psui3905/ncbi_genes_summary huggingface dataset:
PDZD9, Official Symbol PDZD9provided by HGNC Official Full Name PDZ domain containing 9provided by HGNC Primary source HGNC:HGNC:28740 See related Ensembl:ENSG00000155714 AllianceGenome:HGNC:28740 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 C16orf65 Expression Broad expression in testis (RPKM 11.6), heart (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
PDZK1, Official Symbol PDZK1provided by HGNC Official Full Name PDZ domain containing 1provided by HGNC Primary source HGNC:HGNC:8821 See related Ensembl:ENSG00000174827 MIM:603831; AllianceGenome:HGNC:8821 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 CAP70; CLAMP; PDZD1; NHERF3; NHERF-3 Summary This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] Expression Biased expression in kidney (RPKM 203.4), small intestine (RPKM 48.1) and 3 other tissues See more Orthologs mouse all
PDZK1IP1, Official Symbol PDZK1IP1provided by HGNC Official Full Name PDZK1 interacting protein 1provided by HGNC Primary source HGNC:HGNC:16887 See related Ensembl:ENSG00000162366 MIM:607178; AllianceGenome:HGNC:16887 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 DD96; SPAP; MAP17 Summary Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 568.2), gall bladder (RPKM 87.6) and 3 other tissues See more Orthologs mouse all
PDZPH1P, Official Symbol PDZPH1Pprovided by HGNC Official Full Name PDZ and pleckstrin homology domains 1, pseudogeneprovided by HGNC Primary source HGNC:HGNC:51488 See related Ensembl:ENSG00000226926 AllianceGenome:HGNC:51488 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Orthologs all
PDZRN3, Official Symbol PDZRN3provided by HGNC Official Full Name PDZ domain containing ring finger 3provided by HGNC Primary source HGNC:HGNC:17704 See related Ensembl:ENSG00000121440 MIM:609729; AllianceGenome:HGNC:17704 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 LNX3; SEMCAP3; SEMACAP3 Summary This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Broad expression in ovary (RPKM 21.4), endometrium (RPKM 16.6) and 20 other tissues See more Orthologs mouse all
PDZRN4, Official Symbol PDZRN4provided by HGNC Official Full Name PDZ domain containing ring finger 4provided by HGNC Primary source HGNC:HGNC:30552 See related Ensembl:ENSG00000165966 MIM:609730; AllianceGenome:HGNC:30552 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 LNX4; SAMCAP3L Summary Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in prostate (RPKM 5.3), urinary bladder (RPKM 3.3) and 15 other tissues See more Orthologs mouse all
PEA15, Official Symbol PEA15provided by HGNC Official Full Name proliferation and apoptosis adaptor protein 15provided by HGNC Primary source HGNC:HGNC:8822 See related Ensembl:ENSG00000162734 MIM:603434; AllianceGenome:HGNC:8822 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 PED; MAT1; HMAT1; MAT1H; PEA-15; HUMMAT1H; PED-PEA15; PED/PEA15 Summary This gene encodes a death effector domain-containing protein that functions as a negative regulator of apoptosis. The encoded protein is an endogenous substrate for protein kinase C. This protein is also overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Broad expression in brain (RPKM 413.0), fat (RPKM 91.8) and 18 other tissues See more Orthologs mouse all
PEAK1, Official Symbol PEAK1provided by HGNC Official Full Name pseudopodium enriched atypical kinase 1provided by HGNC Primary source HGNC:HGNC:29431 See related Ensembl:ENSG00000173517 MIM:614248; AllianceGenome:HGNC:29431 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 SGK269 Summary This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in spleen (RPKM 15.5), lung (RPKM 8.0) and 23 other tissues See more Orthologs mouse all
PEAK3, Official Symbol PEAK3provided by HGNC Official Full Name PEAK family member 3provided by HGNC Primary source HGNC:HGNC:24793 See related Ensembl:ENSG00000188305 MIM:618526; AllianceGenome:HGNC:24793 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 C19orf35 Summary Enables protein self-association. Involved in regulation of actin cytoskeleton organization and regulation of cell shape. Predicted to be active in actin cytoskeleton and focal adhesion. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
PEAR1, Official Symbol PEAR1provided by HGNC Official Full Name platelet endothelial aggregation receptor 1provided by HGNC Primary source HGNC:HGNC:33631 See related Ensembl:ENSG00000187800 MIM:610278; AllianceGenome:HGNC:33631 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 JEDI; MEGF12 Summary PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008] Expression Broad expression in fat (RPKM 9.8), placenta (RPKM 6.3) and 24 other tissues See more Orthologs mouse all
PEBP1, Official Symbol PEBP1provided by HGNC Official Full Name phosphatidylethanolamine binding protein 1provided by HGNC Primary source HGNC:HGNC:8630 See related Ensembl:ENSG00000089220 MIM:604591; AllianceGenome:HGNC:8630 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 PBP; HCNP; PEBP; RKIP; HCNPpp; PEBP-1; HEL-210; HEL-S-34; HEL-S-96 Summary This gene encodes a member of the phosphatidylethanolamine-binding family of proteins and has been shown to modulate multiple signaling pathways, including the MAP kinase (MAPK), NF-kappa B, and glycogen synthase kinase-3 (GSK-3) signaling pathways. The encoded protein can be further processed to form a smaller cleavage product, hippocampal cholinergic neurostimulating peptide (HCNP), which may be involved in neural development. This gene has been implicated in numerous human cancers and may act as a metastasis suppressor gene. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Jul 2015] Expression Broad expression in adrenal (RPKM 735.7), liver (RPKM 426.0) and 23 other tissues See more Orthologs mouse all
PEBP1P1, Official Symbol PEBP1P1provided by HGNC Official Full Name phosphatidylethanolamine binding protein 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:20054 See related AllianceGenome:HGNC:20054 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 PBPP1
PEBP1P3, Official Symbol PEBP1P3provided by HGNC Official Full Name phosphatidylethanolamine binding protein 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:44345 See related AllianceGenome:HGNC:44345 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PEBP4, Official Symbol PEBP4provided by HGNC Official Full Name phosphatidylethanolamine binding protein 4provided by HGNC Primary source HGNC:HGNC:28319 See related Ensembl:ENSG00000134020 MIM:612473; AllianceGenome:HGNC:28319 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 CORK1; CORK-1; PEBP-4; hPEBP4; PRO4408; GWTM1933; HEL-S-300 Summary The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008] Expression Biased expression in lung (RPKM 23.8), heart (RPKM 14.9) and 5 other tissues See more Orthologs mouse all
PECAM1, Official Symbol PECAM1provided by HGNC Official Full Name platelet and endothelial cell adhesion molecule 1provided by HGNC Primary source HGNC:HGNC:8823 See related Ensembl:ENSG00000261371 MIM:173445; AllianceGenome:HGNC:8823 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 CD31; PECA1; GPIIA'; PECAM-1; endoCAM; CD31/EndoCAM Summary The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010] Expression Broad expression in placenta (RPKM 145.1), lung (RPKM 87.5) and 19 other tissues See more Orthologs mouse all
PECR, Official Symbol PECRprovided by HGNC Official Full Name peroxisomal trans-2-enoyl-CoA reductaseprovided by HGNC Primary source HGNC:HGNC:18281 See related Ensembl:ENSG00000115425 MIM:605843; AllianceGenome:HGNC:18281 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 TERP; DCRRP; PVIARL; HPDHASE; SDR29C1; HSA250303 Summary Enables signaling receptor binding activity and trans-2-enoyl-CoA reductase (NADPH) activity. Involved in phytol metabolic process. Located in peroxisome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in liver (RPKM 14.1), fat (RPKM 7.2) and 15 other tissues See more Orthologs mouse all
PEDS1, Official Symbol PEDS1provided by HGNC Official Full Name plasmanylethanolamine desaturase 1provided by HGNC Primary source HGNC:HGNC:16735 See related Ensembl:ENSG00000240849 MIM:610994; AllianceGenome:HGNC:16735 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 KUA; CarF; TMEM189 Summary Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] Expression Ubiquitous expression in placenta (RPKM 19.8), esophagus (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
PEDS1-UBE2V1, Official Symbol PEDS1-UBE2V1provided by HGNC Official Full Name PEDS1-UBE2V1 readthroughprovided by HGNC Primary source HGNC:HGNC:33521 See related Ensembl:ENSG00000124208 AllianceGenome:HGNC:33521 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 CROC1B; CROC-1B; KUA-UEV; TMEM189-UBE2V1 Summary The TMEM189-UEV mRNA is an infrequent but naturally occurring read-through transcript of the neighboring TMEM189 and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein produced by this transcript has UEV1 B domains but the protein is localized to the cytoplasm rather than to the nucleus. The significance of this read-through mRNA and the function of its protein product has not yet been determined. [provided by RefSeq, Oct 2010] Expression Ubiquitous expression in brain (RPKM 35.8), placenta (RPKM 35.8) and 25 other tissues See more Orthologs all
PEF1, Official Symbol PEF1provided by HGNC Official Full Name penta-EF-hand domain containing 1provided by HGNC Primary source HGNC:HGNC:30009 See related Ensembl:ENSG00000162517 MIM:610033; AllianceGenome:HGNC:30009 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 ABP32; PEF1A Summary This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010] Expression Ubiquitous expression in thyroid (RPKM 29.9), placenta (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
PEG10, Official Symbol PEG10provided by HGNC Official Full Name paternally expressed 10provided by HGNC Primary source HGNC:HGNC:14005 See related Ensembl:ENSG00000242265 MIM:609810; AllianceGenome:HGNC:14005 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 EDR; HB-1; Mar2; RTL2; MEF3L; Mart2; RGAG3; SIRH1 Summary This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene. [provided by RefSeq, Oct 2014] Expression Biased expression in placenta (RPKM 304.5), adrenal (RPKM 114.1) and 3 other tissues See more Orthologs mouse all
PEG13, Official Symbol PEG13provided by HGNC Official Full Name paternally expressed 13provided by HGNC Primary source HGNC:HGNC:19969 See related Ensembl:ENSG00000282164 AllianceGenome:HGNC:19969 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PEG3, Official Symbol PEG3provided by HGNC Official Full Name paternally expressed 3provided by HGNC Primary source HGNC:HGNC:8826 See related Ensembl:ENSG00000198300 MIM:601483; AllianceGenome:HGNC:8826 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 PW1; ZNF904; ZSCAN24; ZKSCAN22 Summary In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5' exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009] Expression Biased expression in ovary (RPKM 126.4), placenta (RPKM 67.7) and 4 other tissues See more Orthologs mouse all
PELATON, Official Symbol PELATONprovided by HGNC Official Full Name plaque enriched lncRNA in atherosclerotic and inflammatory bowel macrophage regulationprovided by HGNC Primary source HGNC:HGNC:50328 See related Ensembl:ENSG00000224397 AllianceGenome:HGNC:50328 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 GCRL1; SMIM25; LINC01272 Expression Biased expression in appendix (RPKM 11.9), lung (RPKM 11.2) and 6 other tissues See more Orthologs all
PELI1, Official Symbol PELI1provided by HGNC Official Full Name pellino E3 ubiquitin protein ligase 1provided by HGNC Primary source HGNC:HGNC:8827 See related Ensembl:ENSG00000197329 MIM:614797; AllianceGenome:HGNC:8827 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 ubiquitin protein ligase activity. Involved in several processes, including negative regulation of necroptotic process; protein polyubiquitination; and response to lipopolysaccharide. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 57.0), esophagus (RPKM 14.7) and 19 other tissues See more Orthologs mouse all
PELI2, Official Symbol PELI2provided by HGNC Official Full Name pellino E3 ubiquitin protein ligase family member 2provided by HGNC Primary source HGNC:HGNC:8828 See related Ensembl:ENSG00000139946 MIM:614798; AllianceGenome:HGNC:8828 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 protein-macromolecule adaptor activity and ubiquitin protein ligase activity. Acts upstream of or within positive regulation of MAPK cascade and positive regulation of protein phosphorylation. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PELI3, Official Symbol PELI3provided by HGNC Official Full Name pellino E3 ubiquitin protein ligase family member 3provided by HGNC Primary source HGNC:HGNC:30010 See related Ensembl:ENSG00000174516 MIM:609827; AllianceGenome:HGNC:30010 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 a scaffold protein and an intermediate signaling protein in the innate immune response pathway. The encoded protein helps transmit the immune response signal from Toll-like receptors to IRAK1/TRAF6 complexes. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] Expression Ubiquitous expression in brain (RPKM 6.1), ovary (RPKM 4.8) and 24 other tissues See more Orthologs mouse all
PELO, Official Symbol PELOprovided by HGNC Official Full Name pelota mRNA surveillance and ribosome rescue factorprovided by HGNC Primary source HGNC:HGNC:8829 See related Ensembl:ENSG00000152684 MIM:605757; AllianceGenome:HGNC:8829 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 CGI-17; PRO1770 Summary This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 14.2), spleen (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
PELP1, Official Symbol PELP1provided by HGNC Official Full Name proline, glutamate and leucine rich protein 1provided by HGNC Primary source HGNC:HGNC:30134 See related Ensembl:ENSG00000141456 MIM:609455; AllianceGenome:HGNC:30134 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 MNAR; P160 Summary This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Ubiquitous expression in testis (RPKM 17.1), brain (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
PEMT, Official Symbol PEMTprovided by HGNC Official Full Name phosphatidylethanolamine N-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:8830 See related Ensembl:ENSG00000133027 MIM:602391; AllianceGenome:HGNC:8830 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 PLMT; PNMT; PEAMT; PEMPT; PEMT2 Summary Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012] Expression Broad expression in liver (RPKM 29.5), fat (RPKM 10.2) and 25 other tissues See more Orthologs mouse all
PENK, Official Symbol PENKprovided by HGNC Official Full Name proenkephalinprovided by HGNC Primary source HGNC:HGNC:8831 See related Ensembl:ENSG00000181195 MIM:131330; AllianceGenome:HGNC:8831 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 PE; PENK-A Summary This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the pentapeptide opioids Met-enkephalin and Leu-enkephalin, which are stored in synaptic vesicles, then released into the synapse where they bind to mu- and delta-opioid receptors to modulate the perception of pain. Other non-opioid cleavage products may function in distinct biological activities. [provided by RefSeq, Jul 2015] Expression Biased expression in adrenal (RPKM 200.5), testis (RPKM 60.4) and 1 other tissue See more Orthologs mouse all
PEPD, Official Symbol PEPDprovided by HGNC Official Full Name peptidase Dprovided by HGNC Primary source HGNC:HGNC:8840 See related Ensembl:ENSG00000124299 MIM:613230; AllianceGenome:HGNC:8840 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 PROLIDASE Summary This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] Expression Broad expression in kidney (RPKM 221.6), small intestine (RPKM 95.0) and 19 other tissues See more Orthologs mouse all
PER1, Official Symbol PER1provided by HGNC Official Full Name period circadian regulator 1provided by HGNC Primary source HGNC:HGNC:8845 See related Ensembl:ENSG00000179094 MIM:602260; AllianceGenome:HGNC:8845 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 PER; hPER; RIGUI Summary This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in bone marrow (RPKM 31.1), ovary (RPKM 28.6) and 25 other tissues See more Orthologs mouse all
PER2, Official Symbol PER2provided by HGNC Official Full Name period circadian regulator 2provided by HGNC Primary source HGNC:HGNC:8846 See related Ensembl:ENSG00000132326 MIM:603426; AllianceGenome:HGNC:8846 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 FASPS; FASPS1 Summary This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in testis (RPKM 8.7), gall bladder (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
PER3, Official Symbol PER3provided by HGNC Official Full Name period circadian regulator 3provided by HGNC Primary source HGNC:HGNC:8847 See related Ensembl:ENSG00000049246 MIM:603427; AllianceGenome:HGNC:8847 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 GIG13; FASPS3 Summary This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in thyroid (RPKM 14.6), fat (RPKM 11.2) and 24 other tissues See more Orthologs mouse all
PERCC1, Official Symbol PERCC1provided by HGNC Official Full Name proline and glutamate rich with coiled coil 1provided by HGNC Primary source HGNC:HGNC:52293 See related Ensembl:ENSG00000284395 MIM:618656; AllianceGenome:HGNC:52293 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 ICR; gs104; DIAR11 Summary Predicted to be involved in digestive tract morphogenesis and enteroendocrine cell differentiation. Implicated in congenital diarrhea. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PERM1, Official Symbol PERM1provided by HGNC Official Full Name PPARGC1 and ESRR induced regulator, muscle 1provided by HGNC Primary source HGNC:HGNC:28208 See related Ensembl:ENSG00000187642 MIM:615921; AllianceGenome:HGNC:28208 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 C1orf170 Summary Involved in response to muscle activity. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 9.8), skin (RPKM 3.0) and 2 other tissues See more Orthologs mouse all
PERP, Official Symbol PERPprovided by HGNC Official Full Name p53 apoptosis effector related to PMP22provided by HGNC Primary source HGNC:HGNC:17637 See related Ensembl:ENSG00000112378 MIM:609301; AllianceGenome:HGNC:17637 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 THW; KCP1; EKVP7; OLMS2; PIGPC1; KRTCAP1; dJ496H19.1 Summary Involved in activation of cysteine-type endopeptidase activity. Predicted to be located in plasma membrane. Predicted to be active in cell-cell junction. Implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 558.0), esophagus (RPKM 335.7) and 6 other tissues See more Orthologs mouse all
PES1, Official Symbol PES1provided by HGNC Official Full Name pescadillo ribosomal biogenesis factor 1provided by HGNC Primary source HGNC:HGNC:8848 See related Ensembl:ENSG00000100029 MIM:605819; AllianceGenome:HGNC:8848 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 PES; NOP7 Summary This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in testis (RPKM 9.0), ovary (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
PES1P1, Official Symbol PES1P1provided by HGNC Official Full Name pescadillo ribosomal biogenesis factor 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44058 See related Ensembl:ENSG00000248191 AllianceGenome:HGNC:44058 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PES1P2, Official Symbol PES1P2provided by HGNC Official Full Name pescadillo ribosomal biogenesis factor 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44059 See related Ensembl:ENSG00000229268 AllianceGenome:HGNC:44059 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PET100, Official Symbol PET100provided by HGNC Official Full Name PET100 cytochrome c oxidase chaperoneprovided by HGNC Primary source HGNC:HGNC:40038 See related Ensembl:ENSG00000229833 MIM:614770; AllianceGenome:HGNC:40038 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 MC4DN12; C19orf79 Summary Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in kidney (RPKM 40.1), colon (RPKM 37.0) and 25 other tissues See more Orthologs mouse all
PET117, Official Symbol PET117provided by HGNC Official Full Name PET117 cytochrome c oxidase chaperoneprovided by HGNC Primary source HGNC:HGNC:40045 See related Ensembl:ENSG00000232838 MIM:614771; AllianceGenome:HGNC:40045 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 CSRP2BP; MC4DN19 Summary Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Implicated in cytochrome-c oxidase deficiency disease. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 11.7), stomach (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
PEX1, Official Symbol PEX1provided by HGNC Official Full Name peroxisomal biogenesis factor 1provided by HGNC Primary source HGNC:HGNC:8850 See related Ensembl:ENSG00000127980 MIM:602136; AllianceGenome:HGNC:8850 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 ZWS; ZWS1; HMLR1; PBD1A; PBD1B Summary This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in thyroid (RPKM 8.3), kidney (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
PEX10, Official Symbol PEX10provided by HGNC Official Full Name peroxisomal biogenesis factor 10provided by HGNC Primary source HGNC:HGNC:8851 See related Ensembl:ENSG00000157911 MIM:602859; AllianceGenome:HGNC:8851 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 NALD; PBD6A; PBD6B; RNF69 Summary This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 12.5), fat (RPKM 12.4) and 25 other tissues See more Orthologs mouse all
PEX11A, Official Symbol PEX11Aprovided by HGNC Official Full Name peroxisomal biogenesis factor 11 alphaprovided by HGNC Primary source HGNC:HGNC:8852 See related Ensembl:ENSG00000166821 MIM:603866; AllianceGenome:HGNC:8852 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 PMP28; hsPEX11p; PEX11alpha; PEX11-ALPHA Summary This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] Expression Ubiquitous expression in fat (RPKM 14.4), prostate (RPKM 9.1) and 24 other tissues See more Orthologs mouse all
PEX11B, Official Symbol PEX11Bprovided by HGNC Official Full Name peroxisomal biogenesis factor 11 betaprovided by HGNC Primary source HGNC:HGNC:8853 See related Ensembl:ENSG00000131779 MIM:603867; AllianceGenome:HGNC:8853 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 PEX14B; PEX11beta; PEX11-BETA Summary The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in brain (RPKM 12.5), thyroid (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
PEX11G, Official Symbol PEX11Gprovided by HGNC Official Full Name peroxisomal biogenesis factor 11 gammaprovided by HGNC Primary source HGNC:HGNC:20208 See related Ensembl:ENSG00000104883 MIM:607583; AllianceGenome:HGNC:20208 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 PEX11gamma Summary The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] Expression Broad expression in testis (RPKM 3.6), kidney (RPKM 2.2) and 23 other tissues See more Orthologs mouse all
PEX12, Official Symbol PEX12provided by HGNC Official Full Name peroxisomal biogenesis factor 12provided by HGNC Primary source HGNC:HGNC:8854 See related Ensembl:ENSG00000108733 MIM:601758; AllianceGenome:HGNC:8854 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 PAF-3; PBD3A Summary This gene belongs to the peroxin-12 family. 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 Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
PEX13, Official Symbol PEX13provided by HGNC Official Full Name peroxisomal biogenesis factor 13provided by HGNC Primary source HGNC:HGNC:8855 See related Ensembl:ENSG00000162928 MIM:601789; AllianceGenome:HGNC:8855 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 ZWS; NALD; PBD11A; PBD11B Summary This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in thyroid (RPKM 8.0), liver (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
PEX14, Official Symbol PEX14provided by HGNC Official Full Name peroxisomal biogenesis factor 14provided by HGNC Primary source HGNC:HGNC:8856 See related Ensembl:ENSG00000142655 MIM:601791; AllianceGenome:HGNC:8856 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 NAPP2; PBD13A; Pex14p; dJ734G22.2 Summary This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 3.2), urinary bladder (RPKM 3.0) and 25 other tissues See more Orthologs mouse all