psui3905/ncbi_genes_summary huggingface dataset:
MBD3L1, Official Symbol MBD3L1provided by HGNC Official Full Name methyl-CpG binding domain protein 3 like 1provided by HGNC Primary source HGNC:HGNC:15774 See related Ensembl:ENSG00000170948 MIM:607963; AllianceGenome:HGNC:15774 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 MBD3L Summary This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. [provided by RefSeq, Jul 2008] Orthologs mouse all
MBD3L2, Official Symbol MBD3L2provided by HGNC Official Full Name methyl-CpG binding domain protein 3 like 2provided by HGNC Primary source HGNC:HGNC:18532 See related Ensembl:ENSG00000230522 MIM:607964; AllianceGenome:HGNC:18532 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 protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein has been found in germ cell tumors and some somatic tissues. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more
MBD3L2B, Official Symbol MBD3L2Bprovided by HGNC Official Full Name methyl-CpG binding domain protein 3 like 2Bprovided by HGNC Primary source HGNC:HGNC:53435 See related Ensembl:ENSG00000196589 AllianceGenome:HGNC:53435 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
MBD3L3, Official Symbol MBD3L3provided by HGNC Official Full Name methyl-CpG binding domain protein 3 like 3provided by HGNC Primary source HGNC:HGNC:37205 See related Ensembl:ENSG00000182315 AllianceGenome:HGNC:37205 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 all
MBD3L4, Official Symbol MBD3L4provided by HGNC Official Full Name methyl-CpG binding domain protein 3 like 4provided by HGNC Primary source HGNC:HGNC:37206 See related Ensembl:ENSG00000205718 AllianceGenome:HGNC:37206 Gene type protein coding RefSeq status INFERRED 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 a family of proteins that are related to methyl-CpG-binding proteins but lack the methyl-CpG binding domain. There is no definitive support for transcription of this locus, and the transcript structure is inferred from other family members. [provided by RefSeq, Aug 2009] Expression Low expression observed in reference dataset See more
MBD3L5, Official Symbol MBD3L5provided by HGNC Official Full Name methyl-CpG binding domain protein 3 like 5provided by HGNC Primary source HGNC:HGNC:37204 See related Ensembl:ENSG00000237247 AllianceGenome:HGNC:37204 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 all
MBD4, Official Symbol MBD4provided by HGNC Official Full Name methyl-CpG binding domain 4, DNA glycosylaseprovided by HGNC Primary source HGNC:HGNC:6919 See related Ensembl:ENSG00000129071 MIM:603574; AllianceGenome:HGNC:6919 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 MED1; UVM1; TPDS2 Summary The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] Expression Ubiquitous expression in lymph node (RPKM 27.7), spleen (RPKM 17.6) and 25 other tissues See more Orthologs mouse all
MBD5, Official Symbol MBD5provided by HGNC Official Full Name methyl-CpG binding domain protein 5provided by HGNC Primary source HGNC:HGNC:20444 See related Ensembl:ENSG00000204406 MIM:611472; AllianceGenome:HGNC:20444 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 MRD1; DEL2Q23.1; C2DELq23.1 Summary This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in brain (RPKM 2.6), gall bladder (RPKM 2.4) and 25 other tissues See more Orthologs mouse all
MBD6, Official Symbol MBD6provided by HGNC Official Full Name methyl-CpG binding domain protein 6provided by HGNC Primary source HGNC:HGNC:20445 See related Ensembl:ENSG00000166987 MIM:619458; AllianceGenome:HGNC:20445 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 chromatin binding activity. Located in chromocenter; fibrillar center; and nucleoplasm. Implicated in autism spectrum disorder. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 15.8), spleen (RPKM 15.7) and 25 other tissues See more Orthologs mouse all
MBIP, Official Symbol MBIPprovided by HGNC Official Full Name MAP3K12 binding inhibitory protein 1provided by HGNC Primary source HGNC:HGNC:20427 See related Ensembl:ENSG00000151332 MIM:609431; AllianceGenome:HGNC:20427 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 identical protein binding activity and protein kinase inhibitor activity. Involved in histone H3 acetylation; positive regulation of JNK cascade; and positive regulation of gene expression. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 34.1), lung (RPKM 32.4) and 24 other tissues See more Orthologs mouse all
MBL1P, Official Symbol MBL1Pprovided by HGNC Official Full Name mannose binding lectin 1, pseudogeneprovided by HGNC Primary source HGNC:HGNC:6921 See related Ensembl:ENSG00000242600 AllianceGenome:HGNC:6921 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 MBL1P1; COLEC3P Summary Predicted to enable several functions, including calcium-dependent carbohydrate binding activity; mannose binding activity; and protein homodimerization activity. Predicted to be involved in protein homotrimerization. Predicted to act upstream of or within defense response to other organism and positive regulation of phagocytosis. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 2.4), kidney (RPKM 0.8) and 22 other tissues See more
MBL2, Official Symbol MBL2provided by HGNC Official Full Name mannose binding lectin 2provided by HGNC Primary source HGNC:HGNC:6922 See related Ensembl:ENSG00000165471 MIM:154545; AllianceGenome:HGNC:6922 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 MBL; MBP; MBP1; MBPD; MBL2D; MBP-C; COLEC1; HSMBPC Summary This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes and binds to mannose and N-acetylglucosamine on many microorganisms, including bacteria, yeast, and viruses including influenza virus, HIV and SARS-CoV. This binding activates the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jun 2020] Annotation information Note: MBP (Gene ID: 4155) and MBL2 (Gene ID: 4153) share the MBP symbol/alias in common. MBP is a widely used alternative name for mannose binding lectin 2 (MBL2), which can be confused with the official symbol for MBP (myelin basic protein, GeneID 4155). [01 Jun 2018] Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Restricted expression toward liver (RPKM 76.6) See more Orthologs mouse all
MBL3P, Official Symbol MBL3Pprovided by HGNC Official Full Name mannose-binding lectin family member 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:2221 See related Ensembl:ENSG00000219430 AllianceGenome:HGNC:2221 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 MBL; COLEC2
MBLAC1, Official Symbol MBLAC1provided by HGNC Official Full Name metallo-beta-lactamase domain containing 1provided by HGNC Primary source HGNC:HGNC:22180 See related Ensembl:ENSG00000214309 AllianceGenome:HGNC:22180 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 hydrolase activity and metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 1.1), kidney (RPKM 1.0) and 25 other tissues See more Orthologs mouse all
MBLAC2, Official Symbol MBLAC2provided by HGNC Official Full Name metallo-beta-lactamase domain containing 2provided by HGNC Primary source HGNC:HGNC:33711 See related Ensembl:ENSG00000176055 AllianceGenome:HGNC:33711 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 palmitoyl-CoA hydrolase activity. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 4.5), ovary (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
MBNL1, Official Symbol MBNL1provided by HGNC Official Full Name muscleblind like splicing regulator 1provided by HGNC Primary source HGNC:HGNC:6923 See related Ensembl:ENSG00000152601 MIM:606516; AllianceGenome:HGNC:6923 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 EXP; MBNL Summary This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in lymph node (RPKM 38.9), appendix (RPKM 34.6) and 24 other tissues See more Orthologs mouse all
MBNL1-AS1, Official Symbol MBNL1-AS1provided by HGNC Official Full Name MBNL1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44584 See related Ensembl:ENSG00000229619 AllianceGenome:HGNC:44584 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 Broad expression in urinary bladder (RPKM 5.2), endometrium (RPKM 5.1) and 23 other tissues See more
MBNL2, Official Symbol MBNL2provided by HGNC Official Full Name muscleblind like splicing regulator 2provided by HGNC Primary source HGNC:HGNC:16746 See related Ensembl:ENSG00000139793 MIM:607327; AllianceGenome:HGNC:16746 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 MBLL; MBLL39; PRO2032 Summary This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in fat (RPKM 36.8), adrenal (RPKM 33.8) and 25 other tissues See more Orthologs mouse all
MBNL3, Official Symbol MBNL3provided by HGNC Official Full Name muscleblind like splicing regulator 3provided by HGNC Primary source HGNC:HGNC:20564 See related Ensembl:ENSG00000076770 MIM:300413; AllianceGenome:HGNC:20564 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 CHCR; MBLX; MBXL; MBLX39 Summary This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009] Expression Broad expression in placenta (RPKM 21.9), testis (RPKM 7.6) and 16 other tissues See more Orthologs mouse all
MBOAT1, Official Symbol MBOAT1provided by HGNC Official Full Name membrane bound O-acyltransferase domain containing 1provided by HGNC Primary source HGNC:HGNC:21579 See related Ensembl:ENSG00000172197 MIM:611732; AllianceGenome:HGNC:21579 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 LPLAT; LPSAT; OACT1; LPEAT1; LPLAT 1; LPLAT14; dJ434O11.1 Summary This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in colon (RPKM 8.3), small intestine (RPKM 8.1) and 24 other tissues See more Orthologs mouse all
MBOAT2, Official Symbol MBOAT2provided by HGNC Official Full Name membrane bound O-acyltransferase domain containing 2provided by HGNC Primary source HGNC:HGNC:25193 See related Ensembl:ENSG00000143797 MIM:611949; AllianceGenome:HGNC:25193 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 LPAAT; LPCAT; LPEAT; OACT2; LPCAT4; LPLAT 2; LPLAT13 Summary Enables 1-acylglycerophosphocholine O-acyltransferase activity; 1-acylglycerophosphoethanolamine O-acyltransferase activity; and 1-acylglycerophosphoserine O-acyltransferase activity. Involved in phosphatidylcholine acyl-chain remodeling; phosphatidylethanolamine acyl-chain remodeling; and phosphatidylserine acyl-chain remodeling. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 14.5), brain (RPKM 13.4) and 23 other tissues See more Orthologs mouse all
MBOAT4, Official Symbol MBOAT4provided by HGNC Official Full Name membrane bound O-acyltransferase domain containing 4provided by HGNC Primary source HGNC:HGNC:32311 See related Ensembl:ENSG00000177669 MIM:611940; AllianceGenome:HGNC:32311 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 GOAT; OACT4; FKSG89 Summary Enables serine O-acyltransferase activity. Involved in peptidyl-serine octanoylation. Predicted to be located in endoplasmic reticulum. Predicted to be active in membrane. Predicted to be integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in stomach (RPKM 1.5), gall bladder (RPKM 0.4) and 10 other tissues See more Orthologs mouse all
MBP, Official Symbol MBPprovided by HGNC Official Full Name myelin basic proteinprovided by HGNC Primary source HGNC:HGNC:6925 See related Ensembl:ENSG00000197971 MIM:159430; AllianceGenome:HGNC:6925 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called "Golli-MBP") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008] Annotation information Note: MBP (Gene ID: 4155) and MBL2 (Gene ID: 4153) share the MBP symbol/alias in common. MBP is a widely used alternative name for mannose binding lectin 2 (MBL2), which can be confused with the official symbol for MBP (myelin basic protein, GeneID 4155). [01 Jun 2018] Expression Biased expression in brain (RPKM 287.3) and thyroid (RPKM 8.9) See more Orthologs mouse all
MBTD1, Official Symbol MBTD1provided by HGNC Official Full Name mbt domain containing 1provided by HGNC Primary source HGNC:HGNC:19866 See related Ensembl:ENSG00000011258 MIM:618705; AllianceGenome:HGNC:19866 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 SA49P01 Summary Enables methylated histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within embryonic skeletal system development. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 15.1), skin (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
MBTPS2, Official Symbol MBTPS2provided by HGNC Official Full Name membrane bound transcription factor peptidase, site 2provided by HGNC Primary source HGNC:HGNC:15455 See related Ensembl:ENSG00000012174 MIM:300294; AllianceGenome:HGNC:15455 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 S2P; IFAP; KFSD; OI19; KFSDX; OLMSX; BRESEK Summary This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009] Expression Ubiquitous expression in adrenal (RPKM 6.7), ovary (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
MC1R, Official Symbol MC1Rprovided by HGNC Official Full Name melanocortin 1 receptorprovided by HGNC Primary source HGNC:HGNC:6929 See related Ensembl:ENSG00000258839 MIM:155555; AllianceGenome:HGNC:6929 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 CMM5; MSH-R; SHEP2 Summary This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008] Orthologs mouse all
MC2R, Official Symbol MC2Rprovided by HGNC Official Full Name melanocortin 2 receptorprovided by HGNC Primary source HGNC:HGNC:6930 See related Ensembl:ENSG00000185231 MIM:607397; AllianceGenome:HGNC:6930 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 ACTHR Summary MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014] Expression Restricted expression toward adrenal (RPKM 16.0) See more Orthologs mouse all
MC3R, Official Symbol MC3Rprovided by HGNC Official Full Name melanocortin 3 receptorprovided by HGNC Primary source HGNC:HGNC:6931 See related Ensembl:ENSG00000124089 MIM:155540; AllianceGenome:HGNC:6931 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 MC3; OB20; OQTL; BMIQ9; MC3-R Summary This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008] Orthologs mouse all
MC4R, Official Symbol MC4Rprovided by HGNC Official Full Name melanocortin 4 receptorprovided by HGNC Primary source HGNC:HGNC:6932 See related Ensembl:ENSG00000166603 MIM:155541; AllianceGenome:HGNC:6932 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 BMIQ20 Summary The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010] Orthologs mouse all
MC5R, Official Symbol MC5Rprovided by HGNC Official Full Name melanocortin 5 receptorprovided by HGNC Primary source HGNC:HGNC:6933 See related Ensembl:ENSG00000176136 MIM:600042; AllianceGenome:HGNC:6933 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 MC2 Summary This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010] Orthologs mouse all
MCAM, Official Symbol MCAMprovided by HGNC Official Full Name melanoma cell adhesion moleculeprovided by HGNC Primary source HGNC:HGNC:6934 See related Ensembl:ENSG00000076706 MIM:155735; AllianceGenome:HGNC:6934 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 CD146; MUC18; HEMCAM; METCAM; MelCAM Summary Involved in glomerular filtration and vascular wound healing. Acts upstream of or within angiogenesis. Located in external side of plasma membrane. Biomarker of chronic obstructive pulmonary disease and uveal melanoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 237.1), placenta (RPKM 102.0) and 17 other tissues See more Orthologs mouse all
MCAT, Official Symbol MCATprovided by HGNC Official Full Name malonyl-CoA-acyl carrier protein transacylaseprovided by HGNC Primary source HGNC:HGNC:29622 See related Ensembl:ENSG00000100294 MIM:614479; AllianceGenome:HGNC:29622 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 MT; MCT; MCT1; fabD; NET62; FASN2C Summary The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in kidney (RPKM 9.6), testis (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
MCC, Official Symbol MCCprovided by HGNC Official Full Name MCC regulator of WNT signaling pathwayprovided by HGNC Primary source HGNC:HGNC:6935 See related Ensembl:ENSG00000171444 MIM:159350; AllianceGenome:HGNC:6935 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 MCC1 Summary This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 18.3), skin (RPKM 6.6) and 21 other tissues See more Orthologs mouse all
MCCC1, Official Symbol MCCC1provided by HGNC Official Full Name methylcrotonyl-CoA carboxylase subunit 1provided by HGNC Primary source HGNC:HGNC:6936 See related Ensembl:ENSG00000078070 MIM:609010; AllianceGenome:HGNC:6936 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 MCCA; MCC-B; MCCCalpha Summary This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 22.0), kidney (RPKM 20.5) and 25 other tissues See more Orthologs mouse all
MCCC2, Official Symbol MCCC2provided by HGNC Official Full Name methylcrotonyl-CoA carboxylase subunit 2provided by HGNC Primary source HGNC:HGNC:6937 See related Ensembl:ENSG00000131844 MIM:609014; AllianceGenome:HGNC:6937 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 MCCB; MCCCbeta Summary This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018] Expression Ubiquitous expression in prostate (RPKM 27.1), kidney (RPKM 27.0) and 25 other tissues See more Orthologs mouse all
MCCD1, Official Symbol MCCD1provided by HGNC Official Full Name mitochondrial coiled-coil domain 1provided by HGNC Primary source HGNC:HGNC:20668 See related Ensembl:ENSG00000204511 MIM:609624; AllianceGenome:HGNC:20668 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 be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward kidney (RPKM 18.2) See more Orthologs all
MCCD1P1, Official Symbol MCCD1P1provided by HGNC Official Full Name mitochondrial coiled-coil domain 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:33449 See related Ensembl:ENSG00000235963 AllianceGenome:HGNC:33449 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MCEE, Official Symbol MCEEprovided by HGNC Official Full Name methylmalonyl-CoA epimeraseprovided by HGNC Primary source HGNC:HGNC:16732 See related Ensembl:ENSG00000124370 MIM:608419; AllianceGenome:HGNC:16732 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 MCE; MMCE; GLOD2 Summary The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 12.0), kidney (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
MCEMP1, Official Symbol MCEMP1provided by HGNC Official Full Name mast cell expressed membrane protein 1provided by HGNC Primary source HGNC:HGNC:27291 See related Ensembl:ENSG00000183019 MIM:609565; AllianceGenome:HGNC:27291 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 C19orf59 Summary This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008] Expression Biased expression in lung (RPKM 39.7), bone marrow (RPKM 28.1) and 1 other tissue See more Orthologs mouse all
MCF2, Official Symbol MCF2provided by HGNC Official Full Name MCF.2 cell line derived transforming sequenceprovided by HGNC Primary source HGNC:HGNC:6940 See related Ensembl:ENSG00000101977 MIM:311030; AllianceGenome:HGNC:6940 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 DBL; ARHGEF21 Summary The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010] Expression Biased expression in adrenal (RPKM 10.3), testis (RPKM 7.9) and 2 other tissues See more Orthologs mouse all
MCF2L, Official Symbol MCF2Lprovided by HGNC Official Full Name MCF.2 cell line derived transforming sequence likeprovided by HGNC Primary source HGNC:HGNC:14576 See related Ensembl:ENSG00000126217 MIM:609499; AllianceGenome:HGNC:14576 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 DBS; OST; ARHGEF14 Summary This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in fat (RPKM 8.1), brain (RPKM 8.0) and 22 other tissues See more Orthologs mouse all
MCF2L2, Official Symbol MCF2L2provided by HGNC Official Full Name MCF.2 cell line derived transforming sequence-like 2provided by HGNC Primary source HGNC:HGNC:30319 See related Ensembl:ENSG00000053524 MIM:619946; AllianceGenome:HGNC:30319 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 ARHGEF22 Summary Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 2.9), bone marrow (RPKM 2.0) and 21 other tissues See more Orthologs all
MCFD2, Official Symbol MCFD2provided by HGNC Official Full Name multiple coagulation factor deficiency 2, ER cargo receptor complex subunitprovided by HGNC Primary source HGNC:HGNC:18451 See related Ensembl:ENSG00000180398 MIM:607788; AllianceGenome:HGNC:18451 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 F5F8D; SDNSF; F5F8D2; LMAN1IP Summary This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in adrenal (RPKM 49.7), thyroid (RPKM 38.1) and 25 other tissues See more Orthologs mouse all
MCFD2P1, Official Symbol MCFD2P1provided by HGNC Official Full Name multiple coagulation factor deficiency 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:21582 See related AllianceGenome:HGNC:21582 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 MCFD2L; C6orf44; NUCB2-L; dJ153G14.2
MCHR1, Official Symbol MCHR1provided by HGNC Official Full Name melanin concentrating hormone receptor 1provided by HGNC Primary source HGNC:HGNC:4479 See related Ensembl:ENSG00000128285 MIM:601751; AllianceGenome:HGNC:4479 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 SLC1; GPR24; MCH1R; SLC-1; MCH-1R Summary The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 4.7), ovary (RPKM 1.2) and 5 other tissues See more Orthologs mouse all
MCHR2, Official Symbol MCHR2provided by HGNC Official Full Name melanin concentrating hormone receptor 2provided by HGNC Primary source HGNC:HGNC:20867 See related Ensembl:ENSG00000152034 MIM:606111; AllianceGenome:HGNC:20867 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 SLT; MCH2; MCH2R; GPR145; GPRv17; MCH-2R; MCH-R2; MCHR-2 Summary Predicted to enable G protein-coupled peptide receptor activity. Predicted to be involved in neuropeptide signaling pathway. Predicted to be located in plasma membrane. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 3.0) and testis (RPKM 2.4) See more Orthologs all
MCHR2-AS1, Official Symbol MCHR2-AS1provided by HGNC Official Full Name MCHR2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48980 See related Ensembl:ENSG00000229315 AllianceGenome:HGNC:48980 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 Restricted expression toward testis (RPKM 29.6) See more
MCIDAS, Official Symbol MCIDASprovided by HGNC Official Full Name multiciliate differentiation and DNA synthesis associated cell cycle proteinprovided by HGNC Primary source HGNC:HGNC:40050 See related Ensembl:ENSG00000234602 MIM:614086; AllianceGenome:HGNC:40050 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 MCI; IDAS; MCIN; CILD42 Summary This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
MCL1, Official Symbol MCL1provided by HGNC Official Full Name MCL1 apoptosis regulator, BCL2 family memberprovided by HGNC Primary source HGNC:HGNC:6943 See related Ensembl:ENSG00000143384 MIM:159552; AllianceGenome:HGNC:6943 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 TM; EAT; MCL1L; MCL1S; Mcl-1; BCL2L3; MCL1-ES; bcl2-L-3; mcl1/EAT Summary This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010] Expression Ubiquitous expression in bone marrow (RPKM 341.7), gall bladder (RPKM 276.1) and 25 other tissues See more Orthologs mouse all
MCM10, Official Symbol MCM10provided by HGNC Official Full Name minichromosome maintenance 10 replication initiation factorprovided by HGNC Primary source HGNC:HGNC:18043 See related Ensembl:ENSG00000065328 MIM:609357; AllianceGenome:HGNC:18043 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 CNA43; DNA43; IMD80; PRO2249 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 it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 2.8), lymph node (RPKM 2.2) and 15 other tissues See more Orthologs mouse all