psui3905/ncbi_genes_summary huggingface dataset:
MTCYBP14, Official Symbol MTCYBP14provided by HGNC Official Full Name MT-CYB pseudogene 14provided by HGNC Primary source HGNC:HGNC:51960 See related Ensembl:ENSG00000238236 AllianceGenome:HGNC:51960 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP15, Official Symbol MTCYBP15provided by HGNC Official Full Name MT-CYB pseudogene 15provided by HGNC Primary source HGNC:HGNC:51968 See related Ensembl:ENSG00000232154 AllianceGenome:HGNC:51968 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP16, Official Symbol MTCYBP16provided by HGNC Official Full Name MT-CYB pseudogene 16provided by HGNC Primary source HGNC:HGNC:51969 See related Ensembl:ENSG00000251385 AllianceGenome:HGNC:51969 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP17, Official Symbol MTCYBP17provided by HGNC Official Full Name MT-CYB pseudogene 17provided by HGNC Primary source HGNC:HGNC:51970 See related Ensembl:ENSG00000249247 AllianceGenome:HGNC:51970 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP18, Official Symbol MTCYBP18provided by HGNC Official Full Name MT-CYB pseudogene 18provided by HGNC Primary source HGNC:HGNC:51976 See related Ensembl:ENSG00000244921 AllianceGenome:HGNC:51976 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP19, Official Symbol MTCYBP19provided by HGNC Official Full Name MT-CYB pseudogene 19provided by HGNC Primary source HGNC:HGNC:51971 See related Ensembl:ENSG00000253504 AllianceGenome:HGNC:51971 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP2, Official Symbol MTCYBP2provided by HGNC Official Full Name MT-CYB pseudogene 2provided by HGNC Primary source HGNC:HGNC:38807 See related Ensembl:ENSG00000217179 AllianceGenome:HGNC:38807 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP20, Official Symbol MTCYBP20provided by HGNC Official Full Name MT-CYB pseudogene 20provided by HGNC Primary source HGNC:HGNC:51973 See related Ensembl:ENSG00000254118 AllianceGenome:HGNC:51973 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP21, Official Symbol MTCYBP21provided by HGNC Official Full Name MT-CYB pseudogene 21provided by HGNC Primary source HGNC:HGNC:51977 See related Ensembl:ENSG00000224747 AllianceGenome:HGNC:51977 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP22, Official Symbol MTCYBP22provided by HGNC Official Full Name MT-CYB pseudogene 22provided by HGNC Primary source HGNC:HGNC:51979 See related Ensembl:ENSG00000270232 AllianceGenome:HGNC:51979 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP23, Official Symbol MTCYBP23provided by HGNC Official Full Name MT-CYB pseudogene 23provided by HGNC Primary source HGNC:HGNC:51980 See related Ensembl:ENSG00000259671 AllianceGenome:HGNC:51980 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP24, Official Symbol MTCYBP24provided by HGNC Official Full Name MT-CYB pseudogene 24provided by HGNC Primary source HGNC:HGNC:51983 See related Ensembl:ENSG00000236232 AllianceGenome:HGNC:51983 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP27, Official Symbol MTCYBP27provided by HGNC Official Full Name MT-CYB pseudogene 27provided by HGNC Primary source HGNC:HGNC:51993 See related Ensembl:ENSG00000259012 AllianceGenome:HGNC:51993 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP28, Official Symbol MTCYBP28provided by HGNC Official Full Name MT-CYB pseudogene 28provided by HGNC Primary source HGNC:HGNC:51994 See related Ensembl:ENSG00000260161 AllianceGenome:HGNC:51994 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP29, Official Symbol MTCYBP29provided by HGNC Official Full Name MT-CYB pseudogene 29provided by HGNC Primary source HGNC:HGNC:51995 See related Ensembl:ENSG00000224880 AllianceGenome:HGNC:51995 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP3, Official Symbol MTCYBP3provided by HGNC Official Full Name MT-CYB pseudogene 3provided by HGNC Primary source HGNC:HGNC:39579 See related Ensembl:ENSG00000232373 AllianceGenome:HGNC:39579 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP31, Official Symbol MTCYBP31provided by HGNC Official Full Name MT-CYB pseudogene 31provided by HGNC Primary source HGNC:HGNC:51997 See related Ensembl:ENSG00000226579 AllianceGenome:HGNC:51997 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP32, Official Symbol MTCYBP32provided by HGNC Official Full Name MT-CYB pseudogene 32provided by HGNC Primary source HGNC:HGNC:52174 See related Ensembl:ENSG00000229794 AllianceGenome:HGNC:52174 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP33, Official Symbol MTCYBP33provided by HGNC Official Full Name MT-CYB pseudogene 33provided by HGNC Primary source HGNC:HGNC:52301 See related Ensembl:ENSG00000263241 AllianceGenome:HGNC:52301 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP34, Official Symbol MTCYBP34provided by HGNC Official Full Name MT-CYB pseudogene 34provided by HGNC Primary source HGNC:HGNC:52302 See related Ensembl:ENSG00000237129 AllianceGenome:HGNC:52302 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP35, Official Symbol MTCYBP35provided by HGNC Official Full Name MT-CYB pseudogene 35provided by HGNC Primary source HGNC:HGNC:52303 See related Ensembl:ENSG00000251340 AllianceGenome:HGNC:52303 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP36, Official Symbol MTCYBP36provided by HGNC Official Full Name MT-CYB pseudogene 36provided by HGNC Primary source HGNC:HGNC:52304 See related Ensembl:ENSG00000216853 AllianceGenome:HGNC:52304 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP37, Official Symbol MTCYBP37provided by HGNC Official Full Name MT-CYB pseudogene 37provided by HGNC Primary source HGNC:HGNC:52305 See related Ensembl:ENSG00000248765 AllianceGenome:HGNC:52305 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP38, Official Symbol MTCYBP38provided by HGNC Official Full Name MT-CYB pseudogene 38provided by HGNC Primary source HGNC:HGNC:52306 See related Ensembl:ENSG00000226414 AllianceGenome:HGNC:52306 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP39, Official Symbol MTCYBP39provided by HGNC Official Full Name MT-CYB pseudogene 39provided by HGNC Primary source HGNC:HGNC:52307 See related Ensembl:ENSG00000226341 AllianceGenome:HGNC:52307 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP4, Official Symbol MTCYBP4provided by HGNC Official Full Name MT-CYB pseudogene 4provided by HGNC Primary source HGNC:HGNC:41923 See related Ensembl:ENSG00000220113 AllianceGenome:HGNC:41923 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP40, Official Symbol MTCYBP40provided by HGNC Official Full Name MT-CYB pseudogene 40provided by HGNC Primary source HGNC:HGNC:52308 See related Ensembl:ENSG00000248931 AllianceGenome:HGNC:52308 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP41, Official Symbol MTCYBP41provided by HGNC Official Full Name MT-CYB pseudogene 41provided by HGNC Primary source HGNC:HGNC:52309 See related Ensembl:ENSG00000254650 AllianceGenome:HGNC:52309 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP42, Official Symbol MTCYBP42provided by HGNC Official Full Name MT-CYB pseudogene 42provided by HGNC Primary source HGNC:HGNC:52310 See related Ensembl:ENSG00000228803 AllianceGenome:HGNC:52310 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP43, Official Symbol MTCYBP43provided by HGNC Official Full Name MT-CYB pseudogene 43provided by HGNC Primary source HGNC:HGNC:52311 See related Ensembl:ENSG00000250624 AllianceGenome:HGNC:52311 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP44, Official Symbol MTCYBP44provided by HGNC Official Full Name MT-CYB pseudogene 44provided by HGNC Primary source HGNC:HGNC:52312 See related Ensembl:ENSG00000248282 AllianceGenome:HGNC:52312 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP45, Official Symbol MTCYBP45provided by HGNC Official Full Name MT-CYB pseudogene 45provided by HGNC Primary source HGNC:HGNC:52313 See related Ensembl:ENSG00000224338 AllianceGenome:HGNC:52313 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP5, Official Symbol MTCYBP5provided by HGNC Official Full Name MT-CYB pseudogene 5provided by HGNC Primary source HGNC:HGNC:51967 See related Ensembl:ENSG00000234671 AllianceGenome:HGNC:51967 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP6, Official Symbol MTCYBP6provided by HGNC Official Full Name MT-CYB pseudogene 6provided by HGNC Primary source HGNC:HGNC:51974 See related Ensembl:ENSG00000230605 AllianceGenome:HGNC:51974 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP7, Official Symbol MTCYBP7provided by HGNC Official Full Name MT-CYB pseudogene 7provided by HGNC Primary source HGNC:HGNC:51964 See related Ensembl:ENSG00000227789 AllianceGenome:HGNC:51964 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP8, Official Symbol MTCYBP8provided by HGNC Official Full Name MT-CYB pseudogene 8provided by HGNC Primary source HGNC:HGNC:51965 See related Ensembl:ENSG00000233550 AllianceGenome:HGNC:51965 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTCYBP9, Official Symbol MTCYBP9provided by HGNC Official Full Name MT-CYB pseudogene 9provided by HGNC Primary source HGNC:HGNC:51966 See related Ensembl:ENSG00000229935 AllianceGenome:HGNC:51966 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTDH, Official Symbol MTDHprovided by HGNC Official Full Name metadherinprovided by HGNC Primary source HGNC:HGNC:29608 See related Ensembl:ENSG00000147649 MIM:610323; AllianceGenome:HGNC:29608 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 3D3; AEG1; AEG-1; LYRIC; LYRIC/3D3 Summary Enables NF-kappaB binding activity; double-stranded RNA binding activity; and transcription coactivator activity. Involved in several processes, including lipopolysaccharide-mediated signaling pathway; positive regulation of intracellular signal transduction; and regulation of transcription, DNA-templated. Located in endoplasmic reticulum; nuclear lumen; and perinuclear region of cytoplasm. Implicated in hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 24.7), bone marrow (RPKM 21.0) and 25 other tissues See more Orthologs mouse all
MTDHP1, Official Symbol MTDHP1provided by HGNC Official Full Name metadherin pseudogene 1provided by HGNC Primary source HGNC:HGNC:52357 See related Ensembl:ENSG00000270948 AllianceGenome:HGNC:52357 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTDHP2, Official Symbol MTDHP2provided by HGNC Official Full Name metadherin pseudogene 2provided by HGNC Primary source HGNC:HGNC:52358 See related Ensembl:ENSG00000269615 AllianceGenome:HGNC:52358 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTDHP3, Official Symbol MTDHP3provided by HGNC Official Full Name metadherin pseudogene 3provided by HGNC Primary source HGNC:HGNC:52359 See related Ensembl:ENSG00000268433 AllianceGenome:HGNC:52359 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTDHP5, Official Symbol MTDHP5provided by HGNC Official Full Name metadherin pseudogene 5provided by HGNC Primary source HGNC:HGNC:52361 See related Ensembl:ENSG00000269575 AllianceGenome:HGNC:52361 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTERF1, Official Symbol MTERF1provided by HGNC Official Full Name mitochondrial transcription termination factor 1provided by HGNC Primary source HGNC:HGNC:21463 See related Ensembl:ENSG00000127989 MIM:602318; AllianceGenome:HGNC:21463 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 MTERF Summary This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 5.6), appendix (RPKM 4.0) and 25 other tissues See more Orthologs all
MTERF2, Official Symbol MTERF2provided by HGNC Official Full Name mitochondrial transcription termination factor 2provided by HGNC Primary source HGNC:HGNC:30779 See related Ensembl:ENSG00000120832 MIM:616929; AllianceGenome:HGNC:30779 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 mTERFL; MTERFD3 Summary Enables DNA binding activity. Predicted to be involved in termination of mitochondrial transcription. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 8.7), skin (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
MTERF3, Official Symbol MTERF3provided by HGNC Official Full Name mitochondrial transcription termination factor 3provided by HGNC Primary source HGNC:HGNC:24258 See related Ensembl:ENSG00000156469 MIM:616930; AllianceGenome:HGNC:24258 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 CGI-12; MTERFD1 Summary Enables transcription cis-regulatory region binding activity. Involved in negative regulation of transcription, DNA-templated. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 7.1), appendix (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
MTERF4, Official Symbol MTERF4provided by HGNC Official Full Name mitochondrial transcription termination factor 4provided by HGNC Primary source HGNC:HGNC:28785 See related Ensembl:ENSG00000122085 MIM:615393; AllianceGenome:HGNC:28785 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 MTERFD2 Summary Enables rRNA binding activity. Predicted to be involved in rRNA processing and regulation of transcription, DNA-templated. Predicted to act upstream of or within several processes, including mitochondrial transcription; protein targeting to mitochondrion; and ribosome assembly. Located in cytosol and mitochondrion. Part of mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 7.9), thyroid (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
MTF1, Official Symbol MTF1provided by HGNC Official Full Name metal regulatory transcription factor 1provided by HGNC Primary source HGNC:HGNC:7428 See related Ensembl:ENSG00000188786 MIM:600172; AllianceGenome:HGNC:7428 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 ZRF; MTF-1 Summary This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 7.9), testis (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
MTF2, Official Symbol MTF2provided by HGNC Official Full Name metal response element binding transcription factor 2provided by HGNC Primary source HGNC:HGNC:29535 See related Ensembl:ENSG00000143033 MIM:609882; AllianceGenome:HGNC:29535 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 M96; PCL2; TDRD19A; dJ976O13.2 Summary Enables methylated histone binding activity and transcription corepressor binding activity. Predicted to be involved in several processes, including regulation of histone H3-K27 methylation; regulation of transcription by RNA polymerase II; and segment specification. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Located in cytoplasm; focal adhesion; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 5.1), lymph node (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
MTFMT, Official Symbol MTFMTprovided by HGNC Official Full Name mitochondrial methionyl-tRNA formyltransferaseprovided by HGNC Primary source HGNC:HGNC:29666 See related Ensembl:ENSG00000103707 MIM:611766; AllianceGenome:HGNC:29666 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 FMT1; COXPD15; MC1DN27 Summary The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011] Expression Ubiquitous expression in colon (RPKM 2.7), kidney (RPKM 2.6) and 25 other tissues See more Orthologs mouse all
MTFP1, Official Symbol MTFP1provided by HGNC Official Full Name mitochondrial fission process 1provided by HGNC Primary source HGNC:HGNC:26945 See related Ensembl:ENSG00000242114 MIM:610235; AllianceGenome:HGNC:26945 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 MTP18; HSPC242 Summary MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in duodenum (RPKM 6.4), placenta (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
MTFR1, Official Symbol MTFR1provided by HGNC Official Full Name mitochondrial fission regulator 1provided by HGNC Primary source HGNC:HGNC:29510 See related Ensembl:ENSG00000066855 MIM:619414; AllianceGenome:HGNC:29510 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 CHPPR; FAM54A2 Summary This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in kidney (RPKM 10.4), testis (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
MTFR1L, Official Symbol MTFR1Lprovided by HGNC Official Full Name mitochondrial fission regulator 1 likeprovided by HGNC Primary source HGNC:HGNC:28836 See related Ensembl:ENSG00000117640 AllianceGenome:HGNC:28836 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 FAM54B; MST116; MSTP116; HYST1888 Summary Predicted to be involved in aerobic respiration and mitochondrial fission. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 46.8), adrenal (RPKM 39.4) and 25 other tissues See more Orthologs mouse all
MTFR2, Official Symbol MTFR2provided by HGNC Official Full Name mitochondrial fission regulator 2provided by HGNC Primary source HGNC:HGNC:21115 See related Ensembl:ENSG00000146410 AllianceGenome:HGNC:21115 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 DUFD1; FAM54A Summary Predicted to be involved in aerobic respiration and mitochondrial fission. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 2.0), bone marrow (RPKM 1.8) and 12 other tissues See more Orthologs mouse all
MTG1, Official Symbol MTG1provided by HGNC Official Full Name mitochondrial ribosome associated GTPase 1provided by HGNC Primary source HGNC:HGNC:32159 See related Ensembl:ENSG00000148824 AllianceGenome:HGNC:32159 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 GTP; GTPBP7 Summary Enables GTPase activity. Involved in regulation of mitochondrial translation and regulation of respiratory system process. Located in mitochondrial inner membrane and mitochondrial ribosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 19.8), duodenum (RPKM 18.8) and 25 other tissues See more Orthologs mouse all
MTG2, Official Symbol MTG2provided by HGNC Official Full Name mitochondrial ribosome associated GTPase 2provided by HGNC Primary source HGNC:HGNC:16239 See related Ensembl:ENSG00000101181 MIM:610919; AllianceGenome:HGNC:16239 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 ObgH1; GTPBP5; dJ1005F21.2 Summary Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 3.6), skin (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
MTHFD1, Official Symbol MTHFD1provided by HGNC Official Full Name methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1provided by HGNC Primary source HGNC:HGNC:7432 See related Ensembl:ENSG00000100714 MIM:172460; AllianceGenome:HGNC:7432 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 CIMAH; MTHFC; MTHFD Summary This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 96.4), fat (RPKM 36.5) and 22 other tissues See more Orthologs mouse all
MTHFD1L, Official Symbol MTHFD1Lprovided by HGNC Official Full Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 likeprovided by HGNC Primary source HGNC:HGNC:21055 See related Ensembl:ENSG00000120254 MIM:611427; AllianceGenome:HGNC:21055 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 FTHFSDC1; MTC1THFS; dJ292B18.2 Summary The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011] Expression Ubiquitous expression in ovary (RPKM 2.3), thyroid (RPKM 2.0) and 25 other tissues See more Orthologs mouse all
MTHFD1P1, Official Symbol MTHFD1P1provided by HGNC Official Full Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:7433 See related Ensembl:ENSG00000231831 AllianceGenome:HGNC:7433 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 MTHFDL1; MTHFDP1
MTHFD2, Official Symbol MTHFD2provided by HGNC Official Full Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolaseprovided by HGNC Primary source HGNC:HGNC:7434 See related Ensembl:ENSG00000065911 MIM:604887; AllianceGenome:HGNC:7434 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 NMDMC Summary This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in appendix (RPKM 27.6), lymph node (RPKM 27.0) and 25 other tissues See more Orthologs mouse all
MTHFD2L, Official Symbol MTHFD2Lprovided by HGNC Official Full Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 likeprovided by HGNC Primary source HGNC:HGNC:31865 See related Ensembl:ENSG00000163738 MIM:614047; AllianceGenome:HGNC:31865 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 methenyltetrahydrofolate cyclohydrolase activity; methylenetetrahydrofolate dehydrogenase (NAD+) activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in tetrahydrofolate interconversion. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
MTHFD2P1, Official Symbol MTHFD2P1provided by HGNC Official Full Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1provided by HGNC Primary source HGNC:HGNC:48859 See related Ensembl:ENSG00000244681 AllianceGenome:HGNC:48859 Gene type pseudo 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
MTHFD2P2, Official Symbol MTHFD2P2provided by HGNC Official Full Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 2provided by HGNC Primary source HGNC:HGNC:48860 See related Ensembl:ENSG00000217169 AllianceGenome:HGNC:48860 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTHFD2P3, Official Symbol MTHFD2P3provided by HGNC Official Full Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 3provided by HGNC Primary source HGNC:HGNC:48866 See related Ensembl:ENSG00000231112 AllianceGenome:HGNC:48866 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTHFD2P7, Official Symbol MTHFD2P7provided by HGNC Official Full Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 7provided by HGNC Primary source HGNC:HGNC:48865 See related Ensembl:ENSG00000181260 AllianceGenome:HGNC:48865 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTHFR, Official Symbol MTHFRprovided by HGNC Official Full Name methylenetetrahydrofolate reductaseprovided by HGNC Primary source HGNC:HGNC:7436 See related Ensembl:ENSG00000177000 MIM:607093; AllianceGenome:HGNC:7436 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in lung (RPKM 7.5), thyroid (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
MTHFS, Official Symbol MTHFSprovided by HGNC Official Full Name methenyltetrahydrofolate synthetaseprovided by HGNC Primary source HGNC:HGNC:7437 See related Ensembl:ENSG00000136371 MIM:604197; AllianceGenome:HGNC:7437 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 NEDMEHM; HsT19268 Summary The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] Expression Broad expression in liver (RPKM 20.2), kidney (RPKM 14.0) and 23 other tissues See more Orthologs mouse all
MTHFSD, Official Symbol MTHFSDprovided by HGNC Official Full Name methenyltetrahydrofolate synthetase domain containingprovided by HGNC Primary source HGNC:HGNC:25778 See related Ensembl:ENSG00000103248 MIM:616820; AllianceGenome:HGNC:25778 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 RNA binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.7), prostate (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
MTIF2, Official Symbol MTIF2provided by HGNC Official Full Name mitochondrial translational initiation factor 2provided by HGNC Primary source HGNC:HGNC:7441 See related Ensembl:ENSG00000085760 MIM:603766; AllianceGenome:HGNC:7441 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 During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in colon (RPKM 8.3), thyroid (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
MTIF2P1, Official Symbol MTIF2P1provided by HGNC Official Full Name mitochondrial translational initiation factor 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:14861 See related Ensembl:ENSG00000233432 AllianceGenome:HGNC:14861 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTIF3, Official Symbol MTIF3provided by HGNC Official Full Name mitochondrial translational initiation factor 3provided by HGNC Primary source HGNC:HGNC:29788 See related Ensembl:ENSG00000122033 MIM:619554; AllianceGenome:HGNC:29788 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 IF3mt Summary This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinson's disease. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in fat (RPKM 26.6), testis (RPKM 20.2) and 25 other tissues See more Orthologs mouse all
MTL3P, Official Symbol MTL3Pprovided by HGNC Official Full Name metallothionein-like 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:7444 See related AllianceGenome:HGNC:7444 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 MTL3
MTLN, Official Symbol MTLNprovided by HGNC Official Full Name mitoregulinprovided by HGNC Primary source HGNC:HGNC:27339 See related Ensembl:ENSG00000175701 AllianceGenome:HGNC:27339 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 MPM; LEMP; MOXI; TILR; SMIM37; LINC00116; NCRNA00116 Summary Involved in several processes, including fatty acid beta-oxidation; positive regulation of mitochondrial membrane potential; and triglyceride homeostasis. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 3.7), kidney (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
MTM1, Official Symbol MTM1provided by HGNC Official Full Name myotubularin 1provided by HGNC Primary source HGNC:HGNC:7448 See related Ensembl:ENSG00000171100 MIM:300415; AllianceGenome:HGNC:7448 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 CNM; CNMX; MTMX; XLMTM Summary This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
MTMR1, Official Symbol MTMR1provided by HGNC Official Full Name myotubularin related protein 1provided by HGNC Primary source HGNC:HGNC:7449 See related Ensembl:ENSG00000063601 MIM:300171; AllianceGenome:HGNC:7449 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 7.5), skin (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
MTMR10, Official Symbol MTMR10provided by HGNC Official Full Name myotubularin related protein 10provided by HGNC Primary source HGNC:HGNC:25999 See related Ensembl:ENSG00000166912 AllianceGenome:HGNC:25999 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 phosphatidylinositol-3-phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 17.0), placenta (RPKM 15.7) and 25 other tissues See more Orthologs mouse all
MTMR11, Official Symbol MTMR11provided by HGNC Official Full Name myotubularin related protein 11provided by HGNC Primary source HGNC:HGNC:24307 See related Ensembl:ENSG00000014914 AllianceGenome:HGNC:24307 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 CRA Summary Predicted to enable phosphatidylinositol-3-phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in duodenum (RPKM 30.4), small intestine (RPKM 29.8) and 17 other tissues See more Orthologs mouse all
MTMR12, Official Symbol MTMR12provided by HGNC Official Full Name myotubularin related protein 12provided by HGNC Primary source HGNC:HGNC:18191 See related Ensembl:ENSG00000150712 MIM:606501; AllianceGenome:HGNC:18191 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 3-PAP; PIP3AP Summary Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] Expression Ubiquitous expression in testis (RPKM 14.2), lung (RPKM 9.9) and 25 other tissues See more Orthologs mouse all