psui3905/ncbi_genes_summary huggingface dataset:
CPEB3, Official Symbol CPEB3provided by HGNC Official Full Name cytoplasmic polyadenylation element binding protein 3provided by HGNC Primary source HGNC:HGNC:21746 See related Ensembl:ENSG00000107864 MIM:610606; AllianceGenome:HGNC:21746 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 mRNA 3'-UTR binding activity and translation factor activity, RNA binding. Involved in cellular response to amino acid stimulus; negative regulation of transcription by RNA polymerase II; and positive regulation of mRNA catabolic process. Located in several cellular components, including cytosol; midbody; and nucleoplasm. Part of CCR4-NOT complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 4.8), liver (RPKM 4.1) and 25 other tissues See more Orthologs mouse all
CPEB4, Official Symbol CPEB4provided by HGNC Official Full Name cytoplasmic polyadenylation element binding protein 4provided by HGNC Primary source HGNC:HGNC:21747 See related Ensembl:ENSG00000113742 MIM:610607; AllianceGenome:HGNC:21747 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 CPE-BP4; hCPEB-4 Summary Enables RNA binding activity. Predicted to be involved in several processes, including cellular response to glucose starvation; negative regulation of cytoplasmic translation; and response to ischemia. Located in cytoplasm and nucleus. Biomarker of liver cirrhosis; portal hypertension; and primary biliary cholangitis. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 26.5), bone marrow (RPKM 18.8) and 25 other tissues See more Orthologs mouse all
CPED1, Official Symbol CPED1provided by HGNC Official Full Name cadherin like and PC-esterase domain containing 1provided by HGNC Primary source HGNC:HGNC:26159 See related Ensembl:ENSG00000106034 AllianceGenome:HGNC:26159 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 C7orf58 Summary Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 27.4), ovary (RPKM 24.4) and 19 other tissues See more Orthologs mouse all
CPHXL, Official Symbol CPHXLprovided by HGNC Official Full Name cytoplasmic polyadenylated homeobox likeprovided by HGNC Primary source HGNC:HGNC:51815 See related Ensembl:ENSG00000283755 MIM:618700; AllianceGenome:HGNC:51815 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 CPHXL1 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
CPLANE1, Official Symbol CPLANE1provided by HGNC Official Full Name ciliogenesis and planar polarity effector complex subunit 1provided by HGNC Primary source HGNC:HGNC:25801 See related Ensembl:ENSG00000197603 MIM:614571; AllianceGenome:HGNC:25801 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 Hug; OFD6; JBTS17; C5orf42 Summary The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012] Expression Ubiquitous expression in thyroid (RPKM 3.4), testis (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
CPLANE2, Official Symbol CPLANE2provided by HGNC Official Full Name ciliogenesis and planar polarity effector complex subunit 2provided by HGNC Primary source HGNC:HGNC:28127 See related Ensembl:ENSG00000132881 MIM:620487; AllianceGenome:HGNC:28127 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 RSG1; C1orf89 Summary Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in cellular protein localization; cilium assembly; and regulation of vesicle-mediated transport. Predicted to be located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 2.8), ovary (RPKM 1.9) and 25 other tissues See more Orthologs mouse all
CPLX1, Official Symbol CPLX1provided by HGNC Official Full Name complexin 1provided by HGNC Primary source HGNC:HGNC:2309 See related Ensembl:ENSG00000168993 MIM:605032; AllianceGenome:HGNC:2309 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 CPX1; CPX-I; DEE63; EIEE63 Summary Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 19.8), fat (RPKM 3.8) and 5 other tissues See more Orthologs mouse all
CPLX2, Official Symbol CPLX2provided by HGNC Official Full Name complexin 2provided by HGNC Primary source HGNC:HGNC:2310 See related Ensembl:ENSG00000145920 MIM:605033; AllianceGenome:HGNC:2310 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 CPX2; Hfb1; 921-L; CPX-2 Summary Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 63.0) and adrenal (RPKM 12.1) See more Orthologs mouse all
CPLX3, Official Symbol CPLX3provided by HGNC Official Full Name complexin 3provided by HGNC Primary source HGNC:HGNC:27652 See related Ensembl:ENSG00000213578 MIM:609585; AllianceGenome:HGNC:27652 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 CPXIII; CPX-III; Nbla11589 Summary Predicted to enable SNARE binding activity. Predicted to be involved in regulation of neurotransmitter secretion and synaptic vesicle exocytosis. Predicted to be located in plasma membrane and synapse. Predicted to be part of SNARE complex. Predicted to be active in photoreceptor ribbon synapse and terminal bouton. Predicted to be anchored component of presynaptic active zone membrane and anchored component of synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 58.8), spleen (RPKM 33.7) and 3 other tissues See more Orthologs mouse all
CPLX4, Official Symbol CPLX4provided by HGNC Official Full Name complexin 4provided by HGNC Primary source HGNC:HGNC:24330 See related Ensembl:ENSG00000166569 MIM:609586; AllianceGenome:HGNC:24330 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 CPXIV; CPX-IV Summary This gene likely encodes a member of the complexin family. The encoded protein may be involved in synaptic vesicle exocytosis. [provided by RefSeq, Jan 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
CPM, Official Symbol CPMprovided by HGNC Official Full Name carboxypeptidase Mprovided by HGNC Primary source HGNC:HGNC:2311 See related Ensembl:ENSG00000135678 MIM:114860; AllianceGenome:HGNC:2311 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 membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 56.0), lung (RPKM 21.3) and 19 other tissues See more Orthologs mouse all
CPN1, Official Symbol CPN1provided by HGNC Official Full Name carboxypeptidase N subunit 1provided by HGNC Primary source HGNC:HGNC:2312 See related Ensembl:ENSG00000120054 MIM:603103; AllianceGenome:HGNC:2312 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 CPN; SCPN Summary Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008] Expression Restricted expression toward liver (RPKM 18.6) See more Orthologs mouse all
CPN2, Official Symbol CPN2provided by HGNC Official Full Name carboxypeptidase N subunit 2provided by HGNC Primary source HGNC:HGNC:2313 See related Ensembl:ENSG00000178772 MIM:603104; AllianceGenome:HGNC:2313 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 ACBP Summary Predicted to be involved in regulation of catalytic activity. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward liver (RPKM 60.4) See more Orthologs mouse all
CPNE1, Official Symbol CPNE1provided by HGNC Official Full Name copine 1provided by HGNC Primary source HGNC:HGNC:2314 See related Ensembl:ENSG00000214078 MIM:604205; AllianceGenome:HGNC:2314 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 CPN1; COPN1 Summary Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in spleen (RPKM 33.6), placenta (RPKM 33.3) and 25 other tissues See more Orthologs mouse all
CPNE2, Official Symbol CPNE2provided by HGNC Official Full Name copine 2provided by HGNC Primary source HGNC:HGNC:2315 See related Ensembl:ENSG00000140848 MIM:604206; AllianceGenome:HGNC:2315 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 CPN2; COPN2 Summary Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lung (RPKM 25.9), fat (RPKM 23.8) and 24 other tissues See more Orthologs mouse all
CPNE3, Official Symbol CPNE3provided by HGNC Official Full Name copine 3provided by HGNC Primary source HGNC:HGNC:2316 See related Ensembl:ENSG00000085719 MIM:604207; AllianceGenome:HGNC:2316 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 CPN3; PRO1071 Summary Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in thyroid (RPKM 40.1), esophagus (RPKM 38.1) and 25 other tissues See more Orthologs mouse all
CPNE4, Official Symbol CPNE4provided by HGNC Official Full Name copine 4provided by HGNC Primary source HGNC:HGNC:2317 See related Ensembl:ENSG00000196353 MIM:604208; AllianceGenome:HGNC:2317 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 CPN4; COPN4 Summary This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Biased expression in prostate (RPKM 9.1), brain (RPKM 2.4) and 2 other tissues See more Orthologs mouse all
CPNE5, Official Symbol CPNE5provided by HGNC Official Full Name copine 5provided by HGNC Primary source HGNC:HGNC:2318 See related Ensembl:ENSG00000124772 MIM:604209; AllianceGenome:HGNC:2318 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 CPN5; COPN5 Summary Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. More variants may exist, but their full-length natures could not be determined. [provided by RefSeq, Sep 2015] Expression Biased expression in brain (RPKM 15.7), lymph node (RPKM 8.6) and 9 other tissues See more Orthologs mouse all
CPNE6, Official Symbol CPNE6provided by HGNC Official Full Name copine 6provided by HGNC Primary source HGNC:HGNC:2319 See related Ensembl:ENSG00000100884 MIM:605688; AllianceGenome:HGNC:2319 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 copine-6 Summary This gene encodes a member of the copine family. Members of this family are calcium-dependent, phospholipid-binding proteins with C2 domains, two calcium- and phospholipid-binding domains. Through their domain structure and lipid binding capabilities, these proteins may play a role in membrane trafficking. This protein is thought to be brain-specific and has a domain structure of two N-terminal C2 domains and one von Willebrand factor A domain. It may have a role in synaptic plasticity. [provided by RefSeq, Jul 2013] Expression Biased expression in brain (RPKM 23.5), small intestine (RPKM 2.5) and 3 other tissues See more Orthologs mouse all
CPNE7, Official Symbol CPNE7provided by HGNC Official Full Name copine 7provided by HGNC Primary source HGNC:HGNC:2320 See related Ensembl:ENSG00000178773 MIM:605689; AllianceGenome:HGNC:2320 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 member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Expression Broad expression in brain (RPKM 2.3), stomach (RPKM 1.2) and 16 other tissues See more Orthologs mouse all
CPNE8, Official Symbol CPNE8provided by HGNC Official Full Name copine 8provided by HGNC Primary source HGNC:HGNC:23498 See related Ensembl:ENSG00000139117 AllianceGenome:HGNC:23498 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 Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 2.0), placenta (RPKM 2.0) and 24 other tissues See more Orthologs mouse all
CPNE8-AS1, Official Symbol CPNE8-AS1provided by HGNC Official Full Name CPNE8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53937 See related Ensembl:ENSG00000257718 AllianceGenome:HGNC:53937 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in testis (RPKM 1.0), liver (RPKM 0.9) and 24 other tissues See more
CPNE9, Official Symbol CPNE9provided by HGNC Official Full Name copine family member 9provided by HGNC Primary source HGNC:HGNC:24336 See related Ensembl:ENSG00000144550 AllianceGenome:HGNC:24336 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 calcium-dependent phospholipid binding activity. Involved in positive regulation of dendrite extension. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 3.5), skin (RPKM 0.4) and 3 other tissues See more Orthologs mouse all
CPO, Official Symbol CPOprovided by HGNC Official Full Name carboxypeptidase Oprovided by HGNC Primary source HGNC:HGNC:21011 See related Ensembl:ENSG00000144410 MIM:609563; AllianceGenome:HGNC:21011 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is a member of the metallocarboxypeptidase gene family. [provided by RefSeq, Jan 2011] Expression Biased expression in small intestine (RPKM 9.1) and thyroid (RPKM 0.3) See more Orthologs mouse all
CPOX, Official Symbol CPOXprovided by HGNC Official Full Name coproporphyrinogen oxidaseprovided by HGNC Primary source HGNC:HGNC:2321 See related Ensembl:ENSG00000080819 MIM:612732; AllianceGenome:HGNC:2321 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 COX; CPO; CPX; HCP; HARPO Summary The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in bone marrow (RPKM 5.0), liver (RPKM 3.1) and 24 other tissues See more Orthologs mouse all
CPPED1, Official Symbol CPPED1provided by HGNC Official Full Name calcineurin like phosphoesterase domain containing 1provided by HGNC Primary source HGNC:HGNC:25632 See related Ensembl:ENSG00000103381 MIM:615603; AllianceGenome:HGNC:25632 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 CSTP1 Summary Predicted to enable metal ion binding activity; protein serine phosphatase activity; and protein threonine phosphatase activity. Predicted to be involved in protein dephosphorylation. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 8.6), kidney (RPKM 8.5) and 24 other tissues See more Orthologs mouse all
CPQ, Official Symbol CPQprovided by HGNC Official Full Name carboxypeptidase Qprovided by HGNC Primary source HGNC:HGNC:16910 See related Ensembl:ENSG00000104324 MIM:618754; AllianceGenome:HGNC:16910 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 LDP; PGCP Summary This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013] Expression Broad expression in thyroid (RPKM 83.5), ovary (RPKM 28.7) and 24 other tissues See more Orthologs mouse all
CPS1, Official Symbol CPS1provided by HGNC Official Full Name carbamoyl-phosphate synthase 1provided by HGNC Primary source HGNC:HGNC:2323 See related Ensembl:ENSG00000021826 MIM:608307; AllianceGenome:HGNC:2323 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 PHN; GATD6; CPSASE1 Summary The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010] Expression Biased expression in liver (RPKM 281.3), duodenum (RPKM 102.6) and 1 other tissue See more Orthologs mouse all
CPS1-IT1, Official Symbol CPS1-IT1provided by HGNC Official Full Name CPS1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:30102 See related Ensembl:ENSG00000280837 AllianceGenome:HGNC:30102 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 CPS1IT; CPS1-IT; CPS1IT1; PRO0132 Summary This gene does not encode a protein, and it is located within an intron of the gene encoding carbamoyl-phosphate synthetase 1. [provided by RefSeq, Jul 2008]
CPSF1, Official Symbol CPSF1provided by HGNC Official Full Name cleavage and polyadenylation specific factor 1provided by HGNC Primary source HGNC:HGNC:2324 See related Ensembl:ENSG00000071894 MIM:606027; AllianceGenome:HGNC:2324 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 MYP27; CPSF160; P/cl.18; HSU37012 Summary Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 31.8), duodenum (RPKM 25.9) and 25 other tissues See more Orthologs mouse all
CPSF1P1, Official Symbol CPSF1P1provided by HGNC Official Full Name CPSF1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:19251 See related Ensembl:ENSG00000214076 AllianceGenome:HGNC:19251 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 dJ90G24.5
CPSF1P2, Official Symbol CPSF1P2provided by HGNC Official Full Name CPSF1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54959 See related Ensembl:ENSG00000220132 AllianceGenome:HGNC:54959 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CPSF2, Official Symbol CPSF2provided by HGNC Official Full Name cleavage and polyadenylation specific factor 2provided by HGNC Primary source HGNC:HGNC:2325 See related Ensembl:ENSG00000165934 MIM:606028; AllianceGenome:HGNC:2325 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 CPSF100 Summary Predicted to enable RNA binding activity. Involved in mRNA 3'-end processing by stem-loop binding activity and cleavage. Located in membrane. Part of mRNA cleavage and polyadenylation specificity factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 13.0), thyroid (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
CPSF3, Official Symbol CPSF3provided by HGNC Official Full Name cleavage and polyadenylation specific factor 3provided by HGNC Primary source HGNC:HGNC:2326 See related Ensembl:ENSG00000119203 MIM:606029; AllianceGenome:HGNC:2326 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 CPSF73; NEDMHS; CPSF-73; NEDMHSN Summary This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012] Expression Broad expression in testis (RPKM 20.7), lymph node (RPKM 8.6) and 24 other tissues See more Orthologs mouse all
CPSF4, Official Symbol CPSF4provided by HGNC Official Full Name cleavage and polyadenylation specific factor 4provided by HGNC Primary source HGNC:HGNC:2327 See related Ensembl:ENSG00000160917 MIM:603052; AllianceGenome:HGNC:2327 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 NAR; NEB1; NEB-1; CPSF30 Summary Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 7.2), lymph node (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
CPSF4L, Official Symbol CPSF4Lprovided by HGNC Official Full Name cleavage and polyadenylation specific factor 4 likeprovided by HGNC Primary source HGNC:HGNC:33632 See related Ensembl:ENSG00000187959 AllianceGenome:HGNC:33632 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 RNA binding activity and metal ion binding activity. Predicted to be involved in pre-mRNA cleavage required for polyadenylation. Predicted to be part of mRNA cleavage and polyadenylation specificity factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 2.8), duodenum (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
CPSF6, Official Symbol CPSF6provided by HGNC Official Full Name cleavage and polyadenylation specific factor 6provided by HGNC Primary source HGNC:HGNC:13871 See related Ensembl:ENSG00000111605 MIM:604979; AllianceGenome:HGNC:13871 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 CFIM; CFIM68; CFIM72; HPBRII-4; HPBRII-7 Summary The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 16.3), lymph node (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
CPSF7, Official Symbol CPSF7provided by HGNC Official Full Name cleavage and polyadenylation specific factor 7provided by HGNC Primary source HGNC:HGNC:30098 See related Ensembl:ENSG00000149532 AllianceGenome:HGNC:30098 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 CFIm59 Summary Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as a heterotetramer, with a dimer of the 25 kDa subunit binding to two of the 59 or 68 kDa subunits. The protein encoded by this gene represents the 59 kDa subunit, which can interact with the splicing factor U2 snRNP Auxiliary Factor (U2AF) 65 to link the splicing and polyadenylation complexes. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in ovary (RPKM 25.0), testis (RPKM 24.0) and 25 other tissues See more Orthologs mouse all
CPT1A, Official Symbol CPT1Aprovided by HGNC Official Full Name carnitine palmitoyltransferase 1Aprovided by HGNC Primary source HGNC:HGNC:2328 See related Ensembl:ENSG00000110090 MIM:600528; AllianceGenome:HGNC:2328 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 CPT1; CPT1-L; L-CPT1 Summary The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 34.6), small intestine (RPKM 28.5) and 25 other tissues See more Orthologs mouse all
CPT1B, Official Symbol CPT1Bprovided by HGNC Official Full Name carnitine palmitoyltransferase 1Bprovided by HGNC Primary source HGNC:HGNC:2329 See related Ensembl:ENSG00000205560 MIM:601987; AllianceGenome:HGNC:2329 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 CPTI; CPT1M; MCPT1; CPT1-M; CPTI-M; M-CPT1; MCCPT1 Summary The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009] Expression Broad expression in heart (RPKM 59.4), testis (RPKM 39.6) and 20 other tissues See more Orthologs mouse all
CPT1C, Official Symbol CPT1Cprovided by HGNC Official Full Name carnitine palmitoyltransferase 1Cprovided by HGNC Primary source HGNC:HGNC:18540 See related Ensembl:ENSG00000169169 MIM:608846; AllianceGenome:HGNC:18540 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 CATL1; CPT1P; CPTIC; SPG73; CPT1-B; CPTI-B Summary This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] Expression Biased expression in brain (RPKM 10.7), endometrium (RPKM 2.3) and 9 other tissues See more Orthologs mouse all
CPT2, Official Symbol CPT2provided by HGNC Official Full Name carnitine palmitoyltransferase 2provided by HGNC Primary source HGNC:HGNC:2330 See related Ensembl:ENSG00000157184 MIM:600650; AllianceGenome:HGNC:2330 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 CPT1; IIAE4; CPTASE Summary The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 19.1), colon (RPKM 17.3) and 25 other tissues See more Orthologs mouse all
CPTP, Official Symbol CPTPprovided by HGNC Official Full Name ceramide-1-phosphate transfer proteinprovided by HGNC Primary source HGNC:HGNC:28116 See related Ensembl:ENSG00000224051 MIM:615467; AllianceGenome:HGNC:28116 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 GLTPD1 Summary Enables ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Involved in several processes, including ceramide 1-phosphate transport; negative regulation of NLRP3 inflammasome complex assembly; and negative regulation of interleukin-1 beta production. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 11.0), colon (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
CPVL, Official Symbol CPVLprovided by HGNC Official Full Name carboxypeptidase vitellogenic likeprovided by HGNC Primary source HGNC:HGNC:14399 See related Ensembl:ENSG00000106066 MIM:609780; AllianceGenome:HGNC:14399 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 HVLP Summary The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. [provided by RefSeq, Jan 2017] Expression Broad expression in spleen (RPKM 87.7), thyroid (RPKM 67.4) and 23 other tissues See more Orthologs mouse all
CPVL-AS1, Official Symbol CPVL-AS1provided by HGNC Official Full Name CPVL antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40685 See related Ensembl:ENSG00000229452 AllianceGenome:HGNC:40685 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
CPXCR1, Official Symbol CPXCR1provided by HGNC Official Full Name CPX chromosome region candidate 1provided by HGNC Primary source HGNC:HGNC:2332 See related Ensembl:ENSG00000147183 MIM:301055; AllianceGenome:HGNC:2332 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 CT77 Summary This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] Expression Restricted expression toward testis (RPKM 3.8) See more Orthologs mouse all
CPXM1, Official Symbol CPXM1provided by HGNC Official Full Name carboxypeptidase X, M14 family member 1provided by HGNC Primary source HGNC:HGNC:15771 See related Ensembl:ENSG00000088882 MIM:609555; AllianceGenome:HGNC:15771 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 CPX1; CPXM Summary This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010] Expression Biased expression in endometrium (RPKM 64.0), gall bladder (RPKM 53.3) and 10 other tissues See more Orthologs mouse all
CPXM2, Official Symbol CPXM2provided by HGNC Official Full Name carboxypeptidase X, M14 family member 2provided by HGNC Primary source HGNC:HGNC:26977 See related Ensembl:ENSG00000121898 MIM:617348; AllianceGenome:HGNC:26977 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 CPX2; UNQ676 Summary Predicted to enable metallocarboxypeptidase activity. Predicted to be involved in peptide metabolic process and protein processing. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in urinary bladder (RPKM 10.5), fat (RPKM 8.3) and 19 other tissues See more Orthologs mouse all
CPZ, Official Symbol CPZprovided by HGNC Official Full Name carboxypeptidase Zprovided by HGNC Primary source HGNC:HGNC:2333 See related Ensembl:ENSG00000109625 MIM:603105; AllianceGenome:HGNC:2333 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 member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Biased expression in ovary (RPKM 47.9), placenta (RPKM 26.8) and 8 other tissues See more Orthologs mouse all
CR1, Official Symbol CR1provided by HGNC Official Full Name complement C3b/C4b receptor 1 (Knops blood group)provided by HGNC Primary source HGNC:HGNC:2334 See related Ensembl:ENSG00000203710 MIM:120620; AllianceGenome:HGNC:2334 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 KN; C3BR; C4BR; CD35 Summary This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020] Expression Biased expression in appendix (RPKM 18.3), spleen (RPKM 14.7) and 10 other tissues See more Orthologs all
CR1L, Official Symbol CR1Lprovided by HGNC Official Full Name complement C3b/C4b receptor 1 likeprovided by HGNC Primary source HGNC:HGNC:2335 See related Ensembl:ENSG00000197721 MIM:605886; AllianceGenome:HGNC:2335 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 Acts upstream of or within regulation of complement activation and regulation of complement-dependent cytotoxicity. Part of receptor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 3.2), appendix (RPKM 1.6) and 5 other tissues See more Orthologs mouse all