- MIR34BHG [Search on AGR]
Homo sapiens INVOLVED IN miRNA-mediated post-transcriptional gene silencing (inferred); ASSOCIATED WITH ataxia telangiectasia; BH4-deficient hyperphenylalaninemia A; Carney-Stratakis syndrome
- sdhd-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Contributes to succinate dehydrogenase (quinone) activity. Predicted to be involved in mitochondrial electron transport, succinate to ubiquinone and tricarboxylic acid cycle. Predicted to be located in mitochondrial inner membrane. Predicted to be part of respiratory chain complex II (succinate dehydrogenase). Human ortholog(s) of this gene implicated in Carney-Stratakis syndrome; mitochondrial complex II deficiency; and paraganglioma. Is an ortholog of human SDHD (succinate dehydrogenase complex subunit D).
- kin-2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable cAMP binding activity; cAMP-dependent protein kinase inhibitor activity; and protein kinase A catalytic subunit binding activity. Involved in several processes, including medium-term memory; negative regulation of oocyte maturation; and negative regulation of protein kinase C signaling. Located in cytosol and membrane. Part of cAMP-dependent protein kinase complex. Expressed in body wall musculature; hypodermis; and intestine. Human ortholog(s) of this gene implicated in Carney complex; acrodysostosis; and primary pigmented nodular adrenocortical disease. Is an ortholog of human PRKAR1B (protein kinase cAMP-dependent type I regulatory subunit beta).
- mev-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Contributes to succinate dehydrogenase (quinone) activity. Involved in several processes, including defense response to other organism; determination of adult lifespan; and regulation of response to oxidative stress. Located in mitochondrion. Human ortholog(s) of this gene implicated in several diseases, including Carney-Stratakis syndrome; gastrointestinal stromal tumor; and paraganglioma. Is an ortholog of human SDHC (succinate dehydrogenase complex subunit C).
- sdhb-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Contributes to succinate dehydrogenase (quinone) activity. Predicted to be involved in aerobic respiration and respiratory electron transport chain. Located in mitochondrion. Expressed in head and tail. Used to study paraganglioma. Human ortholog(s) of this gene implicated in several diseases, including Carney-Stratakis syndrome; gastrointestinal stromal tumor; and mitochondrial complex II deficiency. Is an ortholog of human SDHB (succinate dehydrogenase complex iron sulfur subunit B).
- SdhB [Search on AGR]
Rattus norvegicus Enables succinate dehydrogenase (quinone) activity. Involved in respiratory electron transport chain and succinate metabolic process. Located in mitochondrial inner membrane. Biomarker of acute myocardial infarction. Human ortholog(s) of this gene implicated in Carney-Stratakis syndrome; gastrointestinal stromal tumor; mitochondrial complex II deficiency; paraganglioma; and pheochromocytoma. Orthologous to human SDHB (succinate dehydrogenase complex iron sulfur subunit B); PARTICIPATES IN altered citric acid cycle pathway; citric acid cycle pathway; electron transport chain pathway; INTERACTS WITH 2,2,2-tetramine; 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil.
- SdhC [Search on AGR]
Rattus norvegicus Predicted to enable heme binding activity. Predicted to be involved in mitochondrial electron transport, succinate to ubiquinone. Predicted to be located in mitochondrial inner membrane. Predicted to be part of respiratory chain complex II (succinate dehydrogenase). Human ortholog(s) of this gene implicated in Carney-Stratakis syndrome; gastrointestinal stromal tumor; lung non-small cell carcinoma; and paraganglioma. Orthologous to human SDHC (succinate dehydrogenase complex subunit C); PARTICIPATES IN citric acid cycle pathway; electron transport chain pathway; fumaric aciduria pathway; INTERACTS WITH 5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole; 6-propyl-2-thiouracil; amiodarone.
- Prkar1a [Search on AGR]
Rattus norvegicus Enables cAMP binding activity and cAMP-dependent protein kinase regulator activity. Involved in female meiotic nuclear division and negative regulation of meiotic nuclear division. Part of cAMP-dependent protein kinase complex. Human ortholog(s) of this gene implicated in Carney complex; acrodysostosis; and primary pigmented nodular adrenocortical disease. Orthologous to human PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha); PARTICIPATES IN acebutolol pharmacodynamics pathway; adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway; amiodarone pharmacodynamics pathway; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol 3-benzoate; 2,3,7,8-tetrachlorodibenzodioxine.
- SdhD [Search on AGR]
Rattus norvegicus Predicted to enable heme binding activity; succinate dehydrogenase (quinone) activity; and ubiquinone binding activity. Predicted to be involved in mitochondrial electron transport, succinate to ubiquinone and tricarboxylic acid cycle. Predicted to act upstream of or within cellular response to hypoxia and regulation of catecholamine secretion. Predicted to be located in mitochondrial inner membrane. Predicted to be part of respiratory chain complex II (succinate dehydrogenase). Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in Carney-Stratakis syndrome; mitochondrial complex II deficiency; and paraganglioma. Orthologous to human SDHD (succinate dehydrogenase complex subunit D); PARTICIPATES IN altered citric acid cycle pathway; citric acid cycle pathway; electron transport chain pathway; INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole.
- Prkar1a [Search on AGR]
Homo sapiens cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]