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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.

Pathway:icholesterol 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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Lipid transport, Steroidogenesis, Transport

Keywords - Ligandi

Lipid-binding

Enzyme and pathway databases

ReactomeiREACT_11038. Pregnenolone biosynthesis.
UniPathwayiUPA00296.

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
ProteomesiUP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:11359. STAR.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti169 – 1691E → G in AH1; partial loss of activity. 1 Publication
VAR_014236
Natural varianti169 – 1691E → K in AH1; partial loss of activity. 1 Publication
VAR_014237
Natural varianti182 – 1821R → L in AH1; partial loss of activity. 1 Publication
VAR_005627
Natural varianti217 – 2171R → T in AH1. 1 Publication
Corresponds to variant rs28938471 [ dbSNP | Ensembl ].
VAR_014238
Natural varianti218 – 2181A → V in AH1; partial loss of activity. 3 Publications
VAR_014239
Natural varianti225 – 2251M → T in AH1. 1 Publication
VAR_014240
Natural varianti272 – 2721Missing in AH1; partial loss of activity. 1 Publication
VAR_014241
Natural varianti275 – 2751L → P in AH1; partial loss of activity. 1 Publication
VAR_014242

Keywords - Diseasei

Congenital adrenal hyperplasia, Disease mutation

Organism-specific databases

MIMi201710. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 6363MitochondrionBy similarityAdd
BLAST
Chaini64 – 285222Steroidogenic acute regulatory protein, mitochondrialPRO_0000033316Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei57 – 571Phosphoserine; by PKA1 Publication
Modified residuei195 – 1951Phosphoserine; by PKA1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP49675.
PaxDbiP49675.
PRIDEiP49675.

PTM databases

PhosphoSiteiP49675.

Expressioni

Tissue specificityi

Expressed in gonads, adrenal cortex and kidney.

Gene expression databases

BgeeiP49675.
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

WithEntry#Exp.IntActNotes
MAGEA11P43364-23EBI-722932,EBI-10178634

Protein-protein interaction databases

BioGridi112647. 5 interactions.
IntActiP49675. 3 interactions.
MINTiMINT-1403878.
STRINGi9606.ENSP00000276449.

Structurei

Secondary structure

1
285
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi70 – 9122Combined sources
Beta strandi97 – 1015Combined sources
Beta strandi107 – 1126Combined sources
Beta strandi114 – 1163Combined sources
Beta strandi118 – 12811Combined sources
Helixi130 – 1378Combined sources
Turni138 – 1403Combined sources
Helixi141 – 1433Combined sources
Beta strandi152 – 1598Combined sources
Beta strandi161 – 17111Combined sources
Beta strandi182 – 19211Combined sources
Beta strandi197 – 1993Combined sources
Beta strandi215 – 2173Combined sources
Beta strandi224 – 2307Combined sources
Beta strandi233 – 24311Combined sources
Helixi253 – 27422Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1IMGmodel-A67-280[»]
2I93model-A67-280[»]
3P0LX-ray3.40A/B/C/D66-284[»]
ProteinModelPortaliP49675.
SMRiP49675. Positions 66-276.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP49675.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini67 – 280214STARTPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 START domain.PROSITE-ProRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiNOG239518.
GeneTreeiENSGT00530000063139.
HOGENOMiHOG000142452.
HOVERGENiHBG010529.
InParanoidiP49675.
KOiK16931.
OMAiATFKLCA.
OrthoDBiEOG74FF0Z.
PhylomeDBiP49675.
TreeFamiTF313869.

Family and domain databases

Gene3Di3.30.530.20. 1 hit.
InterProiIPR029866. StAR.
IPR000799. StAR-like.
IPR023393. START-like_dom.
IPR002913. START_lipid-bd_dom.
[Graphical view]
PANTHERiPTHR12136:SF9. PTHR12136:SF9. 1 hit.
PfamiPF01852. START. 1 hit.
[Graphical view]
PRINTSiPR00978. STARPROTEIN.
SMARTiSM00234. START. 1 hit.
[Graphical view]
PROSITEiPS50848. START. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti121 – 1211R → W.
Corresponds to variant rs34908868 [ dbSNP | Ensembl ].
VAR_034520
Natural varianti169 – 1691E → G in AH1; partial loss of activity. 1 Publication
VAR_014236
Natural varianti169 – 1691E → K in AH1; partial loss of activity. 1 Publication
VAR_014237
Natural varianti182 – 1821R → L in AH1; partial loss of activity. 1 Publication
VAR_005627
Natural varianti203 – 2031A → D.3 Publications
Corresponds to variant rs1042854 [ dbSNP | Ensembl ].
VAR_005628
Natural varianti217 – 2171R → T in AH1. 1 Publication
Corresponds to variant rs28938471 [ dbSNP | Ensembl ].
VAR_014238
Natural varianti218 – 2181A → V in AH1; partial loss of activity. 3 Publications
VAR_014239
Natural varianti225 – 2251M → T in AH1. 1 Publication
VAR_014240
Natural varianti272 – 2721Missing in AH1; partial loss of activity. 1 Publication
VAR_014241
Natural varianti275 – 2751L → P in AH1; partial loss of activity. 1 Publication
VAR_014242

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.
UCSCiuc003xkv.1. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS6102.1.
PIRiI38248.
RefSeqiNP_000340.2. NM_000349.2.
UniGeneiHs.521535.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1IMGmodel-A67-280[»]
2I93model-A67-280[»]
3P0LX-ray3.40A/B/C/D66-284[»]
ProteinModelPortaliP49675.
SMRiP49675. Positions 66-276.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112647. 5 interactions.
IntActiP49675. 3 interactions.
MINTiMINT-1403878.
STRINGi9606.ENSP00000276449.

PTM databases

PhosphoSiteiP49675.

Polymorphism and mutation databases

BioMutaiSTAR.
DMDMi71152974.

Proteomic databases

MaxQBiP49675.
PaxDbiP49675.
PRIDEiP49675.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000276449; ENSP00000276449; ENSG00000147465.
GeneIDi6770.
KEGGihsa:6770.
UCSCiuc003xkv.1. human.

Organism-specific databases

CTDi6770.
GeneCardsiGC08M038018.
HGNCiHGNC:11359. STAR.
HPAiCAB032598.
HPA023644.
HPA027318.
MIMi201710. phenotype.
600617. gene.
neXtProtiNX_P49675.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG239518.
GeneTreeiENSGT00530000063139.
HOGENOMiHOG000142452.
HOVERGENiHBG010529.
InParanoidiP49675.
KOiK16931.
OMAiATFKLCA.
OrthoDBiEOG74FF0Z.
PhylomeDBiP49675.
TreeFamiTF313869.

Enzyme and pathway databases

UniPathwayiUPA00296.
ReactomeiREACT_11038. Pregnenolone biosynthesis.

Miscellaneous databases

ChiTaRSiSTAR. human.
EvolutionaryTraceiP49675.
GenomeRNAii6770.
NextBioi26420.
PROiP49675.
SOURCEiSearch...

Gene expression databases

BgeeiP49675.
CleanExiHS_STAR.
ExpressionAtlasiP49675. baseline and differential.
GenevisibleiP49675. HS.

Family and domain databases

Gene3Di3.30.530.20. 1 hit.
InterProiIPR029866. StAR.
IPR000799. StAR-like.
IPR023393. START-like_dom.
IPR002913. START_lipid-bd_dom.
[Graphical view]
PANTHERiPTHR12136:SF9. PTHR12136:SF9. 1 hit.
PfamiPF01852. START. 1 hit.
[Graphical view]
PRINTSiPR00978. STARPROTEIN.
SMARTiSM00234. START. 1 hit.
[Graphical view]
PROSITEiPS50848. START. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13."
    Sugawara T., Holt J.A., Driscoll D., Strauss J.F. III, Lin D., Miller W.L., Patterson D., Clancy K.P., Hart I.M., Clark B.J., Stocco D.M.
    Proc. Natl. Acad. Sci. U.S.A. 92:4778-4782(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ASP-203.
    Tissue: Adrenal cortex.
  2. "Structure of the human steroidogenic acute regulatory protein (StAR) gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity."
    Sugawara T., Lin D., Holt J.A., Martin K.O., Javitt N.B., Miller W.L., Strauss J.F. III
    Biochemistry 34:12506-12512(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASP-203.
    Tissue: Placenta.
  3. "The human steroidogenic acute regulatory (StAR) gene is expressed in the urogenital system and encodes a mitochondrial polypeptide."
    Gradi A., Tang-Wai R., McBride H.M., Chu L.L., Shore G.C., Pelletier J.
    Biochim. Biophys. Acta 1258:228-233(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. Yu W., Sarginson J., Gibbs R.A.
    Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  6. "The steroidogenic acute regulatory protein (StAR): a window into the complexities of intracellular cholesterol trafficking."
    Strauss J.F. III, Kallen C.B., Christenson L.K., Watari H., Devoto L., Arakane F., Kiriakidou M., Sugawara T.
    Recent Prog. Horm. Res. 54:369-394(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-57 AND SER-195.
  7. Cited for: X-RAY CRYSTALLOGRAPHY (3.40 ANGSTROMS) OF 66-284.
  8. "The pathophysiology and genetics of congenital lipoid adrenal hyperplasia."
    Bose H.S., Sugawara T., Strauss J.F. III, Miller W.L.
    N. Engl. J. Med. 335:1870-1878(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH1 GLY-169; LYS-169; LEU-182; VAL-218; ARG-272 DEL AND PRO-275, CHARACTERIZATION OF VARIANTS.
  9. "Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia."
    Nakae J., Tajima T., Sugawara T., Arakane F., Hanaki K., Hotsubo T., Igarashi N., Igarashi Y., Ishii T., Koda N., Kondo T., Kohno H., Nakagawa Y., Tachibana K., Takeshima Y., Tsubouchi K., Strauss J.F. III, Fujieda K.
    Hum. Mol. Genet. 6:571-576(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH1 VAL-218 AND THR-225.
  10. "A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia."
    Katsumata N., Tanae A., Shinagawa T., Nagashima-Miyokawa A., Shimizu M., Yasunaga T., Tanaka T., Hibi I.
    Hum. Mutat. Suppl. 1:S304-S307(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASP-203.
  11. "A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia."
    Katsumata N., Kawada Y., Yamamoto Y., Noda M., Nimura A., Horikawa R., Tanaka T.
    J. Clin. Endocrinol. Metab. 84:3983-3987(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH1 THR-217 AND VAL-218.

Entry informationi

Entry nameiSTAR_HUMAN
AccessioniPrimary (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: July 22, 2015
This is version 157 of the entry and version 2 of the sequence. [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
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.