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Aliases for STARD3 Gene

Aliases for STARD3 Gene

  • StAR Related Lipid Transfer Domain Containing 3 2 3 5
  • Metastatic Lymph Node Gene 64 Protein 3 4
  • START Domain-Containing Protein 3 3 4
  • MLN 64 3 4
  • MLN64 3 4
  • CAB1 3 4
  • StAR-Related Lipid Transfer (START) Domain Containing 3 3
  • Steroidogenic Acute Regulatory Protein Related 3
  • StAR-Related Lipid Transfer Protein 3 3
  • Metastatic Lymph Node Protein 64 3
  • START Domain Containing 3 2
  • Protein CAB1 4
  • StARD3 4
  • Es64 3

External Ids for STARD3 Gene

Previous GeneCards Identifiers for STARD3 Gene

  • GC17P037292
  • GC17P039791
  • GC17P037703
  • GC17P038168
  • GC17P035046
  • GC17P037793
  • GC17P033587

Summaries for STARD3 Gene

Entrez Gene Summary for STARD3 Gene

  • 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]

GeneCards Summary for STARD3 Gene

STARD3 (StAR Related Lipid Transfer Domain Containing 3) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism of steroid hormones. GO annotations related to this gene include lipid binding and cholesterol transporter activity. An important paralog of this gene is STARD3NL.

UniProtKB/Swiss-Prot for STARD3 Gene

  • Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:11053434, PubMed:15930133, PubMed:22514632, PubMed:28377464). Creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263, PubMed:28377464). Acts as a lipid transfer protein that redirects sterol to the endosome at the expense of the cell membrane and favors membrane formation inside endosomes (PubMed:28377464). May also mediate cholesterol transport between other membranes, such as mitochondria membrane or cell membrane (PubMed:12070139, PubMed:19965586). However, such results need additional experimental evidences; probably mainly mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:28377464). Does not activate transcriptional cholesterol sensing (PubMed:28377464). Able to bind other lipids, such as lutein, a xanthophyll carotenoids that form the macular pigment of the retina (PubMed:21322544).

Additional gene information for STARD3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STARD3 Gene

Genomics for STARD3 Gene

Regulatory Elements for STARD3 Gene

Enhancers for STARD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H039617 1.9 VISTA Ensembl ENCODE dbSUPER 15.4 -19.0 -18982 1 TBP PKNOX1 PTBP1 KLF17 GTF3C2 GLIS2 ZNF366 ZNF143 SMARCA5 SP3 CDK12 STARD3 SNORA21 LOC105371762 MED1 ENSG00000266208 PGAP3 MED24 GC17M039616 ENSG00000214546
GH17H039673 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 12.6 +40.6 40593 7 HDGF PKNOX1 ARID4B DMAP1 ZNF121 GLIS2 ATF7 SP3 SP5 MXD4 PGAP3 STARD3 NEUROD2 RAPGEFL1 ORMDL3 ERBB2 GRB7 GSDMB GC17P039685 PNMT
GH17H039658 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 12.5 +26.6 26626 10 HDGF MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 PGAP3 MSL1 STARD3 MED24 MED1 CDK12 LOC105371762 STAC2 FBXL20 TCAP
GH17H039635 1.4 ENCODE dbSUPER 18.7 +0.2 156 3 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF143 ZNF207 SP3 SP5 STARD3 LINC02079 MED24 PPP1R1B PGAP3 ORMDL3 TCAP
GH17H038823 1.2 ENCODE 20.7 -812.1 -812128 2 MLX ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A ZNF610 RCOR2 MED1 CDK12 SNORA21 LOC105371762 RPL23 STARD3 RPL19 PIP4K2B CWC25 PSMB3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STARD3 on UCSC Golden Path with GeneCards custom track

Promoters for STARD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000093957 335 1201 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF143 ZNF207 SP3

Transcription factor binding sites by QIAGEN in the STARD3 gene promoter:

Genomic Location for STARD3 Gene

Chromosome:
17
Start:
39,637,065 bp from pter
End:
39,664,201 bp from pter
Size:
27,137 bases
Orientation:
Plus strand

Genomic View for STARD3 Gene

Genes around STARD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STARD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STARD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STARD3 Gene

Proteins for STARD3 Gene

  • Protein details for STARD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14849-STAR3_HUMAN
    Recommended name:
    StAR-related lipid transfer protein 3
    Protein Accession:
    Q14849
    Secondary Accessions:
    • A8MXA4
    • B4DUY1
    • F5H0G2
    • Q53Y53
    • Q96HM9

    Protein attributes for STARD3 Gene

    Size:
    445 amino acids
    Molecular mass:
    50502 Da
    Quaternary structure:
    • Homodimer (PubMed:15718238, PubMed:16709157). Interacts (via the MENTAL domain) with STARD3NL (PubMed:15718238, PubMed:16709157). Interacts (via FFAT motif) with VAPA (PubMed:24105263, PubMed:28377464). Interacts (via FFAT motif) with VAPB (PubMed:24105263, PubMed:28377464).

    Three dimensional structures from OCA and Proteopedia for STARD3 Gene

    Alternative splice isoforms for STARD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STARD3 Gene

Post-translational modifications for STARD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for STARD3 Gene

Domains & Families for STARD3 Gene

Gene Families for STARD3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for STARD3 Gene

Graphical View of Domain Structure for InterPro Entry

Q14849

UniProtKB/Swiss-Prot:

STAR3_HUMAN :
  • The FFAT motif mediates interaction with VAPA and VAPB.
  • Belongs to the STARD3 family.
Domain:
  • The FFAT motif mediates interaction with VAPA and VAPB.
  • The START domain mediates lipid-transfer between membranes. It contains a hydrophobic cavity able to accommodate one lipid molecule, thereby serving as a hydrophobic bridge across the aqueous gap between donor and acceptor organelle membranes.
  • The MENTAL domain anchors the protein in endosome membranes and exposes the START domain in the cytosol (PubMed:11053434). It binds cholesterol and mediates homotypic as well as heterotypic interactions between STARD3 and STARD3NL (PubMed:15718238, PubMed:16709157).
Family:
  • Belongs to the STARD3 family.
genes like me logo Genes that share domains with STARD3: view

Function for STARD3 Gene

Molecular function for STARD3 Gene

UniProtKB/Swiss-Prot Function:
Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:11053434, PubMed:15930133, PubMed:22514632, PubMed:28377464). Creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263, PubMed:28377464). Acts as a lipid transfer protein that redirects sterol to the endosome at the expense of the cell membrane and favors membrane formation inside endosomes (PubMed:28377464). May also mediate cholesterol transport between other membranes, such as mitochondria membrane or cell membrane (PubMed:12070139, PubMed:19965586). However, such results need additional experimental evidences; probably mainly mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:28377464). Does not activate transcriptional cholesterol sensing (PubMed:28377464). Able to bind other lipids, such as lutein, a xanthophyll carotenoids that form the macular pigment of the retina (PubMed:21322544).
UniProtKB/Swiss-Prot Induction:
Not regulated by increases in total cholesterol content, or by marked alterations in cholesterol flux.

Phenotypes From GWAS Catalog for STARD3 Gene

Gene Ontology (GO) - Molecular Function for STARD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15718238
GO:0008289 lipid binding IEA --
GO:0015485 cholesterol binding IEA,IDA 12011453
GO:0017127 cholesterol transporter activity IEA --
GO:0042803 protein homodimerization activity IDA 15718238
genes like me logo Genes that share ontologies with STARD3: view
genes like me logo Genes that share phenotypes with STARD3: view

Animal Models for STARD3 Gene

MGI Knock Outs for STARD3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for STARD3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for STARD3 Gene

Localization for STARD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STARD3 Gene

Late endosome membrane; Multi-pass membrane protein. Note=Localizes to contact sites between the endoplasmic reticulum and late endosomes: associates with the endoplasmic reticulum membrane via interaction with VAPA and VAPB (PubMed:24105263). {ECO:0000269 PubMed:24105263}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STARD3 gene
Compartment Confidence
lysosome 5
endosome 5
cytosol 4
plasma membrane 3
mitochondrion 3
peroxisome 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for STARD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 9139840
GO:0005739 mitochondrion IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA --
genes like me logo Genes that share ontologies with STARD3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STARD3 Gene

Pathways & Interactions for STARD3 Gene

genes like me logo Genes that share pathways with STARD3: view

Gene Ontology (GO) - Biological Process for STARD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 7490069
GO:0006700 C21-steroid hormone biosynthetic process TAS --
GO:0006701 progesterone biosynthetic process IEA --
GO:0006810 transport IEA --
GO:0006839 mitochondrial transport TAS 9270027
genes like me logo Genes that share ontologies with STARD3: view

No data available for SIGNOR curated interactions for STARD3 Gene

Drugs & Compounds for STARD3 Gene

(2) Drugs for STARD3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for STARD3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with STARD3: view

Transcripts for STARD3 Gene

Unigene Clusters for STARD3 Gene

StAR-related lipid transfer (START) domain containing 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for STARD3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for STARD3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - -
SP7: - - - - -
SP8: - - - - - -
SP9: - - - - - - - - - - -
SP10: - - - - - - - - - - - - -
SP11: - - - - - - - - - -
SP12: - - - - - - -
SP13: - - - -
SP14: - - - - - - - - - - -
SP15: - - - - - -
SP16: - - - - - - - - -
SP17: - - - - - - - -
SP18:
SP19: - - - - - - -
SP20:
SP21:
SP22:
SP23: - - - - - -
SP24:

ExUns: 9a · 9b · 9c · 9d · 9e · 9f · 9g ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a ·
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7: - - - -
SP8: - -
SP9:
SP10:
SP11:
SP12: - - - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: -
SP19:
SP20:
SP21: -
SP22:
SP23:
SP24:

ExUns: 17b ^ 18
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:

Relevant External Links for STARD3 Gene

GeneLoc Exon Structure for
STARD3
ECgene alternative splicing isoforms for
STARD3

Expression for STARD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STARD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STARD3 Gene

This gene is overexpressed in Plasma (20.4), Lung (19.0), and Cervix (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for STARD3 Gene



Protein tissue co-expression partners for STARD3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STARD3 Gene:

STARD3

SOURCE GeneReport for Unigene cluster for STARD3 Gene:

Hs.728838

mRNA Expression by UniProt/SwissProt for STARD3 Gene:

Q14849-STAR3_HUMAN
Tissue specificity: Expressed in retina.

Evidence on tissue expression from TISSUES for STARD3 Gene

  • Lung(4.4)
  • Nervous system(4.4)
  • Intestine(4.3)
  • Skin(4.3)
  • Spleen(4.3)
  • Lymph node(2.3)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with STARD3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for STARD3 Gene

Orthologs for STARD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for STARD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STARD3 33 34
  • 98.58 (n)
dog
(Canis familiaris)
Mammalia STARD3 33 34
  • 91.57 (n)
cow
(Bos Taurus)
Mammalia STARD3 33 34
  • 90.86 (n)
mouse
(Mus musculus)
Mammalia Stard3 33 16 34
  • 88.39 (n)
rat
(Rattus norvegicus)
Mammalia Stard3 33
  • 88.31 (n)
oppossum
(Monodelphis domestica)
Mammalia STARD3 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STARD3 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves STARD3 33 34
  • 76.37 (n)
lizard
(Anolis carolinensis)
Reptilia STARD3 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stard3 33
  • 70.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68989 33
zebrafish
(Danio rerio)
Actinopterygii stard3 33 34
  • 67.82 (n)
mln64-pen 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007057 33
  • 49.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta Start1 33 34
  • 48.85 (n)
worm
(Caenorhabditis elegans)
Secernentea tag-340 34 33
  • 41.76 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToMany
Species where no ortholog for STARD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STARD3 Gene

ENSEMBL:
Gene Tree for STARD3 (if available)
TreeFam:
Gene Tree for STARD3 (if available)

Paralogs for STARD3 Gene

Paralogs for STARD3 Gene

Pseudogenes.org Pseudogenes for STARD3 Gene

genes like me logo Genes that share paralogs with STARD3: view

Variants for STARD3 Gene

Sequence variations from dbSNP and Humsavar for STARD3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs367543181 untested 39,635,654(+) GGGAG(A/C/T)GCCCA upstream-variant-2KB, reference, missense
rs1000039681 -- 39,644,840(+) ATGGG(C/T)GACAG intron-variant
rs1000053669 -- 39,636,700(+) CGGTG(A/G)TCAAC downstream-variant-500B, upstream-variant-2KB
rs1000112577 -- 39,658,138(+) TTAGG(G/T)GGAGA intron-variant
rs1000466803 -- 39,641,312(+) CTGTG(A/G)TAAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STARD3 Gene

Variant ID Type Subtype PubMed ID
dgv40n68 CNV loss 17160897
nsv1146669 OTHER inversion 26484159
nsv2047 CNV insertion 18451855
nsv457738 CNV loss 19166990
nsv473159 CNV novel sequence insertion 20440878
nsv516757 CNV loss 19592680
nsv521294 CNV loss 19592680
nsv528093 CNV loss 19592680
nsv574991 CNV loss 21841781
nsv574992 CNV loss 21841781

Variation tolerance for STARD3 Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.10; 96.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STARD3 Gene

Human Gene Mutation Database (HGMD)
STARD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STARD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STARD3 Gene

Disorders for STARD3 Gene

Relevant External Links for STARD3

Genetic Association Database (GAD)
STARD3
Human Genome Epidemiology (HuGE) Navigator
STARD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STARD3

No disorders were found for STARD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for STARD3 Gene

Publications for STARD3 Gene

  1. Modeling the structure of the StART domains of MLN64 and StAR proteins in complex with cholesterol. (PMID: 16990645) Murcia M … Roux B (Journal of lipid research 2006) 3 4 22 60
  2. MLN64 and MENTHO, two mediators of endosomal cholesterol transport. (PMID: 16709157) Alpy F … Tomasetto C (Biochemical Society transactions 2006) 3 4 22 60
  3. MLN64 is involved in actin-mediated dynamics of late endocytic organelles. (PMID: 15930133) Hölttä-Vuori M … Ikonen E (Molecular biology of the cell 2005) 3 4 22 60
  4. Functional characterization of the MENTAL domain. (PMID: 15718238) Alpy F … Tomasetto C (The Journal of biological chemistry 2005) 3 4 22 60
  5. MLN64 mediates mobilization of lysosomal cholesterol to steroidogenic mitochondria. (PMID: 12070139) Zhang M … Strauss JF (The Journal of biological chemistry 2002) 3 4 22 60

Products for STARD3 Gene

Sources for STARD3 Gene

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