STAR
entrez
6770
canonical
uniprot
P49675
canonical
ensembl
ENSG00000147465
resolver
ensp
ENSP00000276449
resolver
enst
ENST00000276449
resolver
genesymbol
STAR
resolver
genesymbol_syn
STARD1
resolver
hgnc
HGNC:11359
resolver
uniprot
Q16396
resolver
uniprot
Q6IBK0
resolver
uniprot_entry
Q6IBK0_HUMAN
resolver
uniprot_entry
STAR_HUMAN
resolver
uniprot_sec
Q16396
resolver
amino_acid_sequence
MLLATFKLCAGSSYRHMRNMKGLRQQAVMAISQELNRRALGGPTPSTWINQVRRRSSLLGSRLEETLYSDQELAYLQQGEEAMQKALGILSNQEGWKKESQQDNGDKVMSKVVPDVGKVFRLEVVVDQPMERLYEELVERMEAMGEWNPNVKEIKVLQKIGKDTFITHELAAEAAGNLVGPRDFVSVRCAKRRGSTCVLAGMATDFGNMPEQKGVIRAEHGPTCMVLHPLAGSPSKTKLTWLLSIDLKGWLPKSIINQVLSQTQVDFANHLRKRLESHPASEARC
uniprot
proteins
disease_involvement
DISEASE: Adrenal hyperplasia 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. {ECO:0000269|PubMed:10566637, ECO:0000269|PubMed:7892608, ECO:0000269|PubMed:8948562, ECO:0000269|PubMed:9097960}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:12530629, ECO:0000269|PubMed:7761400, ECO:0000269|PubMed:7892608, ECO:0000269|PubMed:8948562}.
uniprot
proteins
mass_dalton
31914
uniprot
proteins
pathway_participation
PATHWAY: Steroid metabolism; cholesterol metabolism. {ECO:0000269|PubMed:12530629, ECO:0000305|PubMed:7761400}.
uniprot
proteins
pubmed
10548884
uniprot
proteins
pubmed
10566637
uniprot
proteins
pubmed
12530629
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21738568
uniprot
proteins
pubmed
7547998
uniprot
proteins
pubmed
7548191
uniprot
proteins
pubmed
7761400
uniprot
proteins
pubmed
7892608
uniprot
proteins
pubmed
8948562
uniprot
proteins
pubmed
9097960
uniprot
proteins
pubmed
9452116
uniprot
proteins
sequence_length
285
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:12530629}. Mitochondrion matrix {ECO:0000269|PubMed:12530629}. Note=Works only on the mitochondrion outer membrane, rather than in the matrix to which it is targeted. {ECO:0000269|PubMed:12530629}.
uniprot
proteins