STAR

Protein identityUniProt · HPA

UniProt accession

P49675

Gene

STAR

Ensembl

ENSG00000147465

Chromosome

8

Canonical length

285 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

285 residues, UniProt reviewed canonical sequence.

>P49675|STAR
     1  MLLATFKLCA GSSYRHMRNM KGLRQQAVMA ISQELNRRAL GGPTPSTWIN QVRRRSSLLG
    61  SRLEETLYSD QELAYLQQGE EAMQKALGIL SNQEGWKKES QQDNGDKVMS KVVPDVGKVF
   121  RLEVVVDQPM ERLYEELVER MEAMGEWNPN VKEIKVLQKI GKDTFITHEL AAEAAGNLVG
   181  PRDFVSVRCA KRRGSTCVLA GMATDFGNMP EQKGVIRAEH GPTCMVLHPL AGSPSKTKLT
   241  WLLSIDLKGW LPKSIINQVL SQTQVDFANH LRKRLESHPA SEARC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against STAR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

3,980 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about STAR.

Disease | AllUniProt

Conditions STAR is implicated in, by any mechanism.

• Adrenal hyperplasia 1 (AH1) MIM:201710

Disease | GeneticClinVar

113 pathogenic / likely-pathogenic of 471 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital lipoid adrenal hyperplasia due to STAR deficency
• STAR-related disorder
• Syndactyly-telecanthus-anogenital and renal malformations syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.61

gnomAD pLI

0

gnomAD missense Z

-0.09

DepMap mean gene effect

0

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cholesterol metabolic process
• glucocorticoid biosynthetic process
• intracellular cholesterol transport
• positive regulation of bile acid biosynthetic process
• regulation of steroid biosynthetic process
• steroid biosynthetic process

Molecular functions

• cholesterol binding
• cholesterol transfer activity

Cellular components

• mitochondrial intermembrane space
• mitochondrial matrix
• mitochondrial outer membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Steroidogenic acute regulatory protein-like
• START domain
• START-like domain superfamily
• START domain
• Steroidogenic acute regulatory protein

KeywordsUniProt

• Congenital adrenal hyperplasia
• Lipid transport
• Lipid-binding
• Membrane
• Mitochondrion
• Mitochondrion outer membrane
• Phosphoprotein
• Steroidogenesis
• Transit peptide
• Transport