psui3905/ncbi_genes_summary huggingface dataset:
NDUFA5P3, Official Symbol NDUFA5P3provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A5 pseudogene 3provided by HGNC Primary source HGNC:HGNC:48845 See related Ensembl:ENSG00000234853 AllianceGenome:HGNC:48845 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFA5P4, Official Symbol NDUFA5P4provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A5 pseudogene 4provided by HGNC Primary source HGNC:HGNC:48846 See related AllianceGenome:HGNC:48846 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFA5P7, Official Symbol NDUFA5P7provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A5 pseudogene 7provided by HGNC Primary source HGNC:HGNC:48849 See related Ensembl:ENSG00000234039 AllianceGenome:HGNC:48849 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFA6, Official Symbol NDUFA6provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A6provided by HGNC Primary source HGNC:HGNC:7690 See related Ensembl:ENSG00000184983 MIM:602138; AllianceGenome:HGNC:7690 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 B14; LYRM6; CI-B14; MC1DN33; NADHB14 Summary This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in heart (RPKM 63.4), kidney (RPKM 42.5) and 25 other tissues See more Orthologs mouse all
NDUFA7, Official Symbol NDUFA7provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A7provided by HGNC Primary source HGNC:HGNC:7691 See related Ensembl:ENSG00000267855 MIM:602139; AllianceGenome:HGNC:7691 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 B14.5a; CI-B14.5a Summary This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in heart (RPKM 24.4), kidney (RPKM 16.8) and 25 other tissues See more Orthologs mouse all
NDUFA8, Official Symbol NDUFA8provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A8provided by HGNC Primary source HGNC:HGNC:7692 See related Ensembl:ENSG00000119421 MIM:603359; AllianceGenome:HGNC:7692 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 PGIV; CI-19KD; CI-PGIV; MC1DN37 Summary The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in heart (RPKM 64.4), testis (RPKM 25.8) and 24 other tissues See more Orthologs mouse all
NDUFA8P1, Official Symbol NDUFA8P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A8 pseudogene 1provided by HGNC Primary source HGNC:HGNC:52264 See related Ensembl:ENSG00000271710 AllianceGenome:HGNC:52264 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFA9, Official Symbol NDUFA9provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A9provided by HGNC Primary source HGNC:HGNC:7693 See related Ensembl:ENSG00000139180 MIM:603834; AllianceGenome:HGNC:7693 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 CC6; CI39k; COQ11; CI-39k; MC1DN26; NDUFS2L; SDR22E1 Summary The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010] Expression Ubiquitous expression in heart (RPKM 54.9), colon (RPKM 38.4) and 25 other tissues See more Orthologs mouse all
NDUFA9P1, Official Symbol NDUFA9P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A9 pseudogene 1provided by HGNC Primary source HGNC:HGNC:19252 See related Ensembl:ENSG00000237406 AllianceGenome:HGNC:19252 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 dJ106I20.2
NDUFAB1, Official Symbol NDUFAB1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit AB1provided by HGNC Primary source HGNC:HGNC:7694 See related Ensembl:ENSG00000004779 MIM:603836; AllianceGenome:HGNC:7694 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 ACP; ACP1; SDAP; FASN2A Summary Predicted to enable acyl binding activity; acyl carrier activity; and fatty acid binding activity. Involved in mitochondrial respiratory chain complex I assembly and protein lipoylation. Located in mitochondrion and nucleoplasm. Part of mitochondrial respiratory chain complex I. Colocalizes with mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 68.8), colon (RPKM 46.1) and 25 other tissues See more Orthologs mouse all
NDUFAB1P1, Official Symbol NDUFAB1P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit AB1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:52265 See related Ensembl:ENSG00000217767 AllianceGenome:HGNC:52265 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFAF1, Official Symbol NDUFAF1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase complex assembly factor 1provided by HGNC Primary source HGNC:HGNC:18828 See related Ensembl:ENSG00000137806 MIM:606934; AllianceGenome:HGNC:18828 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 CGI65; CIA30; CGI-65; MC1DN11 Summary This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in adrenal (RPKM 10.5), testis (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
NDUFAF2, Official Symbol NDUFAF2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase complex assembly factor 2provided by HGNC Primary source HGNC:HGNC:28086 See related Ensembl:ENSG00000164182 MIM:609653; AllianceGenome:HGNC:28086 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 MMTN; B17.2L; MC1DN10; mimitin; NDUFA12L Summary NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 14.6), adrenal (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
NDUFAF2P1, Official Symbol NDUFAF2P1provided by HGNC Official Full Name NDUFAF2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54722 See related Ensembl:ENSG00000279307 AllianceGenome:HGNC:54722 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFAF2P2, Official Symbol NDUFAF2P2provided by HGNC Official Full Name NDUFAF2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54723 See related AllianceGenome:HGNC:54723 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFAF3, Official Symbol NDUFAF3provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase complex assembly factor 3provided by HGNC Primary source HGNC:HGNC:29918 See related Ensembl:ENSG00000178057 MIM:612911; AllianceGenome:HGNC:29918 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 2P1; E3-3; C3orf60; MC1DN18 Summary This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009] Expression Broad expression in testis (RPKM 52.4), fat (RPKM 20.6) and 24 other tissues See more Orthologs mouse all
NDUFAF4, Official Symbol NDUFAF4provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase complex assembly factor 4provided by HGNC Primary source HGNC:HGNC:21034 See related Ensembl:ENSG00000123545 MIM:611776; AllianceGenome:HGNC:21034 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 My013; C6orf66; HRPAP20; HSPC125; MC1DN15; bA22L21.1 Summary NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in heart (RPKM 11.9), brain (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
NDUFAF4P2, Official Symbol NDUFAF4P2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44541 See related AllianceGenome:HGNC:44541 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFAF5, Official Symbol NDUFAF5provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase complex assembly factor 5provided by HGNC Primary source HGNC:HGNC:15899 See related Ensembl:ENSG00000101247 MIM:612360; AllianceGenome:HGNC:15899 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 C20orf7; MC1DN16; dJ842G6.1; bA526K24.2 Summary The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in bone marrow (RPKM 2.6), heart (RPKM 1.7) and 25 other tissues See more Orthologs mouse all
NDUFAF6, Official Symbol NDUFAF6provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase complex assembly factor 6provided by HGNC Primary source HGNC:HGNC:28625 See related Ensembl:ENSG00000156170 MIM:612392; AllianceGenome:HGNC:28625 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 FRTS5; C8orf38; MC1DN17 Summary This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in thyroid (RPKM 1.4), testis (RPKM 1.4) and 25 other tissues See more Orthologs mouse all
NDUFAF7, Official Symbol NDUFAF7provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase complex assembly factor 7provided by HGNC Primary source HGNC:HGNC:28816 See related Ensembl:ENSG00000003509 MIM:615898; AllianceGenome:HGNC:28816 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 MidA; C2orf56; PRO1853 Summary This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in testis (RPKM 15.9), fat (RPKM 9.7) and 25 other tissues See more Orthologs mouse all
NDUFAF8, Official Symbol NDUFAF8provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase complex assembly factor 8provided by HGNC Primary source HGNC:HGNC:33551 See related Ensembl:ENSG00000224877 MIM:618461; AllianceGenome:HGNC:33551 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 MC1DN34; C17orf89 Summary Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Implicated in nuclear type mitochondrial complex I deficiency 34. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 16.9), kidney (RPKM 16.4) and 25 other tissues See more Orthologs mouse all
NDUFB1, Official Symbol NDUFB1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B1provided by HGNC Primary source HGNC:HGNC:7695 See related Ensembl:ENSG00000183648 MIM:603837; AllianceGenome:HGNC:7695 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 MNLL; CI-MNLL; CI-SGDH Summary Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion and nuclear speck. Part of mitochondrial respiratory chain complex I. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 82.0), colon (RPKM 69.9) and 25 other tissues See more Orthologs mouse all
NDUFB10, Official Symbol NDUFB10provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B10provided by HGNC Primary source HGNC:HGNC:7696 See related Ensembl:ENSG00000140990 MIM:603843; AllianceGenome:HGNC:7696 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 PDSW; MC1DN35 Summary Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial inner membrane. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 35. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 91.0), kidney (RPKM 64.3) and 25 other tissues See more Orthologs mouse all
NDUFB10P2, Official Symbol NDUFB10P2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B10 pseudogene 2provided by HGNC Primary source HGNC:HGNC:52273 See related Ensembl:ENSG00000261624 AllianceGenome:HGNC:52273 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB11, Official Symbol NDUFB11provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B11provided by HGNC Primary source HGNC:HGNC:20372 See related Ensembl:ENSG00000147123 MIM:300403; AllianceGenome:HGNC:20372 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 ESSS; Np15; P17.3; NP17.3; CI-ESSS; MC1DN30 Summary The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in adrenal (RPKM 29.1), heart (RPKM 25.4) and 25 other tissues See more Orthologs mouse all
NDUFB1P1, Official Symbol NDUFB1P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:30893 See related AllianceGenome:HGNC:30893 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 NDUFB1P; bcm3095
NDUFB1P2, Official Symbol NDUFB1P2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:37815 See related Ensembl:ENSG00000234523 AllianceGenome:HGNC:37815 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB2, Official Symbol NDUFB2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B2provided by HGNC Primary source HGNC:HGNC:7697 See related Ensembl:ENSG00000090266 MIM:603838; AllianceGenome:HGNC:7697 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 AGGG; CI-AGGG Summary The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 93.9), kidney (RPKM 78.0) and 25 other tissues See more Orthologs mouse all
NDUFB2-AS1, Official Symbol NDUFB2-AS1provided by HGNC Official Full Name NDUFB2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40396 See related Ensembl:ENSG00000240889 AllianceGenome:HGNC:40396 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in heart (RPKM 9.2), thyroid (RPKM 7.9) and 25 other tissues See more
NDUFB2P1, Official Symbol NDUFB2P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:52266 See related Ensembl:ENSG00000249074 AllianceGenome:HGNC:52266 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB3, Official Symbol NDUFB3provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B3provided by HGNC Primary source HGNC:HGNC:7698 See related Ensembl:ENSG00000119013 MIM:603839; AllianceGenome:HGNC:7698 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 B12; CI-B12; MC1DN25 Summary This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in kidney (RPKM 29.7), colon (RPKM 28.4) and 24 other tissues See more Orthologs mouse all
NDUFB4, Official Symbol NDUFB4provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4provided by HGNC Primary source HGNC:HGNC:7699 See related Ensembl:ENSG00000065518 MIM:603840; AllianceGenome:HGNC:7699 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 B15; CI-B15 Summary This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009] Expression Ubiquitous expression in adrenal (RPKM 52.4), heart (RPKM 52.2) and 25 other tissues See more Orthologs mouse all
NDUFB4P1, Official Symbol NDUFB4P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:45248 See related Ensembl:ENSG00000242510 AllianceGenome:HGNC:45248 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB4P10, Official Symbol NDUFB4P10provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4 pseudogene 10provided by HGNC Primary source HGNC:HGNC:45258 See related Ensembl:ENSG00000232880 AllianceGenome:HGNC:45258 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB4P11, Official Symbol NDUFB4P11provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4 pseudogene 11provided by HGNC Primary source HGNC:HGNC:45259 See related Ensembl:ENSG00000259374 AllianceGenome:HGNC:45259 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB4P12, Official Symbol NDUFB4P12provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4 pseudogene 12provided by HGNC Primary source HGNC:HGNC:45260 See related Ensembl:ENSG00000124399 AllianceGenome:HGNC:45260 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB4P2, Official Symbol NDUFB4P2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4 pseudogene 2provided by HGNC Primary source HGNC:HGNC:45250 See related Ensembl:ENSG00000251306 AllianceGenome:HGNC:45250 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB4P3, Official Symbol NDUFB4P3provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4 pseudogene 3provided by HGNC Primary source HGNC:HGNC:45251 See related Ensembl:ENSG00000231096 AllianceGenome:HGNC:45251 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB4P4, Official Symbol NDUFB4P4provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4 pseudogene 4provided by HGNC Primary source HGNC:HGNC:45252 See related AllianceGenome:HGNC:45252 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB4P5, Official Symbol NDUFB4P5provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4 pseudogene 5provided by HGNC Primary source HGNC:HGNC:45253 See related Ensembl:ENSG00000226114 AllianceGenome:HGNC:45253 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB4P6, Official Symbol NDUFB4P6provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4 pseudogene 6provided by HGNC Primary source HGNC:HGNC:45254 See related Ensembl:ENSG00000235258 AllianceGenome:HGNC:45254 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB4P7, Official Symbol NDUFB4P7provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4 pseudogene 7provided by HGNC Primary source HGNC:HGNC:45255 See related Ensembl:ENSG00000225428 AllianceGenome:HGNC:45255 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB4P8, Official Symbol NDUFB4P8provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4 pseudogene 8provided by HGNC Primary source HGNC:HGNC:45256 See related Ensembl:ENSG00000223663 AllianceGenome:HGNC:45256 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB4P9, Official Symbol NDUFB4P9provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B4 pseudogene 9provided by HGNC Primary source HGNC:HGNC:45257 See related Ensembl:ENSG00000249754 AllianceGenome:HGNC:45257 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB5, Official Symbol NDUFB5provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B5provided by HGNC Primary source HGNC:HGNC:7700 See related Ensembl:ENSG00000136521 MIM:603841; AllianceGenome:HGNC:7700 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 SGDH; CISGDH Summary The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in heart (RPKM 79.6), fat (RPKM 69.6) and 25 other tissues See more Orthologs mouse all
NDUFB5P1, Official Symbol NDUFB5P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:52267 See related Ensembl:ENSG00000251025 AllianceGenome:HGNC:52267 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB5P2, Official Symbol NDUFB5P2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B5 pseudogene 2provided by HGNC Primary source HGNC:HGNC:52268 See related Ensembl:ENSG00000214628 AllianceGenome:HGNC:52268 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB6, Official Symbol NDUFB6provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B6provided by HGNC Primary source HGNC:HGNC:7701 See related Ensembl:ENSG00000165264 MIM:603322; AllianceGenome:HGNC:7701 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 CI; B17 Summary The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in heart (RPKM 40.7), kidney (RPKM 36.7) and 25 other tissues See more Orthologs mouse all
NDUFB7, Official Symbol NDUFB7provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B7provided by HGNC Primary source HGNC:HGNC:7702 See related Ensembl:ENSG00000099795 MIM:603842; AllianceGenome:HGNC:7702 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 B18; CI-B18; MC1DN39 Summary The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 29.3), heart (RPKM 25.7) and 25 other tissues See more Orthologs mouse all
NDUFB8, Official Symbol NDUFB8provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B8provided by HGNC Primary source HGNC:HGNC:7703 See related Ensembl:ENSG00000166136 MIM:602140; AllianceGenome:HGNC:7703 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 ASHI; CI-ASHI; MC1DN32 Summary Involved in mitochondrial respiratory chain complex I assembly. Located in endoplasmic reticulum and mitochondrion. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 32. Biomarker of Alzheimer's disease and Parkinson's disease. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 90.4), kidney (RPKM 70.2) and 25 other tissues See more Orthologs mouse all
NDUFB8P1, Official Symbol NDUFB8P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B8 pseudogene 1provided by HGNC Primary source HGNC:HGNC:20023 See related Ensembl:ENSG00000258972 AllianceGenome:HGNC:20023 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB8P2, Official Symbol NDUFB8P2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B8 pseudogene 2provided by HGNC Primary source HGNC:HGNC:33978 See related Ensembl:ENSG00000270264 AllianceGenome:HGNC:33978 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB9, Official Symbol NDUFB9provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B9provided by HGNC Primary source HGNC:HGNC:7704 See related Ensembl:ENSG00000147684 MIM:601445; AllianceGenome:HGNC:7704 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 B22; LYRM3; CI-B22; UQOR22; MC1DN24 Summary The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] Expression Ubiquitous expression in heart (RPKM 119.4), kidney (RPKM 111.6) and 25 other tissues See more Orthologs mouse all
NDUFB9P1, Official Symbol NDUFB9P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B9 pseudogene 1provided by HGNC Primary source HGNC:HGNC:52269 See related Ensembl:ENSG00000271045 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFB9P3, Official Symbol NDUFB9P3provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit B9 pseudogene 3provided by HGNC Primary source HGNC:HGNC:52271 See related Ensembl:ENSG00000253994 AllianceGenome:HGNC:52271 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFC1, Official Symbol NDUFC1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit C1provided by HGNC Primary source HGNC:HGNC:7705 See related Ensembl:ENSG00000109390 MIM:603844; AllianceGenome:HGNC:7705 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 KFYI Summary The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Expression Ubiquitous expression in kidney (RPKM 30.2), heart (RPKM 27.3) and 25 other tissues See more Orthologs mouse all
NDUFC2, Official Symbol NDUFC2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit C2provided by HGNC Primary source HGNC:HGNC:7706 See related Ensembl:ENSG00000151366 MIM:603845; AllianceGenome:HGNC:7706 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 HLC-1; B14.5b; MC1DN36; NADHDH2; CI-B14.5b Summary Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 31.9), adrenal (RPKM 29.8) and 25 other tissues See more Orthologs mouse all
NDUFC2-KCTD14, Official Symbol NDUFC2-KCTD14provided by HGNC Official Full Name NDUFC2-KCTD14 readthroughprovided by HGNC Primary source HGNC:HGNC:42956 See related Ensembl:ENSG00000259112 AllianceGenome:HGNC:42956 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 This locus represents naturally occurring read-through transcription between the neighboring NDUFC2 (NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa) and KCTD14 (potassium channel tetramerisation domain containing 14) genes on chromosome 11. The read-through transcripts share sequence identity with the upstream gene product and one variant has a frameshifted C-terminal region derived from the downstream gene exons. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in thyroid (RPKM 27.5), adrenal (RPKM 26.5) and 25 other tissues See more Orthologs all
NDUFS1, Official Symbol NDUFS1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase core subunit S1provided by HGNC Primary source HGNC:HGNC:7707 See related Ensembl:ENSG00000023228 MIM:157655; AllianceGenome:HGNC:7707 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 CI-75k; MC1DN5; CI-75Kd; PRO1304 Summary The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in heart (RPKM 52.2), kidney (RPKM 30.3) and 24 other tissues See more Orthologs mouse all
NDUFS2, Official Symbol NDUFS2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase core subunit S2provided by HGNC Primary source HGNC:HGNC:7708 See related Ensembl:ENSG00000158864 MIM:602985; AllianceGenome:HGNC:7708 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 CI-49; MC1DN6 Summary The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in heart (RPKM 60.3), kidney (RPKM 35.6) and 25 other tissues See more Orthologs mouse all
NDUFS3, Official Symbol NDUFS3provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase core subunit S3provided by HGNC Primary source HGNC:HGNC:7710 See related Ensembl:ENSG00000213619 MIM:603846; AllianceGenome:HGNC:7710 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 CI-30; MC1DN8 Summary This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009] Expression Ubiquitous expression in heart (RPKM 45.6), duodenum (RPKM 44.2) and 25 other tissues See more Orthologs mouse all
NDUFS4, Official Symbol NDUFS4provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit S4provided by HGNC Primary source HGNC:HGNC:7711 See related Ensembl:ENSG00000164258 MIM:602694; AllianceGenome:HGNC:7711 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 AQDQ; CI-18; MC1DN1; CI-AQDQ; CI-18 kDa Summary This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in heart (RPKM 25.7), fat (RPKM 23.7) and 25 other tissues See more Orthologs mouse all