We will be switching to the new UniProt website soon. Please explore and share your feedback.
Take me to the new website.
UniProtKB - P49675 (STAR_HUMAN)
Protein
Steroidogenic acute regulatory protein, mitochondrial
Gene
STAR
Organism
Homo sapiens (Human)
Status
Functioni
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.
3 PublicationsCatalytic activityi
: cholesterol metabolism Pathwayi
This protein is involved in the pathway cholesterol metabolism, which is part of Steroid metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway cholesterol metabolism and in Steroid metabolism.
GO - Molecular functioni
- cholesterol binding Source: BHF-UCL
- cholesterol transfer activity Source: InterPro
GO - Biological processi
- cellular lipid metabolic process Source: Ensembl
- cholesterol metabolic process Source: UniProtKB-UniPathway
- glucocorticoid metabolic process Source: Ensembl
- intracellular cholesterol transport Source: GO_Central
- positive regulation of bile acid biosynthetic process Source: BHF-UCL
- regulation of steroid biosynthetic process Source: GO_Central
- steroid biosynthetic process Source: GO_Central
Keywordsi
Biological process | Lipid transport, Steroidogenesis, Transport |
Ligand | Lipid-binding |
Enzyme and pathway databases
PathwayCommonsi | P49675 |
Reactomei | R-HSA-196108, Pregnenolone biosynthesis |
SignaLinki | P49675 |
SIGNORi | P49675 |
UniPathwayi | UPA00296 |
Chemistry databases
SwissLipidsi | SLP:000000714 SLP:000000716 |
Names & Taxonomyi
Protein namesi | Recommended name: Steroidogenic acute regulatory protein, mitochondrialShort name: StAR Alternative name(s): START domain-containing protein 1 Short name: StARD1 |
Gene namesi | Name:STAR Synonyms:STARD1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11359, STAR |
MIMi | 600617, gene |
neXtProti | NX_P49675 |
VEuPathDBi | HostDB:ENSG00000147465 |
Subcellular locationi
Mitochondrion
- Mitochondrion By similarity
Mitochondrion
- mitochondrial intermembrane space Source: GO_Central
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Adrenal hyperplasia 1 (AH1)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionThe 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_014236 | 169 | E → G in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs1254559989Ensembl. | 1 | |
Natural variantiVAR_014237 | 169 | E → K in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs747169620EnsemblClinVar. | 1 | |
Natural variantiVAR_005627 | 182 | R → L in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104894086EnsemblClinVar. | 1 | |
Natural variantiVAR_014238 | 217 | R → T in AH1. 1 PublicationCorresponds to variant dbSNP:rs137852689EnsemblClinVar. | 1 | |
Natural variantiVAR_014239 | 218 | A → V in AH1; partial loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852690EnsemblClinVar. | 1 | |
Natural variantiVAR_014240 | 225 | M → T in AH1. 1 PublicationCorresponds to variant dbSNP:rs1446362214Ensembl. | 1 | |
Natural variantiVAR_014241 | 272 | Missing in AH1; partial loss of activity. 1 Publication | 1 | |
Natural variantiVAR_014242 | 275 | L → P in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs762245736EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital adrenal hyperplasia, Disease variantOrganism-specific databases
DisGeNETi | 6770 |
MalaCardsi | STAR |
MIMi | 201710, phenotype |
OpenTargetsi | ENSG00000147465 |
Orphaneti | 325524, Classic congenital lipoid adrenal hyperplasia due to STAR deficency 361, Familial glucocorticoid deficiency 325529, Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency |
PharmGKBi | PA36181 |
Miscellaneous databases
Pharosi | P49675, Tbio |
Genetic variation databases
BioMutai | STAR |
DMDMi | 71152974 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 63 | MitochondrionBy similarityAdd BLAST | 63 | |
ChainiPRO_0000033316 | 64 – 285 | Steroidogenic acute regulatory protein, mitochondrialAdd BLAST | 222 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 57 | Phosphoserine; by PKA1 Publication | 1 | |
Modified residuei | 195 | Phosphoserine; by PKA1 Publication | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P49675 |
MassIVEi | P49675 |
PaxDbi | P49675 |
PeptideAtlasi | P49675 |
PRIDEi | P49675 |
ProteomicsDBi | 56046 |
PTM databases
iPTMneti | P49675 |
PhosphoSitePlusi | P49675 |
Expressioni
Tissue specificityi
Expressed in gonads, adrenal cortex and kidney.
Gene expression databases
Bgeei | ENSG00000147465, Expressed in metanephros and 133 other tissues |
ExpressionAtlasi | P49675, baseline and differential |
Genevisiblei | P49675, HS |
Organism-specific databases
HPAi | ENSG00000147465, Tissue enriched (adrenal) |
Interactioni
Subunit structurei
May interact with TSPO.
By similarityBinary interactionsi
P49675
Protein-protein interaction databases
BioGRIDi | 112647, 11 interactors |
IntActi | P49675, 11 interactors |
STRINGi | 9606.ENSP00000276449 |
Miscellaneous databases
RNActi | P49675, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P49675 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P49675 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 67 – 280 | STARTPROSITE-ProRule annotationAdd BLAST | 214 |
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG3845, Eukaryota |
GeneTreei | ENSGT00940000155477 |
HOGENOMi | CLU_093200_1_0_1 |
InParanoidi | P49675 |
OMAi | PGPSNWI |
OrthoDBi | 1437203at2759 |
PhylomeDBi | P49675 |
TreeFami | TF313869 |
Family and domain databases
CDDi | cd08905, START_STARD1-like, 1 hit |
Gene3Di | 3.30.530.20, 1 hit |
InterProi | View protein in InterPro IPR029866, StAR IPR000799, StAR-like IPR023393, START-like_dom_sf IPR002913, START_lipid-bd_dom |
PANTHERi | PTHR46489, PTHR46489, 1 hit |
Pfami | View protein in Pfam PF01852, START, 1 hit |
PRINTSi | PR00978, STARPROTEIN |
SMARTi | View protein in SMART SM00234, START, 1 hit |
PROSITEi | View protein in PROSITE PS50848, START, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
P49675-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MLLATFKLCA GSSYRHMRNM KGLRQQAVMA ISQELNRRAL GGPTPSTWIN
60 70 80 90 100
QVRRRSSLLG SRLEETLYSD QELAYLQQGE EAMQKALGIL SNQEGWKKES
110 120 130 140 150
QQDNGDKVMS KVVPDVGKVF RLEVVVDQPM ERLYEELVER MEAMGEWNPN
160 170 180 190 200
VKEIKVLQKI GKDTFITHEL AAEAAGNLVG PRDFVSVRCA KRRGSTCVLA
210 220 230 240 250
GMATDFGNMP EQKGVIRAEH GPTCMVLHPL AGSPSKTKLT WLLSIDLKGW
260 270 280
LPKSIINQVL SQTQVDFANH LRKRLESHPA SEARC
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YB94 | H0YB94_HUMAN | START domain-containing protein 1 | STAR | 249 | Annotation score: | ||
E5RH12 | E5RH12_HUMAN | Steroidogenic acute regulatory prot... | STAR | 48 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_034520 | 121 | R → W. Corresponds to variant dbSNP:rs34908868EnsemblClinVar. | 1 | |
Natural variantiVAR_014236 | 169 | E → G in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs1254559989Ensembl. | 1 | |
Natural variantiVAR_014237 | 169 | E → K in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs747169620EnsemblClinVar. | 1 | |
Natural variantiVAR_005627 | 182 | R → L in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104894086EnsemblClinVar. | 1 | |
Natural variantiVAR_005628 | 203 | A → D3 PublicationsCorresponds to variant dbSNP:rs1042854Ensembl. | 1 | |
Natural variantiVAR_014238 | 217 | R → T in AH1. 1 PublicationCorresponds to variant dbSNP:rs137852689EnsemblClinVar. | 1 | |
Natural variantiVAR_014239 | 218 | A → V in AH1; partial loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852690EnsemblClinVar. | 1 | |
Natural variantiVAR_014240 | 225 | M → T in AH1. 1 PublicationCorresponds to variant dbSNP:rs1446362214Ensembl. | 1 | |
Natural variantiVAR_014241 | 272 | Missing in AH1; partial loss of activity. 1 Publication | 1 | |
Natural variantiVAR_014242 | 275 | L → P in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs762245736EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U17280 mRNA Translation: AAC50141.1 U29105 , U29099, U29100, U29101, U29102, U29103, U29104 Genomic DNA Translation: AAC50234.1 S79669 mRNA Translation: AAB35726.1 AF035277 mRNA Translation: AAB88174.1 BC010550 mRNA Translation: AAH10550.1 |
CCDSi | CCDS6102.1 |
PIRi | I38248 |
RefSeqi | NP_000340.2, NM_000349.2 |
Genome annotation databases
Ensembli | ENST00000276449; ENSP00000276449; ENSG00000147465 |
GeneIDi | 6770 |
KEGGi | hsa:6770 |
MANE-Selecti | ENST00000276449.9; ENSP00000276449.3; NM_000349.3; NP_000340.2 |
Similar proteinsi
Cross-referencesi
Web resourcesi
Wikipedia Steroidogenic acute regulatory protein entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U17280 mRNA Translation: AAC50141.1 U29105 , U29099, U29100, U29101, U29102, U29103, U29104 Genomic DNA Translation: AAC50234.1 S79669 mRNA Translation: AAB35726.1 AF035277 mRNA Translation: AAB88174.1 BC010550 mRNA Translation: AAH10550.1 |
CCDSi | CCDS6102.1 |
PIRi | I38248 |
RefSeqi | NP_000340.2, NM_000349.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3P0L | X-ray | 3.40 | A/B/C/D | 66-284 | [»] | |
5OMA | X-ray | 3.90 | A/B/C/D | 54-62 | [»] | |
6T5F | X-ray | 2.63 | E/F/G/H | 192-200 | [»] | |
6T5H | X-ray | 2.04 | A/B | 54-62 | [»] | |
SMRi | P49675 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112647, 11 interactors |
IntActi | P49675, 11 interactors |
STRINGi | 9606.ENSP00000276449 |
Chemistry databases
SwissLipidsi | SLP:000000714 SLP:000000716 |
PTM databases
iPTMneti | P49675 |
PhosphoSitePlusi | P49675 |
Genetic variation databases
BioMutai | STAR |
DMDMi | 71152974 |
Proteomic databases
EPDi | P49675 |
MassIVEi | P49675 |
PaxDbi | P49675 |
PeptideAtlasi | P49675 |
PRIDEi | P49675 |
ProteomicsDBi | 56046 |
Protocols and materials databases
Antibodypediai | 23510, 326 antibodies from 35 providers |
DNASUi | 6770 |
Genome annotation databases
Ensembli | ENST00000276449; ENSP00000276449; ENSG00000147465 |
GeneIDi | 6770 |
KEGGi | hsa:6770 |
MANE-Selecti | ENST00000276449.9; ENSP00000276449.3; NM_000349.3; NP_000340.2 |
Organism-specific databases
CTDi | 6770 |
DisGeNETi | 6770 |
GeneCardsi | STAR |
HGNCi | HGNC:11359, STAR |
HPAi | ENSG00000147465, Tissue enriched (adrenal) |
MalaCardsi | STAR |
MIMi | 201710, phenotype 600617, gene |
neXtProti | NX_P49675 |
OpenTargetsi | ENSG00000147465 |
Orphaneti | 325524, Classic congenital lipoid adrenal hyperplasia due to STAR deficency 361, Familial glucocorticoid deficiency 325529, Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency |
PharmGKBi | PA36181 |
VEuPathDBi | HostDB:ENSG00000147465 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3845, Eukaryota |
GeneTreei | ENSGT00940000155477 |
HOGENOMi | CLU_093200_1_0_1 |
InParanoidi | P49675 |
OMAi | PGPSNWI |
OrthoDBi | 1437203at2759 |
PhylomeDBi | P49675 |
TreeFami | TF313869 |
Enzyme and pathway databases
UniPathwayi | UPA00296 |
PathwayCommonsi | P49675 |
Reactomei | R-HSA-196108, Pregnenolone biosynthesis |
SignaLinki | P49675 |
SIGNORi | P49675 |
Miscellaneous databases
BioGRID-ORCSi | 6770, 6 hits in 1042 CRISPR screens |
ChiTaRSi | STAR, human |
EvolutionaryTracei | P49675 |
GenomeRNAii | 6770 |
Pharosi | P49675, Tbio |
PROi | PR:P49675 |
RNActi | P49675, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000147465, Expressed in metanephros and 133 other tissues |
ExpressionAtlasi | P49675, baseline and differential |
Genevisiblei | P49675, HS |
Family and domain databases
CDDi | cd08905, START_STARD1-like, 1 hit |
Gene3Di | 3.30.530.20, 1 hit |
InterProi | View protein in InterPro IPR029866, StAR IPR000799, StAR-like IPR023393, START-like_dom_sf IPR002913, START_lipid-bd_dom |
PANTHERi | PTHR46489, PTHR46489, 1 hit |
Pfami | View protein in Pfam PF01852, START, 1 hit |
PRINTSi | PR00978, STARPROTEIN |
SMARTi | View protein in SMART SM00234, START, 1 hit |
PROSITEi | View protein in PROSITE PS50848, START, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | STAR_HUMAN | |
Accessioni | P49675Primary (citable) accession number: P49675 Secondary accession number(s): Q16396 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1996 |
Last sequence update: | July 19, 2005 | |
Last modified: | February 23, 2022 | |
This is version 203 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references