psui3905/ncbi_genes_summary huggingface dataset:
PLD1, Official Symbol PLD1provided by HGNC Official Full Name phospholipase D1provided by HGNC Primary source HGNC:HGNC:9067 See related Ensembl:ENSG00000075651 MIM:602382; AllianceGenome:HGNC:9067 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 CVDD; CVDP1 Summary This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in gall bladder (RPKM 28.0), duodenum (RPKM 12.6) and 24 other tissues See more Orthologs mouse all
PLD2, Official Symbol PLD2provided by HGNC Official Full Name phospholipase D2provided by HGNC Primary source HGNC:HGNC:9068 See related Ensembl:ENSG00000129219 MIM:602384; AllianceGenome:HGNC:9068 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 PLD1C Summary The protein encoded by this gene catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. The activity of the encoded enzyme is enhanced by phosphatidylinositol 4,5-bisphosphate and ADP-ribosylation factor-1. This protein localizes to the peripheral membrane and may be involved in cytoskeletal organization, cell cycle control, transcriptional regulation, and/or regulated secretion. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] Expression Ubiquitous expression in esophagus (RPKM 17.0), skin (RPKM 14.6) and 23 other tissues See more Orthologs mouse all
PLD3, Official Symbol PLD3provided by HGNC Official Full Name phospholipase D family member 3provided by HGNC Primary source HGNC:HGNC:17158 See related Ensembl:ENSG00000105223 MIM:615698; AllianceGenome:HGNC:17158 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 AD19; HUK4; HU-K4; SCA46 Summary This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in brain (RPKM 96.3), spleen (RPKM 74.5) and 25 other tissues See more Orthologs mouse all
PLD4, Official Symbol PLD4provided by HGNC Official Full Name phospholipase D family member 4provided by HGNC Primary source HGNC:HGNC:23792 See related Ensembl:ENSG00000166428 MIM:618488; AllianceGenome:HGNC:23792 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 C14orf175 Summary Predicted to enable single-stranded DNA 5'-3' exodeoxyribonuclease activity. Predicted to be involved in hematopoietic progenitor cell differentiation; phagocytosis; and regulation of cytokine production involved in inflammatory response. Predicted to be located in early endosome and endoplasmic reticulum membrane. Predicted to be active in several cellular components, including endoplasmic reticulum; phagocytic vesicle; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 31.7), spleen (RPKM 4.6) and 9 other tissues See more Orthologs mouse all
PLD5, Official Symbol PLD5provided by HGNC Official Full Name phospholipase D family member 5provided by HGNC Primary source HGNC:HGNC:26879 See related Ensembl:ENSG00000180287 AllianceGenome:HGNC:26879 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 PLDC Summary Predicted to enable catalytic activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PLD6, Official Symbol PLD6provided by HGNC Official Full Name phospholipase D family member 6provided by HGNC Primary source HGNC:HGNC:30447 See related Ensembl:ENSG00000179598 MIM:614960; AllianceGenome:HGNC:30447 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 ZUC Summary Enables cardiolipin hydrolase activity and protein homodimerization activity. Involved in mitochondrial fusion. Acts upstream of or within positive regulation of mitochondrial fusion. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 12.6), prostate (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
PLEK, Official Symbol PLEKprovided by HGNC Official Full Name pleckstrinprovided by HGNC Primary source HGNC:HGNC:9070 See related Ensembl:ENSG00000115956 MIM:173570; AllianceGenome:HGNC:9070 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 P47; PLEK1 Summary Enables phosphatidylinositol-3,4-bisphosphate binding activity; protein homodimerization activity; and protein kinase C binding activity. Involved in several processes, including G protein-coupled receptor signaling pathway; actin cytoskeleton organization; and positive regulation of supramolecular fiber organization. Located in cytoplasm and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 230.3), lymph node (RPKM 68.5) and 6 other tissues See more Orthologs mouse all
PLEK2, Official Symbol PLEK2provided by HGNC Official Full Name pleckstrin 2provided by HGNC Primary source HGNC:HGNC:19238 See related Ensembl:ENSG00000100558 MIM:608007; AllianceGenome:HGNC:19238 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 The protein encoded by this gene associates with membrane-bound phosphatidylinositols generated by phosphatidylinositol 3-kinase. The encoded protein then interacts with the actin cytoskeleton to induce cell spreading. In conjunction with complement component 1, q subcomponent, B chain (C1QB), this gene shows an increase in expression in melanoma cells and may serve as an accurate biomarker for the disease. [provided by RefSeq, Dec 2015] Expression Broad expression in adrenal (RPKM 16.6), small intestine (RPKM 14.3) and 17 other tissues See more Orthologs mouse all
PLEKHA1, Official Symbol PLEKHA1provided by HGNC Official Full Name pleckstrin homology domain containing A1provided by HGNC Primary source HGNC:HGNC:14335 See related Ensembl:ENSG00000107679 MIM:607772; AllianceGenome:HGNC:14335 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 TAPP1 Summary This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010] Expression Ubiquitous expression in skin (RPKM 23.3), lung (RPKM 17.3) and 24 other tissues See more Orthologs mouse all
PLEKHA2, Official Symbol PLEKHA2provided by HGNC Official Full Name pleckstrin homology domain containing A2provided by HGNC Primary source HGNC:HGNC:14336 See related Ensembl:ENSG00000169499 MIM:607773; AllianceGenome:HGNC:14336 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 TAPP2 Summary Enables fibronectin binding activity; laminin binding activity; and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in positive regulation of cell-matrix adhesion. Located in cytoplasm and membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 32.5), spleen (RPKM 19.2) and 23 other tissues See more Orthologs mouse all
PLEKHA3, Official Symbol PLEKHA3provided by HGNC Official Full Name pleckstrin homology domain containing A3provided by HGNC Primary source HGNC:HGNC:14338 See related Ensembl:ENSG00000116095 MIM:607774; AllianceGenome:HGNC:14338 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 FAPP1 Summary Enables identical protein binding activity and phosphatidylinositol-4-phosphate binding activity. Predicted to be involved in ceramide transport and intermembrane lipid transfer. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 2.6), adrenal (RPKM 2.0) and 25 other tissues See more Orthologs mouse all
PLEKHA4, Official Symbol PLEKHA4provided by HGNC Official Full Name pleckstrin homology domain containing A4provided by HGNC Primary source HGNC:HGNC:14339 See related Ensembl:ENSG00000105559 MIM:607769; AllianceGenome:HGNC:14339 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 PEPP1 Summary This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Ubiquitous expression in ovary (RPKM 7.2), endometrium (RPKM 6.0) and 24 other tissues See more Orthologs mouse all
PLEKHA5, Official Symbol PLEKHA5provided by HGNC Official Full Name pleckstrin homology domain containing A5provided by HGNC Primary source HGNC:HGNC:30036 See related Ensembl:ENSG00000052126 MIM:607770; AllianceGenome:HGNC:30036 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 PEPP2; PEPP-2 Summary Predicted to enable phosphatidylinositol phosphate binding activity. Predicted to act upstream of or within reproductive system development. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 6.7), ovary (RPKM 5.6) and 24 other tissues See more Orthologs mouse all
PLEKHA6, Official Symbol PLEKHA6provided by HGNC Official Full Name pleckstrin homology domain containing A6provided by HGNC Primary source HGNC:HGNC:17053 See related Ensembl:ENSG00000143850 MIM:607771; AllianceGenome:HGNC:17053 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 PEPP3; PEPP-3 Expression Broad expression in stomach (RPKM 5.9), kidney (RPKM 5.6) and 22 other tissues See more Orthologs mouse all
PLEKHA7, Official Symbol PLEKHA7provided by HGNC Official Full Name pleckstrin homology domain containing A7provided by HGNC Primary source HGNC:HGNC:27049 See related Ensembl:ENSG00000166689 MIM:612686; AllianceGenome:HGNC:27049 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 Summary Enables delta-catenin binding activity. Involved in epithelial cell-cell adhesion; pore complex assembly; and zonula adherens maintenance. Located in several cellular components, including centrosome; nucleoplasm; and zonula adherens. Part of pore complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 8.9), duodenum (RPKM 8.8) and 24 other tissues See more Orthologs mouse all
PLEKHA8, Official Symbol PLEKHA8provided by HGNC Official Full Name pleckstrin homology domain containing A8provided by HGNC Primary source HGNC:HGNC:30037 See related Ensembl:ENSG00000106086 MIM:608639; AllianceGenome:HGNC:30037 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 FAPP2 Summary Enables several functions, including ceramide binding activity; glycolipid transfer activity; and phosphatidylinositol-4-phosphate binding activity. Involved in ER to Golgi ceramide transport. Located in nucleoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 2.2), testis (RPKM 1.3) and 25 other tissues See more Orthologs mouse all
PLEKHA8P1, Official Symbol PLEKHA8P1provided by HGNC Official Full Name pleckstrin homology domain containing A8 pseudogene 1provided by HGNC Primary source HGNC:HGNC:30222 See related Ensembl:ENSG00000134297 AllianceGenome:HGNC:30222 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAPP2; FAPP-2; hFAPP2; PLEKHA8; PLEKHA9 Summary Predicted to enable ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Predicted to be involved in ER to Golgi ceramide transport and intermembrane lipid transfer. Predicted to be active in cytosol and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 3.1), placenta (RPKM 1.7) and 25 other tissues See more
PLEKHB1, Official Symbol PLEKHB1provided by HGNC Official Full Name pleckstrin homology domain containing B1provided by HGNC Primary source HGNC:HGNC:19079 See related Ensembl:ENSG00000021300 MIM:607651; AllianceGenome:HGNC:19079 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 KPL1; PHR1; PHRET1 Summary Predicted to enable protein C-terminus binding activity and protein homodimerization activity. Predicted to be involved in regulation of cell differentiation. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 91.0), thyroid (RPKM 7.0) and 2 other tissues See more Orthologs mouse all
PLEKHB2, Official Symbol PLEKHB2provided by HGNC Official Full Name pleckstrin homology domain containing B2provided by HGNC Primary source HGNC:HGNC:19236 See related Ensembl:ENSG00000115762 MIM:618452; AllianceGenome:HGNC:19236 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 EVT2 Summary Enables phosphatidylinositol-3,4,5-trisphosphate binding activity. Predicted to be involved in regulation of cell differentiation. Predicted to be located in recycling endosome membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 52.2), brain (RPKM 41.1) and 24 other tissues See more Orthologs mouse all
PLEKHD1, Official Symbol PLEKHD1provided by HGNC Official Full Name pleckstrin homology and coiled-coil domain containing D1provided by HGNC Primary source HGNC:HGNC:20148 See related Ensembl:ENSG00000175985 AllianceGenome:HGNC:20148 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 UPF0639 Expression Low expression observed in reference dataset See more Orthologs mouse all
PLEKHF1, Official Symbol PLEKHF1provided by HGNC Official Full Name pleckstrin homology and FYVE domain containing 1provided by HGNC Primary source HGNC:HGNC:20764 See related Ensembl:ENSG00000166289 MIM:615200; AllianceGenome:HGNC:20764 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 APPD; LAPF; PHAFIN1; ZFYVE15 Summary Enables phosphatidylinositol-3-phosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylinositol-5-phosphate binding activity. Involved in endosome organization; positive regulation of autophagy; and protein localization to plasma membrane. Located in lysosome. Colocalizes with endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 4.0), spleen (RPKM 2.2) and 24 other tissues See more Orthologs mouse all
PLEKHF2, Official Symbol PLEKHF2provided by HGNC Official Full Name pleckstrin homology and FYVE domain containing 2provided by HGNC Primary source HGNC:HGNC:20757 See related Ensembl:ENSG00000175895 MIM:615208; AllianceGenome:HGNC:20757 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 EAPF; PHAFIN2; ZFYVE18 Summary Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in protein transport. Located in transport vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 31.1), lymph node (RPKM 29.6) and 24 other tissues See more Orthologs mouse all
PLEKHG1, Official Symbol PLEKHG1provided by HGNC Official Full Name pleckstrin homology and RhoGEF domain containing G1provided by HGNC Primary source HGNC:HGNC:20884 See related Ensembl:ENSG00000120278 MIM:620134; AllianceGenome:HGNC:20884 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 ARHGEF41 Summary Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 8.2), lymph node (RPKM 3.6) and 21 other tissues See more Orthologs mouse all
PLEKHG2, Official Symbol PLEKHG2provided by HGNC Official Full Name pleckstrin homology and RhoGEF domain containing G2provided by HGNC Primary source HGNC:HGNC:29515 See related Ensembl:ENSG00000090924 MIM:611893; AllianceGenome:HGNC:29515 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 CLG; LDAMD; ARHGEF42; CTB-60E11.4 Summary The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017] Expression Ubiquitous expression in endometrium (RPKM 7.0), appendix (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
PLEKHG3, Official Symbol PLEKHG3provided by HGNC Official Full Name pleckstrin homology and RhoGEF domain containing G3provided by HGNC Primary source HGNC:HGNC:20364 See related Ensembl:ENSG00000126822 MIM:617940; AllianceGenome:HGNC:20364 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 ARHGEF43; KIAA0599 Summary Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 8.9), kidney (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
PLEKHG4, Official Symbol PLEKHG4provided by HGNC Official Full Name pleckstrin homology and RhoGEF domain containing G4provided by HGNC Primary source HGNC:HGNC:24501 See related Ensembl:ENSG00000196155 MIM:609526; AllianceGenome:HGNC:24501 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 SCA4; PRTPHN1; ARHGEF44 Summary The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Expression Broad expression in testis (RPKM 20.1), ovary (RPKM 10.4) and 18 other tissues See more Orthologs mouse all
PLEKHG4B, Official Symbol PLEKHG4Bprovided by HGNC Official Full Name pleckstrin homology and RhoGEF domain containing G4Bprovided by HGNC Primary source HGNC:HGNC:29399 See related Ensembl:ENSG00000153404 AllianceGenome:HGNC:29399 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 ARHGEF48 Summary This gene encodes a large protein that contains a pleckstrin homology domain and may function as a guanine nucleotide exchange factor. [provided by RefSeq, May 2017] Expression Biased expression in thyroid (RPKM 1.2), testis (RPKM 0.6) and 8 other tissues See more Orthologs all
PLEKHG5, Official Symbol PLEKHG5provided by HGNC Official Full Name pleckstrin homology and RhoGEF domain containing G5provided by HGNC Primary source HGNC:HGNC:29105 See related Ensembl:ENSG00000171680 MIM:611101; AllianceGenome:HGNC:29105 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 Syx; Tech; DSMA4; CMTRIC; GEF720; ARHGEF45 Summary This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Expression Broad expression in skin (RPKM 31.5), spleen (RPKM 14.2) and 15 other tissues See more Orthologs mouse all
PLEKHG6, Official Symbol PLEKHG6provided by HGNC Official Full Name pleckstrin homology and RhoGEF domain containing G6provided by HGNC Primary source HGNC:HGNC:25562 See related Ensembl:ENSG00000008323 MIM:611743; AllianceGenome:HGNC:25562 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 MyoGEF; ARHGEF46 Summary Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in cell junction and centrosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in small intestine (RPKM 12.7), colon (RPKM 11.9) and 11 other tissues See more Orthologs mouse all
PLEKHG7, Official Symbol PLEKHG7provided by HGNC Official Full Name pleckstrin homology and RhoGEF domain containing G7provided by HGNC Primary source HGNC:HGNC:33829 See related Ensembl:ENSG00000187510 AllianceGenome:HGNC:33829 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 C12orf74 Summary Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Rho protein signal transduction. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in urinary bladder (RPKM 1.1), lymph node (RPKM 0.8) and 12 other tissues See more Orthologs mouse all
PLEKHH1, Official Symbol PLEKHH1provided by HGNC Official Full Name pleckstrin homology, MyTH4 and FERM domain containing H1provided by HGNC Primary source HGNC:HGNC:17733 See related Ensembl:ENSG00000054690 AllianceGenome:HGNC:17733 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 Summary Predicted to be located in cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in thyroid (RPKM 29.6), brain (RPKM 19.8) and 13 other tissues See more Orthologs mouse all
PLEKHH2, Official Symbol PLEKHH2provided by HGNC Official Full Name pleckstrin homology, MyTH4 and FERM domain containing H2provided by HGNC Primary source HGNC:HGNC:30506 See related Ensembl:ENSG00000152527 MIM:612723; AllianceGenome:HGNC:30506 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 PLEKHH1L Summary Predicted to enable actin binding activity. Predicted to be involved in negative regulation of actin filament depolymerization. Located in several cellular components, including cytosol; lamellipodium; and nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 15.4), endometrium (RPKM 10.8) and 21 other tissues See more Orthologs mouse all
PLEKHH3, Official Symbol PLEKHH3provided by HGNC Official Full Name pleckstrin homology, MyTH4 and FERM domain containing H3provided by HGNC Primary source HGNC:HGNC:26105 See related Ensembl:ENSG00000068137 AllianceGenome:HGNC:26105 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 Summary Predicted to be involved in signal transduction. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 6.3), fat (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
PLEKHJ1, Official Symbol PLEKHJ1provided by HGNC Official Full Name pleckstrin homology domain containing J1provided by HGNC Primary source HGNC:HGNC:18211 See related Ensembl:ENSG00000104886 MIM:617834; AllianceGenome:HGNC:18211 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 GNRPX Summary Predicted to be involved in endosome organization; receptor recycling; and retrograde transport, endosome to Golgi. Predicted to be located in cytosol. Predicted to be active in early endosome; recycling endosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 22.0), small intestine (RPKM 18.6) and 25 other tissues See more Orthologs mouse all
PLEKHM1, Official Symbol PLEKHM1provided by HGNC Official Full Name pleckstrin homology and RUN domain containing M1provided by HGNC Primary source HGNC:HGNC:29017 See related Ensembl:ENSG00000225190 MIM:611466; AllianceGenome:HGNC:29017 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 B2; AP162; OPTA3; OPTB6 Summary The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] Expression Ubiquitous expression in esophagus (RPKM 12.9), bone marrow (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
PLEKHM1P1, Official Symbol PLEKHM1P1provided by HGNC Official Full Name pleckstrin homology and RUN domain containing M1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:35411 See related Ensembl:ENSG00000291117 AllianceGenome:HGNC:35411 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PLEKHM1P Expression Ubiquitous expression in bone marrow (RPKM 24.7), skin (RPKM 11.0) and 24 other tissues See more
PLEKHM2, Official Symbol PLEKHM2provided by HGNC Official Full Name pleckstrin homology and RUN domain containing M2provided by HGNC Primary source HGNC:HGNC:29131 See related Ensembl:ENSG00000116786 MIM:609613; AllianceGenome:HGNC:29131 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 SKIP Summary This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in bone marrow (RPKM 21.8), testis (RPKM 21.5) and 25 other tissues See more Orthologs mouse all
PLEKHM3, Official Symbol PLEKHM3provided by HGNC Official Full Name pleckstrin homology domain containing M3provided by HGNC Primary source HGNC:HGNC:34006 See related Ensembl:ENSG00000178385 MIM:619186; AllianceGenome:HGNC:34006 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 DAPR; PLEKHM1L Summary Predicted to enable metal ion binding activity. Predicted to be involved in myoblast differentiation. Predicted to be located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 3.2), thyroid (RPKM 2.8) and 25 other tissues See more Orthologs mouse all
PLEKHN1, Official Symbol PLEKHN1provided by HGNC Official Full Name pleckstrin homology domain containing N1provided by HGNC Primary source HGNC:HGNC:25284 See related Ensembl:ENSG00000187583 AllianceGenome:HGNC:25284 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 CLPABP Summary Enables phospholipid binding activity. Involved in 3'-UTR-mediated mRNA destabilization; positive regulation of apoptotic process; and response to hypoxia. Located in cytoskeleton and mitochondrial membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 9.8), esophagus (RPKM 3.7) and 3 other tissues See more Orthologs mouse all
PLEKHO1, Official Symbol PLEKHO1provided by HGNC Official Full Name pleckstrin homology domain containing O1provided by HGNC Primary source HGNC:HGNC:24310 See related Ensembl:ENSG00000023902 MIM:608335; AllianceGenome:HGNC:24310 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 JBP; CKIP1; OC120; CKIP-1 Summary Predicted to act upstream of or within several processes, including lamellipodium morphogenesis; myoblast fusion; and myoblast migration. Predicted to be located in cell projection membrane; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 30.7), appendix (RPKM 29.1) and 24 other tissues See more Orthologs mouse all
PLEKHO2, Official Symbol PLEKHO2provided by HGNC Official Full Name pleckstrin homology domain containing O2provided by HGNC Primary source HGNC:HGNC:30026 See related Ensembl:ENSG00000241839 AllianceGenome:HGNC:30026 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 PP1628; pp9099; PLEKHQ1 Summary Predicted to act upstream of or within macrophage apoptotic process. Predicted to be located in extracellular region and ficolin-1-rich granule lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 55.3), bone marrow (RPKM 20.9) and 23 other tissues See more Orthologs mouse all
PLEKHS1, Official Symbol PLEKHS1provided by HGNC Official Full Name pleckstrin homology domain containing S1provided by HGNC Primary source HGNC:HGNC:26285 See related Ensembl:ENSG00000148735 AllianceGenome:HGNC:26285 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 HEL185; C10orf81 Expression Biased expression in duodenum (RPKM 10.1), small intestine (RPKM 9.0) and 9 other tissues See more Orthologs mouse all
PLET1, Official Symbol PLET1provided by HGNC Official Full Name placenta expressed transcript 1provided by HGNC Primary source HGNC:HGNC:30053 See related Ensembl:ENSG00000188771 MIM:611904; AllianceGenome:HGNC:30053 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 C11orf34 Summary Predicted to be involved in negative regulation of cell-matrix adhesion; positive regulation of cell migration; and wound healing, spreading of epidermal cells. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in apical plasma membrane and external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PLG, Official Symbol PLGprovided by HGNC Official Full Name plasminogenprovided by HGNC Primary source HGNC:HGNC:9071 See related Ensembl:ENSG00000122194 MIM:173350; AllianceGenome:HGNC:9071 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 HAE4 Summary The plasminogen protein encoded by this gene is a serine protease that circulates in blood plasma as an inactive zymogen and is converted to the active protease, plasmin, by several plasminogen activators such as tissue plasminogen activator (tPA), urokinase plasminogen activator (uPA), kallikrein, and factor XII (Hageman factor). The conversion of plasminogen to plasmin involves the cleavage of the peptide bond between Arg-561 and Val-562. Plasmin cleavage also releases the angiostatin protein which inhibits angiogenesis. Plasmin degrades many blood plasma proteins, including fibrin-containing blood clots. As a serine protease, plasmin cleaves many products in addition to fibrin such as fibronectin, thrombospondin, laminin, and von Willebrand factor. Plasmin is inactivated by proteins such as alpha-2-macroglobulin and alpha-2-antiplasmin in addition to inhibitors of the various plasminogen activators. Plasminogen also interacts with plasminogen receptors which results in the retention of plasmin on cell surfaces and in plasmin-induced cell signaling. The localization of plasminogen on cell surfaces plays a role in the degradation of extracellular matrices, cell migration, inflamation, wound healing, oncogenesis, metastasis, myogenesis, muscle regeneration, neurite outgrowth, and fibrinolysis. This protein may also play a role in acute respiratory distress syndrome (ARDS) which, in part, is caused by enhanced clot formation and the suppression of fibrinolysis. Compared to other mammals, the cluster of plasminogen-like genes to which this gene belongs has been rearranged in catarrhine primates. [provided by RefSeq, May 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process. Expression Restricted expression toward liver (RPKM 588.1) See more Orthologs mouse all
PLGLB1, Official Symbol PLGLB1provided by HGNC Official Full Name plasminogen like B1provided by HGNC Primary source HGNC:HGNC:9072 See related Ensembl:ENSG00000183281 MIM:173340; AllianceGenome:HGNC:9072 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 PLGL; PRGB; PLGP1; PRP-B Summary Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 64.1) and skin (RPKM 1.9) See more
PLGLB2, Official Symbol PLGLB2provided by HGNC Official Full Name plasminogen like B2provided by HGNC Primary source HGNC:HGNC:9073 See related Ensembl:ENSG00000125551 AllianceGenome:HGNC:9073 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 PRGA; PLGLA; PLGP1; PLGP2; PLGLA1 Summary Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 70.9) and testis (RPKM 2.2) See more Orthologs all
PLGRKT, Official Symbol PLGRKTprovided by HGNC Official Full Name plasminogen receptor with a C-terminal lysineprovided by HGNC Primary source HGNC:HGNC:23633 See related Ensembl:ENSG00000107020 MIM:618444; AllianceGenome:HGNC:23633 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 AD025; MDS030; C9orf46; PLG-RKT; Plg-R(KT) Summary Predicted to be involved in positive regulation of plasminogen activation. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 12.9), duodenum (RPKM 11.8) and 24 other tissues See more Orthologs mouse all
PLIN1, Official Symbol PLIN1provided by HGNC Official Full Name perilipin 1provided by HGNC Primary source HGNC:HGNC:9076 See related Ensembl:ENSG00000166819 MIM:170290; AllianceGenome:HGNC:9076 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 PERI; PLIN; FPLD4 Summary The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009] Expression Restricted expression toward fat (RPKM 771.2) See more Orthologs mouse all
PLIN2, Official Symbol PLIN2provided by HGNC Official Full Name perilipin 2provided by HGNC Primary source HGNC:HGNC:248 See related Ensembl:ENSG00000147872 MIM:103195; AllianceGenome:HGNC:248 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 ADFP; ADRP Summary The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011] Expression Broad expression in liver (RPKM 234.7), placenta (RPKM 77.4) and 16 other tissues See more Orthologs mouse all
PLIN3, Official Symbol PLIN3provided by HGNC Official Full Name perilipin 3provided by HGNC Primary source HGNC:HGNC:16893 See related Ensembl:ENSG00000105355 MIM:602702; AllianceGenome:HGNC:16893 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 PP17; TIP47; M6PRBP1 Summary Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009] Expression Ubiquitous expression in esophagus (RPKM 42.9), small intestine (RPKM 31.3) and 24 other tissues See more Orthologs mouse all
PLIN4, Official Symbol PLIN4provided by HGNC Official Full Name perilipin 4provided by HGNC Primary source HGNC:HGNC:29393 See related Ensembl:ENSG00000167676 MIM:613247; AllianceGenome:HGNC:29393 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 MDRV; NIPA2; S3-12; MRUPAV; KIAA1881 Summary Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010] Expression Biased expression in fat (RPKM 510.0) and heart (RPKM 14.4) See more Orthologs mouse all