symbol PDIK1Lprovided by HGNC Official Full Name PDLIM1 interacting kinase 1 likeprovided by HGNC Primary source HGNC:HGNC:18981 See related Ensembl:ENSG00000175087 MIM:610785; AllianceGenome:HGNC:18981 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CLIK1L; STK35L2 Summary Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in meiotic cell cycle. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 7.2), bone marrow (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
PDILT, Official Symbol PDILTprovided by HGNC Official Full Name protein disulfide isomerase like, testis expressedprovided by HGNC Primary source HGNC:HGNC:27338 See related Ensembl:ENSG00000169340 MIM:618588; AllianceGenome:HGNC:27338 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDIA7 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 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] Expression Restricted expression toward testis (RPKM 10.1) See more Orthologs mouse all
PDK1, Official Symbol PDK1provided by HGNC Official Full Name pyruvate dehydrogenase kinase 1provided by HGNC Primary source HGNC:HGNC:8809 See related Ensembl:ENSG00000152256 MIM:602524; AllianceGenome:HGNC:8809 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013] Annotation information Note: PDK1 (Gene ID: 5163) and PDPK1 (Gene ID: 5170) share the PDK1 symbol/alias in common. PDK1 is a widely used alternative name for 3-phosphoinositide dependent protein kinase 1 (PDPK1). [01 Jun 2018] Expression Ubiquitous expression in heart (RPKM 4.7), adrenal (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
PDK1P2, Official Symbol PDK1P2provided by HGNC Official Full Name PDK1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:55004 See related Ensembl:ENSG00000233446 AllianceGenome:HGNC:55004 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PDK2, Official Symbol PDK2provided by HGNC Official Full Name pyruvate dehydrogenase kinase 2provided by HGNC Primary source HGNC:HGNC:8810 See related Ensembl:ENSG00000005882 MIM:602525; AllianceGenome:HGNC:8810 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDHK2; PDKII Summary This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in kidney (RPKM 32.6), heart (RPKM 32.6) and 24 other tissues See more Orthologs mouse all
PDK3, Official Symbol PDK3provided by HGNC Official Full Name pyruvate dehydrogenase kinase 3provided by HGNC Primary source HGNC:HGNC:8811 See related Ensembl:ENSG00000067992 MIM:300906; AllianceGenome:HGNC:8811 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMTX6; GS1-358P8.4 Summary The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in brain (RPKM 5.9), testis (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
PDK4, Official Symbol PDK4provided by HGNC Official Full Name pyruvate dehydrogenase kinase 4provided by HGNC Primary source HGNC:HGNC:8812 See related Ensembl:ENSG00000004799 MIM:602527; AllianceGenome:HGNC:8812 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 319.9), adrenal (RPKM 136.4) and 18 other tissues See more Orthologs mouse all
PDLIM1, Official Symbol PDLIM1provided by HGNC Official Full Name PDZ and LIM domain 1provided by HGNC Primary source HGNC:HGNC:2067 See related Ensembl:ENSG00000107438 MIM:605900; AllianceGenome:HGNC:2067 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CLIM1; CLP36; CLP-36; hCLIM1; HEL-S-112 Summary This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012] Expression Ubiquitous expression in small intestine (RPKM 111.6), colon (RPKM 111.5) and 24 other tissues See more Orthologs mouse all
PDLIM1P2, Official Symbol PDLIM1P2provided by HGNC Official Full Name PDZ and LIM domain 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:48945 See related Ensembl:ENSG00000265881 AllianceGenome:HGNC:48945 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PDLIM1P3, Official Symbol PDLIM1P3provided by HGNC Official Full Name PDZ and LIM domain 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:48946 See related Ensembl:ENSG00000264172 AllianceGenome:HGNC:48946 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PDLIM1P4, Official Symbol PDLIM1P4provided by HGNC Official Full Name PDZ and LIM domain 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:48947 See related Ensembl:ENSG00000249274 AllianceGenome:HGNC:48947 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PDLIM2, Official Symbol PDLIM2provided by HGNC Official Full Name PDZ and LIM domain 2provided by HGNC Primary source HGNC:HGNC:13992 See related Ensembl:ENSG00000120913 MIM:609722; AllianceGenome:HGNC:13992 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SLIM; MYSTIQUE Summary This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] Expression Broad expression in spleen (RPKM 22.4), lung (RPKM 9.5) and 21 other tissues See more Orthologs mouse all
PDLIM3, Official Symbol PDLIM3provided by HGNC Official Full Name PDZ and LIM domain 3provided by HGNC Primary source HGNC:HGNC:20767 See related Ensembl:ENSG00000154553 MIM:605889; AllianceGenome:HGNC:20767 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALP Summary The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012] Expression Broad expression in esophagus (RPKM 61.1), heart (RPKM 58.0) and 19 other tissues See more Orthologs mouse all
PDLIM4, Official Symbol PDLIM4provided by HGNC Official Full Name PDZ and LIM domain 4provided by HGNC Primary source HGNC:HGNC:16501 See related Ensembl:ENSG00000131435 MIM:603422; AllianceGenome:HGNC:16501 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RIL Summary Enables alpha-actinin binding activity; protein homodimerization activity; and protein phosphatase binding activity. Involved in actin cytoskeleton reorganization. Located in several cellular components, including lamellipodium; perinuclear region of cytoplasm; and stress fiber. Part of filamentous actin. Implicated in osteoporosis. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 8.6), prostate (RPKM 6.1) and 21 other tissues See more Orthologs mouse all
PDLIM5, Official Symbol PDLIM5provided by HGNC Official Full Name PDZ and LIM domain 5provided by HGNC Primary source HGNC:HGNC:17468 See related Ensembl:ENSG00000163110 MIM:605904; AllianceGenome:HGNC:17468 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as L9; ENH; LIM; ENH1 Summary This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] Expression Broad expression in heart (RPKM 70.2), prostate (RPKM 31.5) and 23 other tissues See more Orthologs mouse all
PDLIM7, Official Symbol PDLIM7provided by HGNC Official Full Name PDZ and LIM domain 7provided by HGNC Primary source HGNC:HGNC:22958 See related Ensembl:ENSG00000196923 MIM:605903; AllianceGenome:HGNC:22958 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LMP1; LMP3 Summary The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Broad expression in endometrium (RPKM 61.1), prostate (RPKM 52.9) and 22 other tissues See more Orthologs mouse all
PDP1, Official Symbol PDP1provided by HGNC Official Full Name pyruvate dehydrogenase phosphatase catalytic subunit 1provided by HGNC Primary source HGNC:HGNC:9279 See related Ensembl:ENSG00000164951 MIM:605993; AllianceGenome:HGNC:9279 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDH; PDP; PDPC; PPM2A; PPM2C Summary Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] Expression Broad expression in adrenal (RPKM 28.1), brain (RPKM 24.1) and 24 other tissues See more Orthologs mouse all
PDP2, Official Symbol PDP2provided by HGNC Official Full Name pyruvate dehydrogenase phosphatase catalytic subunit 2provided by HGNC Primary source HGNC:HGNC:30263 See related Ensembl:ENSG00000172840 MIM:615499; AllianceGenome:HGNC:30263 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PPM2B; PDPC 2; PPM2C2 Summary This gene is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2016] Expression Ubiquitous expression in thyroid (RPKM 4.8), kidney (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
PDPK1, Official Symbol PDPK1provided by HGNC Official Full Name 3-phosphoinositide dependent protein kinase 1provided by HGNC Primary source HGNC:HGNC:8816 See related Ensembl:ENSG00000140992 MIM:605213; AllianceGenome:HGNC:8816 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDK1; PDPK2; PDPK2P; PRO0461 Summary Enables 3-phosphoinositide-dependent protein kinase activity; phospholipase activator activity; and phospholipase binding activity. Involved in several processes, including cell surface receptor signaling pathway; regulation of protein kinase activity; and regulation of signal transduction. Acts upstream of or within intracellular signal transduction. Located in cell projection; cytosol; and plasma membrane. Implicated in prostate cancer. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: PDK1 (Gene ID: 5163) and PDPK1 (Gene ID: 5170) share the PDK1 symbol/alias in common. PDK1 is a widely used alternative name for 3-phosphoinositide dependent protein kinase 1 (PDPK1). [01 Jun 2018] Expression Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
PDPK2P, Official Symbol PDPK2Pprovided by HGNC Official Full Name 3-phosphoinositide dependent protein kinase 2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:49897 See related Ensembl:ENSG00000205918 AllianceGenome:HGNC:49897 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction and peptidyl-serine phosphorylation. Predicted to be located in cytoplasm and membrane. [provided by Alliance of Genome Resources, Apr 2022]
PDPN, Official Symbol PDPNprovided by HGNC Official Full Name podoplaninprovided by HGNC Primary source HGNC:HGNC:29602 See related Ensembl:ENSG00000162493 MIM:608863; AllianceGenome:HGNC:29602 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as T1A; GP36; GP40; Gp38; OTS8; T1A2; TI1A; D2-40; T1A-2; AGGRUS; HT1A-1; PA2.26 Summary This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 41.5), urinary bladder (RPKM 20.1) and 13 other tissues See more Orthologs mouse all
PDPR, Official Symbol PDPRprovided by HGNC Official Full Name pyruvate dehydrogenase phosphatase regulatory subunitprovided by HGNC Primary source HGNC:HGNC:30264 See related Ensembl:ENSG00000090857 MIM:617835; AllianceGenome:HGNC:30264 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDP3 Summary Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in testis (RPKM 9.0), brain (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
PDRG1, Official Symbol PDRG1provided by HGNC Official Full Name p53 and DNA damage regulated 1provided by HGNC Primary source HGNC:HGNC:16119 See related Ensembl:ENSG00000088356 MIM:610789; AllianceGenome:HGNC:16119 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDRG; C20orf126 Summary Predicted to enable unfolded protein binding activity. Predicted to be involved in protein folding. Predicted to be located in cytoplasm. Predicted to be part of prefoldin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 24.8), placenta (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
PDS5A, Official Symbol PDS5Aprovided by HGNC Official Full Name PDS5 cohesin associated factor Aprovided by HGNC Primary source HGNC:HGNC:29088 See related Ensembl:ENSG00000121892 MIM:613200; AllianceGenome:HGNC:29088 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIG54; SCC112; SCC-112 Summary The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Expression Ubiquitous expression in thyroid (RPKM 18.1), lymph node (RPKM 17.1) and 25 other tissues See more Orthologs mouse all
PDS5B, Official Symbol PDS5Bprovided by HGNC Official Full Name PDS5 cohesin associated factor Bprovided by HGNC Primary source HGNC:HGNC:20418 See related Ensembl:ENSG00000083642 MIM:605333; AllianceGenome:HGNC:20418 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AS3; APRIN; CG008 Summary This gene encodes a protein that interacts with the conserved protein complex termed cohesin. The cohesin complex holds together sister chromatids and facilitates accurate chromosome segregation during mitosis and meiosis. This protein is also a negative regulator of cell proliferation and may be a tumor-suppressor gene. [provided by RefSeq, Jul 2015] Expression Ubiquitous expression in brain (RPKM 8.3), endometrium (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
PDSS1, Official Symbol PDSS1provided by HGNC Official Full Name decaprenyl diphosphate synthase subunit 1provided by HGNC Primary source HGNC:HGNC:17759 See related Ensembl:ENSG00000148459 MIM:607429; AllianceGenome:HGNC:17759 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DPS; SPS; TPT; COQ1; TPRT; COQ1A; TPT 1; hDPS1; COQ10D2 Summary The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008] Expression Broad expression in duodenum (RPKM 4.4), small intestine (RPKM 3.8) and 24 other tissues See more Orthologs mouse all
PDSS2, Official Symbol PDSS2provided by HGNC Official Full Name decaprenyl diphosphate synthase subunit 2provided by HGNC Primary source HGNC:HGNC:23041 See related Ensembl:ENSG00000164494 MIM:610564; AllianceGenome:HGNC:23041 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DLP1; COQ1B; hDLP1; COQ10D3; C6orf210; bA59I9.3 Summary The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in kidney (RPKM 6.5), adrenal (RPKM 5.0) and 25 other tissues See more Orthologs mouse all
PDX1, Official Symbol PDX1provided by HGNC Official Full Name pancreatic and duodenal homeobox 1provided by HGNC Primary source HGNC:HGNC:6107 See related Ensembl:ENSG00000139515 MIM:600733; AllianceGenome:HGNC:6107 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GSF; IPF1; IUF1; IDX-1; MODY4; PDX-1; STF-1; PAGEN1 Summary The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017] Expression Biased expression in duodenum (RPKM 9.6), stomach (RPKM 1.5) and 3 other tissues See more Orthologs mouse all
PDXDC1, Official Symbol PDXDC1provided by HGNC Official Full Name pyridoxal dependent decarboxylase domain containing 1provided by HGNC Primary source HGNC:HGNC:28995 See related Ensembl:ENSG00000179889 MIM:614244; AllianceGenome:HGNC:28995 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LP8165 Summary Enables cadherin binding activity. Predicted to be involved in carboxylic acid metabolic process. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 42.5), duodenum (RPKM 33.1) and 25 other tissues See more Orthologs mouse all
PDXDC2P, Official Symbol PDXDC2Pprovided by HGNC Official Full Name pyridoxal dependent decarboxylase domain containing 2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:27559 See related Ensembl:ENSG00000255185 AllianceGenome:HGNC:27559 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDXDC2 Summary Predicted to enable carboxy-lyase activity and pyridoxal phosphate binding activity. Predicted to be involved in carboxylic acid metabolic process. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
PDXDC2P-NPIPB14P, Official Symbol PDXDC2P-NPIPB14Pprovided by HGNC Official Full Name PDXDC2P-NPIPB14P readthrough, transcribed pseudogeneprovided by HGNC Primary source HGNC:HGNC:53158 See related Ensembl:ENSG00000196696 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This locus represents naturally-occurring readthrough transcription between two pseudogenes, PDXDC2P (pyridoxal dependent decarboxylase domain containing 2, pseudogene) and NPIPB14P (nuclear pore complex interacting protein family, member B14, pseudogene). The individual pseudogene loci are not curated as transcribed regions. Readthrough transcripts likely do not encode functional proteins. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in testis (RPKM 24.1), duodenum (RPKM 18.2) and 25 other tissues See more
PDXK, Official Symbol PDXKprovided by HGNC Official Full Name pyridoxal kinaseprovided by HGNC Primary source HGNC:HGNC:8819 See related Ensembl:ENSG00000160209 MIM:179020; AllianceGenome:HGNC:8819 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PKH; PNK; HMSN6C; PRED79; C21orf97; HEL-S-1a; C21orf124 Summary The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 24.7), fat (RPKM 18.6) and 25 other tissues See more Orthologs mouse all
PDXP, Official Symbol PDXPprovided by HGNC Official Full Name pyridoxal phosphataseprovided by HGNC Primary source HGNC:HGNC:30259 See related Ensembl:ENSG00000241360 MIM:609246; AllianceGenome:HGNC:30259 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CIN; PLP; dJ37E16.5 Summary Pyridoxal 5-prime-phosphate (PLP) is the active form of vitamin B6 that acts as a coenzyme in maintaining biochemical homeostasis. The preferred degradation route from PLP to 4-pyridoxic acid involves the dephosphorylation of PLP by PDXP (Jang et al., 2003 [PubMed 14522954]).[supplied by OMIM, Mar 2008] Expression Broad expression in brain (RPKM 43.8), small intestine (RPKM 14.2) and 21 other tissues See more Orthologs mouse all
PDXP-DT, Official Symbol PDXP-DTprovided by HGNC Official Full Name PDXP divergent transcriptprovided by HGNC Primary source HGNC:HGNC:40525 See related Ensembl:ENSG00000233360 AllianceGenome:HGNC:40525 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in spleen (RPKM 5.3), appendix (RPKM 5.2) and 23 other tissues See more
PDYN, Official Symbol PDYNprovided by HGNC Official Full Name prodynorphinprovided by HGNC Primary source HGNC:HGNC:8820 See related Ensembl:ENSG00000101327 MIM:131340; AllianceGenome:HGNC:8820 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADCA; PENKB; SCA23 Summary The protein encoded by this gene is a preproprotein that is proteolytically processed to form the secreted opioid peptides beta-neoendorphin, dynorphin, leu-enkephalin, rimorphin, and leumorphin. These peptides are ligands for the kappa-type of opioid receptor. Dynorphin is involved in modulating responses to several psychoactive substances, including cocaine. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010] Expression Restricted expression toward brain (RPKM 14.6) See more Orthologs mouse all
PDYN-AS1, Official Symbol PDYN-AS1provided by HGNC Official Full Name PDYN antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53462 See related Ensembl:ENSG00000233896 AllianceGenome:HGNC:53462 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
PDZD11, Official Symbol PDZD11provided by HGNC Official Full Name PDZ domain containing 11provided by HGNC Primary source HGNC:HGNC:28034 See related Ensembl:ENSG00000120509 MIM:300632; AllianceGenome:HGNC:28034 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PISP; AIPP1; PDZK11 Summary Enables protein C-terminus binding activity. Involved in pore complex assembly. Located in basolateral plasma membrane and cytosol. Part of pore complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 12.6), thyroid (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
PDZD2, Official Symbol PDZD2provided by HGNC Official Full Name PDZ domain containing 2provided by HGNC Primary source HGNC:HGNC:18486 See related Ensembl:ENSG00000133401 MIM:610697; AllianceGenome:HGNC:18486 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AIPC; PIN1; PAPIN; PDZK3 Summary The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015] Expression Biased expression in fat (RPKM 15.3), ovary (RPKM 9.0) and 12 other tissues See more Orthologs mouse all
PDZD4, Official Symbol PDZD4provided by HGNC Official Full Name PDZ domain containing 4provided by HGNC Primary source HGNC:HGNC:21167 See related Ensembl:ENSG00000067840 MIM:300634; AllianceGenome:HGNC:21167 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LU1; LNX5; PDZK4; PDZRN4L Summary Predicted to be located in cell cortex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 47.1), spleen (RPKM 4.7) and 4 other tissues See more Orthologs mouse all
PDZD7, Official Symbol PDZD7provided by HGNC Official Full Name PDZ domain containing 7provided by HGNC Primary source HGNC:HGNC:26257 See related Ensembl:ENSG00000186862 MIM:612971; AllianceGenome:HGNC:26257 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDZK7; DFNB57 Summary This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] Expression Broad expression in small intestine (RPKM 3.0), duodenum (RPKM 1.7) and 20 other tissues See more Orthologs mouse all
PDZD8, Official Symbol PDZD8provided by HGNC Official Full Name PDZ domain containing 8provided by HGNC Primary source HGNC:HGNC:26974 See related Ensembl:ENSG00000165650 MIM:614235; AllianceGenome:HGNC:26974 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDZK8; IDDADF Summary Predicted to enable lipid binding activity and metal ion binding activity. Involved in several processes, including mitochondrial calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and regulation of cell morphogenesis. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 51.5), testis (RPKM 17.7) and 24 other tissues See more Orthologs mouse all