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STAR steroidogenic acute regulatory protein [ Homo sapiens (human) ]

Gene ID: 6770, updated on 13-Feb-2019

Summary

Official Symbol
STARprovided by HGNC
Official Full Name
steroidogenic acute regulatory proteinprovided by HGNC
Primary source
HGNC:HGNC:11359
See related
Ensembl:ENSG00000147465 MIM:600617
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
STARD1
Summary
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]
Expression
Biased expression in adrenal (RPKM 722.2), ovary (RPKM 68.2) and 1 other tissue See more
Orthologs

Genomic context

See STAR in Genome Data Viewer
Location:
8p11.23
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (38142700..38151082, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (38000218..38008783, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4E binding protein 1 Neighboring gene ASH2 like, histone lysine methyltransferase complex subunit Neighboring gene RNA, U6 small nuclear 988, pseudogene Neighboring gene STAR 5' regulatory region Neighboring gene uncharacterized LOC105379382 Neighboring gene RNA, U6 small nuclear 323, pseudogene Neighboring gene LSM1 homolog, mRNA degradation associated

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cholesterol monooxygenase (side-chain cleaving) deficiency
MedGen: C0342474 OMIM: 201710 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations.
NHGRI GWA Catalog

Pathways from BioSystems

  • Aldosterone synthesis and secretion, organism-specific biosystem (from KEGG)
    Aldosterone synthesis and secretion, organism-specific biosystemAldosterone is a steroid hormone synthesized in and secreted from the outer layer of the adrenal cortex, the zona glomerulosa. Aldosterone plays an important role in the regulation of systemic blood ...
  • Aldosterone synthesis and secretion, conserved biosystem (from KEGG)
    Aldosterone synthesis and secretion, conserved biosystemAldosterone is a steroid hormone synthesized in and secreted from the outer layer of the adrenal cortex, the zona glomerulosa. Aldosterone plays an important role in the regulation of systemic blood ...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Corticotropin-releasing hormone signaling pathway, organism-specific biosystem (from WikiPathways)
    Corticotropin-releasing hormone signaling pathway, organism-specific biosystemCorticotropin-releasing hormone (CRH) is a neuropeptide secreted abundantly in the paraventricular nucleus of the hypothalamus, amygdala, cerebral cortex and cerebellum in the central nervous system ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of steroid hormones, organism-specific biosystem (from REACTOME)
    Metabolism of steroid hormones, organism-specific biosystemSteroid hormones are synthesized primarily in the adrenal gland and gonads. They regulate energy metabolism and stress responses (glucocorticoids), salt balance (mineralocorticoids), and sexual devel...
  • Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
    Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Ovarian steroidogenesis, conserved biosystem (from KEGG)
    Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Pregnenolone biosynthesis, organism-specific biosystem (from REACTOME)
    Pregnenolone biosynthesis, organism-specific biosystemThe first process in the synthesis of all steroid hormones is the synthesis of pregnenolone from cholesterol. In this process, cholesterol mobilized from cytosolic lipid droplets or from lysosomes is...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol transporter activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
C21-steroid hormone biosynthetic process TAS
Traceable Author Statement
more info
 
bile acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
biphenyl metabolic process IEA
Inferred from Electronic Annotation
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular response to alkaloid IEA
Inferred from Electronic Annotation
more info
 
cellular response to antibiotic IEA
Inferred from Electronic Annotation
more info
 
cellular response to cAMP IEA
Inferred from Electronic Annotation
more info
 
cellular response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to dexamethasone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to epinephrine stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to fibroblast growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to follicle-stimulating hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to growth hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to interferon-alpha IEA
Inferred from Electronic Annotation
more info
 
cellular response to interferon-gamma IEA
Inferred from Electronic Annotation
more info
 
cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
cellular response to luteinizing hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to transforming growth factor beta stimulus IEA
Inferred from Electronic Annotation
more info
 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
circadian sleep/wake cycle, REM sleep IEA
Inferred from Electronic Annotation
more info
 
dibenzo-p-dioxin metabolic process IEA
Inferred from Electronic Annotation
more info
 
diterpenoid metabolic process IEA
Inferred from Electronic Annotation
more info
 
estrogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glucocorticoid metabolic process IEA
Inferred from Electronic Annotation
more info
 
insecticide metabolic process IEA
Inferred from Electronic Annotation
more info
 
intracellular cholesterol transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
phenol-containing compound metabolic process IEA
Inferred from Electronic Annotation
more info
 
phthalate metabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bile acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of neuronal synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
regulation of steroid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to corticosterone IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to fungicide IEA
Inferred from Electronic Annotation
more info
 
response to herbicide IEA
Inferred from Electronic Annotation
more info
 
response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
response to ionizing radiation IEA
Inferred from Electronic Annotation
more info
 
response to lead ion IEA
Inferred from Electronic Annotation
more info
 
response to leptin IEA
Inferred from Electronic Annotation
more info
 
response to nicotine IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
steroid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
testosterone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
mitochondrial crista IEA
Inferred from Electronic Annotation
more info
 
mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial intermembrane space TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
steroidogenic acute regulatory protein, mitochondrial
Names
START domain containing 1
START domain-containing protein 1
StAR related lipid transfer (START) domain containing 1
cholesterol trafficker
mitochondrial steroid acute regulatory protein
steroid acute regulatory protein
steroidogenic acute regulator
testis secretory sperm-binding protein Li 241mP

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011827.1 RefSeqGene

    Range
    5001..13383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000349.2NP_000340.2  steroidogenic acute regulatory protein, mitochondrial

    See identical proteins and their annotated locations for NP_000340.2

    Status: REVIEWED

    Source sequence(s)
    AC084024, AL526126, AV706111, AV706872, AV707696, BC010550, U17280
    Consensus CDS
    CCDS6102.1
    UniProtKB/Swiss-Prot
    P49675
    UniProtKB/TrEMBL
    Q6IBK0
    Related
    ENSP00000276449.3, ENST00000276449.8
    Conserved Domains (1) summary
    cd08905
    Location:70278
    START_STARD1-like; Cholesterol-binding START domain of mammalian STARD1 and related proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    38142700..38151082 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001007243.1: Suppressed sequence

    Description
    NM_001007243.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which aligns to the reference genome with poorly supported non-consensus splice sites.
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