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 ca... See more...

Aliases for STAR Gene

Aliases for STAR Gene

  • Steroidogenic Acute Regulatory Protein 2 3 5
  • StAR Related Lipid Transfer (START) Domain Containing 1 2 3
  • Steroidogenic Acute Regulatory Protein, Mitochondrial 3 4
  • START Domain-Containing Protein 1 3 4
  • Steroidogenic Acute Regulator 2 3
  • STARD1 3 4
  • Testis Secretory Sperm-Binding Protein Li 241mP 3
  • Mitochondrial Steroid Acute Regulatory Protein 3
  • Steroid Acute Regulatory Protein 3
  • START Domain Containing 1 3
  • Cholesterol Trafficker 3
  • StARD1 4
  • StAR 4

External Ids for STAR Gene

Previous GeneCards Identifiers for STAR Gene

  • GC08P037424
  • GC08M038129
  • GC08M037742
  • GC08M038018
  • GC08M038120
  • GC08M036535

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 Congenital Adrenal Hyperplasia and Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations. Among its related pathways are Aldosterone synthesis and secretion and Circadian rythm related genes. Gene Ontology (GO) annotations related to this gene include lipid binding and cholesterol transporter activity. An important paralog of this gene is STARD3.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for STAR Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STAR Gene

Genomics for STAR Gene

GeneHancer (GH) Regulatory Elements for STAR Gene

Promoters and enhancers for STAR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STAR on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STAR

Top Transcription factor binding sites by QIAGEN in the STAR gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for STAR Gene

Genomic Locations for STAR Gene
chr8:38,142,700-38,151,265
(GRCh38/hg38)
Size:
8,566 bases
Orientation:
Minus strand
chr8:38,000,218-38,008,783
(GRCh37/hg19)
Size:
8,566 bases
Orientation:
Minus strand

Genomic View for STAR Gene

Genes around STAR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for STAR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STAR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for STAR Gene

Domains & Families for STAR Gene

Gene Families for STAR Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for STAR Gene

Blocks:
  • Lipid-binding START
  • Steroidogenic acute regulatory protein signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for STAR Gene

GenScript: Design optimal peptide antigens:
  • Steroidogenic acute regulatory protein (Q3LR71_HUMAN)
  • Truncated steroidogenic acute regulatory protein (Q3LR72_HUMAN)
  • cDNA, FLJ96085, highly similar to Homo sapiens steroidogenic acute regulator (STAR), mRNA (Q6IBK0_HUMAN)
  • Steroid acute regulatory protein (Q6QNJ9_HUMAN)
  • START domain-containing protein 1 (STAR_HUMAN)
genes like me logo Genes that share domains with STAR: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for STAR Gene

Function for STAR Gene

Molecular function for STAR Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesterol(in) = cholesterol(out); Xref=Rhea:RHEA:39747, ChEBI:CHEBI:16113; Evidence={ECO:0000269 PubMed:7761400, ECO:0000269 PubMed:7892608};.
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

Phenotypes From GWAS Catalog for STAR Gene

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 IEA --
GO:0015485 cholesterol binding IDA,IEA 18403318
GO:0120020 intermembrane cholesterol transfer activity IEA --
genes like me logo Genes that share ontologies with STAR: view
genes like me logo Genes that share phenotypes with STAR: view

Human Phenotype Ontology for STAR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STAR Gene

MGI Knock Outs for STAR:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for STAR

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

Localization for STAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAR Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STAR gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for STAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005739 mitochondrion IEA,IBA 21873635
GO:0005758 mitochondrial intermembrane space IEA,TAS --
GO:0005829 cytosol IEA --
GO:0030061 mitochondrial crista IEA --
genes like me logo Genes that share ontologies with STAR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STAR Gene

Pathways & Interactions for STAR Gene

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

Pathways by source for STAR Gene

1 GeneGo (Thomson Reuters) pathway for STAR Gene
  • Development Role of Activin A in cell differentiation and proliferation
1 Cell Signaling Technology pathway for STAR Gene

UniProtKB/Swiss-Prot P49675-STAR_HUMAN

  • Pathway: Steroid metabolism; cholesterol metabolism.

SIGNOR curated interactions for STAR Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for STAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006082 organic acid metabolic process IEA --
GO:0006694 steroid biosynthetic process TAS,IEA 7761400
GO:0006699 bile acid biosynthetic process IEA --
GO:0006700 C21-steroid hormone biosynthetic process TAS --
GO:0006703 estrogen biosynthetic process IEA --
genes like me logo Genes that share ontologies with STAR: view

Drugs & Compounds for STAR Gene

(41) Drugs for STAR Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3311
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors 1445
Etoposide phosphate Pharma 1445
Topoisomerase Inhibitors Pharma 5875

(34) Additional Compounds for STAR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with STAR: view

Transcripts for STAR Gene

mRNA/cDNA for STAR Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for STAR

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

Expression for STAR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x47.5) and Ovary (x4.3).

Protein differential expression in normal tissues from HIPED for STAR Gene

This gene is overexpressed in Adrenal (36.4) and Fetal testis (20.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STAR Gene



Protein tissue co-expression partners for STAR Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STAR

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.

Evidence on tissue expression from TISSUES for STAR Gene

  • Nervous system(4.9)
  • Adrenal gland(4.8)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STAR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
Pelvis:
  • pelvis
  • penis
  • urethra
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns 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 31 30
  • 99.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia STAR 31 30
  • 88.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia STAR 31 30
  • 87.37 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Star 30
  • 84.74 (n)
mouse
(Mus musculus)
Mammalia Star 17 31 30
  • 83.57 (n)
oppossum
(Monodelphis domestica)
Mammalia STAR 31
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 82 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
chicken
(Gallus gallus)
Aves STAR 31 30
  • 74.79 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 83 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492318 30
  • 67.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia star-A 30
zebrafish
(Danio rerio)
Actinopterygii star 31 30 30
  • 66.91 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.86 30
fruit fly
(Drosophila melanogaster)
Insecta Start1 31
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-340 31
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for STAR was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for STAR: view image

Paralogs for STAR Gene

Paralogs for STAR Gene

(1) SIMAP similar genes for STAR Gene using alignment to 8 proteins:

  • STAR_HUMAN
  • E5RH12_HUMAN
  • G8FGB3_HUMAN
  • H0YB94_HUMAN
  • Q3LR71_HUMAN
  • Q3LR72_HUMAN
  • Q6IBK0_HUMAN
  • Q6QNJ9_HUMAN

Pseudogenes.org Pseudogenes for STAR Gene

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

Variants for STAR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STAR Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
661662 Likely Pathogenic: not provided 38,145,305(-) C/T MISSENSE_VARIANT
rs104894085 Pathogenic: Cholesterol monooxygenase (side-chain cleaving) deficiency; not provided 38,144,359(-) G/A NONSENSE
rs104894086 Pathogenic: Cholesterol monooxygenase (side-chain cleaving) deficiency. Pathogenic/Likely Pathogenic: Cholesterol monooxygenase (side-chain cleaving) deficiency; not provided. Adrenal hyperplasia 1 (AH1) [MIM:201710] 38,146,068(-) C/AC/Tp.Arg182Leu MISSENSE_VARIANT
rs104894087 Pathogenic: Cholesterol monooxygenase (side-chain cleaving) deficiency 38,144,382(-) C/T NONSENSE
rs104894089 Pathogenic/Likely Pathogenic: Cholesterol monooxygenase (side-chain cleaving) deficiency; not provided 38,146,054(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for STAR Gene

Structural Variations from Database of Genomic Variants (DGV) for STAR Gene

Variant ID Type Subtype PubMed ID
esv3616917 CNV gain 21293372

Variation tolerance for STAR Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.58; 30.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STAR Gene

Human Gene Mutation Database (HGMD)
STAR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAR Gene

Disorders for STAR Gene

MalaCards: The human disease database

(24) MalaCards diseases for STAR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

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:7892608, ECO:0000269 PubMed:8948562, ECO:0000269 PubMed:9097960}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for STAR Gene

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

Additional Disease Information for STAR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … Clark BJ (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 23 54
  2. The steroidogenic acute regulatory protein (StAR): a window into the complexities of intracellular cholesterol trafficking. (PMID: 10548884) Strauss JF … Sugawara T (Recent progress in hormone research 1999) 3 4 23 54
  3. Structure of the human steroidogenic acute regulatory protein (StAR) gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity. (PMID: 7547998) Sugawara T … Strauss JF (Biochemistry 1995) 3 4 23 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54

Products for STAR Gene

Sources for STAR Gene