Description: Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_000349): The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr8:38,000,218-38,008,600 Size: 8,383 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr8:38,001,791-38,008,336 Size: 6,546 Coding Exon Count: 7
ID:STAR_HUMAN DESCRIPTION: RecName: Full=Steroidogenic acute regulatory protein, mitochondrial; Short=StAR; AltName: Full=START domain-containing protein 1; Short=StARD1; Flags: Precursor; FUNCTION: Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone. PATHWAY: Steroid metabolism; cholesterol metabolism. SUBUNIT: May interact with TSPO (By similarity). SUBCELLULAR LOCATION: Mitochondrion. TISSUE SPECIFICITY: Expressed in gonads, adrenal cortex and kidney. DISEASE: Defects in STAR are the cause of adrenal hyperplasia type 1 (AH1) [MIM:201710]. The most severe form of adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro- opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted. SIMILARITY: Contains 1 START domain. WEB RESOURCE: Name=Wikipedia; Note=Steroidogenic acute regulatory protein entry; URL="http://en.wikipedia.org/wiki/Steroidogenic_acute_regulatory_protein"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/STAR";
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 P49675
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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:0006082 organic acid metabolic process GO:0006694 steroid biosynthetic process GO:0006699 bile acid biosynthetic process GO:0006700 C21-steroid hormone biosynthetic process GO:0006703 estrogen biosynthetic process GO:0006869 lipid transport GO:0007420 brain development GO:0007584 response to nutrient GO:0007623 circadian rhythm GO:0008203 cholesterol metabolic process GO:0008211 glucocorticoid metabolic process GO:0008584 male gonad development GO:0009635 response to herbicide GO:0009636 response to toxic substance GO:0010033 response to organic substance GO:0010212 response to ionizing radiation GO:0010288 response to lead ion GO:0010628 positive regulation of gene expression GO:0014070 response to organic cyclic compound GO:0014823 response to activity GO:0016101 diterpenoid metabolic process GO:0017085 response to insecticide GO:0017143 insecticide metabolic process GO:0018879 biphenyl metabolic process GO:0018894 dibenzo-p-dioxin metabolic process GO:0018958 phenol-containing compound metabolic process GO:0018963 phthalate metabolic process GO:0031667 response to nutrient levels GO:0032367 intracellular cholesterol transport GO:0032869 cellular response to insulin stimulus GO:0034698 response to gonadotropin GO:0035094 response to nicotine GO:0035457 cellular response to interferon-alpha GO:0042493 response to drug GO:0042542 response to hydrogen peroxide GO:0042747 circadian sleep/wake cycle, REM sleep GO:0043434 response to peptide hormone GO:0043524 negative regulation of neuron apoptotic process GO:0043627 response to estrogen GO:0044255 cellular lipid metabolic process GO:0044321 response to leptin GO:0044344 cellular response to fibroblast growth factor stimulus GO:0045471 response to ethanol GO:0046677 response to antibiotic GO:0048168 regulation of neuronal synaptic plasticity GO:0048545 response to steroid hormone GO:0050769 positive regulation of neurogenesis GO:0050810 regulation of steroid biosynthetic process GO:0051412 response to corticosterone GO:0060992 response to fungicide GO:0061370 testosterone biosynthetic process GO:0070859 positive regulation of bile acid biosynthetic process GO:0071222 cellular response to lipopolysaccharide GO:0071236 cellular response to antibiotic GO:0071248 cellular response to metal ion GO:0071276 cellular response to cadmium ion GO:0071312 cellular response to alkaloid GO:0071320 cellular response to cAMP GO:0071333 cellular response to glucose stimulus GO:0071346 cellular response to interferon-gamma GO:0071371 cellular response to gonadotropin stimulus GO:0071372 cellular response to follicle-stimulating hormone stimulus GO:0071373 cellular response to luteinizing hormone stimulus GO:0071378 cellular response to growth hormone stimulus GO:0071407 cellular response to organic cyclic compound GO:0071549 cellular response to dexamethasone stimulus GO:0071560 cellular response to transforming growth factor beta stimulus GO:0071872 cellular response to epinephrine stimulus
LF208060 - JP 2014500723-A/15563: Polycomb-Associated Non-Coding RNAs. MA443637 - JP 2018138019-A/15563: Polycomb-Associated Non-Coding RNAs. HM005654 - Homo sapiens clone HTL-S-241mP testis secretory sperm-binding protein Li 241mP mRNA, complete cds. JD286625 - Sequence 267649 from Patent EP1572962. JD089541 - Sequence 70565 from Patent EP1572962. BC010550 - Homo sapiens steroidogenic acute regulatory protein, mRNA (cDNA clone MGC:17170 IMAGE:4153601), complete cds. AF035277 - Homo sapiens clone 23875 steroidogenic acute regulatory protein mRNA, complete cds. BX647744 - Homo sapiens mRNA; cDNA DKFZp686J09286 (from clone DKFZp686J09286). S79669 - steroidogenic acute regulatoy protein [human, follicle cells, mRNA, 1641 nt]. U17280 - Human steroidogenic acute regulatory protein (StAR) mRNA, complete cds. AK090513 - Homo sapiens cDNA FLJ33194 fis, clone ADRGL2005926, highly similar to STEROIDOGENIC ACUTE REGULATORY PROTEIN PRECURSOR. JD365555 - Sequence 346579 from Patent EP1572962. JD134720 - Sequence 115744 from Patent EP1572962. JD488139 - Sequence 469163 from Patent EP1572962. JD104725 - Sequence 85749 from Patent EP1572962. JD296469 - Sequence 277493 from Patent EP1572962. JD053891 - Sequence 34915 from Patent EP1572962. JD498775 - Sequence 479799 from Patent EP1572962. JD354540 - Sequence 335564 from Patent EP1572962. AY532319 - Homo sapiens steroid acute regulatory protein (STAR) mRNA, partial cds. JD040216 - Sequence 21240 from Patent EP1572962. JD063118 - Sequence 44142 from Patent EP1572962. JD194075 - Sequence 175099 from Patent EP1572962. JD260084 - Sequence 241108 from Patent EP1572962. JD055752 - Sequence 36776 from Patent EP1572962. AK315122 - Homo sapiens cDNA, FLJ96085, highly similar to Homo sapiens steroidogenic acute regulator (STAR), mRNA. CU679741 - Synthetic construct Homo sapiens gateway clone IMAGE:100018729 5' read STAR mRNA. KJ892212 - Synthetic construct Homo sapiens clone ccsbBroadEn_01606 STAR gene, encodes complete protein. KR709369 - Synthetic construct Homo sapiens clone CCSBHm_00001248 STAR (STAR) mRNA, encodes complete protein. KR709370 - Synthetic construct Homo sapiens clone CCSBHm_00001250 STAR (STAR) mRNA, encodes complete protein. KR709371 - Synthetic construct Homo sapiens clone CCSBHm_00001260 STAR (STAR) mRNA, encodes complete protein. KR709372 - Synthetic construct Homo sapiens clone CCSBHm_00001261 STAR (STAR) mRNA, encodes complete protein. CR456803 - Homo sapiens full open reading frame cDNA clone RZPDo834B0219D for gene STAR, steroidogenic acute regulatory protein; complete cds, incl. stopcodon. DQ891806 - Synthetic construct clone IMAGE:100004436; FLH180122.01X; RZPDo839G02132D steroidogenic acute regulator (STAR) gene, encodes complete protein. DQ894990 - Synthetic construct Homo sapiens clone IMAGE:100009450; FLH180118.01L; RZPDo839G02131D steroidogenic acute regulator (STAR) gene, encodes complete protein. CR541850 - Homo sapiens full open reading frame cDNA clone RZPDo834F0332D for gene STAR, steroidogenic acute regulatory protein; complete cds, without stopcodon. KU178337 - Homo sapiens steroidogenic acute regulatory protein isoform 1 (STAR) mRNA, partial cds. KU178338 - Homo sapiens steroidogenic acute regulatory protein isoform 2 (STAR) mRNA, partial cds, alternatively spliced. LF371818 - JP 2014500723-A/179321: Polycomb-Associated Non-Coding RNAs. LF371817 - JP 2014500723-A/179320: Polycomb-Associated Non-Coding RNAs. JD137705 - Sequence 118729 from Patent EP1572962. JD106444 - Sequence 87468 from Patent EP1572962. JD404617 - Sequence 385641 from Patent EP1572962. JD370507 - Sequence 351531 from Patent EP1572962. JD186824 - Sequence 167848 from Patent EP1572962. JD394179 - Sequence 375203 from Patent EP1572962. JD055996 - Sequence 37020 from Patent EP1572962. JD054056 - Sequence 35080 from Patent EP1572962. JD040796 - Sequence 21820 from Patent EP1572962. JD168981 - Sequence 150005 from Patent EP1572962. MA607395 - JP 2018138019-A/179321: Polycomb-Associated Non-Coding RNAs. MA607394 - JP 2018138019-A/179320: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P49675 (Reactome details) participates in the following event(s):
R-HSA-196126 CHOL translocates from cytosol to mitochondrial intermembrane space R-HSA-196086 Cholesterol translocates from mitochondrial intermembrane space to inner mitochondrial membrane R-HSA-196108 Pregnenolone biosynthesis R-HSA-196071 Metabolism of steroid hormones R-HSA-209943 Steroid hormones R-HSA-8957322 Metabolism of steroids R-HSA-556833 Metabolism of lipids R-HSA-1430728 Metabolism