ENSG00000147465


Homo sapiens

Features
Gene ID: ENSG00000147465
  
Biological name :STAR
  
Synonyms : P49675 / STAR / steroidogenic acute regulatory protein
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: p11.23
Gene start: 38143649
Gene end: 38151265
  
Corresponding Affymetrix probe sets: 204548_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000430030
Ensembl peptide - ENSP00000276449
Ensembl peptide - ENSP00000429009
NCBI entrez gene - 6770     See in Manteia.
OMIM - 600617
RefSeq - XM_006716392
RefSeq - NM_000349
RefSeq Peptide - NP_000340
swissprot - E5RH12
swissprot - P49675
swissprot - Q6IBK0
swissprot - H0YB94
Ensembl - ENSG00000147465
  
Related genetic diseases (OMIM): 201710 - Lipoid adrenal hyperplasia, 201710
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 starENSDARG00000006137Danio rerio
 STARENSGALG00000003242Gallus gallus
 StarENSMUSG00000031574Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q14849 / STARD3 / StAR related lipid transfer domain containing 3ENSG0000013174832
O95772 / STARD3NL / STARD3 N-terminal likeENSG000000102706


Protein motifs (from Interpro)
Interpro ID Name
 IPR000799  Steroidogenic acute regulatory protein-like
 IPR002913  START domain
 IPR023393  START-like domain superfamily
 IPR029866  Steroidogenic acute regulatory protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006082 organic acid metabolic process IEA
 biological_processGO:0006694 steroid biosynthetic process IEA
 biological_processGO:0006699 bile acid biosynthetic process IEA
 biological_processGO:0006700 C21-steroid hormone biosynthetic process TAS
 biological_processGO:0006703 estrogen biosynthetic process IEA
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0007623 circadian rhythm IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0008211 glucocorticoid metabolic process IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0009635 response to herbicide IEA
 biological_processGO:0009636 response to toxic substance IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0010212 response to ionizing radiation IEA
 biological_processGO:0010288 response to lead ion IEA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0014823 response to activity IEA
 biological_processGO:0016101 diterpenoid metabolic process IEA
 biological_processGO:0017085 response to insecticide IEA
 biological_processGO:0017143 insecticide metabolic process IEA
 biological_processGO:0018879 biphenyl metabolic process IEA
 biological_processGO:0018894 dibenzo-p-dioxin metabolic process IEA
 biological_processGO:0018958 phenol-containing compound metabolic process IEA
 biological_processGO:0018963 phthalate metabolic process IEA
 biological_processGO:0030301 cholesterol transport IEA
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0032367 intracellular cholesterol transport IEA
 biological_processGO:0032869 cellular response to insulin stimulus IEA
 biological_processGO:0034698 response to gonadotropin IEA
 biological_processGO:0035094 response to nicotine IEA
 biological_processGO:0035457 cellular response to interferon-alpha IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042542 response to hydrogen peroxide IEA
 biological_processGO:0042747 circadian sleep/wake cycle, REM sleep IEA
 biological_processGO:0043434 response to peptide hormone IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0043627 response to estrogen IEA
 biological_processGO:0044255 cellular lipid metabolic process IEA
 biological_processGO:0044321 response to leptin IEA
 biological_processGO:0044344 cellular response to fibroblast growth factor stimulus IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0046677 response to antibiotic IEA
 biological_processGO:0048168 regulation of neuronal synaptic plasticity IEA
 biological_processGO:0048545 response to steroid hormone IEA
 biological_processGO:0050769 positive regulation of neurogenesis IEA
 biological_processGO:0050810 regulation of steroid biosynthetic process IEA
 biological_processGO:0051412 response to corticosterone IEA
 biological_processGO:0060992 response to fungicide IEA
 biological_processGO:0061370 testosterone biosynthetic process IEA
 biological_processGO:0070859 positive regulation of bile acid biosynthetic process IDA
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0071236 cellular response to antibiotic IEA
 biological_processGO:0071248 cellular response to metal ion IEA
 biological_processGO:0071276 cellular response to cadmium ion IEA
 biological_processGO:0071312 cellular response to alkaloid IEA
 biological_processGO:0071320 cellular response to cAMP IEA
 biological_processGO:0071333 cellular response to glucose stimulus IEA
 biological_processGO:0071346 cellular response to interferon-gamma IEA
 biological_processGO:0071371 cellular response to gonadotropin stimulus IEA
 biological_processGO:0071372 cellular response to follicle-stimulating hormone stimulus IEA
 biological_processGO:0071373 cellular response to luteinizing hormone stimulus IEA
 biological_processGO:0071378 cellular response to growth hormone stimulus IEA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:0071549 cellular response to dexamethasone stimulus IEA
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus IEA
 biological_processGO:0071872 cellular response to epinephrine stimulus IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005758 mitochondrial intermembrane space IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0030061 mitochondrial crista IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0015485 cholesterol binding IEA
 molecular_functionGO:0017127 cholesterol transporter activity IEA


Pathways (from Reactome)
Pathway description
Pregnenolone biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000047 Hypospadias "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators]
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 HP:0000127 Renal salt wasting 
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 HP:0000840 Adrenogenital syndrome 
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 HP:0008258 Congenital adrenal hyperplasia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000010270 O95772 / STARD3NL / STARD3 N-terminal like  / reaction
 ENSG00000131748 Q14849 / STARD3 / StAR related lipid transfer domain containing 3  / reaction






 

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