psui3905/ncbi_genes_summary huggingface dataset:
PUS10, Official Symbol PUS10provided by HGNC Official Full Name pseudouridine synthase 10provided by HGNC Primary source HGNC:HGNC:26505 See related Ensembl:ENSG00000162927 MIM:612787; AllianceGenome:HGNC:26505 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 DOBI; Hup10; CCDC139 Summary Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009] Expression Ubiquitous expression in small intestine (RPKM 2.6), lymph node (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
PUS3, Official Symbol PUS3provided by HGNC Official Full Name pseudouridine synthase 3provided by HGNC Primary source HGNC:HGNC:25461 See related Ensembl:ENSG00000110060 MIM:616283; AllianceGenome:HGNC:25461 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 DEG1; MRT55; FKSG32; NEDMIGS; 2610020J05Rik Summary The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in liver (RPKM 5.1), appendix (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
PUS7, Official Symbol PUS7provided by HGNC Official Full Name pseudouridine synthase 7provided by HGNC Primary source HGNC:HGNC:26033 See related Ensembl:ENSG00000091127 MIM:616261; AllianceGenome:HGNC:26033 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 IDDABS Summary Enables enzyme binding activity and pseudouridine synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 5.5), skin (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
PUS7L, Official Symbol PUS7Lprovided by HGNC Official Full Name pseudouridine synthase 7 likeprovided by HGNC Primary source HGNC:HGNC:25276 See related Ensembl:ENSG00000129317 AllianceGenome:HGNC:25276 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 pseudouridine synthase activity. Predicted to be involved in pseudouridine synthesis. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 3.3), appendix (RPKM 2.8) and 25 other tissues See more Orthologs mouse all
PUSL1, Official Symbol PUSL1provided by HGNC Official Full Name pseudouridine synthase like 1provided by HGNC Primary source HGNC:HGNC:26914 See related Ensembl:ENSG00000169972 AllianceGenome:HGNC:26914 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 pseudouridine synthase activity. Predicted to be involved in tRNA pseudouridine synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 3.5), testis (RPKM 3.1) and 25 other tissues See more Orthologs mouse all
PVALB, Official Symbol PVALBprovided by HGNC Official Full Name parvalbuminprovided by HGNC Primary source HGNC:HGNC:9704 See related Ensembl:ENSG00000100362 MIM:168890; AllianceGenome:HGNC:9704 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 D22S749 Summary The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Expression Biased expression in kidney (RPKM 20.1) and brain (RPKM 2.2) See more Orthologs mouse all
PVALEF, Official Symbol PVALEFprovided by HGNC Official Full Name parvalbumin like EF-hand containingprovided by HGNC Primary source HGNC:HGNC:40053 See related Ensembl:ENSG00000225180 AllianceGenome:HGNC:40053 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 AATK-AS1 Summary Predicted to enable actin filament binding activity; calcium ion binding activity; and calcium-dependent protein binding activity. Predicted to be involved in regulation of muscle contraction and skeletal muscle contraction. Predicted to be part of troponin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
PVR, Official Symbol PVRprovided by HGNC Official Full Name PVR cell adhesion moleculeprovided by HGNC Primary source HGNC:HGNC:9705 See related Ensembl:ENSG00000073008 MIM:173850; AllianceGenome:HGNC:9705 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 PVS; HVED; CD155; NECL5; TAGE4; Necl-5 Summary The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in adrenal (RPKM 7.2), placenta (RPKM 6.6) and 25 other tissues See more Orthologs all
PVRIG, Official Symbol PVRIGprovided by HGNC Official Full Name PVR related immunoglobulin domain containingprovided by HGNC Primary source HGNC:HGNC:32190 See related Ensembl:ENSG00000213413 MIM:617012; AllianceGenome:HGNC:32190 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 CD112R; C7orf15 Summary Enables phosphatase binding activity and signaling receptor activity. Involved in negative regulation of T cell receptor signaling pathway. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 13.9), spleen (RPKM 12.7) and 25 other tissues See more Orthologs mouse all
PVRIG2P, Official Symbol PVRIG2Pprovided by HGNC Official Full Name PVR related immunoglobulin domain containing 2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:48897 See related AllianceGenome:HGNC:48897 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in testis (RPKM 39.7), spleen (RPKM 30.8) and 25 other tissues See more
PVT1, Official Symbol PVT1provided by HGNC Official Full Name Pvt1 oncogeneprovided by HGNC Primary source HGNC:HGNC:9709 See related Ensembl:ENSG00000249859 MIM:165140; AllianceGenome:HGNC:9709 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TP53LC09; LINC00079; MIR1204HG; NCRNA00079; onco-lncRNA-100 Summary This gene represents a long non-coding RNA locus that has been identified as a candidate oncogene. Increased copy number and overexpression of this gene are associated with many types of cancers including breast and ovarian cancers, acute myeloid leukemia and Hodgkin lymphoma. Allelic variants of this gene are also associated with end-stage renal disease attributed to type 1 diabetes. Consistent with its association with various types of cancer, transcription of this gene is regulated by the tumor suppressor p53 through a canonical p53-binding site, and it has been implicated in regulating levels of the proto-oncogene MYC to promote tumorigenesis. [provided by RefSeq, Sep 2015] Expression Broad expression in ovary (RPKM 3.9), bone marrow (RPKM 3.4) and 21 other tissues See more Orthologs mouse all
PWAR1, Official Symbol PWAR1provided by HGNC Official Full Name Prader Willi/Angelman region RNA 1provided by HGNC Primary source HGNC:HGNC:30089 See related Ensembl:ENSG00000279050 MIM:600161; AllianceGenome:HGNC:30089 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PAR1; PAR-1; D15S227E
PWAR5, Official Symbol PWAR5provided by HGNC Official Full Name Prader Willi/Angelman region RNA 5provided by HGNC Primary source HGNC:HGNC:30090 See related Ensembl:ENSG00000279192 MIM:600162; AllianceGenome:HGNC:30090 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PAR5; PAR-5; D15S226E
PWP1, Official Symbol PWP1provided by HGNC Official Full Name PWP1 homolog, endonucleinprovided by HGNC Primary source HGNC:HGNC:17015 See related Ensembl:ENSG00000136045 MIM:620055; AllianceGenome:HGNC:17015 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 NCLB; IEF-SSP-9502 Summary The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in testis (RPKM 14.1), brain (RPKM 13.4) and 25 other tissues See more Orthologs mouse all
PWP2, Official Symbol PWP2provided by HGNC Official Full Name PWP2 small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:9711 See related Ensembl:ENSG00000241945 MIM:601475; AllianceGenome:HGNC:9711 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 UTP1; PWP2H; EHOC-17 Summary Enables RNA binding activity. Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and ribosomal small subunit assembly. Predicted to be located in nucleoplasm. Predicted to be part of Pwp2p-containing subcomplex of 90S preribosome and small-subunit processome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 6.5), spleen (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
PWRN1, Official Symbol PWRN1provided by HGNC Official Full Name Prader-Willi region non-protein coding RNA 1provided by HGNC Primary source HGNC:HGNC:33235 See related Ensembl:ENSG00000259905 MIM:611215; AllianceGenome:HGNC:33235 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LOHAN1; NCRNA00198 Summary This gene is located in the Prader-Willi syndrome (PWS) region of chromosome 15, which is known to undergo imprinting. The transcript is believed to be non-coding. It is bi-allelically expressed in testis and kidney, but mono-allelically expressed from the paternal allele in brain. This gene is poly-adenylated and is known to undergo alternative splicing. Transcript variants may represent part of a complex imprinting center-SNURF-SNRPN transcription unit. The contribution of this gene to the PWS phenotype is unknown, but it has been suggested that it may play a role in establishing paternal imprinting in the PWS region, perhaps by maintaining the paternal allele in an open chromatin configuration. [provided by RefSeq, Sep 2009] Expression Restricted expression toward testis (RPKM 11.5) See more
PWRN2, Official Symbol PWRN2provided by HGNC Official Full Name Prader-Willi region non-protein coding RNA 2provided by HGNC Primary source HGNC:HGNC:33236 See related Ensembl:ENSG00000260551 MIM:611217; AllianceGenome:HGNC:33236 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NCRNA00199
PWWP2A, Official Symbol PWWP2Aprovided by HGNC Official Full Name PWWP domain containing 2Aprovided by HGNC Primary source HGNC:HGNC:29406 See related Ensembl:ENSG00000170234 MIM:617823; AllianceGenome:HGNC:29406 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 MST101 Summary Enables chromatin binding activity and histone binding activity. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 1.9), skin (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
PWWP2AP1, Official Symbol PWWP2AP1provided by HGNC Official Full Name PWWP domain containing 2A pseudogene 1provided by HGNC Primary source HGNC:HGNC:39709 See related AllianceGenome:HGNC:39709 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PWWP2B, Official Symbol PWWP2Bprovided by HGNC Official Full Name PWWP domain containing 2Bprovided by HGNC Primary source HGNC:HGNC:25150 See related Ensembl:ENSG00000171813 AllianceGenome:HGNC:25150 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 PWWP2; pp8607; bA432J24.1 Summary Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 6.8), colon (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
PWWP3A, Official Symbol PWWP3Aprovided by HGNC Official Full Name PWWP domain containing 3A, DNA repair factorprovided by HGNC Primary source HGNC:HGNC:29641 See related Ensembl:ENSG00000160953 AllianceGenome:HGNC:29641 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 MUM1; MUM-1; EXPAND1; HSPC211 Summary Enables nucleosome binding activity. Involved in DNA repair and chromatin organization. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 16.2), brain (RPKM 11.8) and 24 other tissues See more Orthologs mouse all
PWWP3B, Official Symbol PWWP3Bprovided by HGNC Official Full Name PWWP domain containing 3Bprovided by HGNC Primary source HGNC:HGNC:26583 See related Ensembl:ENSG00000157502 AllianceGenome:HGNC:26583 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 MUM1L1 Summary This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] Expression Biased expression in ovary (RPKM 87.9), testis (RPKM 13.7) and 2 other tissues See more Orthologs mouse all
PWWP4, Official Symbol PWWP4provided by HGNC Official Full Name PWWP domain containing 4provided by HGNC Primary source HGNC:HGNC:55197 See related Ensembl:ENSG00000278803 AllianceGenome:HGNC:55197 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 Orthologs all
PXDC1, Official Symbol PXDC1provided by HGNC Official Full Name PX domain containing 1provided by HGNC Primary source HGNC:HGNC:21361 See related Ensembl:ENSG00000168994 AllianceGenome:HGNC:21361 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 C6orf145 Summary Predicted to enable phosphatidylinositol binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 40.1), placenta (RPKM 24.5) and 24 other tissues See more Orthologs mouse all
PXDN, Official Symbol PXDNprovided by HGNC Official Full Name peroxidasinprovided by HGNC Primary source HGNC:HGNC:14966 See related Ensembl:ENSG00000130508 MIM:605158; AllianceGenome:HGNC:14966 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 PXN; VPO; MG50; PRG2; ASGD7; COPOA; D2S448; D2S448E; hsPxd01 Summary This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 2014] Expression Broad expression in fat (RPKM 35.5), endometrium (RPKM 27.3) and 21 other tissues See more Orthologs mouse all
PXDNL, Official Symbol PXDNLprovided by HGNC Official Full Name peroxidasin likeprovided by HGNC Primary source HGNC:HGNC:26359 See related Ensembl:ENSG00000147485 MIM:615904; AllianceGenome:HGNC:26359 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 PMR1; PRM1; VPO2 Summary Predicted to enable heme binding activity and peroxidase activity. Predicted to be involved in hydrogen peroxide catabolic process. Predicted to be located in cytoplasm. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 10.6), testis (RPKM 1.5) and 1 other tissue See more Orthologs all
PXK, Official Symbol PXKprovided by HGNC Official Full Name PX domain containing serine/threonine kinase likeprovided by HGNC Primary source HGNC:HGNC:23326 See related Ensembl:ENSG00000168297 MIM:611450; AllianceGenome:HGNC:23326 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 SLOB; MONAKA Summary This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Broad expression in thyroid (RPKM 17.1), brain (RPKM 11.4) and 24 other tissues See more Orthologs mouse all
PXMP2, Official Symbol PXMP2provided by HGNC Official Full Name peroxisomal membrane protein 2provided by HGNC Primary source HGNC:HGNC:9716 See related Ensembl:ENSG00000176894 MIM:617399; AllianceGenome:HGNC:9716 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 PMP22; MPV17L3 Summary Located in peroxisomal membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in liver (RPKM 47.9), kidney (RPKM 25.6) and 25 other tissues See more Orthologs mouse all
PXMP4, Official Symbol PXMP4provided by HGNC Official Full Name peroxisomal membrane protein 4provided by HGNC Primary source HGNC:HGNC:15920 See related Ensembl:ENSG00000101417 MIM:616397; AllianceGenome:HGNC:15920 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 PMP24 Summary Located in peroxisomal membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 6.4), thyroid (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
PXN, Official Symbol PXNprovided by HGNC Official Full Name paxillinprovided by HGNC Primary source HGNC:HGNC:9718 See related Ensembl:ENSG00000089159 MIM:602505; AllianceGenome:HGNC:9718 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 cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in placenta (RPKM 24.8), fat (RPKM 20.4) and 25 other tissues See more Orthologs mouse all
PXN-AS1, Official Symbol PXN-AS1provided by HGNC Official Full Name PXN antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44123 See related Ensembl:ENSG00000255857 AllianceGenome:HGNC:44123 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EyeLinc4 Expression Ubiquitous expression in endometrium (RPKM 37.1), placenta (RPKM 12.2) and 25 other tissues See more
PXT1, Official Symbol PXT1provided by HGNC Official Full Name peroxisomal testis enriched protein 1provided by HGNC Primary source HGNC:HGNC:18312 See related Ensembl:ENSG00000179165 AllianceGenome:HGNC:18312 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 STEPP Summary Predicted to be involved in positive regulation of apoptotic process. Predicted to act upstream of or within spermatogenesis. Predicted to be active in nucleus and peroxisome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.3), bone marrow (RPKM 0.1) and 1 other tissue See more Orthologs mouse all
PXYLP1, Official Symbol PXYLP1provided by HGNC Official Full Name 2-phosphoxylose phosphatase 1provided by HGNC Primary source HGNC:HGNC:26303 See related Ensembl:ENSG00000155893 MIM:619732; AllianceGenome:HGNC:26303 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 XYLP; ACPL2; HEL124 Summary Enables phosphatase activity. Involved in chondroitin sulfate proteoglycan biosynthetic process; glycosaminoglycan biosynthetic process; and positive regulation of heparan sulfate proteoglycan biosynthetic process. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 6.1), placenta (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
PYCARD, Official Symbol PYCARDprovided by HGNC Official Full Name PYD and CARD domain containingprovided by HGNC Primary source HGNC:HGNC:16608 See related Ensembl:ENSG00000103490 MIM:606838; AllianceGenome:HGNC:16608 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 ASC; TMS; TMS1; CARD5; TMS-1 Summary This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 25.5), colon (RPKM 25.4) and 22 other tissues See more Orthologs all
PYCARD-AS1, Official Symbol PYCARD-AS1provided by HGNC Official Full Name PYCARD antisense RNA 1provided by HGNC Primary source HGNC:HGNC:45036 See related Ensembl:ENSG00000261359 AllianceGenome:HGNC:45036 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C16orf98; PYCARDOS Expression Broad expression in colon (RPKM 8.4), spleen (RPKM 6.8) and 18 other tissues See more
PYCR1, Official Symbol PYCR1provided by HGNC Official Full Name pyrroline-5-carboxylate reductase 1provided by HGNC Primary source HGNC:HGNC:9721 See related Ensembl:ENSG00000183010 MIM:179035; AllianceGenome:HGNC:9721 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 P5C; P5CR; PRO3; PYCR; PIG45; PP222; ARCL2B; ARCL3B Summary This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Broad expression in salivary gland (RPKM 19.9), stomach (RPKM 16.0) and 19 other tissues See more Orthologs mouse all
PYCR2, Official Symbol PYCR2provided by HGNC Official Full Name pyrroline-5-carboxylate reductase 2provided by HGNC Primary source HGNC:HGNC:30262 See related Ensembl:ENSG00000143811 MIM:616406; AllianceGenome:HGNC:30262 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 HLD10; P5CR2 Summary This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in adrenal (RPKM 27.1), spleen (RPKM 24.2) and 25 other tissues See more Orthologs mouse all
PYCR3, Official Symbol PYCR3provided by HGNC Official Full Name pyrroline-5-carboxylate reductase 3provided by HGNC Primary source HGNC:HGNC:25846 See related Ensembl:ENSG00000104524 MIM:616408; AllianceGenome:HGNC:25846 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 PYCRL Summary This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016] Expression Ubiquitous expression in kidney (RPKM 2.8), thyroid (RPKM 2.6) and 25 other tissues See more Orthologs mouse all
PYDC1, Official Symbol PYDC1provided by HGNC Official Full Name pyrin domain containing 1provided by HGNC Primary source HGNC:HGNC:30261 See related Ensembl:ENSG00000169900 MIM:615700; AllianceGenome:HGNC:30261 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 ASC2; POP1; PYC1; cPOP1 Summary Predicted to enable cysteine-type endopeptidase activity. Involved in several processes, including negative regulation of tumor necrosis factor-mediated signaling pathway; regulation of gene expression; and tumor necrosis factor-mediated signaling pathway. Located in cytosol and nucleus. Part of IkappaB kinase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 1.7), brain (RPKM 0.2) and 1 other tissue See more Orthologs all
PYDC2, Official Symbol PYDC2provided by HGNC Official Full Name pyrin domain containing 2provided by HGNC Primary source HGNC:HGNC:33512 See related Ensembl:ENSG00000253548 MIM:615701; AllianceGenome:HGNC:33512 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 POP2; cPOP2 Summary Involved in several processes, including negative regulation of NLRP3 inflammasome complex assembly; negative regulation of signal transduction; and regulation of gene expression. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
PYGB, Official Symbol PYGBprovided by HGNC Official Full Name glycogen phosphorylase Bprovided by HGNC Primary source HGNC:HGNC:9723 See related Ensembl:ENSG00000100994 MIM:138550; AllianceGenome:HGNC:9723 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 GPBB Summary The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 67.8), heart (RPKM 66.8) and 23 other tissues See more Orthologs mouse all
PYGL, Official Symbol PYGLprovided by HGNC Official Full Name glycogen phosphorylase Lprovided by HGNC Primary source HGNC:HGNC:9725 See related Ensembl:ENSG00000100504 MIM:613741; AllianceGenome:HGNC:9725 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 GSD6 Summary This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011] Expression Broad expression in fat (RPKM 75.5), bone marrow (RPKM 44.9) and 16 other tissues See more Orthologs mouse all
PYGM, Official Symbol PYGMprovided by HGNC Official Full Name glycogen phosphorylase, muscle associatedprovided by HGNC Primary source HGNC:HGNC:9726 See related Ensembl:ENSG00000068976 MIM:608455; AllianceGenome:HGNC:9726 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 GSD5 Summary This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] Expression Biased expression in esophagus (RPKM 41.2), prostate (RPKM 24.2) and 6 other tissues See more Orthologs mouse all
PYGO1, Official Symbol PYGO1provided by HGNC Official Full Name pygopus family PHD finger 1provided by HGNC Primary source HGNC:HGNC:30256 See related Ensembl:ENSG00000171016 MIM:606902; AllianceGenome:HGNC:30256 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 methylated histone binding activity. Predicted to be involved in kidney development and spermatid nucleus differentiation. Predicted to act upstream of or within several processes, including hematopoietic progenitor cell differentiation; protein localization to nucleus; and spermatid development. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 4.1), endometrium (RPKM 3.0) and 20 other tissues See more Orthologs mouse all
PYGO2, Official Symbol PYGO2provided by HGNC Official Full Name pygopus family PHD finger 2provided by HGNC Primary source HGNC:HGNC:30257 See related Ensembl:ENSG00000163348 MIM:606903; AllianceGenome:HGNC:30257 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 1190004M21Rik Summary Predicted to enable several functions, including chromatin binding activity; histone acetyltransferase regulator activity; and histone binding activity. Predicted to be involved in kidney development and spermatid nucleus differentiation. Predicted to act upstream of or within several processes, including animal organ development; positive regulation of chromatin binding activity; and regulation of histone H3-K4 methylation. Part of beta-catenin-TCF complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 16.3), ovary (RPKM 15.1) and 25 other tissues See more Orthologs mouse all
PYHIN1, Official Symbol PYHIN1provided by HGNC Official Full Name pyrin and HIN domain family member 1provided by HGNC Primary source HGNC:HGNC:28894 See related Ensembl:ENSG00000163564 MIM:612677; AllianceGenome:HGNC:28894 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 IFIX Summary The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Expression Broad expression in lymph node (RPKM 3.0), spleen (RPKM 2.1) and 19 other tissues See more Orthologs all
PYM1, Official Symbol PYM1provided by HGNC Official Full Name PYM homolog 1, exon junction complex associated factorprovided by HGNC Primary source HGNC:HGNC:30258 See related Ensembl:ENSG00000170473 MIM:619753; AllianceGenome:HGNC:30258 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 PYM; WIBG Summary Enables ribosome binding activity. Involved in exon-exon junction complex disassembly; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; and positive regulation of translation. Located in cell junction; cytosol; and nuclear lumen. Part of exon-exon junction complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 16.0), colon (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
PYROXD1, Official Symbol PYROXD1provided by HGNC Official Full Name pyridine nucleotide-disulphide oxidoreductase domain 1provided by HGNC Primary source HGNC:HGNC:26162 See related Ensembl:ENSG00000121350 MIM:617220; AllianceGenome:HGNC:26162 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 MFM8 Summary This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in thyroid (RPKM 12.4), lymph node (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
PYROXD2, Official Symbol PYROXD2provided by HGNC Official Full Name pyridine nucleotide-disulphide oxidoreductase domain 2provided by HGNC Primary source HGNC:HGNC:23517 See related Ensembl:ENSG00000119943 MIM:617889; AllianceGenome:HGNC:23517 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 YUEF; FP3420; C10orf33 Summary Predicted to enable oxidoreductase activity. Involved in mitochondrion organization. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 2.4), ovary (RPKM 1.9) and 25 other tissues See more Orthologs mouse all
PYURF, Official Symbol PYURFprovided by HGNC Official Full Name PIGY upstream open reading frameprovided by HGNC Primary source HGNC:HGNC:44317 See related Ensembl:ENSG00000145337 MIM:619956; AllianceGenome:HGNC:44317 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 PREY; NDUFAFQ Summary The product of this gene, which is well-conserved, is encoded by the same bicistronic transcript that encodes phosphatidylinositol glycan anchor biosynthesis, class Y, but the two proteins are unrelated. This gene represents the protein encoded by the upstream open reading frame, while the protein encoded by the downstream open reading frame is represented by GeneID:84992. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in adrenal (RPKM 45.6), fat (RPKM 42.6) and 25 other tissues See more Orthologs mouse all
PYY, Official Symbol PYYprovided by HGNC Official Full Name peptide YYprovided by HGNC Primary source HGNC:HGNC:9748 See related Ensembl:ENSG00000131096 MIM:600781; AllianceGenome:HGNC:9748 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 PYY1; PYY-I Summary This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded preproprotein is proteolytically processed to generate two alternative peptide products that differ in length by three amino acids. These peptides, secreted by endocrine cells in the gut, exhibit different binding affinities for each of the neuropeptide Y receptors. Binding of the encoded peptides to these receptors mediates regulation of pancreatic secretion, gut mobility and energy homeostasis. Rare variations in this gene could increase susceptibility to obesity and elevated serum levels of the encoded peptides may be associated with anorexia nervosa. [provided by RefSeq, Feb 2016] Expression Biased expression in colon (RPKM 24.9) and small intestine (RPKM 4.4) See more Orthologs mouse all
PYY2, Official Symbol PYY2provided by HGNC Official Full Name peptide YY 2 (pseudogene)provided by HGNC Primary source HGNC:HGNC:9749 See related Ensembl:ENSG00000290671 MIM:606637; AllianceGenome:HGNC:9749 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in adrenal (RPKM 3.8), testis (RPKM 1.2) and 3 other tissues See more
PZP, Official Symbol PZPprovided by HGNC Official Full Name PZP alpha-2-macroglobulin likeprovided by HGNC Primary source HGNC:HGNC:9750 See related Ensembl:ENSG00000126838 MIM:176420; AllianceGenome:HGNC:9750 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 CPAMD6 Summary The protein encoded by this gene is highly expressed in late-pregnancy serum and is similar in structure to alpha-2-macroglobulin. The encoded protein, which acts as a homotetramer, inhibits the activity of all four classes of proteinases. This protein contains cleavage sites for several proteinases. Upon binding of a proteinase, the conformation of this protein changes to trap the proteinase, limiting its activity. This protein appears to be elevated in the sera of presymptomatic Alzheimer's disease patients. [provided by RefSeq, Dec 2016] Expression Biased expression in liver (RPKM 5.3), endometrium (RPKM 1.0) and 2 other tissues See more Orthologs all