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Aliases for STAR Gene

Aliases for STAR Gene

  • Steroidogenic Acute Regulatory Protein 2 3
  • StAR-Related Lipid Transfer (START) Domain Containing 1 2 3
  • START Domain-Containing Protein 1 3 4
  • Steroidogenic Acute Regulator 2 3
  • STARD1 3 4
  • Steroidogenic Acute Regulatory Protein, Mitochondrial 3
  • Mitochondrial Steroid Acute Regulatory Protein 3
  • Steroid Acute Regulatory Protein 3
  • START Domain Containing 1 3
  • Cholesterol Trafficker 3
  • StAR 4

External Ids for STAR Gene

Summaries for STAR Gene

Entrez Gene Summary for STAR Gene

  • 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]

GeneCards Summary for STAR Gene

STAR (Steroidogenic Acute Regulatory Protein) is a Protein Coding gene. Diseases associated with STAR include lipoid adrenal hyperplasia and classic congenital lipoid adrenal hyperplasia due to star deficency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include cholesterol binding and cholesterol transporter activity. An important paralog of this gene is STARD3.

UniProtKB/Swiss-Prot for STAR Gene

  • 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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STAR Gene

Genomics for STAR Gene

Genomic Location for STAR Gene

Start:
38,142,700 bp from pter
End:
38,151,265 bp from pter
Size:
8,566 bases
Orientation:
Minus strand

Genomic View for STAR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for STAR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAR Gene

Regulatory Elements for STAR Gene

Proteins for STAR Gene

  • Protein details for STAR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49675-STAR_HUMAN
    Recommended name:
    Steroidogenic acute regulatory protein, mitochondrial
    Protein Accession:
    P49675
    Secondary Accessions:
    • Q16396

    Protein attributes for STAR Gene

    Size:
    285 amino acids
    Molecular mass:
    31914 Da
    Quaternary structure:
    • May interact with TSPO.

    Three dimensional structures from OCA and Proteopedia for STAR Gene

neXtProt entry for STAR Gene

Proteomics data for STAR Gene at MOPED

Post-translational modifications for STAR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STAR Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for STAR Gene

Domains for STAR Gene

Gene Families for STAR Gene

HGNC:
  • StARD :StAR-related lipid transfer (START) domain containing

UniProtKB/Swiss-Prot:

STAR_HUMAN
Domain:
  • Contains 1 START domain.:
    • P49675
genes like me logo Genes that share domains with STAR: view

Function for STAR Gene

Molecular function for STAR Gene

GENATLAS Biochemistry: steroidogenic acute regulatory protein,mediating rapid increase in pregnenolone synthesis by tropic hormones,also involved in the activity of the mitochondrial cholesterol metabolizing enzymes,acting on the outside of mitochondria to stimulate the steroidogenesis regulated by CEBPB and repressed by DAX1
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for STAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008289 lipid binding --
GO:0015485 cholesterol binding IEA --
GO:0017127 cholesterol transporter activity IEA --
genes like me logo Genes that share ontologies with STAR: view
genes like me logo Genes that share phenotypes with STAR: view

Animal Models for STAR Gene

MGI Knock Outs for STAR:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for STAR Gene

Localization for STAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAR Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STAR Gene COMPARTMENTS Subcellular localization image for STAR gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2
endoplasmic reticulum 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for STAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005758 mitochondrial intermembrane space TAS --
GO:0005829 cytosol IEA --
GO:0030061 mitochondrial crista IEA --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with STAR: view

Pathways for STAR Gene

genes like me logo Genes that share pathways with STAR: view

Pathways by source for STAR Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for STAR Gene
1 Cell Signaling Technology pathway for STAR Gene
1 BioSystems pathway for STAR Gene

UniProtKB/Swiss-Prot P49675-STAR_HUMAN

  • Pathway: Steroid metabolism; cholesterol metabolism

Gene Ontology (GO) - Biological Process for STAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006082 organic acid metabolic process --
GO:0006694 steroid biosynthetic process TAS 7761400
GO:0006699 bile acid biosynthetic process IEA --
GO:0006700 C21-steroid hormone biosynthetic process TAS --
GO:0006701 progesterone biosynthetic process IEA --
genes like me logo Genes that share ontologies with STAR: view

Compounds for STAR Gene

(71) Novoseek inferred chemical compound relationships for STAR Gene

Compound -log(P) Hits PubMed IDs
3beta-hydroxysteroid 88.5 31
22r-hydroxycholesterol 83.7 4
steroid 82.1 125
cholesterol 79.9 208
progesterone 78.4 121
genes like me logo Genes that share compounds with STAR: view

Transcripts for STAR Gene

Unigene Clusters for STAR Gene

Steroidogenic acute regulatory protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for STAR Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b
SP1: - - -
SP2: - - -
SP3: - -
SP4: - - - -
SP5: -
SP6:
SP7: - -

Relevant External Links for STAR Gene

GeneLoc Exon Structure for
STAR
ECgene alternative splicing isoforms for
STAR

Expression for STAR Gene

mRNA expression in normal human tissues for STAR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STAR Gene

This gene is overexpressed in Adrenal Gland (47.5) and Ovary (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for STAR Gene

SOURCE GeneReport for Unigene cluster for STAR Gene Hs.521535

mRNA Expression by UniProt/SwissProt for STAR Gene

P49675-STAR_HUMAN
Tissue specificity: Expressed in gonads, adrenal cortex and kidney
genes like me logo Genes that share expressions with STAR: view

Orthologs for STAR Gene

This gene was present in the common ancestor of animals.

Orthologs for STAR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STAR 36
  • 99.3 (n)
  • 99.65 (a)
STAR 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia STAR 36
  • 87.37 (n)
  • 87.72 (a)
STAR 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STAR 36
  • 88.89 (n)
  • 91.58 (a)
STAR 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Star 36
  • 83.57 (n)
  • 87.32 (a)
Star 16
Star 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STAR 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 82 (a)
OneToMany
-- 37
  • 79 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Star 36
  • 84.74 (n)
  • 88.03 (a)
chicken
(Gallus gallus)
Aves STAR 36
  • 74.79 (n)
  • 72.36 (a)
STAR 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 83 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia star-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492318 36
  • 67.84 (n)
  • 69.12 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.86 36
zebrafish
(Danio rerio)
Actinopterygii star 36
  • 66.91 (n)
  • 65.09 (a)
star 37
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Start1 37
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-340 37
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 37 (a)
OneToMany
Species with no ortholog for STAR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STAR Gene

ENSEMBL:
Gene Tree for STAR (if available)
TreeFam:
Gene Tree for STAR (if available)

Paralogs for STAR Gene

Paralogs for STAR Gene

Selected SIMAP similar genes for STAR Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for STAR Gene

genes like me logo Genes that share paralogs with STAR: view

Variants for STAR Gene

Sequence variations from dbSNP and Humsavar for STAR Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs1042854 - 38,146,005(-) CATGG(A/C)CACAG missense, reference, intron-variant
rs2070347 -- 38,148,818(-) GAGGG(C/G)GTGGG intron-variant
rs2070348 -- 38,148,460(-) AACTC(C/G)ACCAG intron-variant
rs2229620 -- 38,148,317(-) CGGCT(A/G)GAAGA synonymous-codon, reference
rs2466146 -- 38,151,661(-) TATGA(C/T)GGAGT upstream-variant-2KB

Relevant External Links for STAR Gene

HapMap Linkage Disequilibrium report
STAR
Human Gene Mutation Database (HGMD)
STAR

No data available for Structural Variations from Database of Genomic Variants (DGV) for STAR Gene

Disorders for STAR Gene

(1) OMIM Diseases for STAR Gene (600617)

UniProtKB/Swiss-Prot

STAR_HUMAN
  • Adrenal hyperplasia 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. {ECO:0000269 PubMed:10566637, ECO:0000269 PubMed:8948562, ECO:0000269 PubMed:9097960}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(32) Novoseek inferred disease relationships for STAR Gene

Disease -log(P) Hits PubMed IDs
lipoid congenital adrenal hyperplasia 98.1 48
leydig cell tumor 86.7 20
carcinoma adrenocortical 68.2 4
addisons disease 63.9 4
adrenal hypoplasia, congenital 54.8 1

Genatlas disease for STAR Gene

congenital lipoid adrenal hyperplasia,with neonatal onset of severe adrenal insufficiency and male pseudohermaphroditism

Relevant External Links for STAR

Genetic Association Database (GAD)
STAR
Human Genome Epidemiology (HuGE) Navigator
STAR
genes like me logo Genes that share disorders with STAR: view

Publications for STAR Gene

  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. (PMID: 7761400) Sugawara T. … Stocco D.M. (Proc. Natl. Acad. Sci. U.S.A. 1995) 2 3 4 23
  2. Structure of the human steroidogenic acute regulatory protein (StAR) gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity. (PMID: 7547998) Sugawara T. … Strauss J.F. III (Biochemistry 1995) 3 4 23
  3. Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. (PMID: 9097960) Nakae J. … Fujieda K. (Hum. Mol. Genet. 1997) 3 4 23
  4. The steroidogenic acute regulatory protein (StAR): a window into the complexities of intracellular cholesterol trafficking. (PMID: 10548884) Strauss J.F. III … Sugawara T. (Recent Prog. Horm. Res. 1999) 3 4 23
  5. Multiple steroidogenic factor 1 binding elements in the human steroidogenic acute regulatory protein gene 5'-flanking region are required for maximal promoter activity and cyclic AMP responsiveness. (PMID: 9188726) Sugawara T. … Strauss J.F. (Biochemistry 1997) 3 23

Products for STAR Gene

Sources for STAR Gene

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