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STARD3 (START domain containing 3)

Written2000-03Marie-Christine Rio
I.G.B.M.C, 1, rue Laurent FRIES, BP 163 67404 ILLKIRH, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesSTART domain containing 3
Alias_symbol (synonym)es64
MLN64
Other aliasCAB1
HGNC (Hugo) STARD3
LocusID (NCBI) 10948
Atlas_Id 202
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 39637080 and ends at 39664201 bp from pter ( according to hg19-Feb_2009)  [Mapping STARD3.png]
Local_order from centromere to telomere are: TRAF4 (alias MLN62/CART1), Lasp1 (alias MLN50), c-erbB2, and MLN64
Fusion genes
(updated 2016)
PGAP3 (17q12) / STARD3 (17q12)STARD3 (17q12) / BEAN1 (16q21)STARD3 (17q12) / C17orf98 (17q12)
STARD3 (17q12) / DOCK5 (8p21.2)STARD3 (17q12) / DOK5 (20q13.2)STARD3 (17q12) / GSDMB (17q12)
STARD3 (17q12) / STRADA (17q23.3)STARD3 (17q12) / TCAP (17q12)

DNA/RNA

Transcription cDNA: 2.1 kb; coding sequence: 1335 bp

Protein

Description 445 amino acids; 50 kDa; contains four putative transmembrane domains at its N-terminal part; posseses a StAR Homology Domain at its C-terminal part
Homology with StAR (Steroidogenic Acute Regulatory protein)

Implicated in

Note
  
Entity breast carcinomas
Disease 17q11-q21 amplification is found in about 25% of primary breast carcinomas
Prognosis poor clinical outcome; increase risk of relapse
  

Bibliography

Isolation of a candidate gene, CAB1, for cholesterol transport to mitochondria from the c-ERBB-2 amplicon by a modified cDNA selection method.
Akiyama N, Sasaki H, Ishizuka T, Kishi T, Sakamoto H, Onda M, Hirai H, Yazaki Y, Sugimura T, Terada M
Cancer research. 1997 ; 57 (16) : 3548-3553.
PMID 9270027
 
Two distinct amplified regions at 17q11-q21 involved in human primary breast cancer.
Bièche I, Tomasetto C, Régnier CH, Moog-Lutz C, Rio MC, Lidereau R
Cancer research. 1996 ; 56 (17) : 3886-3890.
PMID 8752152
 
MLN64 exhibits homology with the steroidogenic acute regulatory protein (STAR) and is over-expressed in human breast carcinomas.
Moog-Lutz C, Tomasetto C, Régnier CH, Wendling C, Lutz Y, Muller D, Chenard MP, Basset P, Rio MC
International journal of cancer. Journal international du cancer. 1997 ; 71 (2) : 183-191.
PMID 9139840
 
Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17.
Tomasetto C, Régnier C, Moog-Lutz C, Mattei MG, Chenard MP, Lidereau R, Basset P, Rio MC
Genomics. 1995 ; 28 (3) : 367-376.
PMID 7490069
 
MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis.
Watari H, Arakane F, Moog-Lutz C, Kallen CB, Tomasetto C, Gerton GL, Rio MC, Baker ME, Strauss JF 3rd
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (16) : 8462-8467.
PMID 9237999
 

Citation

This paper should be referenced as such :
Rio, MC
STARD3 (START domain containing 3)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):54-54.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MLN64ID202.html


External links

Nomenclature
HGNC (Hugo)STARD3   17579
Cards
AtlasMLN64ID202
Entrez_Gene (NCBI)STARD3  10948  StAR related lipid transfer domain containing 3
AliasesCAB1; MLN64; es64
GeneCards (Weizmann)STARD3
Ensembl hg19 (Hinxton)ENSG00000131748 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131748 [Gene_View]  chr17:39637080-39664201 [Contig_View]  STARD3 [Vega]
ICGC DataPortalENSG00000131748
TCGA cBioPortalSTARD3
AceView (NCBI)STARD3
Genatlas (Paris)STARD3
WikiGenes10948
SOURCE (Princeton)STARD3
Genetics Home Reference (NIH)STARD3
Genomic and cartography
GoldenPath hg38 (UCSC)STARD3  -     chr17:39637080-39664201 +  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)STARD3  -     17q12   [Description]    (hg19-Feb_2009)
EnsemblSTARD3 - 17q12 [CytoView hg19]  STARD3 - 17q12 [CytoView hg38]
Mapping of homologs : NCBISTARD3 [Mapview hg19]  STARD3 [Mapview hg38]
OMIM607048   
Gene and transcription
Genbank (Entrez)AB209772 AK123364 AK225069 AK300176 AK300842
RefSeq transcript (Entrez)NM_001165937 NM_001165938 NM_006804
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)STARD3
Cluster EST : UnigeneHs.728838 [ NCBI ]
CGAP (NCI)Hs.728838
Alternative Splicing GalleryENSG00000131748
Gene ExpressionSTARD3 [ NCBI-GEO ]   STARD3 [ EBI - ARRAY_EXPRESS ]   STARD3 [ SEEK ]   STARD3 [ MEM ]
Gene Expression Viewer (FireBrowse)STARD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10948
GTEX Portal (Tissue expression)STARD3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14849   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14849  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14849
Splice isoforms : SwissVarQ14849
PhosPhoSitePlusQ14849
Domaine pattern : Prosite (Expaxy)MENTAL (PS51439)    START (PS50848)   
Domains : Interpro (EBI)MENTAL    StAR-like    STARD3_MLN64    START-like_dom    START_lipid-bd_dom   
Domain families : Pfam (Sanger)MENTAL (PF10457)    START (PF01852)   
Domain families : Pfam (NCBI)pfam10457    pfam01852   
Domain families : Smart (EMBL)START (SM00234)  
Conserved Domain (NCBI)STARD3
DMDM Disease mutations10948
Blocks (Seattle)STARD3
PDB (SRS)1EM2    2I92    5I9J   
PDB (PDBSum)1EM2    2I92    5I9J   
PDB (IMB)1EM2    2I92    5I9J   
PDB (RSDB)1EM2    2I92    5I9J   
Structural Biology KnowledgeBase1EM2    2I92    5I9J   
SCOP (Structural Classification of Proteins)1EM2    2I92    5I9J   
CATH (Classification of proteins structures)1EM2    2I92    5I9J   
SuperfamilyQ14849
Human Protein AtlasENSG00000131748
Peptide AtlasQ14849
HPRD06132
IPIIPI00000865   IPI00797338   IPI00791954   IPI00791237   
Protein Interaction databases
DIP (DOE-UCLA)Q14849
IntAct (EBI)Q14849
FunCoupENSG00000131748
BioGRIDSTARD3
STRING (EMBL)STARD3
ZODIACSTARD3
Ontologies - Pathways
QuickGOQ14849
Ontology : AmiGOprotein binding  cytoplasm  mitochondrion  lysosomal membrane  late endosome  cytosol  lipid metabolic process  C21-steroid hormone biosynthetic process  progesterone biosynthetic process  mitochondrial transport  steroid metabolic process  cholesterol metabolic process  cholesterol binding  integral component of membrane  cholesterol transporter activity  cholesterol transport  late endosome membrane  
Ontology : EGO-EBIprotein binding  cytoplasm  mitochondrion  lysosomal membrane  late endosome  cytosol  lipid metabolic process  C21-steroid hormone biosynthetic process  progesterone biosynthetic process  mitochondrial transport  steroid metabolic process  cholesterol metabolic process  cholesterol binding  integral component of membrane  cholesterol transporter activity  cholesterol transport  late endosome membrane  
REACTOMEQ14849 [protein]
REACTOME PathwaysR-HSA-196108 [pathway]   
NDEx NetworkSTARD3
Atlas of Cancer Signalling NetworkSTARD3
Wikipedia pathwaysSTARD3
Orthology - Evolution
OrthoDB10948
GeneTree (enSembl)ENSG00000131748
Phylogenetic Trees/Animal Genes : TreeFamSTARD3
HOVERGENQ14849
HOGENOMQ14849
Homologs : HomoloGeneSTARD3
Homology/Alignments : Family Browser (UCSC)STARD3
Gene fusions - Rearrangements
Fusion : MitelmanSTARD3/DOCK5 [17q12/8p21.2]  
Fusion : MitelmanSTARD3/DOK5 [17q12/20q13.2]  [t(17;20)(q12;q13)]  
Fusion : MitelmanSTARD3/STRADA [17q12/17q23.3]  [t(17;17)(q12;q23)]  
Fusion: TCGAPGAP3 17q12 STARD3 17q12 BLCA
Fusion: TCGASTARD3 17q12 C17orf98 17q12 BRCA
Fusion: TCGASTARD3 17q12 GSDMB 17q12 LUAD
Fusion: TCGASTARD3 17q12 STRADA 17q23.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTARD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STARD3
dbVarSTARD3
ClinVarSTARD3
1000_GenomesSTARD3 
Exome Variant ServerSTARD3
ExAC (Exome Aggregation Consortium)STARD3 (select the gene name)
Genetic variants : HAPMAP10948
Genomic Variants (DGV)STARD3 [DGVbeta]
DECIPHERSTARD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSTARD3 
Mutations
ICGC Data PortalSTARD3 
TCGA Data PortalSTARD3 
Broad Tumor PortalSTARD3
OASIS PortalSTARD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTARD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSTARD3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch STARD3
DgiDB (Drug Gene Interaction Database)STARD3
DoCM (Curated mutations)STARD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)STARD3 (select a term)
intoGenSTARD3
NCG5 (London)STARD3
Cancer3DSTARD3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607048   
Orphanet
MedgenSTARD3
Genetic Testing Registry STARD3
NextProtQ14849 [Medical]
TSGene10948
GENETestsSTARD3
Target ValidationSTARD3
Huge Navigator STARD3 [HugePedia]
snp3D : Map Gene to Disease10948
BioCentury BCIQSTARD3
ClinGenSTARD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10948
Chemical/Pharm GKB GenePA134981867
Clinical trialSTARD3
Miscellaneous
canSAR (ICR)STARD3 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSTARD3
EVEXSTARD3
GoPubMedSTARD3
iHOPSTARD3
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:08:26 CEST 2017

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