psui3905/ncbi_genes_summary huggingface dataset:
MCM2, Official Symbol MCM2provided by HGNC Official Full Name minichromosome maintenance complex component 2provided by HGNC Primary source HGNC:HGNC:6944 See related Ensembl:ENSG00000073111 MIM:116945; AllianceGenome:HGNC:6944 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 BM28; CCNL1; CDCL1; cdc19; DFNA70; D3S3194; MITOTIN Summary The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012] Expression Broad expression in bone marrow (RPKM 27.3), lymph node (RPKM 14.9) and 23 other tissues See more Orthologs mouse all
MCM3, Official Symbol MCM3provided by HGNC Official Full Name minichromosome maintenance complex component 3provided by HGNC Primary source HGNC:HGNC:6945 See related Ensembl:ENSG00000112118 MIM:602693; AllianceGenome:HGNC:6945 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 HCC5; P1.h; RLFB; P1-MCM3 Summary The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with and is acetylated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2018] Expression Ubiquitous expression in lymph node (RPKM 33.0), appendix (RPKM 23.5) and 24 other tissues See more Orthologs mouse all
MCM3AP, Official Symbol MCM3APprovided by HGNC Official Full Name minichromosome maintenance complex component 3 associated proteinprovided by HGNC Primary source HGNC:HGNC:6946 See related Ensembl:ENSG00000160294 MIM:603294; AllianceGenome:HGNC:6946 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 GANP; SAC3; MAP80; PNRIID Summary The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in lymph node (RPKM 12.6), spleen (RPKM 12.4) and 25 other tissues See more Orthologs mouse all
MCM3AP-AS1, Official Symbol MCM3AP-AS1provided by HGNC Official Full Name MCM3AP antisense RNA 1provided by HGNC Primary source HGNC:HGNC:16417 See related Ensembl:ENSG00000215424 AllianceGenome:HGNC:16417 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C21orf85; MCM3APAS; MCM3AP-AS; MCM3APASB; NCRNA00031 Expression Ubiquitous expression in lymph node (RPKM 2.9), skin (RPKM 2.8) and 25 other tissues See more
MCM4, Official Symbol MCM4provided by HGNC Official Full Name minichromosome maintenance complex component 4provided by HGNC Primary source HGNC:HGNC:6947 See related Ensembl:ENSG00000104738 MIM:602638; AllianceGenome:HGNC:6947 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 NKCD; CDC21; CDC54; IMD54; NKGCD; hCdc21; P1-CDC21 Summary The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 21.3), bone marrow (RPKM 19.5) and 24 other tissues See more Orthologs mouse all
MCM5, Official Symbol MCM5provided by HGNC Official Full Name minichromosome maintenance complex component 5provided by HGNC Primary source HGNC:HGNC:6948 See related Ensembl:ENSG00000100297 MIM:602696; AllianceGenome:HGNC:6948 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 CDC46; MGORS8; P1-CDC46 Summary The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 35.9), lymph node (RPKM 27.6) and 24 other tissues See more Orthologs mouse all
MCM6, Official Symbol MCM6provided by HGNC Official Full Name minichromosome maintenance complex component 6provided by HGNC Primary source HGNC:HGNC:6949 See related Ensembl:ENSG00000076003 MIM:601806; AllianceGenome:HGNC:6949 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 Mis5; P105MCM; MCG40308 Summary The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012] Expression Broad expression in lymph node (RPKM 19.9), bone marrow (RPKM 13.7) and 24 other tissues See more Orthologs mouse all
MCM7, Official Symbol MCM7provided by HGNC Official Full Name minichromosome maintenance complex component 7provided by HGNC Primary source HGNC:HGNC:6950 See related Ensembl:ENSG00000166508 MIM:600592; AllianceGenome:HGNC:6950 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 MCM2; CDC47; P85MCM; P1CDC47; PNAS146; PPP1R104; P1.1-MCM3 Summary The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 53.3), lymph node (RPKM 33.2) and 24 other tissues See more Orthologs mouse all
MCM8, Official Symbol MCM8provided by HGNC Official Full Name minichromosome maintenance 8 homologous recombination repair factorprovided by HGNC Primary source HGNC:HGNC:16147 See related Ensembl:ENSG00000125885 MIM:608187; AllianceGenome:HGNC:16147 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 POF10; C20orf154; dJ967N21.5 Summary The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013] Expression Broad expression in testis (RPKM 3.9), lymph node (RPKM 1.8) and 24 other tissues See more Orthologs mouse all
MCM8-AS1, Official Symbol MCM8-AS1provided by HGNC Official Full Name MCM8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51230 See related Ensembl:ENSG00000278719 AllianceGenome:HGNC:51230 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 Biased expression in testis (RPKM 1.8) and skin (RPKM 0.1) See more
MCM9, Official Symbol MCM9provided by HGNC Official Full Name minichromosome maintenance 9 homologous recombination repair factorprovided by HGNC Primary source HGNC:HGNC:21484 See related Ensembl:ENSG00000111877 MIM:610098; AllianceGenome:HGNC:21484 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 ODG4; MCMDC1; C6orf61; dJ329L24.1; dJ329L24.3 Summary The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in thyroid (RPKM 3.1), lymph node (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
MCMBP, Official Symbol MCMBPprovided by HGNC Official Full Name minichromosome maintenance complex binding proteinprovided by HGNC Primary source HGNC:HGNC:25782 See related Ensembl:ENSG00000197771 MIM:610909; AllianceGenome:HGNC:25782 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 MCM-BP; C10orf119 Summary This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in placenta (RPKM 15.0), appendix (RPKM 14.1) and 25 other tissues See more Orthologs mouse all
MCMDC2, Official Symbol MCMDC2provided by HGNC Official Full Name minichromosome maintenance domain containing 2provided by HGNC Primary source HGNC:HGNC:26368 See related Ensembl:ENSG00000178460 MIM:617545; AllianceGenome:HGNC:26368 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 C8orf45 Summary Predicted to enable ATP binding activity and DNA binding activity. Predicted to be involved in double-strand break repair via break-induced replication. Predicted to act upstream of or within gamete generation and meiosis I cell cycle process. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 6.3), ovary (RPKM 2.7) and 24 other tissues See more Orthologs mouse all
MCOLN1, Official Symbol MCOLN1provided by HGNC Official Full Name mucolipin TRP cation channel 1provided by HGNC Primary source HGNC:HGNC:13356 See related Ensembl:ENSG00000090674 MIM:605248; AllianceGenome:HGNC:13356 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 ML1; ML4; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1 Summary This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in spleen (RPKM 28.6), adrenal (RPKM 14.9) and 24 other tissues See more Orthologs mouse all
MCOLN2, Official Symbol MCOLN2provided by HGNC Official Full Name mucolipin TRP cation channel 2provided by HGNC Primary source HGNC:HGNC:13357 See related Ensembl:ENSG00000153898 MIM:607399; AllianceGenome:HGNC:13357 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 TRPML2; TRP-ML2 Summary Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009] Expression Broad expression in lymph node (RPKM 3.6), spleen (RPKM 2.0) and 14 other tissues See more Orthologs mouse all
MCOLN3, Official Symbol MCOLN3provided by HGNC Official Full Name mucolipin TRP cation channel 3provided by HGNC Primary source HGNC:HGNC:13358 See related Ensembl:ENSG00000055732 MIM:607400; AllianceGenome:HGNC:13358 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 TRPML3; TRP-ML3 Summary This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Expression Biased expression in adrenal (RPKM 27.0), skin (RPKM 3.3) and 5 other tissues See more Orthologs mouse all
MCPH1, Official Symbol MCPH1provided by HGNC Official Full Name microcephalin 1provided by HGNC Primary source HGNC:HGNC:6954 See related Ensembl:ENSG00000147316 MIM:607117; AllianceGenome:HGNC:6954 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 MCT; BRIT1 Summary This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Expression Ubiquitous expression in bone marrow (RPKM 1.3), testis (RPKM 1.1) and 25 other tissues See more Orthologs mouse all
MCRIP1, Official Symbol MCRIP1provided by HGNC Official Full Name MAPK regulated corepressor interacting protein 1provided by HGNC Primary source HGNC:HGNC:28007 See related Ensembl:ENSG00000225663 MIM:616514; AllianceGenome:HGNC:28007 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 GRAN2; MCRIP; FAM195B Summary Involved in regulation of epithelial to mesenchymal transition. Located in cytoplasmic stress granule and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 31.8), fat (RPKM 25.2) and 25 other tissues See more Orthologs mouse all
MCRIP2, Official Symbol MCRIP2provided by HGNC Official Full Name MAPK regulated corepressor interacting protein 2provided by HGNC Primary source HGNC:HGNC:14142 See related Ensembl:ENSG00000172366 AllianceGenome:HGNC:14142 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 FAM195A; C16orf14; c349E10.1 Summary Located in cytoplasmic stress granule and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 20.5), duodenum (RPKM 19.9) and 24 other tissues See more Orthologs mouse all
MCRIP2P2, Official Symbol MCRIP2P2provided by HGNC Official Full Name MAPK regulated corepressor interacting protein 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:49631 See related Ensembl:ENSG00000270920 AllianceGenome:HGNC:49631 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 FAM195DP; MCRIP2P1
MCRS1, Official Symbol MCRS1provided by HGNC Official Full Name microspherule protein 1provided by HGNC Primary source HGNC:HGNC:6960 See related Ensembl:ENSG00000187778 MIM:609504; AllianceGenome:HGNC:6960 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 P78; MCRS2; MSP58; INO80Q; ICP22BP Summary Enables RNA binding activity and telomerase inhibitor activity. Involved in histone H4 acetylation; negative regulation of DNA metabolic process; and positive regulation of protein localization to nucleolus. Located in cytoplasm; nucleolus; and nucleoplasm. Part of Ino80 complex; MLL1 complex; and histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 7.8), thyroid (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
MCTP1, Official Symbol MCTP1provided by HGNC Official Full Name multiple C2 and transmembrane domain containing 1provided by HGNC Primary source HGNC:HGNC:26183 See related Ensembl:ENSG00000175471 MIM:616296; AllianceGenome:HGNC:26183 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables calcium ion binding activity. Predicted to be involved in several processes, including modulation of chemical synaptic transmission; negative regulation of endocytosis; and negative regulation of response to oxidative stress. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 4.3), fat (RPKM 3.5) and 22 other tissues See more Orthologs mouse all
MCTP2, Official Symbol MCTP2provided by HGNC Official Full Name multiple C2 and transmembrane domain containing 2provided by HGNC Primary source HGNC:HGNC:25636 See related Ensembl:ENSG00000140563 MIM:616297; AllianceGenome:HGNC:25636 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables calcium ion binding activity. Predicted to be involved in regulation of neurotransmitter secretion. Located in cytosol and nucleoplasm. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 5.6), placenta (RPKM 4.8) and 21 other tissues See more Orthologs mouse all
MCTS1, Official Symbol MCTS1provided by HGNC Official Full Name MCTS1 re-initiation and release factorprovided by HGNC Primary source HGNC:HGNC:23357 See related Ensembl:ENSG00000232119 MIM:300587; AllianceGenome:HGNC:23357 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 MCT1; MCT-1 Summary Predicted to enable translation initiation factor activity. Involved in IRES-dependent viral translational initiation; formation of translation preinitiation complex; and ribosome disassembly. Located in cytosol and plasma membrane. Colocalizes with cytosolic small ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 3.6), brain (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
MCU, Official Symbol MCUprovided by HGNC Official Full Name mitochondrial calcium uniporterprovided by HGNC Primary source HGNC:HGNC:23526 See related Ensembl:ENSG00000156026 MIM:614197; AllianceGenome:HGNC:23526 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 HsMCU; C10orf42; CCDC109A Summary Enables calcium channel activity; identical protein binding activity; and uniporter activity. Involved in several processes, including positive regulation of mitochondrial calcium ion concentration; positive regulation of mitochondrial fission; and positive regulation of neutrophil chemotaxis. Acts upstream of or within calcium import into the mitochondrion. Located in mitochondrial inner membrane. Is integral component of mitochondrial inner membrane. Part of uniplex complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in stomach (RPKM 19.3), colon (RPKM 14.7) and 24 other tissues See more Orthologs mouse all
MCUB, Official Symbol MCUBprovided by HGNC Official Full Name mitochondrial calcium uniporter dominant negative subunit betaprovided by HGNC Primary source HGNC:HGNC:26076 See related Ensembl:ENSG00000005059 AllianceGenome:HGNC:26076 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 CCDC109B Summary Predicted to enable calcium channel inhibitor activity. Predicted to be involved in calcium import into the mitochondrion and mitochondrial calcium ion homeostasis. Located in mitochondrion and nucleoplasm. Is integral component of mitochondrial inner membrane. Part of uniplex complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 15.3), appendix (RPKM 10.9) and 21 other tissues See more Orthologs mouse all
MCUR1, Official Symbol MCUR1provided by HGNC Official Full Name mitochondrial calcium uniporter regulator 1provided by HGNC Primary source HGNC:HGNC:21097 See related Ensembl:ENSG00000050393 MIM:616952; AllianceGenome:HGNC:21097 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 FMP32; C6orf79; CCDC90A Summary Involved in calcium import into the mitochondrion and positive regulation of mitochondrial calcium ion concentration. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 10.8), kidney (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
MDC1, Official Symbol MDC1provided by HGNC Official Full Name mediator of DNA damage checkpoint 1provided by HGNC Primary source HGNC:HGNC:21163 See related Ensembl:ENSG00000137337 MIM:607593; AllianceGenome:HGNC:21163 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 NFBD1 Summary The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 20.6), thyroid (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
MDC1-AS1, Official Symbol MDC1-AS1provided by HGNC Official Full Name MDC1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39764 See related Ensembl:ENSG00000224328 AllianceGenome:HGNC:39764 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MDC1-AS Expression Broad expression in testis (RPKM 29.3), thyroid (RPKM 11.3) and 25 other tissues See more
MDFI, Official Symbol MDFIprovided by HGNC Official Full Name MyoD family inhibitorprovided by HGNC Primary source HGNC:HGNC:6967 See related Ensembl:ENSG00000112559 MIM:604971; AllianceGenome:HGNC:6967 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 I-MF; I-mfa Summary This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008] Expression Biased expression in fat (RPKM 11.0), placenta (RPKM 3.0) and 12 other tissues See more Orthologs mouse all
MDFIC, Official Symbol MDFICprovided by HGNC Official Full Name MyoD family inhibitor domain containingprovided by HGNC Primary source HGNC:HGNC:28870 See related Ensembl:ENSG00000135272 MIM:614511; AllianceGenome:HGNC:28870 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 HIC; MDFIC1; LMPHM12 Summary This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in fat (RPKM 25.2), spleen (RPKM 14.3) and 23 other tissues See more Orthologs mouse all
MDFIC2, Official Symbol MDFIC2provided by HGNC Official Full Name MyoD family inhibitor domain containing 2provided by HGNC Primary source HGNC:HGNC:53442 See related Ensembl:ENSG00000242120 AllianceGenome:HGNC:53442 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 Expression Low expression observed in reference dataset See more Orthologs mouse all
MDGA1, Official Symbol MDGA1provided by HGNC Official Full Name MAM domain containing glycosylphosphatidylinositol anchor 1provided by HGNC Primary source HGNC:HGNC:19267 See related Ensembl:ENSG00000112139 MIM:609626; AllianceGenome:HGNC:19267 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 GPIM; MAMDC3 Summary This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016] Expression Broad expression in brain (RPKM 2.6), ovary (RPKM 2.3) and 21 other tissues See more Orthologs mouse all
MDGA2, Official Symbol MDGA2provided by HGNC Official Full Name MAM domain containing glycosylphosphatidylinositol anchor 2provided by HGNC Primary source HGNC:HGNC:19835 See related Ensembl:ENSG00000139915 MIM:611128; AllianceGenome:HGNC:19835 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 MAMDC1; c14_5286 Summary Predicted to be involved in regulation of presynapse assembly; regulation of synaptic membrane adhesion; and spinal cord motor neuron differentiation. Predicted to act upstream of or within neuron migration and pattern specification process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse and glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 1.3) and testis (RPKM 0.6) See more Orthologs mouse all
MDH1, Official Symbol MDH1provided by HGNC Official Full Name malate dehydrogenase 1provided by HGNC Primary source HGNC:HGNC:6970 See related Ensembl:ENSG00000014641 MIM:154200; AllianceGenome:HGNC:6970 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 KAR; MDHA; MOR2; DEE88; MDH-s; EIEE88; HEL-S-32; MGC:1375 Summary This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016] Expression Broad expression in heart (RPKM 313.6), fat (RPKM 131.4) and 24 other tissues See more Orthologs mouse all
MDH1B, Official Symbol MDH1Bprovided by HGNC Official Full Name malate dehydrogenase 1Bprovided by HGNC Primary source HGNC:HGNC:17836 See related Ensembl:ENSG00000138400 AllianceGenome:HGNC:17836 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 RP11-95H11 Summary Predicted to enable L-malate dehydrogenase activity. Predicted to be involved in NADH metabolic process; dicarboxylic acid metabolic process; and tricarboxylic acid cycle. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 13.6), thyroid (RPKM 2.3) and 5 other tissues See more Orthologs mouse all
MDH1P2, Official Symbol MDH1P2provided by HGNC Official Full Name MDH1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54969 See related AllianceGenome:HGNC:54969 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MDH2, Official Symbol MDH2provided by HGNC Official Full Name malate dehydrogenase 2provided by HGNC Primary source HGNC:HGNC:6971 See related Ensembl:ENSG00000146701 MIM:154100; AllianceGenome:HGNC:6971 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 MDH; MOR1; DEE51; M-MDH; EIEE51; MGC:3559 Summary Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in heart (RPKM 76.5), duodenum (RPKM 46.8) and 25 other tissues See more Orthologs mouse all
MDK, Official Symbol MDKprovided by HGNC Official Full Name midkineprovided by HGNC Primary source HGNC:HGNC:6972 See related Ensembl:ENSG00000110492 MIM:162096; AllianceGenome:HGNC:6972 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 MK; ARAP; NEGF2 Summary This gene encodes a member of a small family of secreted growth factors that binds heparin and responds to retinoic acid. The encoded protein promotes cell growth, migration, and angiogenesis, in particular during tumorigenesis. This gene has been targeted as a therapeutic for a variety of different disorders. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012] Expression Broad expression in ovary (RPKM 88.5), endometrium (RPKM 55.5) and 14 other tissues See more Orthologs mouse all
MDM1, Official Symbol MDM1provided by HGNC Official Full Name Mdm1 nuclear proteinprovided by HGNC Primary source HGNC:HGNC:29917 See related Ensembl:ENSG00000111554 MIM:613813; AllianceGenome:HGNC:29917 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 microtubule-binding nuclear protein that localizes to the centrioles of dividing cells and differentiating multiciliated cells and negatively regulates centriole duplication. The encoded protein is closely associated with the centriole barrel, and resides in the centriole lumen. Naturally-occurring mutations in the orthologous mouse gene are associated with age-related retinal degeneration. [provided by RefSeq, Feb 2019] Expression Broad expression in testis (RPKM 7.9), endometrium (RPKM 4.1) and 24 other tissues See more Orthologs mouse all
MDM2, Official Symbol MDM2provided by HGNC Official Full Name MDM2 proto-oncogeneprovided by HGNC Primary source HGNC:HGNC:6973 See related Ensembl:ENSG00000135679 MIM:164785; AllianceGenome:HGNC:6973 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 HDMX; LSKB; hdm2; ACTFS Summary This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in colon (RPKM 13.6), bone marrow (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
MDM4, Official Symbol MDM4provided by HGNC Official Full Name MDM4 regulator of p53provided by HGNC Primary source HGNC:HGNC:6974 See related Ensembl:ENSG00000198625 MIM:602704; AllianceGenome:HGNC:6974 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 HDMX; MDMX; MRP1; BMFS6 Summary This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in bone marrow (RPKM 9.7), skin (RPKM 6.5) and 24 other tissues See more Orthologs mouse all
MDM4P1, Official Symbol MDM4P1provided by HGNC Official Full Name MDM4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54898 See related AllianceGenome:HGNC:54898 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MDN1, Official Symbol MDN1provided by HGNC Official Full Name midasin AAA ATPase 1provided by HGNC Primary source HGNC:HGNC:18302 See related Ensembl:ENSG00000112159 MIM:618200; AllianceGenome:HGNC:18302 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 Rea1 Summary Predicted to enable ATP binding activity. Involved in ribosomal large subunit assembly. Located in cytosol; intermediate filament cytoskeleton; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 5.6), testis (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
MDP1, Official Symbol MDP1provided by HGNC Official Full Name magnesium dependent phosphatase 1provided by HGNC Primary source HGNC:HGNC:28781 See related Ensembl:ENSG00000213920 AllianceGenome:HGNC:28781 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 MDP-1; FN6PASE Summary Predicted to enable acid phosphatase activity. Predicted to be involved in fructosamine metabolic process and peptidyl-tyrosine dephosphorylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 7.9), kidney (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
MDS2, Official Symbol MDS2provided by HGNC Official Full Name myelodysplastic syndrome 2 translocation associatedprovided by HGNC Primary source HGNC:HGNC:29633 See related Ensembl:ENSG00000197880 MIM:607305; AllianceGenome:HGNC:29633 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 1.2), thyroid (RPKM 0.9) and 6 other tissues See more Orthologs all
ME1, Official Symbol ME1provided by HGNC Official Full Name malic enzyme 1provided by HGNC Primary source HGNC:HGNC:6983 See related Ensembl:ENSG00000065833 MIM:154250; AllianceGenome:HGNC:6983 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 MES; HUMNDME Summary This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 29.4), adrenal (RPKM 23.1) and 21 other tissues See more Orthologs mouse all