Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 6770
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol STAR   Gene   UCSC   Ensembl
Aliases STARD1
Gene name steroidogenic acute regulatory protein
Alternate names steroidogenic acute regulatory protein, mitochondrial, START domain containing 1, START domain-containing protein 1, StAR related lipid transfer (START) domain containing 1, cholesterol trafficker, mitochondrial steroid acute regulatory protein, steroid acute r,
Gene location 8p11.23 (38151264: 38141746)     Exons: 7     NC_000008.11
Gene summary(Entrez) 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]
OMIM 600617

Protein Summary
Protein general information P49675  

Name: Steroidogenic acute regulatory protein, mitochondrial (StAR) (START domain containing protein 1) (StARD1)

Length: 285  Mass: 31,914

Tissue specificity: Expressed in gonads, adrenal cortex and kidney.

Sequence MLLATFKLCAGSSYRHMRNMKGLRQQAVMAISQELNRRALGGPTPSTWINQVRRRSSLLGSRLEETLYSDQELAY
LQQGEEAMQKALGILSNQEGWKKESQQDNGDKVMSKVVPDVGKVFRLEVVVDQPMERLYEELVERMEAMGEWNPN
VKEIKVLQKIGKDTFITHELAAEAAGNLVGPRDFVSVRCAKRRGSTCVLAGMATDFGNMPEQKGVIRAEHGPTCM
VLHPLAGSPSKTKLTWLLSIDLKGWLPKSIINQVLSQTQVDFANHLRKRLESHPASEARC
Structural information
Protein Domains
 START. (67-280)
Interpro:  IPR029866 IPR000799 IPR023393 IPR002913
Prosite:   PS50848

Pfam:  		 PF01852
CDD:   cd08905

PDB:  		 1IMG 2I93 3P0L
PDBsum:   1IMG 2I93 3P0L
MINT:   1403878
STRING:   ENSP00000276449;
Other Databases GeneCards:  STAR;  Malacards:  STAR

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005515 protein binding
 IPI molecular_function
GO:0005758 mitochondrial intermembra
ne space
 TAS cellular_component
GO:0005758 mitochondrial intermembra
ne space
 TAS cellular_component
GO:0005829 cytosol
 IEA cellular_component
GO:0006694 steroid biosynthetic proc
ess
 TAS biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 IEA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 TAS biological_process
GO:0006701 progesterone biosynthetic
process
 IEA biological_process
GO:0006703 estrogen biosynthetic pro
cess
 IEA biological_process
GO:0007420 brain development
 IEA biological_process
GO:0007584 response to nutrient
 IEA biological_process
GO:0008203 cholesterol metabolic pro
cess
 IEA biological_process
GO:0008211 glucocorticoid metabolic
process
 IEA biological_process
GO:0008584 male gonad development
 IEA biological_process
GO:0009635 response to herbicide
 IEA biological_process
GO:0010212 response to ionizing radi
ation
 IEA biological_process
GO:0010288 response to lead ion
 IEA biological_process
GO:0010628 positive regulation of ge
ne expression
 IEA biological_process
GO:0014823 response to activity
 IEA biological_process
GO:0015485 cholesterol binding
 IEA molecular_function
GO:0016101 diterpenoid metabolic pro
cess
 IEA biological_process
GO:0017127 cholesterol transporter a
ctivity
 IEA molecular_function
GO:0017143 insecticide metabolic pro
cess
 IEA biological_process
GO:0018879 biphenyl metabolic proces
s
 IEA biological_process
GO:0018894 dibenzo-p-dioxin metaboli
c process
 IEA biological_process
GO:0018958 phenol-containing compoun
d metabolic process
 IEA biological_process
GO:0018963 phthalate metabolic proce
ss
 IEA biological_process
GO:0030061 mitochondrial crista
 IEA cellular_component
GO:0032367 intracellular cholesterol
transport
 IEA biological_process
GO:0032869 cellular response to insu
lin stimulus
 IEA biological_process
GO:0035094 response to nicotine
 IEA biological_process
GO:0035457 cellular response to inte
rferon-alpha
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0042542 response to hydrogen pero
xide
 IEA biological_process
GO:0042747 circadian sleep/wake cycl
e, REM sleep
 IEA biological_process
GO:0043005 neuron projection
 IEA cellular_component
GO:0043025 neuronal cell body
 IEA cellular_component
GO:0043524 negative regulation of ne
uron apoptotic process
 IEA biological_process
GO:0043627 response to estrogen
 IEA biological_process
GO:0044321 response to leptin
 IEA biological_process
GO:0044344 cellular response to fibr
oblast growth factor stim
ulus
 IEA biological_process
GO:0045471 response to ethanol
 IEA biological_process
GO:0048168 regulation of neuronal sy
naptic plasticity
 IEA biological_process
GO:0050769 positive regulation of ne
urogenesis
 IEA biological_process
GO:0050810 regulation of steroid bio
synthetic process
 IEA biological_process
GO:0051412 response to corticosteron
e
 IEA biological_process
GO:0060992 response to fungicide
 IEA biological_process
GO:0061370 testosterone biosynthetic
process
 IEA biological_process
GO:0071222 cellular response to lipo
polysaccharide
 IEA biological_process
GO:0071236 cellular response to anti
biotic
 IEA biological_process
GO:0071276 cellular response to cadm
ium ion
 IEA biological_process
GO:0071312 cellular response to alka
loid
 IEA biological_process
GO:0071320 cellular response to cAMP
 IEA biological_process
GO:0071333 cellular response to gluc
ose stimulus
 IEA biological_process
GO:0071346 cellular response to inte
rferon-gamma
 IEA biological_process
GO:0071372 cellular response to foll
icle-stimulating hormone
stimulus
 IEA biological_process
GO:0071373 cellular response to lute
inizing hormone stimulus
 IEA biological_process
GO:0071378 cellular response to grow
th hormone stimulus
 IEA biological_process
GO:0071549 cellular response to dexa
methasone stimulus
 IEA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
 IEA biological_process
GO:0071872 cellular response to epin
ephrine stimulus
 IEA biological_process
GO:0005515 protein binding
 IPI molecular_function
GO:0005739 mitochondrion
 IEA cellular_component
GO:0005739 mitochondrion
 IEA cellular_component
GO:0005739 mitochondrion
 IEA cellular_component
GO:0005739 mitochondrion
 IEA cellular_component
GO:0005758 mitochondrial intermembra
ne space
 IEA cellular_component
GO:0005758 mitochondrial intermembra
ne space
 TAS cellular_component
GO:0005758 mitochondrial intermembra
ne space
 TAS cellular_component
GO:0005829 cytosol
 IEA cellular_component
GO:0006082 organic acid metabolic pr
ocess
 IEA biological_process
GO:0006694 steroid biosynthetic proc
ess
 IEA biological_process
GO:0006694 steroid biosynthetic proc
ess
 IEA biological_process
GO:0006694 steroid biosynthetic proc
ess
 TAS biological_process
GO:0006699 bile acid biosynthetic pr
ocess
 IEA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 TAS biological_process
GO:0006701 progesterone biosynthetic
process
 IEA biological_process
GO:0006703 estrogen biosynthetic pro
cess
 IEA biological_process
GO:0006810 transport
 IEA biological_process
GO:0006869 lipid transport
 IEA biological_process
GO:0007420 brain development
 IEA biological_process
GO:0007584 response to nutrient
 IEA biological_process
GO:0007623 circadian rhythm
 IEA biological_process
GO:0008203 cholesterol metabolic pro
cess
 IEA biological_process
GO:0008211 glucocorticoid metabolic
process
 IEA biological_process
GO:0008289 lipid binding
 IEA molecular_function
GO:0008289 lipid binding
 IEA molecular_function
GO:0008584 male gonad development
 IEA biological_process
GO:0009635 response to herbicide
 IEA biological_process
GO:0009636 response to toxic substan
ce
 IEA biological_process
GO:0010033 response to organic subst
ance
 IEA biological_process
GO:0010212 response to ionizing radi
ation
 IEA biological_process
GO:0010288 response to lead ion
 IEA biological_process
GO:0010628 positive regulation of ge
ne expression
 IEA biological_process
GO:0014070 response to organic cycli
c compound
 IEA biological_process
GO:0014823 response to activity
 IEA biological_process
GO:0015485 cholesterol binding
 IEA molecular_function
GO:0015485 cholesterol binding
 IEA molecular_function
GO:0016101 diterpenoid metabolic pro
cess
 IEA biological_process
GO:0017085 response to insecticide
 IEA biological_process
GO:0017127 cholesterol transporter a
ctivity
 IEA molecular_function
GO:0017143 insecticide metabolic pro
cess
 IEA biological_process
GO:0018879 biphenyl metabolic proces
s
 IEA biological_process
GO:0018894 dibenzo-p-dioxin metaboli
c process
 IEA biological_process
GO:0018958 phenol-containing compoun
d metabolic process
 IEA biological_process
GO:0018963 phthalate metabolic proce
ss
 IEA biological_process
GO:0030061 mitochondrial crista
 IEA cellular_component
GO:0031667 response to nutrient leve
ls
 IEA biological_process
GO:0032367 intracellular cholesterol
transport
 IEA biological_process
GO:0032869 cellular response to insu
lin stimulus
 IEA biological_process
GO:0034698 response to gonadotropin
 IEA biological_process
GO:0035094 response to nicotine
 IEA biological_process
GO:0035457 cellular response to inte
rferon-alpha
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0042542 response to hydrogen pero
xide
 IEA biological_process
GO:0042747 circadian sleep/wake cycl
e, REM sleep
 IEA biological_process
GO:0043005 neuron projection
 IEA cellular_component
GO:0043025 neuronal cell body
 IEA cellular_component
GO:0043434 response to peptide hormo
ne
 IEA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
 IEA biological_process
GO:0043627 response to estrogen
 IEA biological_process
GO:0044255 cellular lipid metabolic
process
 IEA biological_process
GO:0044321 response to leptin
 IEA biological_process
GO:0044344 cellular response to fibr
oblast growth factor stim
ulus
 IEA biological_process
GO:0045471 response to ethanol
 IEA biological_process
GO:0046677 response to antibiotic
 IEA biological_process
GO:0048168 regulation of neuronal sy
naptic plasticity
 IEA biological_process
GO:0048545 response to steroid hormo
ne
 IEA biological_process
GO:0050769 positive regulation of ne
urogenesis
 IEA biological_process
GO:0050810 regulation of steroid bio
synthetic process
 IEA biological_process
GO:0051412 response to corticosteron
e
 IEA biological_process
GO:0060992 response to fungicide
 IEA biological_process
GO:0061370 testosterone biosynthetic
process
 IEA biological_process
GO:0071222 cellular response to lipo
polysaccharide
 IEA biological_process
GO:0071236 cellular response to anti
biotic
 IEA biological_process
GO:0071248 cellular response to meta
l ion
 IEA biological_process
GO:0071276 cellular response to cadm
ium ion
 IEA biological_process
GO:0071312 cellular response to alka
loid
 IEA biological_process
GO:0071320 cellular response to cAMP
 IEA biological_process
GO:0071333 cellular response to gluc
ose stimulus
 IEA biological_process
GO:0071346 cellular response to inte
rferon-gamma
 IEA biological_process
GO:0071371 cellular response to gona
dotropin stimulus
 IEA biological_process
GO:0071372 cellular response to foll
icle-stimulating hormone
stimulus
 IEA biological_process
GO:0071373 cellular response to lute
inizing hormone stimulus
 IEA biological_process
GO:0071378 cellular response to grow
th hormone stimulus
 IEA biological_process
GO:0071407 cellular response to orga
nic cyclic compound
 IEA biological_process
GO:0071549 cellular response to dexa
methasone stimulus
 IEA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
 IEA biological_process
GO:0071872 cellular response to epin
ephrine stimulus
 IEA biological_process
GO:0005515 protein binding
 IPI molecular_function
GO:0005758 mitochondrial intermembra
ne space
 TAS cellular_component
GO:0005758 mitochondrial intermembra
ne space
 TAS cellular_component
GO:0006694 steroid biosynthetic proc
ess
 TAS biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 TAS biological_process

KEGG pathways

hsa04913  Ovarian steroidogenesis
hsa04925  Aldosterone synthesis and secretion

Diseases

Associated diseases References
Congenital adrenal hyperplasia KEGG: H00216
Diminished ovarian reserve (DOR) PMID: 22355044
Endometriosis PMID: 19930843
Hyperandrogenism PMID: 27511375
Klinefelter syndrome PMID: 26405262
Endometriosis INFBASE18165439
Polycystic ovary syndrome (PCOS) PMID: 11238527
Testicular anomalies PMID: 26405262

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19001523 Endometrio
sis

StAR
side chain cleavage P450
3beta-hydroxysteroid-dehydrogenase-2
17-hydroxylase/17-20-lyase
aromatase
SF1
COUP-TFII
WT1
 Show abstract
18165439 Endometrio
sis

USF2
SF-1
StAR
aromatase
 Show abstract
19930843 Endometrio
sis
63 (38 cases of
endometriosis
with ectopic en
dometria, 25 no
rmal endometria
(controls))
 SF-1
StAR
 Show abstract