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Protein

Steroidogenic acute regulatory protein, mitochondrial

Gene

STAR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.

Pathwayi: cholesterol metabolism

This protein is involved in the pathway cholesterol metabolism, which is part of Steroid metabolism.
View 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 transporter activity Source: InterPro

GO - Biological processi

Keywordsi

Biological processLipid transport, Steroidogenesis, Transport
LigandLipid-binding

Enzyme and pathway databases

ReactomeiR-HSA-196108. Pregnenolone biosynthesis.
UniPathwayiUPA00296.

Chemistry databases

SwissLipidsiSLP:000000714.
SLP:000000716.

Names & Taxonomyi

Protein namesi
Recommended name:
Steroidogenic acute regulatory protein, mitochondrial
Short name:
StAR
Alternative name(s):
START domain-containing protein 1
Short name:
StARD1
Gene namesi
Name:STAR
Synonyms:STARD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:11359. STAR.

Subcellular locationi

GO - Cellular componenti

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Adrenal hyperplasia 1 (AH1)3 Publications
The disease is caused by mutations 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.
See also OMIM:201710
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_014236169E → G in AH1; partial loss of activity. 1 Publication1
Natural variantiVAR_014237169E → K in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs747169620Ensembl.1
Natural variantiVAR_005627182R → L in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104894086Ensembl.1
Natural variantiVAR_014238217R → T in AH1. 1 Publication1
Natural variantiVAR_014239218A → V in AH1; partial loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852690Ensembl.1
Natural variantiVAR_014240225M → T in AH1. 1 Publication1
Natural variantiVAR_014241272Missing in AH1; partial loss of activity. 1 Publication1
Natural variantiVAR_014242275L → P in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs762245736Ensembl.1

Keywords - Diseasei

Congenital adrenal hyperplasia, Disease mutation

Organism-specific databases

DisGeNETi6770.
MalaCardsiSTAR.
MIMi201710. phenotype.
OpenTargetsiENSG00000147465.
Orphaneti325524. Classic congenital lipoid adrenal hyperplasia due to STAR deficency.
361. Familial glucocorticoid deficiency.
325529. Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency.
PharmGKBiPA36181.

Polymorphism and mutation databases

BioMutaiSTAR.
DMDMi71152974.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 63MitochondrionBy similarityAdd BLAST63
ChainiPRO_000003331664 – 285Steroidogenic acute regulatory protein, mitochondrialAdd BLAST222

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei57Phosphoserine; by PKA1 Publication1
Modified residuei195Phosphoserine; by PKA1 Publication1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP49675.
PaxDbiP49675.
PeptideAtlasiP49675.
PRIDEiP49675.

PTM databases

iPTMnetiP49675.
PhosphoSitePlusiP49675.

Expressioni

Tissue specificityi

Expressed in gonads, adrenal cortex and kidney.

Gene expression databases

BgeeiENSG00000147465.
CleanExiHS_STAR.
ExpressionAtlasiP49675. baseline and differential.
GenevisibleiP49675. HS.

Organism-specific databases

HPAiCAB032598.
HPA023644.
HPA027318.

Interactioni

Subunit structurei

May interact with TSPO.By similarity

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi112647. 5 interactors.
IntActiP49675. 8 interactors.
MINTiMINT-1403878.
STRINGi9606.ENSP00000276449.

Structurei

Secondary structure

1285
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi70 – 91Combined sources22
Beta strandi97 – 101Combined sources5
Beta strandi107 – 112Combined sources6
Beta strandi114 – 116Combined sources3
Beta strandi118 – 128Combined sources11
Helixi130 – 137Combined sources8
Turni138 – 140Combined sources3
Helixi141 – 143Combined sources3
Beta strandi152 – 159Combined sources8
Beta strandi161 – 171Combined sources11
Beta strandi182 – 192Combined sources11
Beta strandi197 – 199Combined sources3
Beta strandi215 – 217Combined sources3
Beta strandi224 – 230Combined sources7
Beta strandi233 – 243Combined sources11
Helixi253 – 274Combined sources22

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1IMGmodel-A67-280[»]
2I93model-A67-280[»]
3P0LX-ray3.40A/B/C/D66-284[»]
ProteinModelPortaliP49675.
SMRiP49675.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP49675.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini67 – 280STARTPROSITE-ProRule annotationAdd BLAST214

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3845. Eukaryota.
ENOG41100B5. LUCA.
GeneTreeiENSGT00530000063139.
HOGENOMiHOG000142452.
HOVERGENiHBG010529.
InParanoidiP49675.
KOiK16931.
OMAiATFKLCA.
OrthoDBiEOG091G06RM.
PhylomeDBiP49675.
TreeFamiTF313869.

Family and domain databases

CDDicd08905. START_STARD1-like. 1 hit.
Gene3Di3.30.530.20. 1 hit.
InterProiView protein in InterPro
IPR029866. StAR.
IPR000799. StAR-like.
IPR023393. START-like_dom.
IPR002913. START_lipid-bd_dom.
PANTHERiPTHR12136:SF74. PTHR12136:SF74. 1 hit.
PfamiView protein in Pfam
PF01852. START. 1 hit.
PRINTSiPR00978. STARPROTEIN.
SMARTiView protein in SMART
SM00234. START. 1 hit.
PROSITEiView protein in PROSITE
PS50848. START. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P49675-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:285
Mass (Da):31,914
Last modified:July 19, 2005 - v2
Checksum:i2683086C20DE88AB
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034520121R → W. Corresponds to variant dbSNP:rs34908868Ensembl.1
Natural variantiVAR_014236169E → G in AH1; partial loss of activity. 1 Publication1
Natural variantiVAR_014237169E → K in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs747169620Ensembl.1
Natural variantiVAR_005627182R → L in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104894086Ensembl.1
Natural variantiVAR_005628203A → D3 PublicationsCorresponds to variant dbSNP:rs1042854Ensembl.1
Natural variantiVAR_014238217R → T in AH1. 1 Publication1
Natural variantiVAR_014239218A → V in AH1; partial loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852690Ensembl.1
Natural variantiVAR_014240225M → T in AH1. 1 Publication1
Natural variantiVAR_014241272Missing in AH1; partial loss of activity. 1 Publication1
Natural variantiVAR_014242275L → P in AH1; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs762245736Ensembl.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.
CCDSiCCDS6102.1.
PIRiI38248.
RefSeqiNP_000340.2. NM_000349.2.
UniGeneiHs.521535.

Genome annotation databases

EnsembliENST00000276449; ENSP00000276449; ENSG00000147465.
GeneIDi6770.
KEGGihsa:6770.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiSTAR_HUMAN
AccessioniPrimary (citable) accession number: P49675
Secondary accession number(s): Q16396
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: July 19, 2005
Last modified: July 5, 2017
This is version 173 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references