{"doi":"10.1507/endocrj.k05-174","title":"Replacement of Alanine with Asparagic Acid at Position 203 in Human Steroidogenic Acute Regulatory Protein Impairs the Ability to Enhance Steroidogenesis in vitro","abstract":null,"journal":"Endocrine Journal","year":2006,"id":47175,"datarank":0.6921206177233128,"base_score":2.302585092994046,"endowment":2.302585092994046,"self_citation_contribution":0.3453877639491069,"citation_network_contribution":0.3467328537742058,"self_endowment_contribution":0.3453877639491069,"citer_contribution":0.3467328537742058,"corpus_percentile":null,"corpus_rank":null,"citation_count":9,"citer_count":9,"citers_with_citation_signal":6,"citers_with_endowment":6,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":217738,"name":"Reiko HORIKAWA","orcid":null,"position":1,"is_corresponding":false},{"id":217739,"name":"Toshiaki TANAKA","orcid":null,"position":2,"is_corresponding":false},{"id":217737,"name":"Noriyuki KATSUMATA","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Replacement of Alanine with Asparagic Acid at Position 203 in Human Steroidogenic Acute Regulatory Protein Impairs the Ability to Enhance Steroidogenesis in vitro","abstract":"Steroidogenic acute regulatory protein (StAR) is a 30-kDa phosphorylated protein that rapidly appears in mitochondria of steroidogenic cells following tropic stimulation, and is required in the acute regulation of steroidogenesis. It was reported that mutations in the STAR gene encoding StAR cause congenital lipoid adrenal hyperplasia (CLAH), an autosomal recessive disorder characterized by impaired synthesis of all adrenal and gonadal steroid hormones. We previously reported a D203A polymorphism in the STAR gene in Japanese patients with CLAH as well as in normal Japanese subjects. In the present study, we analyzed the ability of the A203 StAR and D203 StAR to stimulate steroidogenesis using the in vitro functional expression system. The A203 StAR caused a twelve-fold increase in pregnenolone secretion over COS-1 cells transfected with an NH2-cholesterol side-chain cleavage enzyme (P450scc)-adrenodoxin reductase-adrenodoxin-COOH fusion protein expressing plasmid (F2) and an empty vector, whereas the D203 StAR increased pregnenolone production no more than threefold. Western blot analysis detected mainly two species of StAR consisting of the 37-kDa precursor and the 30-kDa mature form. Together, these results indicate that the alanine at position 203 in human StAR is functionally important and that the D203 StAR is extremely unlikely to be a polymorphism.","is_dataset_classified":null,"base_score":2.302585092994046,"endowment":2.302585092994046,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"16723808","pmcid":null,"openalex_id":"https://openalex.org/W2041858914","authors":[],"funders":[],"total_grants":0,"fwci":0.5403,"citation_percentile":0.64248376,"influential_citations":0,"citation_trend":[{"year":2014,"count":1},{"year":2017,"count":2},{"year":2024,"count":1}],"oa_status":"bronze","license":null,"oa_locations":[{"url":"https://www.jstage.jst.go.jp/article/endocrj/53/3/53_3_427/_pdf","host_type":"journal"},{"url":"https://www.jstage.jst.go.jp/article/endocrj/53/3/53_3_427/_pdf","host_type":"BRONZE"},{"url":"https://www.jstage.jst.go.jp/article/endocrj/53/3/53_3_427/_pdf","host_type":"publisher"},{"url":"http://www.jstage.jst.go.jp/article/endocrj/53/3/53_3_427/_pdf","host_type":"publisher"},{"url":"https://doi.org/10.1507/endocrj.k05-174","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/16723808","host_type":"repository"}],"fields_of_study":["Sexual Differentiation and Disorders","Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","Hormonal and reproductive studies","Medicine","Biology","Alanine","Amino Acid Substitution","Animals","Asparagine","COS Cells","Chlorocebus aethiops","Humans","Phosphoproteins","Pregnenolone","Steroids","Transfection","Steroidogenic Acute Regulatory Protein"],"mesh_terms":["Steroidogenic Acute Regulatory Protein","Alanine","Animals","Asparagine","Chlorocebus aethiops","Humans","Phosphoproteins","Pregnenolone","Steroids","Transfection","COS Cells","Amino Acid Substitution"],"keywords":["Steroidogenic acute regulatory protein","Cholesterol side-chain cleavage enzyme","Pregnenolone","Adrenodoxin","Biology","Transfection","Molecular biology","Internal medicine","Gene","Endocrinology","Hormone","Gene expression","Biochemistry","Steroid","Messenger RNA","Medicine","Cytochrome P450","Metabolism"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-17T12:37:52.199220Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}