Description: Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA. RefSeq Summary (NM_006804): This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]. Transcript (Including UTRs) Position: hg19 chr17:37,793,333-37,820,454 Size: 27,122 Total Exon Count: 15 Strand: + Coding Region Position: hg19 chr17:37,809,785-37,819,161 Size: 9,377 Coding Exon Count: 14
ID:STAR3_HUMAN DESCRIPTION: RecName: Full=StAR-related lipid transfer protein 3; AltName: Full=Metastatic lymph node gene 64 protein; Short=MLN 64; AltName: Full=Protein CAB1; AltName: Full=START domain-containing protein 3; Short=StARD3; FUNCTION: Binds and transports cholesterol. Promotes steroidogenesis in placenta and brain. SUBUNIT: Can form homodimers. Interacts with STARD3NL. SUBCELLULAR LOCATION: Late endosome membrane; Multi-pass membrane protein. SIMILARITY: Contains 1 MENTAL domain. SIMILARITY: Contains 1 START domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MLN64ID202.html";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): STARD3 CDC HuGE Published Literature: STARD3 Positive Disease Associations: Cholesterol, HDL Related Studies:
Cholesterol, HDL Tanya M Teslovich et al. Nature 2010, Biological, clinical and population relevance of 95 loci for blood lipids., Nature.
[PubMed 20686565]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14849
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006629 lipid metabolic process GO:0006700 C21-steroid hormone biosynthetic process GO:0006701 progesterone biosynthetic process GO:0006839 mitochondrial transport GO:0006869 lipid transport GO:0008202 steroid metabolic process GO:0008203 cholesterol metabolic process GO:0030301 cholesterol transport GO:0099044 vesicle tethering to endoplasmic reticulum
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
