Human Gene STAR (uc003xkv.1)
  Description: Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_000349): 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].
Transcript (Including UTRs)
   Position: hg19 chr8:38,000,218-38,008,600 Size: 8,383 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr8:38,001,791-38,008,336 Size: 6,546 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:38,000,218-38,008,600)mRNA (may differ from genome)Protein (285 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: STAR_HUMAN
DESCRIPTION: RecName: Full=Steroidogenic acute regulatory protein, mitochondrial; Short=StAR; AltName: Full=START domain-containing protein 1; Short=StARD1; Flags: Precursor;
FUNCTION: 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: Steroid metabolism; cholesterol metabolism.
SUBUNIT: May interact with TSPO (By similarity).
SUBCELLULAR LOCATION: Mitochondrion.
TISSUE SPECIFICITY: Expressed in gonads, adrenal cortex and kidney.
DISEASE: Defects in STAR are the cause of adrenal hyperplasia type 1 (AH1) [MIM:201710]. The 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.
SIMILARITY: Contains 1 START domain.
WEB RESOURCE: Name=Wikipedia; Note=Steroidogenic acute regulatory protein entry; URL="http://en.wikipedia.org/wiki/Steroidogenic_acute_regulatory_protein";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/STAR";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): STAR
CDC HuGE Published Literature: STAR

-  MalaCards Disease Associations
  MalaCards Gene Search: STAR
Diseases sorted by gene-association score: lipoid adrenal hyperplasia* (1253), star syndrome* (354), classic congenital lipoid adrenal hyperplasia due to star deficency* (350), non-classic congenital lipoid adrenal hyperplasia due to star deficency* (350), cholesterol desmolase-deficient congenital adrenal hyperplasia* (100), familial glucocorticoid deficiency* (19), adrenal hypoplasia, congenital (11), congenital adrenal hyperplasia (11), adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete (10), leydig cell tumor (10), steroid inherited metabolic disorder (9), addison's disease (8), testicular leydig cell tumor (8), adrenal cortical carcinoma (8), cholesterol ester storage disease (7), wolman disease (7), luteoma (6), adrenal carcinoma (6), polycystic ovary syndrome (5), premature ovarian failure 1 (5), 46 xy gonadal dysgenesis (4), image syndrome (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2779.06 RPKM in Adrenal Gland
Total median expression: 3167.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -89.80264-0.340 Picture PostScript Text
3' UTR -494.761573-0.315 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000799 - StAR
IPR023393 - START-like_dom
IPR002913 - START_lipid-bd

Pfam Domains:
PF01852 - START domain

SCOP Domains:
55961 - Bet v1-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1IMG - Model 2I93 - Model 3P0L - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P49675
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0015485 cholesterol binding
GO:0017127 cholesterol transporter activity

Biological Process:
GO:0006082 organic acid metabolic process
GO:0006694 steroid biosynthetic process
GO:0006699 bile acid biosynthetic process
GO:0006700 C21-steroid hormone biosynthetic process
GO:0006703 estrogen biosynthetic process
GO:0006869 lipid transport
GO:0007420 brain development
GO:0007584 response to nutrient
GO:0007623 circadian rhythm
GO:0008203 cholesterol metabolic process
GO:0008211 glucocorticoid metabolic process
GO:0008584 male gonad development
GO:0009635 response to herbicide
GO:0009636 response to toxic substance
GO:0010033 response to organic substance
GO:0010212 response to ionizing radiation
GO:0010288 response to lead ion
GO:0010628 positive regulation of gene expression
GO:0014070 response to organic cyclic compound
GO:0014823 response to activity
GO:0016101 diterpenoid metabolic process
GO:0017085 response to insecticide
GO:0017143 insecticide metabolic process
GO:0018879 biphenyl metabolic process
GO:0018894 dibenzo-p-dioxin metabolic process
GO:0018958 phenol-containing compound metabolic process
GO:0018963 phthalate metabolic process
GO:0031667 response to nutrient levels
GO:0032367 intracellular cholesterol transport
GO:0032869 cellular response to insulin stimulus
GO:0034698 response to gonadotropin
GO:0035094 response to nicotine
GO:0035457 cellular response to interferon-alpha
GO:0042493 response to drug
GO:0042542 response to hydrogen peroxide
GO:0042747 circadian sleep/wake cycle, REM sleep
GO:0043434 response to peptide hormone
GO:0043524 negative regulation of neuron apoptotic process
GO:0043627 response to estrogen
GO:0044255 cellular lipid metabolic process
GO:0044321 response to leptin
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0045471 response to ethanol
GO:0046677 response to antibiotic
GO:0048168 regulation of neuronal synaptic plasticity
GO:0048545 response to steroid hormone
GO:0050769 positive regulation of neurogenesis
GO:0050810 regulation of steroid biosynthetic process
GO:0051412 response to corticosterone
GO:0060992 response to fungicide
GO:0061370 testosterone biosynthetic process
GO:0070859 positive regulation of bile acid biosynthetic process
GO:0071222 cellular response to lipopolysaccharide
GO:0071236 cellular response to antibiotic
GO:0071248 cellular response to metal ion
GO:0071276 cellular response to cadmium ion
GO:0071312 cellular response to alkaloid
GO:0071320 cellular response to cAMP
GO:0071333 cellular response to glucose stimulus
GO:0071346 cellular response to interferon-gamma
GO:0071371 cellular response to gonadotropin stimulus
GO:0071372 cellular response to follicle-stimulating hormone stimulus
GO:0071373 cellular response to luteinizing hormone stimulus
GO:0071378 cellular response to growth hormone stimulus
GO:0071407 cellular response to organic cyclic compound
GO:0071549 cellular response to dexamethasone stimulus
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0071872 cellular response to epinephrine stimulus

Cellular Component:
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0005829 cytosol
GO:0030061 mitochondrial crista
GO:0043005 neuron projection
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  LF208060 - JP 2014500723-A/15563: Polycomb-Associated Non-Coding RNAs.
MA443637 - JP 2018138019-A/15563: Polycomb-Associated Non-Coding RNAs.
HM005654 - Homo sapiens clone HTL-S-241mP testis secretory sperm-binding protein Li 241mP mRNA, complete cds.
JD286625 - Sequence 267649 from Patent EP1572962.
JD089541 - Sequence 70565 from Patent EP1572962.
BC010550 - Homo sapiens steroidogenic acute regulatory protein, mRNA (cDNA clone MGC:17170 IMAGE:4153601), complete cds.
AF035277 - Homo sapiens clone 23875 steroidogenic acute regulatory protein mRNA, complete cds.
BX647744 - Homo sapiens mRNA; cDNA DKFZp686J09286 (from clone DKFZp686J09286).
S79669 - steroidogenic acute regulatoy protein [human, follicle cells, mRNA, 1641 nt].
U17280 - Human steroidogenic acute regulatory protein (StAR) mRNA, complete cds.
AK090513 - Homo sapiens cDNA FLJ33194 fis, clone ADRGL2005926, highly similar to STEROIDOGENIC ACUTE REGULATORY PROTEIN PRECURSOR.
JD365555 - Sequence 346579 from Patent EP1572962.
JD134720 - Sequence 115744 from Patent EP1572962.
JD488139 - Sequence 469163 from Patent EP1572962.
JD104725 - Sequence 85749 from Patent EP1572962.
JD296469 - Sequence 277493 from Patent EP1572962.
JD053891 - Sequence 34915 from Patent EP1572962.
JD498775 - Sequence 479799 from Patent EP1572962.
JD354540 - Sequence 335564 from Patent EP1572962.
AY532319 - Homo sapiens steroid acute regulatory protein (STAR) mRNA, partial cds.
JD040216 - Sequence 21240 from Patent EP1572962.
JD063118 - Sequence 44142 from Patent EP1572962.
JD194075 - Sequence 175099 from Patent EP1572962.
JD260084 - Sequence 241108 from Patent EP1572962.
JD055752 - Sequence 36776 from Patent EP1572962.
AK315122 - Homo sapiens cDNA, FLJ96085, highly similar to Homo sapiens steroidogenic acute regulator (STAR), mRNA.
CU679741 - Synthetic construct Homo sapiens gateway clone IMAGE:100018729 5' read STAR mRNA.
KJ892212 - Synthetic construct Homo sapiens clone ccsbBroadEn_01606 STAR gene, encodes complete protein.
KR709369 - Synthetic construct Homo sapiens clone CCSBHm_00001248 STAR (STAR) mRNA, encodes complete protein.
KR709370 - Synthetic construct Homo sapiens clone CCSBHm_00001250 STAR (STAR) mRNA, encodes complete protein.
KR709371 - Synthetic construct Homo sapiens clone CCSBHm_00001260 STAR (STAR) mRNA, encodes complete protein.
KR709372 - Synthetic construct Homo sapiens clone CCSBHm_00001261 STAR (STAR) mRNA, encodes complete protein.
CR456803 - Homo sapiens full open reading frame cDNA clone RZPDo834B0219D for gene STAR, steroidogenic acute regulatory protein; complete cds, incl. stopcodon.
DQ891806 - Synthetic construct clone IMAGE:100004436; FLH180122.01X; RZPDo839G02132D steroidogenic acute regulator (STAR) gene, encodes complete protein.
DQ894990 - Synthetic construct Homo sapiens clone IMAGE:100009450; FLH180118.01L; RZPDo839G02131D steroidogenic acute regulator (STAR) gene, encodes complete protein.
CR541850 - Homo sapiens full open reading frame cDNA clone RZPDo834F0332D for gene STAR, steroidogenic acute regulatory protein; complete cds, without stopcodon.
KU178337 - Homo sapiens steroidogenic acute regulatory protein isoform 1 (STAR) mRNA, partial cds.
KU178338 - Homo sapiens steroidogenic acute regulatory protein isoform 2 (STAR) mRNA, partial cds, alternatively spliced.
LF371818 - JP 2014500723-A/179321: Polycomb-Associated Non-Coding RNAs.
LF371817 - JP 2014500723-A/179320: Polycomb-Associated Non-Coding RNAs.
JD137705 - Sequence 118729 from Patent EP1572962.
JD106444 - Sequence 87468 from Patent EP1572962.
JD404617 - Sequence 385641 from Patent EP1572962.
JD370507 - Sequence 351531 from Patent EP1572962.
JD186824 - Sequence 167848 from Patent EP1572962.
JD394179 - Sequence 375203 from Patent EP1572962.
JD055996 - Sequence 37020 from Patent EP1572962.
JD054056 - Sequence 35080 from Patent EP1572962.
JD040796 - Sequence 21820 from Patent EP1572962.
JD168981 - Sequence 150005 from Patent EP1572962.
MA607395 - JP 2018138019-A/179321: Polycomb-Associated Non-Coding RNAs.
MA607394 - JP 2018138019-A/179320: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P49675 (Reactome details) participates in the following event(s):

R-HSA-196126 CHOL translocates from cytosol to mitochondrial intermembrane space
R-HSA-196086 Cholesterol translocates from mitochondrial intermembrane space to inner mitochondrial membrane
R-HSA-196108 Pregnenolone biosynthesis
R-HSA-196071 Metabolism of steroid hormones
R-HSA-209943 Steroid hormones
R-HSA-8957322 Metabolism of steroids
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: NM_000349, NP_000340, P49675, Q16396, STARD1, STAR_HUMAN
UCSC ID: uc003xkv.1
RefSeq Accession: NM_000349
Protein: P49675 (aka STAR_HUMAN)
CCDS: CCDS6102.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000349.2
exon count: 7CDS single in 3' UTR: no RNA size: 2695
ORF size: 858CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 1704.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.