psui3905/ncbi_genes_summary huggingface dataset:
ABTB1, Official Symbol ABTB1provided by HGNC Official Full Name ankyrin repeat and BTB domain containing 1provided by HGNC Primary source HGNC:HGNC:18275 See related Ensembl:ENSG00000114626 MIM:608308; AllianceGenome:HGNC:18275 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 BPOZ; BTB3; BPOZ-2; BTBD21; EF1ABP; PP2259 Summary This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in spleen (RPKM 23.0), bone marrow (RPKM 13.1) and 25 other tissues See more Orthologs mouse all
ABTB2, Official Symbol ABTB2provided by HGNC Official Full Name ankyrin repeat and BTB domain containing 2provided by HGNC Primary source HGNC:HGNC:23842 See related Ensembl:ENSG00000166016 AllianceGenome:HGNC:23842 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 ABTB2A; BTBD22 Summary Predicted to enable protein heterodimerization activity. Predicted to act upstream of or within cellular response to toxic substance. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 5.3), adrenal (RPKM 5.3) and 24 other tissues See more Orthologs mouse all
ACAA1, Official Symbol ACAA1provided by HGNC Official Full Name acetyl-CoA acyltransferase 1provided by HGNC Primary source HGNC:HGNC:82 See related Ensembl:ENSG00000060971 MIM:604054; AllianceGenome:HGNC:82 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 ACAA; THIO; PTHIO; Lnc-Myd88 Summary This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 125.0), kidney (RPKM 97.3) and 24 other tissues See more Orthologs mouse all
ACAA2, Official Symbol ACAA2provided by HGNC Official Full Name acetyl-CoA acyltransferase 2provided by HGNC Primary source HGNC:HGNC:83 See related Ensembl:ENSG00000167315 MIM:604770; AllianceGenome:HGNC:83 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 DSAEC Summary The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 207.5), kidney (RPKM 133.1) and 19 other tissues See more Orthologs mouse all
ACACA, Official Symbol ACACAprovided by HGNC Official Full Name acetyl-CoA carboxylase alphaprovided by HGNC Primary source HGNC:HGNC:84 See related Ensembl:ENSG00000278540 MIM:200350; AllianceGenome:HGNC:84 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 ACC; ACAC; ACC1; ACCA; Acac1; hACC1; ACACAD; ACCalpha; ACACalpha Summary Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 9.8), brain (RPKM 9.7) and 24 other tissues See more Orthologs mouse all
ACACB, Official Symbol ACACBprovided by HGNC Official Full Name acetyl-CoA carboxylase betaprovided by HGNC Primary source HGNC:HGNC:85 See related Ensembl:ENSG00000076555 MIM:601557; AllianceGenome:HGNC:85 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 ACC2; ACCB; ACCbeta; HACC275; ACACbeta; ACC-beta Summary Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022] Expression Biased expression in fat (RPKM 94.8), liver (RPKM 8.9) and 6 other tissues See more Orthologs mouse all
ACAD10, Official Symbol ACAD10provided by HGNC Official Full Name acyl-CoA dehydrogenase family member 10provided by HGNC Primary source HGNC:HGNC:21597 See related Ensembl:ENSG00000111271 MIM:611181; AllianceGenome:HGNC:21597 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 acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008] Expression Ubiquitous expression in kidney (RPKM 11.6), duodenum (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
ACAD11, Official Symbol ACAD11provided by HGNC Official Full Name acyl-CoA dehydrogenase family member 11provided by HGNC Primary source HGNC:HGNC:30211 See related Ensembl:ENSG00000240303 MIM:614288; AllianceGenome:HGNC:30211 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 ACAD-11 Summary This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in kidney (RPKM 25.3), liver (RPKM 24.9) and 25 other tissues See more Orthologs mouse all
ACAD8, Official Symbol ACAD8provided by HGNC Official Full Name acyl-CoA dehydrogenase family member 8provided by HGNC Primary source HGNC:HGNC:87 See related Ensembl:ENSG00000151498 MIM:604773; AllianceGenome:HGNC:87 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 IBDH; ARC42; ACAD-8 Summary This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009] Expression Ubiquitous expression in thyroid (RPKM 16.8), prostate (RPKM 12.2) and 25 other tissues See more Orthologs mouse all
ACAD9, Official Symbol ACAD9provided by HGNC Official Full Name acyl-CoA dehydrogenase family member 9provided by HGNC Primary source HGNC:HGNC:21497 See related Ensembl:ENSG00000177646 MIM:611103; AllianceGenome:HGNC:21497 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 NPD002; MC1DN20 Summary This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010] Expression Ubiquitous expression in skin (RPKM 14.5), fat (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
ACADL, Official Symbol ACADLprovided by HGNC Official Full Name acyl-CoA dehydrogenase long chainprovided by HGNC Primary source HGNC:HGNC:88 See related Ensembl:ENSG00000115361 MIM:609576; AllianceGenome:HGNC:88 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 LCAD; ACAD4 Summary The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 10.1), fat (RPKM 9.6) and 14 other tissues See more Orthologs mouse all
ACADM, Official Symbol ACADMprovided by HGNC Official Full Name acyl-CoA dehydrogenase medium chainprovided by HGNC Primary source HGNC:HGNC:89 See related Ensembl:ENSG00000117054 MIM:607008; AllianceGenome:HGNC:89 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 MCAD; ACAD1; MCADH Summary This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 85.4), heart (RPKM 68.4) and 25 other tissues See more Orthologs mouse all
ACADS, Official Symbol ACADSprovided by HGNC Official Full Name acyl-CoA dehydrogenase short chainprovided by HGNC Primary source HGNC:HGNC:90 See related Ensembl:ENSG00000122971 MIM:606885; AllianceGenome:HGNC:90 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 SCAD; ACAD3 Summary This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014] Expression Broad expression in duodenum (RPKM 34.4), fat (RPKM 33.7) and 25 other tissues See more Orthologs mouse all
ACADSB, Official Symbol ACADSBprovided by HGNC Official Full Name acyl-CoA dehydrogenase short/branched chainprovided by HGNC Primary source HGNC:HGNC:91 See related Ensembl:ENSG00000196177 MIM:600301; AllianceGenome:HGNC:91 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 ACAD7; SBCAD; 2-MEBCAD Summary Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 72.3), kidney (RPKM 32.5) and 16 other tissues See more Orthologs mouse all
ACADVL, Official Symbol ACADVLprovided by HGNC Official Full Name acyl-CoA dehydrogenase very long chainprovided by HGNC Primary source HGNC:HGNC:92 See related Ensembl:ENSG00000072778 MIM:609575; AllianceGenome:HGNC:92 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 ACAD6; LCACD; VLCAD Summary The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 228.7), duodenum (RPKM 185.5) and 25 other tissues See more Orthologs mouse all
ACAN, Official Symbol ACANprovided by HGNC Official Full Name aggrecanprovided by HGNC Primary source HGNC:HGNC:319 See related Ensembl:ENSG00000157766 MIM:155760; AllianceGenome:HGNC:319 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 AGC1; SEDK; AGCAN; CSPG1; MSK16; CSPGCP; SSOAOD Summary This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 1.8), urinary bladder (RPKM 1.4) and 17 other tissues See more Orthologs mouse all
ACAP1, Official Symbol ACAP1provided by HGNC Official Full Name ArfGAP with coiled-coil, ankyrin repeat and PH domains 1provided by HGNC Primary source HGNC:HGNC:16467 See related Ensembl:ENSG00000072818 MIM:607763; AllianceGenome:HGNC:16467 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 CENTB1 Summary Predicted to enable GTPase activator activity and metal ion binding activity. Predicted to be involved in protein transport and regulation of catalytic activity. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 20.4), spleen (RPKM 16.9) and 24 other tissues See more Orthologs mouse all
ACAP2, Official Symbol ACAP2provided by HGNC Official Full Name ArfGAP with coiled-coil, ankyrin repeat and PH domains 2provided by HGNC Primary source HGNC:HGNC:16469 See related Ensembl:ENSG00000114331 MIM:607766; AllianceGenome:HGNC:16469 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 CENTB2; CNT-B2 Summary Enables GTPase activator activity. Acts upstream of or within actin filament-based process. Located in ruffle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 13.3), lymph node (RPKM 12.2) and 25 other tissues See more Orthologs mouse all
ACAP3, Official Symbol ACAP3provided by HGNC Official Full Name ArfGAP with coiled-coil, ankyrin repeat and PH domains 3provided by HGNC Primary source HGNC:HGNC:16754 See related Ensembl:ENSG00000131584 AllianceGenome:HGNC:16754 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 CENTB5 Summary Predicted to enable GTPase activator activity and metal ion binding activity. Predicted to be involved in regulation of catalytic activity. Predicted to act upstream of or within neuron migration and regulation of neuron projection development. Predicted to be located in growth cone. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 16.2), brain (RPKM 12.8) and 24 other tissues See more Orthologs mouse all
ACAT1, Official Symbol ACAT1provided by HGNC Official Full Name acetyl-CoA acetyltransferase 1provided by HGNC Primary source HGNC:HGNC:93 See related Ensembl:ENSG00000075239 MIM:607809; AllianceGenome:HGNC:93 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 T2; MAT; ACAT; THIL Summary This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009] Annotation information Note: ACAT1 (Gene ID: 38) and SOAT1 (Gene ID: 6646) share the ACAT1 symbol/alias in common. ACAT1 is a widely used alternative name for sterol O-acyltransferase 1 (SOAT1), which can be confused with the official symbol for ACAT1 (acetyl-CoA acetyltransferase 1, GeneID 38). [01 Jun 2018] Expression Broad expression in liver (RPKM 166.9), kidney (RPKM 164.2) and 24 other tissues See more Orthologs mouse all
ACAT2, Official Symbol ACAT2provided by HGNC Official Full Name acetyl-CoA acetyltransferase 2provided by HGNC Primary source HGNC:HGNC:94 See related Ensembl:ENSG00000120437 MIM:100678; AllianceGenome:HGNC:94 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 product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014] Annotation information Note: ACAT2 (Gene ID: 39) and SOAT2 (Gene ID: 8435) share the ACAT2 symbol/alias in common. ACAT2 is a widely used alternative name for sterol O-acyltransferase 2 (SOAT2), which can be confused with acetyl-CoA acetyltransferase 2 (ACAT2). [20 Jun 2018] Note: ACAT2 (GeneID 39) and SOAT2 (GeneID 8435) loci share the ACAT2 symbol/alias in common. ACAT2 is widely used alternative name for acyl-Coenzyme A: cholesterol acyltransferase 2 (SOAT2) conflicting with the official symbol for acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) (ACAT2). [13 Feb 2013] Expression Ubiquitous expression in liver (RPKM 42.3), brain (RPKM 30.7) and 24 other tissues See more Orthologs all
ACBD3, Official Symbol ACBD3provided by HGNC Official Full Name acyl-CoA binding domain containing 3provided by HGNC Primary source HGNC:HGNC:15453 See related Ensembl:ENSG00000182827 MIM:606809; AllianceGenome:HGNC:15453 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 PAP7; GCP60; GOCAP1; GOLPH1 Summary The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 19.9), esophagus (RPKM 18.2) and 25 other tissues See more Orthologs mouse all
ACBD3-AS1, Official Symbol ACBD3-AS1provided by HGNC Official Full Name ACBD3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40701 See related Ensembl:ENSG00000234478 AllianceGenome:HGNC:40701 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in thyroid (RPKM 5.3), esophagus (RPKM 5.1) and 25 other tissues See more
ACBD4, Official Symbol ACBD4provided by HGNC Official Full Name acyl-CoA binding domain containing 4provided by HGNC Primary source HGNC:HGNC:23337 See related Ensembl:ENSG00000181513 MIM:619968; AllianceGenome:HGNC:23337 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 HMFT0700 Summary This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in liver (RPKM 7.3), duodenum (RPKM 7.0) and 25 other tissues See more Orthologs all
ACBD5, Official Symbol ACBD5provided by HGNC Official Full Name acyl-CoA binding domain containing 5provided by HGNC Primary source HGNC:HGNC:23338 See related Ensembl:ENSG00000107897 MIM:616618; AllianceGenome:HGNC:23338 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 RDLKD Summary This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in brain (RPKM 6.3), kidney (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
ACBD6, Official Symbol ACBD6provided by HGNC Official Full Name acyl-CoA binding domain containing 6provided by HGNC Primary source HGNC:HGNC:23339 See related Ensembl:ENSG00000230124 MIM:616352; AllianceGenome:HGNC:23339 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 fatty-acyl-CoA binding activity and lipid binding activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 4.9), placenta (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
ACBD7, Official Symbol ACBD7provided by HGNC Official Full Name acyl-CoA binding domain containing 7provided by HGNC Primary source HGNC:HGNC:17715 See related Ensembl:ENSG00000176244 AllianceGenome:HGNC:17715 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 bA455B2.2 Summary Predicted to enable fatty-acyl-CoA binding activity and lipid binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 9.1), testis (RPKM 1.4) and 1 other tissue See more Orthologs mouse all
ACCS, Official Symbol ACCSprovided by HGNC Official Full Name 1-aminocyclopropane-1-carboxylate synthase homolog (inactive)provided by HGNC Primary source HGNC:HGNC:23989 See related Ensembl:ENSG00000110455 MIM:608405; AllianceGenome:HGNC:23989 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 ACS; PHACS Summary Enables identical protein binding activity. Predicted to be involved in biosynthetic process. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 11.2), gall bladder (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
ACCSL, Official Symbol ACCSLprovided by HGNC Official Full Name 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) likeprovided by HGNC Primary source HGNC:HGNC:34391 See related Ensembl:ENSG00000205126 AllianceGenome:HGNC:34391 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 catalytic activity and pyridoxal phosphate binding activity. Predicted to be involved in biosynthetic process. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
ACD, Official Symbol ACDprovided by HGNC Official Full Name ACD shelterin complex subunit and telomerase recruitment factorprovided by HGNC Primary source HGNC:HGNC:25070 See related Ensembl:ENSG00000102977 MIM:609377; AllianceGenome:HGNC:25070 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 PIP1; PTOP; TPP1; TINT1 Summary This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008] Annotation information Note: TPP1 (Gene ID: 1200) and ACD (Gene ID: 65057) share the TPP1 symbol/alias in common. TPP1 is a widely used alternative name for ACD, shelterin complex subunit and telomerase recruitment factor (ACD), which can be confused with the official symbol for TPP1 (tripeptidyl peptidase 1, GeneID 1200). [01 Jun 2018] Expression Ubiquitous expression in ovary (RPKM 8.8), testis (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
ACE, Official Symbol ACEprovided by HGNC Official Full Name angiotensin I converting enzymeprovided by HGNC Primary source HGNC:HGNC:2707 See related Ensembl:ENSG00000159640 MIM:106180; AllianceGenome:HGNC:2707 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 DCP; ACE1; DCP1; CD143 Summary This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process. Expression Biased expression in small intestine (RPKM 118.5), duodenum (RPKM 76.7) and 7 other tissues See more Orthologs mouse all
ACE2, Official Symbol ACE2provided by HGNC Official Full Name angiotensin converting enzyme 2provided by HGNC Primary source HGNC:HGNC:13557 See related Ensembl:ENSG00000130234 MIM:300335; AllianceGenome:HGNC:13557 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 ACEH Summary The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. ACE2 is known to be expressed in various human organs, and its organ- and cell-specific expression suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronavirus HCoV-NL63 and the human severe acute respiratory syndrome coronaviruses, SARS-CoV and SARS-CoV-2, the latter is the causative agent of coronavirus disease-2019 (COVID-19). Multiple splice variants have been found for this gene and the dACE2 (or MIRb-ACE2) splice variant has been found to be interferon inducible. [provided by RefSeq, Nov 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Biased expression in small intestine (RPKM 93.7), duodenum (RPKM 69.0) and 5 other tissues See more Orthologs mouse all
ACE3P, Official Symbol ACE3Pprovided by HGNC Official Full Name angiotensin I converting enzyme 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44365 See related Ensembl:ENSG00000224353 AllianceGenome:HGNC:44365 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 ACE3 Summary Predicted to be located in acrosomal vesicle. [provided by Alliance of Genome Resources, Apr 2022]
ACER1, Official Symbol ACER1provided by HGNC Official Full Name alkaline ceramidase 1provided by HGNC Primary source HGNC:HGNC:18356 See related Ensembl:ENSG00000167769 MIM:613491; AllianceGenome:HGNC:18356 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 ASAH3; ALKCDase1 Summary Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010] Expression Biased expression in skin (RPKM 20.7) and esophagus (RPKM 4.2) See more Orthologs mouse all
ACER2, Official Symbol ACER2provided by HGNC Official Full Name alkaline ceramidase 2provided by HGNC Primary source HGNC:HGNC:23675 See related Ensembl:ENSG00000177076 MIM:613492; AllianceGenome:HGNC:23675 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 ASAH3L; ALKCDase2 Summary The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010] Expression Biased expression in stomach (RPKM 29.1), urinary bladder (RPKM 17.8) and 8 other tissues See more Orthologs mouse all
ACER3, Official Symbol ACER3provided by HGNC Official Full Name alkaline ceramidase 3provided by HGNC Primary source HGNC:HGNC:16066 See related Ensembl:ENSG00000078124 MIM:617036; AllianceGenome:HGNC:16066 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 APHC; PHCA; PLDECO Summary Enables N-acylsphingosine amidohydrolase activity and metal ion binding activity. Involved in several processes, including myelination; positive regulation of cell population proliferation; and sphingolipid metabolic process. Is integral component of Golgi membrane and integral component of endoplasmic reticulum membrane. Biomarker of hepatocellular carcinoma and non-alcoholic steatohepatitis. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 8.3), brain (RPKM 5.5) and 24 other tissues See more Orthologs mouse all
ACHE, Official Symbol ACHEprovided by HGNC Official Full Name acetylcholinesterase (Cartwright blood group)provided by HGNC Primary source HGNC:HGNC:108 See related Ensembl:ENSG00000087085 MIM:100740; AllianceGenome:HGNC:108 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 YT; ACEE; ARACHE; N-ACHE Summary Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. AChE activity may constitute a sensitive biomarker of RBC ageing in vivo, and thus, may be of aid in understanding the effects of transfusion[provided by RefSeq, Sep 2019] Expression Broad expression in bone marrow (RPKM 4.6), small intestine (RPKM 3.5) and 22 other tissues See more Orthologs mouse all
ACIN1, Official Symbol ACIN1provided by HGNC Official Full Name apoptotic chromatin condensation inducer 1provided by HGNC Primary source HGNC:HGNC:17066 See related Ensembl:ENSG00000100813 MIM:604562; AllianceGenome:HGNC:17066 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 ACN; ACINUS; fSAP152 Summary Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in bone marrow (RPKM 24.7), spleen (RPKM 23.3) and 25 other tissues See more Orthologs mouse all
ACKR1, Official Symbol ACKR1provided by HGNC Official Full Name atypical chemokine receptor 1 (Duffy blood group)provided by HGNC Primary source HGNC:HGNC:4035 See related Ensembl:ENSG00000213088 MIM:613665; AllianceGenome:HGNC:4035 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 FY; Dfy; GPD; DARC; GpFy; CCBP1; CD234; WBCQ1; DARC/ACKR1 Summary The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 23.4), urinary bladder (RPKM 20.5) and 22 other tissues See more Orthologs mouse all
ACKR2, Official Symbol ACKR2provided by HGNC Official Full Name atypical chemokine receptor 2provided by HGNC Primary source HGNC:HGNC:1565 See related Ensembl:ENSG00000144648 MIM:602648; AllianceGenome:HGNC:1565 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 D6; hD6; CCR9; CCBP2; CCR10; CMKBR9 Summary This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 6.7), liver (RPKM 1.2) and 9 other tissues See more Orthologs mouse all
ACKR3, Official Symbol ACKR3provided by HGNC Official Full Name atypical chemokine receptor 3provided by HGNC Primary source HGNC:HGNC:23692 See related Ensembl:ENSG00000144476 MIM:610376; AllianceGenome:HGNC:23692 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 RDC1; CXCR7; RDC-1; CMKOR1; CXC-R7; CXCR-7; GPR159 Summary This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 50.1), urinary bladder (RPKM 36.9) and 22 other tissues See more Orthologs mouse all
ACKR4, Official Symbol ACKR4provided by HGNC Official Full Name atypical chemokine receptor 4provided by HGNC Primary source HGNC:HGNC:1611 See related Ensembl:ENSG00000129048 MIM:606065; AllianceGenome:HGNC:1611 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 PPR1; CCBP2; CCR10; CCR11; CCRL1; VSHK1; CCR-11; CKR-11; CCX CKR; CCX-CKR; CC-CKR-11 Summary The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013] Expression Broad expression in duodenum (RPKM 8.4), small intestine (RPKM 7.1) and 16 other tissues See more Orthologs mouse all
ACLY, Official Symbol ACLYprovided by HGNC Official Full Name ATP citrate lyaseprovided by HGNC Primary source HGNC:HGNC:115 See related Ensembl:ENSG00000131473 MIM:108728; AllianceGenome:HGNC:115 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 ACL; ATPCL; CLATP Summary ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in prostate (RPKM 37.3), kidney (RPKM 29.2) and 25 other tissues See more Orthologs mouse all