psui3905/ncbi_genes_summary huggingface dataset:
AKAP5, Official Symbol AKAP5provided by HGNC Official Full Name A-kinase anchoring protein 5provided by HGNC Primary source HGNC:HGNC:375 See related Ensembl:ENSG00000179841 MIM:604688; AllianceGenome:HGNC:375 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 H21; AKAP75; AKAP79 Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 10.3), colon (RPKM 3.6) and 10 other tissues See more Orthologs mouse all
AKAP6, Official Symbol AKAP6provided by HGNC Official Full Name A-kinase anchoring protein 6provided by HGNC Primary source HGNC:HGNC:376 See related Ensembl:ENSG00000151320 MIM:604691; AllianceGenome:HGNC:376 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 ADAP6; PRKA6; mAKAP; ADAP100; AKAP100 Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 9.8), heart (RPKM 7.6) and 12 other tissues See more Orthologs mouse all
AKAP7, Official Symbol AKAP7provided by HGNC Official Full Name A-kinase anchoring protein 7provided by HGNC Primary source HGNC:HGNC:377 See related Ensembl:ENSG00000118507 MIM:604693; AllianceGenome:HGNC:377 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 AKAP15; AKAP18 Summary This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011] Expression Broad expression in adrenal (RPKM 12.1), duodenum (RPKM 4.2) and 23 other tissues See more Orthologs mouse all
AKAP8, Official Symbol AKAP8provided by HGNC Official Full Name A-kinase anchoring protein 8provided by HGNC Primary source HGNC:HGNC:378 See related Ensembl:ENSG00000105127 MIM:604692; AllianceGenome:HGNC:378 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 AKAP-8; AKAP95; AKAP 95; AKAP-95 Summary This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011] Expression Ubiquitous expression in bone marrow (RPKM 13.0), spleen (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
AKAP8L, Official Symbol AKAP8Lprovided by HGNC Official Full Name A-kinase anchoring protein 8 likeprovided by HGNC Primary source HGNC:HGNC:29857 See related Ensembl:ENSG00000011243 MIM:609475; AllianceGenome:HGNC:29857 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 HA95; HAP95; NAKAP; NAKAP95 Summary Enables histone deacetylase binding activity and lamin binding activity. Involved in several processes, including mitotic chromosome condensation; regulation of histone modification; and regulation of mRNA export from nucleus. Located in chromatin; cytoplasm; and nuclear lumen. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 21.2), testis (RPKM 18.0) and 25 other tissues See more Orthologs mouse all
AKAP8P1, Official Symbol AKAP8P1provided by HGNC Official Full Name A-kinase anchoring protein 8 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49758 See related Ensembl:ENSG00000234146 AllianceGenome:HGNC:49758 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AKAP9, Official Symbol AKAP9provided by HGNC Official Full Name A-kinase anchoring protein 9provided by HGNC Primary source HGNC:HGNC:379 See related Ensembl:ENSG00000127914 MIM:604001; AllianceGenome:HGNC:379 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 LQT11; PRKA9; AKAP-9; CG-NAP; YOTIAO; AKAP350; AKAP450; PPP1R45; HYPERION; MU-RMS-40.16A Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in colon (RPKM 12.3), small intestine (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
AKIP1, Official Symbol AKIP1provided by HGNC Official Full Name A-kinase interacting protein 1provided by HGNC Primary source HGNC:HGNC:1170 See related Ensembl:ENSG00000166452 MIM:609191; AllianceGenome:HGNC:1170 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 BCA3; C11orf17 Summary This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in thyroid (RPKM 4.3), adrenal (RPKM 4.1) and 25 other tissues See more Orthologs mouse all
AKIRIN1, Official Symbol AKIRIN1provided by HGNC Official Full Name akirin 1provided by HGNC Primary source HGNC:HGNC:25744 See related Ensembl:ENSG00000174574 MIM:615164; AllianceGenome:HGNC:25744 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 STRF2; C1orf108 Summary Predicted to enable transcription coregulator activity. Predicted to be involved in several processes, including myoblast migration involved in skeletal muscle regeneration; negative regulation of satellite cell differentiation; and positive regulation of lamellipodium assembly. Located in nuclear membrane and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 41.1), bone marrow (RPKM 25.3) and 25 other tissues See more Orthologs mouse all
AKIRIN1P1, Official Symbol AKIRIN1P1provided by HGNC Official Full Name akirin 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:50794 See related Ensembl:ENSG00000257786 AllianceGenome:HGNC:50794 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AKIRIN1P2, Official Symbol AKIRIN1P2provided by HGNC Official Full Name akirin 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:50797 See related AllianceGenome:HGNC:50797 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AKIRIN2, Official Symbol AKIRIN2provided by HGNC Official Full Name akirin 2provided by HGNC Primary source HGNC:HGNC:21407 See related Ensembl:ENSG00000135334 MIM:615165; AllianceGenome:HGNC:21407 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 FBI1; C6orf166; dJ486L4.2 Summary Enables enzyme binding activity and identical protein binding activity. Predicted to be involved in positive regulation of innate immune response and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of interleukin-6 production and response to lipopolysaccharide. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 25.3), spleen (RPKM 21.1) and 24 other tissues See more Orthologs mouse all
AKNA, Official Symbol AKNAprovided by HGNC Official Full Name AT-hook transcription factorprovided by HGNC Primary source HGNC:HGNC:24108 See related Ensembl:ENSG00000106948 MIM:605729; AllianceGenome:HGNC:24108 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 DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in centrosome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 28.7), lymph node (RPKM 23.1) and 20 other tissues See more Orthologs mouse all
AKNAD1, Official Symbol AKNAD1provided by HGNC Official Full Name AKNA domain containing 1provided by HGNC Primary source HGNC:HGNC:28398 See related Ensembl:ENSG00000162641 AllianceGenome:HGNC:28398 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 C1orf62 Summary This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Expression Restricted expression toward testis (RPKM 5.4) See more Orthologs mouse all
AKR1A1, Official Symbol AKR1A1provided by HGNC Official Full Name aldo-keto reductase family 1 member A1provided by HGNC Primary source HGNC:HGNC:380 See related Ensembl:ENSG00000117448 MIM:103830; AllianceGenome:HGNC:380 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 ALR; ARM; DD3; ALDR1; HEL-S-6 Summary This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in kidney (RPKM 113.8), duodenum (RPKM 66.6) and 25 other tissues See more Orthologs mouse all
AKR1B1, Official Symbol AKR1B1provided by HGNC Official Full Name aldo-keto reductase family 1 member Bprovided by HGNC Primary source HGNC:HGNC:381 See related Ensembl:ENSG00000085662 MIM:103880; AllianceGenome:HGNC:381 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 AR; ADR; ALR2; ALDR1 Summary This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009] Expression Biased expression in adrenal (RPKM 1087.3), placenta (RPKM 120.6) and 2 other tissues See more Orthologs mouse all
AKR1B10, Official Symbol AKR1B10provided by HGNC Official Full Name aldo-keto reductase family 1 member B10provided by HGNC Primary source HGNC:HGNC:382 See related Ensembl:ENSG00000198074 MIM:604707; AllianceGenome:HGNC:382 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 HIS; HSI; ARL1; ARL-1; ALDRLn; AKR1B11; AKR1B12 Summary This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008] Expression Biased expression in duodenum (RPKM 190.1), stomach (RPKM 138.2) and 4 other tissues See more Orthologs all
AKR1B10P2, Official Symbol AKR1B10P2provided by HGNC Official Full Name aldo-keto reductase family 1 member B10 pseudogene 2provided by HGNC Primary source HGNC:HGNC:45063 See related Ensembl:ENSG00000263355 AllianceGenome:HGNC:45063 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AKR1B15, Official Symbol AKR1B15provided by HGNC Official Full Name aldo-keto reductase family 1 member B15provided by HGNC Primary source HGNC:HGNC:37281 See related Ensembl:ENSG00000227471 MIM:616336; AllianceGenome:HGNC:37281 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 AKR1B10L; AKR1R1B7; AKR1B10L, AK1R1B7 Summary Enables estradiol 17-beta-dehydrogenase activity. Predicted to be involved in estrogen biosynthetic process. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in stomach (RPKM 12.1), duodenum (RPKM 9.7) and 4 other tissues See more
AKR1B1P1, Official Symbol AKR1B1P1provided by HGNC Official Full Name aldehyde reductase family 1 member B1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:420 See related Ensembl:ENSG00000229991 AllianceGenome:HGNC:420 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 ALDRL1
AKR1B1P4, Official Symbol AKR1B1P4provided by HGNC Official Full Name aldo-keto reductase family 1 member B1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:423 See related AllianceGenome:HGNC:423 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 ALDRL4
AKR1B1P5, Official Symbol AKR1B1P5provided by HGNC Official Full Name aldo-keto reductase family 1 member B1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:20002 See related AllianceGenome:HGNC:20002 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 AKR1B1P
AKR1C1, Official Symbol AKR1C1provided by HGNC Official Full Name aldo-keto reductase family 1 member C1provided by HGNC Primary source HGNC:HGNC:384 See related Ensembl:ENSG00000187134 MIM:600449; AllianceGenome:HGNC:384 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 C9; DD1; DDH; DDH1; H-37; HBAB; MBAB; HAKRC; DD1/DD2; 2-ALPHA-HSD; 20-ALPHA-HSD Summary This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 85.2), fat (RPKM 74.3) and 13 other tissues See more Orthologs all
AKR1C2, Official Symbol AKR1C2provided by HGNC Official Full Name aldo-keto reductase family 1 member C2provided by HGNC Primary source HGNC:HGNC:385 See related Ensembl:ENSG00000151632 MIM:600450; AllianceGenome:HGNC:385 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 DD; DD2; TDD; BABP; DD-2; DDH2; HBAB; HAKRD; MCDR2; SRXY8; DD/BABP; AKR1C-pseudo Summary This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Biased expression in fat (RPKM 84.8), liver (RPKM 37.2) and 10 other tissues See more
AKR1C3, Official Symbol AKR1C3provided by HGNC Official Full Name aldo-keto reductase family 1 member C3provided by HGNC Primary source HGNC:HGNC:386 See related Ensembl:ENSG00000196139 MIM:603966; AllianceGenome:HGNC:386 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 DD3; DDX; PGFS; HAKRB; HAKRe; HA1753; HSD17B5; hluPGFS Summary This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Broad expression in duodenum (RPKM 122.7), gall bladder (RPKM 91.1) and 15 other tissues See more Orthologs all
AKR1C4, Official Symbol AKR1C4provided by HGNC Official Full Name aldo-keto reductase family 1 member C4provided by HGNC Primary source HGNC:HGNC:387 See related Ensembl:ENSG00000198610 MIM:600451; AllianceGenome:HGNC:387 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 C11; CDR; DD4; CHDR; DD-4; HAKRA; 3-alpha-HSD Summary This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] Expression Restricted expression toward liver (RPKM 165.8) See more Orthologs all
AKR1C7P, Official Symbol AKR1C7Pprovided by HGNC Official Full Name aldo-keto reductase family 1 member C7, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44681 See related Ensembl:ENSG00000215267 AllianceGenome:HGNC:44681 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AKR1D1, Official Symbol AKR1D1provided by HGNC Official Full Name aldo-keto reductase family 1 member D1provided by HGNC Primary source HGNC:HGNC:388 See related Ensembl:ENSG00000122787 MIM:604741; AllianceGenome:HGNC:388 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 CBAS2; SRD5B1; 3o5bred Summary The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010] Expression Restricted expression toward liver (RPKM 96.8) See more Orthologs mouse all
AKR1E2, Official Symbol AKR1E2provided by HGNC Official Full Name aldo-keto reductase family 1 member E2provided by HGNC Primary source HGNC:HGNC:23437 See related Ensembl:ENSG00000165568 MIM:617451; AllianceGenome:HGNC:23437 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 TAKR; hTSP; HTSP1; htAKR; AKRDC1; AKR1CL2; LoopADR Summary The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Expression Biased expression in testis (RPKM 4.3), thyroid (RPKM 0.6) and 8 other tissues See more Orthologs mouse all
AKR7A2, Official Symbol AKR7A2provided by HGNC Official Full Name aldo-keto reductase family 7 member A2provided by HGNC Primary source HGNC:HGNC:389 See related Ensembl:ENSG00000053371 MIM:603418; AllianceGenome:HGNC:389 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 AFAR; AKR7; AFAR1; AFB1-AR1 Summary The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in kidney (RPKM 26.6), duodenum (RPKM 20.0) and 25 other tissues See more Orthologs mouse all
AKR7A2P1, Official Symbol AKR7A2P1provided by HGNC Official Full Name AKR7A2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:24062 See related AllianceGenome:HGNC:24062 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AFARP1
AKR7A3, Official Symbol AKR7A3provided by HGNC Official Full Name aldo-keto reductase family 7 member A3provided by HGNC Primary source HGNC:HGNC:390 See related Ensembl:ENSG00000162482 MIM:608477; AllianceGenome:HGNC:390 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 AFAR2 Summary Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004] Expression Biased expression in duodenum (RPKM 81.0), small intestine (RPKM 50.3) and 6 other tissues See more Orthologs all
AKR7L, Official Symbol AKR7Lprovided by HGNC Official Full Name aldo-keto reductase family 7 like (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:24056 See related Ensembl:ENSG00000211454 MIM:608478; AllianceGenome:HGNC:24056 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 AFAR3; AKR7A4; AFB1-AR3; AFB1-AR 3 Summary This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a segregating pseudogene, where some individuals have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Feb 2017] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Biased expression in duodenum (RPKM 22.1), small intestine (RPKM 15.8) and 5 other tissues See more Orthologs all
AKT1, Official Symbol AKT1provided by HGNC Official Full Name AKT serine/threonine kinase 1provided by HGNC Primary source HGNC:HGNC:391 See related Ensembl:ENSG00000142208 MIM:164730; AllianceGenome:HGNC:391 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 AKT; PKB; RAC; PRKBA; PKB-ALPHA; RAC-ALPHA Summary This gene encodes one of the three members of the human AKT serine-threonine protein kinase family which are often referred to as protein kinase B alpha, beta, and gamma. These highly similar AKT proteins all have an N-terminal pleckstrin homology domain, a serine/threonine-specific kinase domain and a C-terminal regulatory domain. These proteins are phosphorylated by phosphoinositide 3-kinase (PI3K). AKT/PI3K forms a key component of many signalling pathways that involve the binding of membrane-bound ligands such as receptor tyrosine kinases, G-protein coupled receptors, and integrin-linked kinase. These AKT proteins therefore regulate a wide variety of cellular functions including cell proliferation, survival, metabolism, and angiogenesis in both normal and malignant cells. AKT proteins are recruited to the cell membrane by phosphatidylinositol 3,4,5-trisphosphate (PIP3) after phosphorylation of phosphatidylinositol 4,5-bisphosphate (PIP2) by PI3K. Subsequent phosphorylation of both threonine residue 308 and serine residue 473 is required for full activation of the AKT1 protein encoded by this gene. Phosphorylation of additional residues also occurs, for example, in response to insulin growth factor-1 and epidermal growth factor. Protein phosphatases act as negative regulators of AKT proteins by dephosphorylating AKT or PIP3. The PI3K/AKT signalling pathway is crucial for tumor cell survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating AKT1 which then phosphorylates and inactivates components of the apoptotic machinery. AKT proteins also participate in the mammalian target of rapamycin (mTOR) signalling pathway which controls the assembly of the eukaryotic translation initiation factor 4F (eIF4E) complex and this pathway, in addition to responding to extracellular signals from growth factors and cytokines, is disregulated in many cancers. Mutations in this gene are associated with multiple types of cancer and excessive tissue growth including Proteus syndrome and Cowden syndrome 6, and breast, colorectal, and ovarian cancers. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020] Expression Ubiquitous expression in prostate (RPKM 26.1), lung (RPKM 25.1) and 25 other tissues See more Orthologs mouse all
AKT1S1, Official Symbol AKT1S1provided by HGNC Official Full Name AKT1 substrate 1provided by HGNC Primary source HGNC:HGNC:28426 See related Ensembl:ENSG00000204673 MIM:610221; AllianceGenome:HGNC:28426 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 Lobe; PRAS40 Summary AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in fat (RPKM 12.1), kidney (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
AKT2, Official Symbol AKT2provided by HGNC Official Full Name AKT serine/threonine kinase 2provided by HGNC Primary source HGNC:HGNC:392 See related Ensembl:ENSG00000105221 MIM:164731; AllianceGenome:HGNC:392 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 PKBB; PRKBB; HIHGHH; PKBBETA; RAC-BETA Summary This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019] Expression Ubiquitous expression in thyroid (RPKM 30.9), fat (RPKM 28.8) and 25 other tissues See more Orthologs mouse all
AKT3, Official Symbol AKT3provided by HGNC Official Full Name AKT serine/threonine kinase 3provided by HGNC Primary source HGNC:HGNC:393 See related Ensembl:ENSG00000117020 MIM:611223; AllianceGenome:HGNC:393 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 MPPH; PKBG; MPPH2; PRKBG; STK-2; PKB-GAMMA; RAC-gamma; RAC-PK-gamma Summary The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 16.6), ovary (RPKM 12.6) and 22 other tissues See more Orthologs mouse all
AKT3-IT1, Official Symbol AKT3-IT1provided by HGNC Official Full Name AKT3 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41304 See related Ensembl:ENSG00000228939 AllianceGenome:HGNC:41304 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AKTIP, Official Symbol AKTIPprovided by HGNC Official Full Name AKT interacting proteinprovided by HGNC Primary source HGNC:HGNC:16710 See related Ensembl:ENSG00000166971 MIM:608483; AllianceGenome:HGNC:16710 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 FT1; FTS Summary The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 23.1), brain (RPKM 22.1) and 25 other tissues See more Orthologs mouse all
ALAD, Official Symbol ALADprovided by HGNC Official Full Name aminolevulinate dehydrataseprovided by HGNC Primary source HGNC:HGNC:395 See related Ensembl:ENSG00000148218 MIM:125270; AllianceGenome:HGNC:395 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 PBGS; ALADH Summary The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in adrenal (RPKM 60.0), liver (RPKM 56.7) and 25 other tissues See more Orthologs mouse all
ALAS1, Official Symbol ALAS1provided by HGNC Official Full Name 5'-aminolevulinate synthase 1provided by HGNC Primary source HGNC:HGNC:396 See related Ensembl:ENSG00000023330 MIM:125290; AllianceGenome:HGNC:396 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 ALAS; MIG4; ALAS3; ALASH; ALAS-H Summary This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] Expression Biased expression in adrenal (RPKM 297.6), liver (RPKM 180.6) and 9 other tissues See more Orthologs mouse all
ALAS2, Official Symbol ALAS2provided by HGNC Official Full Name 5'-aminolevulinate synthase 2provided by HGNC Primary source HGNC:HGNC:397 See related Ensembl:ENSG00000158578 MIM:301300; AllianceGenome:HGNC:397 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 ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E; SIDBA1 Summary The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Restricted expression toward bone marrow (RPKM 181.6) See more Orthologs mouse all
ALB, Official Symbol ALBprovided by HGNC Official Full Name albuminprovided by HGNC Primary source HGNC:HGNC:399 See related Ensembl:ENSG00000163631 MIM:103600; AllianceGenome:HGNC:399 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 HSA; FDAHT; PRO0883; PRO0903; PRO1341 Summary This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis. Expression Restricted expression toward liver (RPKM 41385.4) See more Orthologs mouse all
ALCAM, Official Symbol ALCAMprovided by HGNC Official Full Name activated leukocyte cell adhesion moleculeprovided by HGNC Primary source HGNC:HGNC:400 See related Ensembl:ENSG00000170017 MIM:601662; AllianceGenome:HGNC:400 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 MEMD; CD166 Summary This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011] Expression Broad expression in lung (RPKM 33.7), brain (RPKM 28.3) and 24 other tissues See more Orthologs mouse all
ALDH16A1, Official Symbol ALDH16A1provided by HGNC Official Full Name aldehyde dehydrogenase 16 family member A1provided by HGNC Primary source HGNC:HGNC:28114 See related Ensembl:ENSG00000161618 MIM:613358; AllianceGenome:HGNC:28114 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 aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] Expression Ubiquitous expression in spleen (RPKM 10.1), duodenum (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
ALDH18A1, Official Symbol ALDH18A1provided by HGNC Official Full Name aldehyde dehydrogenase 18 family member A1provided by HGNC Primary source HGNC:HGNC:9722 See related Ensembl:ENSG00000059573 MIM:138250; AllianceGenome:HGNC:9722 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 GSAS; P5CS; PYCS; SPG9; ADCL3; SPG9A; SPG9B; ARCL3A Summary This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 41.4), small intestine (RPKM 34.7) and 25 other tissues See more Orthologs mouse all
ALDH1A1, Official Symbol ALDH1A1provided by HGNC Official Full Name aldehyde dehydrogenase 1 family member A1provided by HGNC Primary source HGNC:HGNC:402 See related Ensembl:ENSG00000165092 MIM:100640; AllianceGenome:HGNC:402 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 ALDC; ALDH1; HEL-9; HEL12; PUMB1; ALDH11; RALDH1; ALDH-E1; HEL-S-53e Summary The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011] Expression Broad expression in liver (RPKM 321.0), duodenum (RPKM 249.1) and 18 other tissues See more Orthologs all