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STARD3 (START domain containing 3)

Identity

Other namesMLN64
CAB1
HGNC (Hugo) STARD3
Location 17q12-21
Location_base_pair Starts at 35046938 and ends at 35073250 bp from pter ( according to hg18-Mar_2006)  [Mapping]
Local_order from centromere to telomere are: TRAF4 (alias MLN62/CART1), Lasp1 (alias MLN50), c-erbB2, and MLN64

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

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

External links

Nomenclature
HGNC (Hugo)STARD3   17579
Entrez_Gene (NCBI)STARD3  10948  StAR-related lipid transfer (START) domain containing 3
Cards
AtlasMLN64ID202
GeneCards (Weizmann)STARD3
Ensembl (Hinxton)ENSG00000131748 [Gene_View]  STARD3 [Vega]
AceView (NCBI)STARD3
Genatlas (Paris)STARD3
euGene (Indiana)10948
SOURCE (Stanford)NM_001165937 NM_001165938 NM_006804
Gene Expression (Array Express) ENSG00000131748
Genomic and cartography
GoldenPath (UCSC)STARD3  -     chr17:35046938-35073250 +  17q11-q12   [Description]    (hg18-Mar_2006)
EnsemblSTARD3 - 17q11-q12 [CytoView]
Mapping of homologs : NCBISTARD3 [Mapview]
OMIM607048   
Gene and transcription
Gene : Genbank (Entrez)AB209772 AK123364 AK225069 AK300176 AK300842
Reference sequence (RefSeq transcript) :SRSNM_001165937 NM_001165938 NM_006804
Reference transcript : EntrezNM_001165937 NM_001165938 NM_006804
RefSeq genomic : SRSAC_000060 AC_000149 NC_000017 NT_010783 NW_001838435 NW_926828
RefSeq genomic : EntrezAC_000060 AC_000149 NC_000017 NT_010783 NW_001838435 NW_926828
Consensus coding sequences : CCDS NCBISTARD3
Cluster EST : UnigeneHs.77628 [ SRS ] Hs.77628 [ NCBI ]
Alternative Splicing : Fast-db (Paris)9555
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ14849 (SRS) Q14849 (Expasy) Q14849 (Uniprot)
With graphics : InterProQ14849
Splice isoforms : VarSplice FASTAQ14849(VarSplice FASTA)
Domaine pattern : Prosite (SRS)MENTAL (PS51439)    START (PS50848)   
Domain pattern : Prosite (Expaxy)MENTAL (PS51439)    START (PS50848)   
Domains : Interpro (SRS)MENTAL    StAR    START_lipid_bd   
Domains : Interpro (EBI)MENTAL    StAR    START_lipid_bd   
Related proteins : CluSTrQ14849
Domain families : Pfam SRSMENTAL (PF10457)    START (PF01852)   
Domain families : Pfam SangerMENTAL (PF10457)    START (PF01852)   
Domain families : Pfam NCBIpfam10457    pfam01852   
Domain families : Smart EMBLSTART (SM00234)  
Blocks (Seattle)Q14849
Crystal structure of protein : PDB SRS1EM2    2I92   
Crystal structure of protein : PDBSum1EM2    2I92   
Crystal structure of protein : IMB1EM2    2I92   
Crystal structure of protein : PDB RSDB1EM2    2I92   
HPRD06132
Protein Interaction databases
DIP (DOE-UCLA)Q14849
IntAct (EBI)Q14849
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBISTARD3
SNP : GeneSNP UtahSTARD3
SNP : HGBaseSTARD3
Genetic variants : HAPMAPSTARD3
Somatic Mutations in Cancer : COSMICSTARD3 
Mutations and Diseases : HGMDSTARD3
Hereditary diseases : OMIM607048   
Hereditary diseases : GENETests607048   
Diseases : Genetic AssociationSTARD3
General knowledge
Homologs : HomoloGeneSTARD3
Homology/Alignments : Family Browser UCSCSTARD3
Phylogenetic Trees/Animal Genes : TreeFamSTARD3
Chemical/Protein Interactions : CTD10948
Keywords Ontology : AmiGOcytoplasm  endosome  lipid metabolic process  steroid biosynthetic process  mitochondrial transport  lipid transport  cholesterol metabolic process  lipid binding  cholesterol binding  membrane  integral to membrane  cholesterol transporter activity  
Keywords Ontology : EGO-EBIcytoplasm  endosome  lipid metabolic process  steroid biosynthetic process  mitochondrial transport  lipid transport  cholesterol metabolic process  lipid binding  cholesterol binding  membrane  integral to membrane  cholesterol transporter activity  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesSTARD3 Related clones (RZPD - Berlin)
Literature
PubMed27 Pubmed reference(s) in Entrez
PubGeneSTARD3

Bibliography

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, Rˆ©gnier C, Moog-Lutz C, Mattei MG, Chenard MP, Lidereau R, Basset P, Rio MC
Genomics. 1995 ; 28 (3) : 367-376.
PMID 7490069
 
Two distinct amplified regions at 17q11-q21 involved in human primary breast cancer.
Biˆ®che I, Tomasetto C, Rˆ©gnier CH, Moog-Lutz C, Rio MC, Lidereau R
Cancer research. 1996 ; 56 (17) : 3886-3890.
PMID 8752152
 
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
 
MLN64 exhibits homology with the steroidogenic acute regulatory protein (STAR) and is over-expressed in human breast carcinomas.
Moog-Lutz C, Tomasetto C, Rˆ©gnier 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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written03-2000Marie-Christine Rio

Citation

This paper should be referenced as such :
Rio MC . STARD3 (START domain containing 3). Atlas Genet Cytogenet Oncol Haematol. March 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/MLN64ID202.html

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indexed on : Sat Feb 27 10:54:17 CET 2010
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