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STAR Gene

protein-coding   GIFtS: 65
GCID: GC08M038018

Steroidogenic Acute Regulatory Protein

(Previous name: steroidogenic acute regulator)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Steroidogenic Acute Regulatory Protein1 2     Mitochondrial Steroid Acute Regulatory Protein2
Steroidogenic Acute Regulator1 2     START Domain Containing 12
StAR-Related Lipid Transfer (START) Domain Containing 11 2     Steroid Acute Regulatory Protein2
STARD12 3     Steroidogenic Acute Regulatory Protein, Mitochondrial2
START Domain-Containing Protein 12 3     StAR3
Cholesterol Trafficker2     StARD13

External Ids:    HGNC: 113591   Entrez Gene: 67702   Ensembl: ENSG000001474657   OMIM: 6006175   UniProtKB: P496753   

Export aliases for STAR gene to outside databases

Previous GC identifers: GC08P037424 GC08M038129 GC08M037742 GC08M038120 GC08M036535


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 non-classic congenital lipoid adrenal hyperplasia due to star deficency, and cholesterol desmolase-deficient congenital adrenal hyperplasia. GO annotations related to this gene include cholesterol binding and cholesterol transporter activity. An important paralog of this gene is STARD3NL.

UniProtKB/Swiss-Prot: STAR_HUMAN, P49675
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the STAR gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTAR promoter sequence
   Search Chromatin IP Primers for STAR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STAR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p11.2   Ensembl cytogenetic band:  8p11.23   HGNC cytogenetic band: 8p11.2

STAR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STAR gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M038018:  view genomic region     (about GC identifiers)

Start:
38,000,218 bp from pter      End:
38,008,783 bp from pter
Size:
8,566 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: STAR_HUMAN, P49675 (See protein sequence)
Recommended Name: Steroidogenic acute regulatory protein, mitochondrial precursor  
Size: 285 amino acids; 31914 Da
Subunit: May interact with TSPO (By similarity)
3 PDB 3D structures from and Proteopedia for STAR:
1IMG (3D)        2I93 (3D)        3P0L (3D)    
Secondary accessions: Q16396

Explore the universe of human proteins at neXtProt for STAR: NX_P49675

Explore proteomics data for STAR at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See STAR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000340.2  
    ENSEMBL proteins: 
     ENSP00000276449   ENSP00000429009   ENSP00000430030  
    Reactome Protein details: P49675

    STAR Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for STAR
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    GenScript Custom Purified and Recombinant Proteins Services for STAR
    Novus Biologicals STAR Proteins
    Novus Biologicals STAR Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for STAR
    Cloud-Clone Corp. Proteins for STAR

    STAR Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    Novus Biologicals STAR Antibodies
    Abcam antibodies for STAR (Q6IBK0, P49675)
    Cloud-Clone Corp. Antibodies for STAR
    ThermoFisher Antibodies for STAR
    LSBio Antibodies in human, mouse, rat for STAR

    STAR Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for STAR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for STAR
    Cloud-Clone Corp. CLIAs for STAR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    StARD: StAR-related lipid transfer (START) domain containing

    3 InterPro protein domains:
     IPR000799 StAR
     IPR023393 START-like_dom
     IPR002913 START_lipid-bd_dom

    Graphical View of Domain Structure for InterPro Entry P49675

    ProtoNet protein and cluster: P49675

    2 Blocks protein domains:
    IPB000799 Steroidogenic acute regulatory protein signature
    IPB002913 Lipid-binding START


    UniProtKB/Swiss-Prot: STAR_HUMAN, P49675
    Similarity: Contains 1 START domain


    STAR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STAR_HUMAN, P49675
    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

         Genatlas biochemistry entry for STAR:
    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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008289lipid binding ----
    GO:0015485cholesterol binding IEA--
    GO:0017127cholesterol transporter activity IEA--
         
    STAR for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for STAR:
     Increased number of cells in m  Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Star):
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  mortality/aging  reproductive system 

    STAR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Startm1Klp for STAR

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for STAR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for STAR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for STAR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for STAR

    miRNA
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    Block miRNA regulation of human, mouse, rat STAR using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate STAR:
    hsa-miR-1179 hsa-miR-4301
    SwitchGear 3'UTR luciferase reporter plasmidSTAR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for STAR
    Predesigned siRNA for gene silencing in human, mouse, rat STAR

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for STAR

    Clone
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    OriGene clones in human, mouse for STAR (see all 11)
    OriGene ORF clones in mouse, rat for STAR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: STAR (NM_000349)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STAR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STAR

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for STAR
    Browse ESI BIO Cell Lines and PureStem Progenitors for STAR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STAR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    STAR_HUMAN, P49675: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus2
    endoplasmic reticulum1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005758mitochondrial intermembrane space TAS--
    GO:0005829cytosol IEA--
    GO:0030061mitochondrial crista IEA--
    GO:0043005neuron projection IEA--

    STAR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for STAR About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    2Metabolism of steroid hormones and vitamin D
    Pregnenolone biosynthesis0.00
    Metabolism of steroid hormones and vitamin D
    3Ca-dependent events
    Development Role of Activin A in cell differentiation and proliferation0.32
    4Ovarian steroidogenesis
    Ovarian steroidogenesis
    5Glucose / Energy Metabolism
    Glucose / Energy Metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for STAR
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for STAR
        Development Role of Activin A in cell differentiation and proliferation

    1 BioSystems Pathway for STAR
        Corticotropin-releasing hormone

    1 Reactome Pathway for STAR
        Pregnenolone biosynthesis


    1 Kegg Pathway  (Kegg details for STAR):
        Ovarian steroidogenesis

    UniProtKB/Swiss-Prot: STAR_HUMAN, P49675
    Pathway: Steroid metabolism; cholesterol metabolism


    STAR for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for STAR
    Interactions:

        GeneGlobe Interaction Network for STAR

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for STAR (P496752, 3 ENSP000002764494) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    FEZ1Q996892, 3MINT-63784 I2D: score=5 
    CCHCR1Q8TD313, ENSP000003795664I2D: score=2 STRING: ENSP00000379566
    ENSG00000206355Q8TD313I2D: score=2 
    ENSG00000206457Q8TD313I2D: score=2 
    ENSG00000234114Q8TD313I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 70):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006082organic acid metabolic process ----
    GO:0006694steroid biosynthetic process TAS7761400
    GO:0006699bile acid biosynthetic process IEA--
    GO:0006700C21-steroid hormone biosynthetic process TAS--
    GO:0006701progesterone biosynthetic process IEA--

    STAR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for STAR

    Selected Novoseek inferred chemical compound relationships for STAR gene (see all 71)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3beta-hydroxysteroid 88.5 32 15819722 (2), 9888537 (1), 10221587 (1), 12519894 (1) (see all 30)
    22r-hydroxycholesterol 83.7 7 16413094 (2), 14711788 (1), 17329077 (1)
    steroid 82.1 175 11410589 (4), 10777507 (3), 11181954 (3), 17400803 (3) (see all 99)
    cholesterol 79.9 376 18341481 (9), 17301050 (8), 11196443 (6), 12459035 (6) (see all 99)
    progesterone 78.4 145 10098511 (6), 12297550 (5), 16469751 (5), 16690799 (4) (see all 70)
    testosterone 69.1 46 16930210 (3), 9863627 (2), 20337700 (2), 20083153 (2) (see all 36)
    forskolin 63.7 26 11410589 (3), 8961254 (2), 10221587 (2), 10999829 (2) (see all 13)
    17beta-hydroxysteroid 58.6 7 17447562 (1), 16700073 (1), 18559981 (1), 11479137 (1) (see all 6)
    8-bromo-cyclic amp 58.1 3 16690799 (1), 7761400 (1), 10473624 (1)
    epoxomicin 58 3 12530639 (1), 17579211 (1), 17218054 (1)



    STAR for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for STAR gene (2 alternative transcripts): 
    NM_000349.2  NM_001007243.1  

    Unigene Cluster for STAR:

    Steroidogenic acute regulatory protein
    Hs.521535  [show with all ESTs]
    Unigene Representative Sequence: NM_000349
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000276449(uc003xkv.1) ENST00000520114 ENST00000522050 ENST00000521236

    miRNA
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    Block miRNA regulation of human, mouse, rat STAR using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate STAR:
    hsa-miR-1179 hsa-miR-4301
    SwitchGear 3'UTR luciferase reporter plasmidSTAR 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat STAR
    Clone
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    OriGene clones in human, mouse for STAR (see all 11)
    OriGene ORF clones in mouse, rat for STAR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: STAR (NM_000349)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STAR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STAR
    Primer
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    OriGene qPCR primer pairs and template standards for STAR
    OriGene qSTAR qPCR primer pairs in human, mouse for STAR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STAR
      QuantiTect SYBR Green Assays in human, mouse, rat STAR
      QuantiFast Probe-based Assays in human, mouse, rat STAR

    Additional mRNA sequence: 

    AF035277.1 AK315122.1 AY532319.1 BC010550.1 CR456803.1 CR541850.1 S79669.1 U17280.1 

    Selected DOTS entries (see all 28):

    DT.100884134  DT.95277192  DT.217188  DT.92462007  DT.95277227  DT.95277223  DT.120637260  DT.120637321 
    DT.120637337  DT.120637191  DT.95277195  DT.95277186  DT.95277216  DT.92461997  DT.95277213  DT.95277220 
    DT.97857453  DT.120637221  DT.120637289  DT.120637336  DT.92462005  DT.95277188  DT.95277190  DT.95277202 

    Selected AceView cDNA sequences (see all 357):

    AI192614 AA604770 AV707141 AV707500 AI971455 AI015885 AA349000 AV706225 
    AY532319 AV707023 AA349178 AV711049 AA868988 BC010550 AI200533 AV708619 
    AA424420 AA564860 AI672564 AV705821 AA329875 AV705375 AW571980 AV703377 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for STAR (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for STAR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    STAR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCCCTATT
    STAR Expression
    About this image


    STAR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Adrenal Gland (Endocrine System)    fully expand to see all 4 entries
             adrenal gland ; glandular cells   
             gland/adrenal gland/medulla   
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Granulosa Cells Primary Follicle
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
     
     Liver (Hepatobiliary System)
             Mature Mesothelial Cells Hepatic Mesenchyme
     
     Gonad
             XY Germ Cells Testis Cord
    STAR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STAR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521535

    UniProtKB/Swiss-Prot: STAR_HUMAN, P49675
    Tissue specificity: Expressed in gonads, adrenal cortex and kidney

        Custom PCR Arrays for STAR
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STAR
    QuantiTect SYBR Green Assays in human, mouse, rat STAR
    QuantiFast Probe-based Assays in human, mouse, rat STAR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STAR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for STAR gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Star1 , 5 steroidogenic acute regulatory protein1, 5 83.57(n)1
    87.32(a)1
      8 (14.17 cM)5
    208451  NM_011485.41  NP_035615.21 
     258084745 
    chicken
    (Gallus gallus)
    Aves STAR1 steroidogenic acute regulatory protein 74.79(n)
    72.36(a)
      395421  NM_204686.2  NP_990017.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    83(a)
    many ↔ many
    GL343406.1(675643-677069)
    African clawed frog
    (Xenopus laevis)
    Amphibia star-A2 steroidogenic acute regulatory protein 73.19(n)    AF220437.1 
    zebrafish
    (Danio rerio)
    Actinopterygii star2 steroidogenic acute regulatory protein 73.04(n)   63999  AF220435.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Start16
    Start1
    10(a)
    1 → many
    2R(20462079-20465199)
    worm
    (Caenorhabditis elegans)
    Secernentea tag-3406
    Protein TAG-340 (tag-340) mRNA, complete cds
    10(a)
    1 → many
    III(4900073-4903179) WBGene00017826


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for STAR gene
    STARD3NL2  STARD32  
    1 SIMAP similar gene for STAR using alignment to 8 protein entries:     STAR_HUMAN (see all proteins):
    STARD3

    STAR for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for STAR
    PGOHUM00000256723 PGOHUM00000256724


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for STAR (see all 313)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289384711,2,4
    Adrenal hyperplasia 1 (AH1)4--see VAR_0142382 mis40--------
    VAR_0142374
    Adrenal hyperplasia 1 (AH1)4--see VAR_0142372 E K mis40--------
    VAR_0142424
    Adrenal hyperplasia 1 (AH1)4--see VAR_0142422 L P mis40--------
    VAR_0142404
    Adrenal hyperplasia 1 (AH1)4--see VAR_0142402 M T mis40--------
    VAR_0142364
    Adrenal hyperplasia 1 (AH1)4--see VAR_0142362 E G mis40--------
    VAR_0142394
    Adrenal hyperplasia 1 (AH1)4--see VAR_0142392 A V mis40--------
    VAR_0056274
    Adrenal hyperplasia 1 (AH1)4--see VAR_0056272 R L mis40--------
    rs1048940851,2
    Cpathogenic138229446(-) TCAACC/TAGGTC 2 Q * stg10--------
    rs1048940871,2
    Cpathogenic138229469(-) GGGGTA/GGCTGC 2 * W stg10--------
    rs1048940901,2
    Cpathogenic138231135(-) GCGTGC/TGCTGT 2 R C mis10--------

    HapMap Linkage Disequilibrium report for STAR (38000218 - 38008783 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for STAR: --
    Human Gene Mutation Database (HGMD): STAR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing STAR
    DNA2.0 Custom Variant and Variant Library Synthesis for STAR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600617   
    OMIM disorders: 201710  
    UniProtKB/Swiss-Prot: STAR_HUMAN, P49675
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for STAR (see all 42):    
    About MalaCards
    non-classic congenital lipoid adrenal hyperplasia due to star deficency    cholesterol desmolase-deficient congenital adrenal hyperplasia    lipoid adrenal hyperplasia    classic congenital lipoid adrenal hyperplasia due to star deficency
    adrenal carcinoma    congenital adrenal insufficiency    glucocorticoid deficiency, due to acth unresponsiveness    star syndrome
    familial glucocorticoid deficiency    congenital adrenal hyperplasia    dosage-sensitive sex reversal    smith-lemli-opitz syndrome
    ovarian disease    addison's disease    adrenocortical carcinoma    pseudohermaphroditism
    leydig cell tumor    hypogonadotropism    cholera    hyperandrogenism

    4 diseases from the University of Copenhagen DISEASES database for STAR:
    Congenital adrenal insufficiency     Polycystic ovary syndrome     Infertility     Ovarian disease

    STAR for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for STAR gene (see all 32)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipoid congenital adrenal hyperplasia 98.1 59 11502818 (3), 9097960 (2), 9657690 (2), 11509019 (2) (see all 41)
    leydig cell tumor 86.7 23 10098511 (2), 15814901 (2), 9348220 (2), 8961254 (1) (see all 17)
    carcinoma adrenocortical 68.2 4 9918804 (1), 11595506 (1), 8824897 (1), 8708561 (1)
    addisons disease 63.9 4 12727988 (1), 18202527 (1), 16901926 (1), 17400803 (1)
    adrenal hypoplasia, congenital 54.8 1 15181096 (1)
    adrenal tumor 51 6 9832418 (1), 10403575 (1), 11595506 (1), 11774288 (1)
    granulosa cell tumor 50.2 1 15181096 (1)
    adrenal hyperplasia 45.8 2 15289763 (1), 8708561 (1)
    adrenal hyperplasia congenital 45.7 1 9888583 (1)
    polycystic ovaries 43.5 2 11744913 (1), 19698287 (1)

    Genatlas disease: STAR
    congenital lipoid adrenal hyperplasia,with neonatal onset of severe adrenal insufficiency and male
    pseudohermaphroditism

    Genetic Association Database (GAD): STAR
    Human Genome Epidemiology (HuGE) Navigator: STAR (18 documents)

    Export disorders for STAR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for STAR gene, integrated from 10 sources (see all 457):
    (articles sorted by number of sources associating them with STAR)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 7761400)1, 2, 3, 9 Sugawara T....Stocco D.M. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    2. The steroidogenic acute regulatory protein (StAR): a window into the complexities of intracellular cholesterol trafficking. (PubMed id 10548884)1, 2, 9 Strauss J.F. III... Sugawara T. (Recent Prog. Horm. Res. 1999)
    3. Genetic variation in CYP11A1 and StAR in relation to endometrial cancer risk. (PubMed id 20199803)1, 4, 9 Terry K....De Vivo I. (Gynecol. Oncol. 2010)
    4. Structure of the human steroidogenic acute regulatory protein (StAR) gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity. (PubMed id 7547998)1, 2, 9 Sugawara T....Strauss J.F. III (Biochemistry 1995)
    5. Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. (PubMed id 9097960)1, 2, 9 Nakae J.... Fujieda K. (Hum. Mol. Genet. 1997)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. (PubMed id 19903795)1, 4 Dias R.P....Clark A.J. (Eur. J. Endocrinol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6770 HGNC: 11359 AceView: STAR Ensembl:ENSG00000147465 euGenes: HUgn6770
    ECgene: STAR Kegg: 6770 H-InvDB: STAR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for STAR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for STAR Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Steroidogenic_acute_regulatory_protein
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=STAR[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for STAR gene:
    Search GeneIP for patents involving STAR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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