psui3905/ncbi_genes_summary huggingface dataset:
PEX16, Official Symbol PEX16provided by HGNC Official Full Name peroxisomal biogenesis factor 16provided by HGNC Primary source HGNC:HGNC:8857 See related Ensembl:ENSG00000121680 MIM:603360; AllianceGenome:HGNC:8857 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 PBD8A; PBD8B Summary The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 7.9), spleen (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
PEX19, Official Symbol PEX19provided by HGNC Official Full Name peroxisomal biogenesis factor 19provided by HGNC Primary source HGNC:HGNC:9713 See related Ensembl:ENSG00000162735 MIM:600279; AllianceGenome:HGNC:9713 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 PXF; HK33; PMP1; PMPI; PXMP1; PBD12A; D1S2223E Summary This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] Expression Ubiquitous expression in fat (RPKM 51.2), thyroid (RPKM 26.4) and 24 other tissues See more Orthologs mouse all
PEX2, Official Symbol PEX2provided by HGNC Official Full Name peroxisomal biogenesis factor 2provided by HGNC Primary source HGNC:HGNC:9717 See related Ensembl:ENSG00000164751 MIM:170993; AllianceGenome:HGNC:9717 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 PAF1; PMP3; ZWS3; PBD5A; PBD5B; PMP35; PXMP3; RNF72 Summary This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 10.2), urinary bladder (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
PEX26, Official Symbol PEX26provided by HGNC Official Full Name peroxisomal biogenesis factor 26provided by HGNC Primary source HGNC:HGNC:22965 See related Ensembl:ENSG00000215193 MIM:608666; AllianceGenome:HGNC:22965 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 PBD7A; PBD7B; PEX26M1T; Pex26pM1T Summary This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in colon (RPKM 17.4), small intestine (RPKM 11.2) and 25 other tissues See more Orthologs mouse all
PEX3, Official Symbol PEX3provided by HGNC Official Full Name peroxisomal biogenesis factor 3provided by HGNC Primary source HGNC:HGNC:8858 See related Ensembl:ENSG00000034693 MIM:603164; AllianceGenome:HGNC:8858 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 TRG18; PBD10A; PBD10B Summary The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in adrenal (RPKM 15.6), thyroid (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
PEX5, Official Symbol PEX5provided by HGNC Official Full Name peroxisomal biogenesis factor 5provided by HGNC Primary source HGNC:HGNC:9719 See related Ensembl:ENSG00000139197 MIM:600414; AllianceGenome:HGNC:9719 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 PXR1; PBD2A; PBD2B; PTS1R; RCDP5; PTS1-BP Summary The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in testis (RPKM 16.9), brain (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
PEX5L, Official Symbol PEX5Lprovided by HGNC Official Full Name peroxisomal biogenesis factor 5 likeprovided by HGNC Primary source HGNC:HGNC:30024 See related Ensembl:ENSG00000114757 MIM:611058; AllianceGenome:HGNC:30024 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 PXR2; PEX5R; PXR2B; PEX5RP; TRIP8b Summary Enables peroxisome matrix targeting signal-1 binding activity and small GTPase binding activity. Predicted to be involved in protein import into peroxisome matrix, docking and regulation of cAMP-mediated signaling. Predicted to act upstream of or within maintenance of protein location and regulation of membrane potential. Located in cytosol. Part of receptor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 6.5), testis (RPKM 0.6) and 1 other tissue See more Orthologs mouse all
PEX5L-AS2, Official Symbol PEX5L-AS2provided by HGNC Official Full Name PEX5L antisense RNA 2provided by HGNC Primary source HGNC:HGNC:41252 See related Ensembl:ENSG00000244302 AllianceGenome:HGNC:41252 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 Restricted expression toward testis (RPKM 6.8) See more
PEX6, Official Symbol PEX6provided by HGNC Official Full Name peroxisomal biogenesis factor 6provided by HGNC Primary source HGNC:HGNC:8859 See related Ensembl:ENSG00000124587 MIM:601498; AllianceGenome:HGNC:8859 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 PAF2; HMLR2; PAF-2; PBD4A; PDB4B; PXAAA1 Summary This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Expression Ubiquitous expression in prostate (RPKM 9.4), ovary (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
PEX7, Official Symbol PEX7provided by HGNC Official Full Name peroxisomal biogenesis factor 7provided by HGNC Primary source HGNC:HGNC:8860 See related Ensembl:ENSG00000112357 MIM:601757; AllianceGenome:HGNC:8860 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 RD; PBD9B; PTS2R; RCDP1 Summary This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in kidney (RPKM 4.4), thyroid (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
PF4, Official Symbol PF4provided by HGNC Official Full Name platelet factor 4provided by HGNC Primary source HGNC:HGNC:8861 See related Ensembl:ENSG00000163737 MIM:173460; AllianceGenome:HGNC:8861 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 PF-4; CXCL4; SCYB4 Summary This gene encodes a member of the CXC chemokine family. This chemokine is released from the alpha granules of activated platelets in the form of a homotetramer which has high affinity for heparin and is involved in platelet aggregation. This protein is chemotactic for numerous other cell type and also functions as an inhibitor of hematopoiesis, angiogenesis and T-cell function. The protein also exhibits antimicrobial activity against Plasmodium falciparum. [provided by RefSeq, Oct 2014] Expression Biased expression in bone marrow (RPKM 14.3), spleen (RPKM 2.7) and 1 other tissue See more Orthologs mouse all
PF4V1, Official Symbol PF4V1provided by HGNC Official Full Name platelet factor 4 variant 1provided by HGNC Primary source HGNC:HGNC:8862 See related Ensembl:ENSG00000109272 MIM:173461; AllianceGenome:HGNC:8862 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 PF4A; CXCL4L1; CXCL4V1; PF4-ALT; SCYB4V1 Summary The protein encoded by this gene is a chemokine that is highly similar to platelet factor 4. The encoded protein displays a strong antiangiogenic function and is regulated by chemokine (C-X-C motif) receptor 3. This protein also impairs tumor growth and can protect against blood-retinal barrier breakdown in diabetes patients. [provided by RefSeq, Nov 2015] Expression Biased expression in bone marrow (RPKM 2.7), spleen (RPKM 1.4) and 9 other tissues See more Orthologs all
PFAS, Official Symbol PFASprovided by HGNC Official Full Name phosphoribosylformylglycinamidine synthaseprovided by HGNC Primary source HGNC:HGNC:8863 See related Ensembl:ENSG00000178921 MIM:602133; AllianceGenome:HGNC:8863 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 PURL; FGAMS; GATD8; FGARAT; FGAR-AT Summary Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 4.9), appendix (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
PFDN1, Official Symbol PFDN1provided by HGNC Official Full Name prefoldin subunit 1provided by HGNC Primary source HGNC:HGNC:8866 See related Ensembl:ENSG00000113068 MIM:604897; AllianceGenome:HGNC:8866 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 PDF; PFD1 Summary This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 19.4), fat (RPKM 19.3) and 25 other tissues See more Orthologs mouse all
PFDN2, Official Symbol PFDN2provided by HGNC Official Full Name prefoldin subunit 2provided by HGNC Primary source HGNC:HGNC:8867 See related Ensembl:ENSG00000143256 MIM:613466; AllianceGenome:HGNC:8867 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 PFD2 Summary This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 33.7), brain (RPKM 30.3) and 25 other tissues See more Orthologs mouse all
PFDN4, Official Symbol PFDN4provided by HGNC Official Full Name prefoldin subunit 4provided by HGNC Primary source HGNC:HGNC:8868 See related Ensembl:ENSG00000101132 MIM:604898; AllianceGenome:HGNC:8868 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 C1; PFD4 Summary This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 7.8), endometrium (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
PFDN5, Official Symbol PFDN5provided by HGNC Official Full Name prefoldin subunit 5provided by HGNC Primary source HGNC:HGNC:8869 See related Ensembl:ENSG00000123349 MIM:604899; AllianceGenome:HGNC:8869 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 MM1; MM-1; PFD5 Summary This gene encodes a member of the prefoldin alpha subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 223.5), thyroid (RPKM 192.0) and 25 other tissues See more Orthologs mouse all
PFDN6, Official Symbol PFDN6provided by HGNC Official Full Name prefoldin subunit 6provided by HGNC Primary source HGNC:HGNC:4926 See related Ensembl:ENSG00000204220 MIM:605660; AllianceGenome:HGNC:4926 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 HKE2; KE-2; PFD6; H2-KE2 Summary PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their transfer to the cytosolic chaperonin containing TCP1 (MIM 186980) (CCT) complex (Hansen et al., 1999 [PubMed 10209023]).[supplied by OMIM, Jul 2010] Expression Ubiquitous expression in testis (RPKM 26.0), kidney (RPKM 25.3) and 25 other tissues See more Orthologs mouse all
PFKFB1, Official Symbol PFKFB1provided by HGNC Official Full Name 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1provided by HGNC Primary source HGNC:HGNC:8872 See related Ensembl:ENSG00000158571 MIM:311790; AllianceGenome:HGNC:8872 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 F6PK; HL2K; PFRX Summary This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012] Expression Biased expression in fat (RPKM 14.1) and liver (RPKM 5.1) See more Orthologs mouse all
PFKFB2, Official Symbol PFKFB2provided by HGNC Official Full Name 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2provided by HGNC Primary source HGNC:HGNC:8873 See related Ensembl:ENSG00000123836 MIM:171835; AllianceGenome:HGNC:8873 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 PFK-2/FBPase-2 Summary The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 25.6), duodenum (RPKM 11.7) and 19 other tissues See more Orthologs mouse all
PFKFB3, Official Symbol PFKFB3provided by HGNC Official Full Name 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3provided by HGNC Primary source HGNC:HGNC:8874 See related Ensembl:ENSG00000170525 MIM:605319; AllianceGenome:HGNC:8874 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 PFK2; IPFK2; iPFK-2 Summary The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016] Expression Biased expression in fat (RPKM 188.2), bone marrow (RPKM 67.0) and 9 other tissues See more Orthologs mouse all
PFKFB4, Official Symbol PFKFB4provided by HGNC Official Full Name 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4provided by HGNC Primary source HGNC:HGNC:8875 See related Ensembl:ENSG00000114268 MIM:605320; AllianceGenome:HGNC:8875 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 is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015] Expression Broad expression in testis (RPKM 10.5), small intestine (RPKM 8.0) and 18 other tissues See more Orthologs mouse all
PFKL, Official Symbol PFKLprovided by HGNC Official Full Name phosphofructokinase, liver typeprovided by HGNC Primary source HGNC:HGNC:8876 See related Ensembl:ENSG00000141959 MIM:171860; AllianceGenome:HGNC:8876 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 PFK-B; PFK-L; ATP-PFK Summary This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in kidney (RPKM 49.4), duodenum (RPKM 37.4) and 25 other tissues See more Orthologs mouse all
PFKM, Official Symbol PFKMprovided by HGNC Official Full Name phosphofructokinase, muscleprovided by HGNC Primary source HGNC:HGNC:8877 See related Ensembl:ENSG00000152556 MIM:610681; AllianceGenome:HGNC:8877 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 GSD7; PFK1; PFKA; PFKX; PFK-1; PFK-A; ATP-PFK; PPP1R122 Summary Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] Expression Broad expression in heart (RPKM 77.2), brain (RPKM 32.0) and 21 other tissues See more Orthologs mouse all
PFKP, Official Symbol PFKPprovided by HGNC Official Full Name phosphofructokinase, plateletprovided by HGNC Primary source HGNC:HGNC:8878 See related Ensembl:ENSG00000067057 MIM:171840; AllianceGenome:HGNC:8878 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 PFKF; PFK-C; PFK-P; ATP-PFK Summary This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Expression Broad expression in testis (RPKM 49.8), brain (RPKM 37.5) and 23 other tissues See more Orthologs mouse all
PFN1, Official Symbol PFN1provided by HGNC Official Full Name profilin 1provided by HGNC Primary source HGNC:HGNC:8881 See related Ensembl:ENSG00000108518 MIM:176610; AllianceGenome:HGNC:8881 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 ALS18 Summary This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in appendix (RPKM 221.4), lymph node (RPKM 209.6) and 24 other tissues See more Orthologs mouse all
PFN1P2, Official Symbol PFN1P2provided by HGNC Official Full Name profilin 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:24298 See related Ensembl:ENSG00000270392 MIM:608609; AllianceGenome:HGNC:24298 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 COAS3; C1orf152
PFN1P4, Official Symbol PFN1P4provided by HGNC Official Full Name profilin 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:42992 See related AllianceGenome:HGNC:42992 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 PFN1P5
PFN1P8, Official Symbol PFN1P8provided by HGNC Official Full Name profilin 1 pseudogene 8provided by HGNC Primary source HGNC:HGNC:42986 See related AllianceGenome:HGNC:42986 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PFN2, Official Symbol PFN2provided by HGNC Official Full Name profilin 2provided by HGNC Primary source HGNC:HGNC:8882 See related Ensembl:ENSG00000070087 MIM:176590; AllianceGenome:HGNC:8882 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 PFL; D3S1319E Summary The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 148.4), thyroid (RPKM 50.8) and 19 other tissues See more Orthologs mouse all
PFN3, Official Symbol PFN3provided by HGNC Official Full Name profilin 3provided by HGNC Primary source HGNC:HGNC:18627 See related Ensembl:ENSG00000196570 MIM:612812; AllianceGenome:HGNC:18627 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 profilin-3 Summary The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008] Orthologs mouse all
PFN4, Official Symbol PFN4provided by HGNC Official Full Name profilin family member 4provided by HGNC Primary source HGNC:HGNC:31103 See related Ensembl:ENSG00000176732 MIM:620046; AllianceGenome:HGNC:31103 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 enable actin monomer binding activity. Predicted to be involved in sequestering of actin monomers. Predicted to be located in cytoskeleton. Predicted to be active in cell cortex. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 24.5) See more Orthologs mouse all
PFN5P, Official Symbol PFN5Pprovided by HGNC Official Full Name profilin 5, pseudogeneprovided by HGNC Primary source HGNC:HGNC:53808 See related Ensembl:ENSG00000283349 AllianceGenome:HGNC:53808 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGA3, Official Symbol PGA3provided by HGNC Official Full Name pepsinogen A3provided by HGNC Primary source HGNC:HGNC:8885 See related Ensembl:ENSG00000229859 MIM:169710; AllianceGenome:HGNC:8885 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 encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015] Expression Restricted expression toward stomach (RPKM 21519.3) See more Orthologs all
PGA4, Official Symbol PGA4provided by HGNC Official Full Name pepsinogen A4provided by HGNC Primary source HGNC:HGNC:8886 See related Ensembl:ENSG00000229183 MIM:169720; AllianceGenome:HGNC:8886 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 encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015] Expression Restricted expression toward stomach (RPKM 23688.7) See more Orthologs all
PGA5, Official Symbol PGA5provided by HGNC Official Full Name pepsinogen A5provided by HGNC Primary source HGNC:HGNC:8887 See related Ensembl:ENSG00000256713 MIM:169730; AllianceGenome:HGNC:8887 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 Pg5 Summary This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015] Expression Restricted expression toward stomach (RPKM 16682.6) See more Orthologs all
PGAM1, Official Symbol PGAM1provided by HGNC Official Full Name phosphoglycerate mutase 1provided by HGNC Primary source HGNC:HGNC:8888 See related Ensembl:ENSG00000171314 MIM:172250; AllianceGenome:HGNC:8888 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 PGAMA; PGAM-B; HEL-S-35 Summary The protein encoded by this gene is a mutase that catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in esophagus (RPKM 137.6), brain (RPKM 137.2) and 25 other tissues See more Orthologs mouse all
PGAM1P1, Official Symbol PGAM1P1provided by HGNC Official Full Name phosphoglycerate mutase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:42448 See related Ensembl:ENSG00000248271 AllianceGenome:HGNC:42448 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGAM1P11, Official Symbol PGAM1P11provided by HGNC Official Full Name phosphoglycerate mutase 1 pseudogene 11provided by HGNC Primary source HGNC:HGNC:42464 See related Ensembl:ENSG00000233623 AllianceGenome:HGNC:42464 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGAM1P13, Official Symbol PGAM1P13provided by HGNC Official Full Name phosphoglycerate mutase 1 pseudogene 13provided by HGNC Primary source HGNC:HGNC:42461 See related Ensembl:ENSG00000248838 AllianceGenome:HGNC:42461 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGAM1P3, Official Symbol PGAM1P3provided by HGNC Official Full Name phosphoglycerate mutase 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:42450 See related Ensembl:ENSG00000230274 AllianceGenome:HGNC:42450 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGAM1P5, Official Symbol PGAM1P5provided by HGNC Official Full Name phosphoglycerate mutase 1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:42452 See related Ensembl:ENSG00000257150 AllianceGenome:HGNC:42452 Gene type pseudo 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
PGAM1P6, Official Symbol PGAM1P6provided by HGNC Official Full Name phosphoglycerate mutase 1 pseudogene 6provided by HGNC Primary source HGNC:HGNC:42453 See related Ensembl:ENSG00000224464 AllianceGenome:HGNC:42453 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGAM2, Official Symbol PGAM2provided by HGNC Official Full Name phosphoglycerate mutase 2provided by HGNC Primary source HGNC:HGNC:8889 See related Ensembl:ENSG00000164708 MIM:612931; AllianceGenome:HGNC:8889 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 GSD10; PGAMM; PGAM-M Summary Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009] Expression Biased expression in heart (RPKM 250.4), testis (RPKM 58.7) and 2 other tissues See more Orthologs mouse all
PGAM3P, Official Symbol PGAM3Pprovided by HGNC Official Full Name phosphoglycerate mutase 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:16557 See related Ensembl:ENSG00000237256 AllianceGenome:HGNC:16557 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 dJ1128N12.1
PGAM4, Official Symbol PGAM4provided by HGNC Official Full Name phosphoglycerate mutase family member 4provided by HGNC Primary source HGNC:HGNC:21731 See related Ensembl:ENSG00000226784 MIM:300567; AllianceGenome:HGNC:21731 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 PGAM1; PGAM3; PGAM-B; dJ1000K24.1 Summary This intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase family, a set of enzymes that catalyze the transfer of a phosphate group from 3-phosphoglycerate to 2-phosphoglycerate. [provided by RefSeq, May 2010] Orthologs all
PGAM4P1, Official Symbol PGAM4P1provided by HGNC Official Full Name phosphoglycerate mutase family member 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:42465 See related AllianceGenome:HGNC:42465 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGAM4P2, Official Symbol PGAM4P2provided by HGNC Official Full Name phosphoglycerate mutase family member 4 pseudogene 2provided by HGNC Primary source HGNC:HGNC:42466 See related Ensembl:ENSG00000248488 AllianceGenome:HGNC:42466 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGAM5, Official Symbol PGAM5provided by HGNC Official Full Name PGAM family member 5, mitochondrial serine/threonine protein phosphataseprovided by HGNC Primary source HGNC:HGNC:28763 See related Ensembl:ENSG00000247077 MIM:614939; AllianceGenome:HGNC:28763 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 BXLBV68 Summary Enables GTPase activator activity and protein serine/threonine phosphatase activity. Involved in necroptotic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 6.8), testis (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
PGAP1, Official Symbol PGAP1provided by HGNC Official Full Name post-GPI attachment to proteins inositol deacylase 1provided by HGNC Primary source HGNC:HGNC:25712 See related Ensembl:ENSG00000197121 MIM:611655; AllianceGenome:HGNC:25712 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 Bst1; MRT42; SPG67; NEDDSBA; ISPD3024 Summary The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in adrenal (RPKM 6.0), brain (RPKM 5.4) and 24 other tissues See more Orthologs mouse all
PGAP2, Official Symbol PGAP2provided by HGNC Official Full Name post-GPI attachment to proteins 2provided by HGNC Primary source HGNC:HGNC:17893 See related Ensembl:ENSG00000148985 MIM:615187; AllianceGenome:HGNC:17893 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 FRAG1; MRT17; MRT21; HPMRS3; CWH43-N Summary The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in skin (RPKM 10.4), testis (RPKM 5.4) and 25 other tissues See more Orthologs mouse all