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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
  • START Domain-Containing Protein 1 3 4
  • Steroidogenic Acute Regulator 2 3
  • STARD1 3 4
  • Steroidogenic Acute Regulatory Protein, Mitochondrial 3
  • 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
  • STAR 4

External Ids for STAR Gene

Previous GeneCards Identifiers for STAR Gene

  • GC08P037424
  • GC08M038129
  • GC08M037742
  • GC08M038018
  • 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 Adrenal Hyperplasia and Star Syndrome. Among its related pathways are Ovarian steroidogenesis and Metabolism. GO annotations related to this gene include lipid 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.

Additional gene information for STAR Gene

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

Genomics for STAR Gene

Regulatory Elements for STAR Gene

Enhancers for STAR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H038012 0.8 ENCODE 10.5 +138.2 138168 1 HDAC1 LEF1 PKNOX1 TAL1 ZSCAN4 TCF12 ZFHX2 NCOR1 ADNP TCF7L2 GOT1L1 STAR RNU6-323P EIF4EBP1 GC08P037988
GH08H038118 0.5 dbSUPER 12.3 +32.4 32407 1 NFIC POLR2A NR2C1 ZIC2 STAR RNU6-323P LETM2 GC08P038125 ASH2L
GH08H037502 0.5 ENCODE 5 +647.1 647128 2 GLIS1 SCRT2 ZNF580 ZIC2 ZBTB20 ENSG00000253388 LINC01605 ENSG00000254290 STAR ENSG00000253414
GH08H038147 1.6 Ensembl ENCODE dbSUPER 0.7 -0.2 -200 7 HDGF PKNOX1 FOXA2 ARID4B DMAP1 YY1 ZNF766 CBX5 ZNF592 MEF2D STAR GC08P038163
GH08H038155 0.9 ENCODE dbSUPER 0.4 -5.4 -5350 1 SCRT1 RFX1 ZNF362 MTA2 HLF ZNF384 ZNF366 NFYB ZNF512 SCRT2 DDHD2 GC08P038163 STAR
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STAR on UCSC Golden Path with GeneCards custom track

Genomic Location for STAR Gene

Chromosome:
8
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

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for STAR (STAR)
  • Santa Cruz Biotechnology (SCBT) Antibodies for STAR

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

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for STAR Gene

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.

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: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

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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for STAR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
extracellular 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for STAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005758 mitochondrial intermembrane space IEA,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

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

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 IEA --
GO:0006694 steroid biosynthetic process IEA,TAS 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

No data available for SIGNOR curated interactions for STAR Gene

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, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2823
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors, Topoisomerase II inhibitor 1287
Antineoplastic Agents, Phytogenic Pharma 5720
Etoposide phosphate Pharma 1287
Topoisomerase Inhibitors Pharma 5159

(35) 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

Unigene Clusters for STAR Gene

Steroidogenic acute regulatory protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for STAR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for STAR Gene



Protein tissue co-expression partners for STAR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STAR Gene:

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
Organs:
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

Primer Products

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 33 34
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia STAR 33 34
  • 88.89 (n)
cow
(Bos Taurus)
Mammalia STAR 33 34
  • 87.37 (n)
rat
(Rattus norvegicus)
Mammalia Star 33
  • 84.74 (n)
mouse
(Mus musculus)
Mammalia Star 33 16 34
  • 83.57 (n)
oppossum
(Monodelphis domestica)
Mammalia STAR 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
chicken
(Gallus gallus)
Aves STAR 33 34
  • 74.79 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 83 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492318 33
  • 67.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia star-A 33
zebrafish
(Danio rerio)
Actinopterygii star 33 34
  • 66.91 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.86 33
fruit fly
(Drosophila melanogaster)
Insecta Start1 34
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-340 34
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for STAR Gene

Paralogs for STAR Gene

(1) 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
rs104894086 Pathogenic, Adrenal hyperplasia 1 (AH1) [MIM:201710] 38,146,068(-) GCCCC(A/G/T)TGACT reference, missense
rs137852689 Pathogenic, Adrenal hyperplasia 1 (AH1) [MIM:201710] 38,145,963(-) CATCA(C/G)GTAAT reference, missense
rs137852690 Pathogenic, Adrenal hyperplasia 1 (AH1) [MIM:201710] 38,145,313(-) CAGGG(C/T)GGAGC intron-variant, reference, missense
rs747169620 Adrenal hyperplasia 1 (AH1) [MIM:201710] 38,146,108(+) CAGCT(C/T)GTGAG reference, missense
rs762245736 Adrenal hyperplasia 1 (AH1) [MIM:201710] 38,144,307(+) ACTCC(A/G)GGCGC reference, missense

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)

Relevant External Links for STAR Gene

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

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

Disorders for STAR Gene

MalaCards: The human disease database

(22) MalaCards diseases for STAR Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search STAR in MalaCards View complete list of genes associated with diseases

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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 … Clark BJ (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 22 60
  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 22 60
  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 22 60
  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 45 60
  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 45 60

Products for STAR Gene

Sources for STAR Gene

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