Human Gene SCO1 (ENST00000255390.10) from GENCODE V44
Description: Homo sapiens synthesis of cytochrome C oxidase 1 (SCO1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_004589) RefSeq Summary (NM_004589): Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000255390.10 Gencode Gene: ENSG00000133028.12 Transcript (Including UTRs) Position: hg38 chr17:10,672,474-10,697,533 Size: 25,060 Total Exon Count: 6 Strand: - Coding Region Position: hg38 chr17:10,681,119-10,697,507 Size: 16,389 Coding Exon Count: 6
ID:SCO1_HUMAN DESCRIPTION: RecName: Full=Protein SCO1 homolog, mitochondrial; Flags: Precursor; FUNCTION: Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX. SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Mitochondrion. TISSUE SPECIFICITY: Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain. DISEASE: Defects in SCO1 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome. SIMILARITY: Belongs to the SCO1/2 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCO1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75880
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006091 generation of precursor metabolites and energy GO:0006825 copper ion transport GO:0006878 cellular copper ion homeostasis GO:0008535 respiratory chain complex IV assembly GO:0033617 mitochondrial respiratory chain complex IV assembly GO:1901799 negative regulation of proteasomal protein catabolic process
Cellular Component: GO:0005739 mitochondrion GO:0005743 mitochondrial inner membrane GO:0016020 membrane GO:0016021 integral component of membrane GO:0030016 myofibril GO:0031305 integral component of mitochondrial inner membrane GO:0072492 host cell mitochondrial intermembrane space
Descriptions from all associated GenBank mRNAs
AK127533 - Homo sapiens cDNA FLJ45626 fis, clone BRTHA3028782. AK127981 - Homo sapiens cDNA FLJ46096 fis, clone TESTI2019282. JD081654 - Sequence 62678 from Patent EP1572962. JD476742 - Sequence 457766 from Patent EP1572962. JD053811 - Sequence 34835 from Patent EP1572962. JD158988 - Sequence 140012 from Patent EP1572962. JD483162 - Sequence 464186 from Patent EP1572962. AF131816 - Homo sapiens clone 25222 h-sco1 mRNA sequence, partial cds. AF026852 - Homo sapiens h-sco1 (SCO1) mRNA, nuclear gene encoding mitochondrial protein, complete cds. AK098826 - Homo sapiens cDNA FLJ25960 fis, clone TST08985, highly similar to SCO1 PROTEIN PRECURSOR. AK074588 - Homo sapiens cDNA FLJ90107 fis, clone HEMBA1006482, highly similar to SCO1 protein homolog, mitochondrial precursor. JD323953 - Sequence 304977 from Patent EP1572962. JD501060 - Sequence 482084 from Patent EP1572962. JD267004 - Sequence 248028 from Patent EP1572962. JD431698 - Sequence 412722 from Patent EP1572962. BC015504 - Homo sapiens SCO cytochrome oxidase deficient homolog 1 (yeast), mRNA (cDNA clone MGC:9115 IMAGE:3914068), complete cds. AF183424 - Homo sapiens SCO1/2 protein mRNA, complete cds. JD129266 - Sequence 110290 from Patent EP1572962. JD187776 - Sequence 168800 from Patent EP1572962. JD138793 - Sequence 119817 from Patent EP1572962. JD065009 - Sequence 46033 from Patent EP1572962. JD080696 - Sequence 61720 from Patent EP1572962. JD361589 - Sequence 342613 from Patent EP1572962. JD350794 - Sequence 331818 from Patent EP1572962. JD468936 - Sequence 449960 from Patent EP1572962. JD560349 - Sequence 541373 from Patent EP1572962. KJ892099 - Synthetic construct Homo sapiens clone ccsbBroadEn_01493 SCO1 gene, encodes complete protein. KR709399 - Synthetic construct Homo sapiens clone CCSBHm_00001902 SCO1 (SCO1) mRNA, encodes complete protein. DQ891605 - Synthetic construct clone IMAGE:100004235; FLH178569.01X; RZPDo839E08128D SCO cytochrome oxidase deficient homolog 1 (yeast) (SCO1) gene, encodes complete protein. AK315595 - Homo sapiens cDNA, FLJ96673, Homo sapiens SCO cytochrome oxidase deficient homolog 1 (yeast)(SCO1), nuclear gene encoding mitochondrial protein, mRNA. DQ894798 - Synthetic construct Homo sapiens clone IMAGE:100009258; FLH178565.01L; RZPDo839E08127D SCO cytochrome oxidase deficient homolog 1 (yeast) (SCO1) gene, encodes complete protein.