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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.[provide... See more...
Aliases for STARD3 Gene
Aliases for STARD3 Gene
External Ids for STARD3 Gene
- HGNC: 17579
- Entrez Gene: 10948
- Ensembl: ENSG00000131748
- OMIM: 607048
- UniProtKB: Q14849
Previous GeneCards Identifiers for STARD3 Gene
- GC17P037292
- GC17P039791
- GC17P037703
- GC17P038168
- GC17P035046
- GC17P037793
- GC17P033587
Summaries 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. Diseases associated with STARD3 include C Syndrome and Breast Cancer. Among its related pathways are Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) and Metabolism of steroid hormones. Gene Ontology (GO) annotations related to this gene include lipid binding and cholesterol transporter activity. An important paralog of this gene is STARD3NL.
UniProtKB/Swiss-Prot Summary 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
- HGNC(17579)
- Entrez Gene(10948)
- Ensembl(ENSG00000131748)
- OMIM(607048)
- UniProtKB(Q14849)
- Open Targets Platform(ENSG00000131748)
- Search for STARD3 at DataMed
- Search for STARD3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STARD3 Gene
Genomics for STARD3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for STARD3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around STARD3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STARD3
- Top Transcription factor binding sites by QIAGEN in the STARD3 gene promoter:
-
- Oct-B1
- oct-B3
- Sp1
Genomic Locations for STARD3 Gene
Genomic Locations for STARD3 Gene
- chr17:39,637,080-39,664,201
- (GRCh38/hg38)
- Size:
- 27,122 bases
- Orientation:
- Plus strand
- chr17:37,793,318-37,820,454
- (GRCh37/hg19)
- 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:
-
- 17q11-q12 by HGNC
- 17q12 by Entrez Gene
- 17q12 by Ensembl
STARD3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for STARD3 Gene
Post-translational modifications for STARD3 Gene
Other Protein References for STARD3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for STARD3
- Novus Biologicals Antibodies for STARD3
-
Abcam antibodies for STARD3
- Invitrogen Antibodies for STARD3 (AFLGC-STARD3)
-
Boster Bio Antibodies for STARD3
-
Santa Cruz Biotechnology (SCBT) Antibodies for STARD3
Protein Products
-
OriGene Purified Proteins for STARD3
- Search Origene for MassSpec and Protein Over-expression Lysates for STARD3
- Origene Custom Protein Services for STARD3
-
Abcam proteins for STARD3
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
Protein Domains for STARD3 Gene
- InterPro:
- Blocks:
-
- Lipid-binding START
- Steroidogenic acute regulatory protein signature
- ProtoNet:
Suggested Antigen Peptide Sequences for STARD3 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ59424, highly similar to MLN 64 protein (A8MXA4_HUMAN)
- START domain-containing protein 3 (STAR3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q14849UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15718238 |
| GO:0008289 | lipid binding | IEA | -- |
| GO:0015485 | cholesterol binding | IDA | 12011453 |
| GO:0042803 | protein homodimerization activity | IDA | 15718238 |
| GO:0120020 | intermembrane cholesterol transfer activity | IEA | -- |
Phenotypes for STARD3 Gene
- MGI mutant phenotypes for STARD3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for STARD3:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased vaccinia virus (VACV) infection
- Increased G1 DNA content
- Increased gamma-H2AX phosphorylation
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- G0/1 arrest
- Increased homologous recombination repair frequency
Animal Models for STARD3 Gene
- MGI Knock Outs for STARD3:
-
- Stard3 Stard3<tm1Jfs>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for STARD3 - Select products 50% OFF >
- * STARD3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for STARD3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for STARD3
-
Santa Cruz Biotechnology (SCBT) CRISPR for STARD3
miRNA for STARD3 Gene
- miRTarBase miRNAs that target STARD3
-
- hsa-miR-6883-5p (MIRT489050)
- hsa-miR-6785-5p (MIRT489051)
- hsa-miR-4728-5p (MIRT489052)
- hsa-miR-149-3p (MIRT489053)
- hsa-miR-7106-5p (MIRT489054)
- hsa-miR-6797-5p (MIRT489055)
- hsa-miR-1249-5p (MIRT489056)
- hsa-miR-765 (MIRT489057)
- hsa-miR-766-5p (MIRT489058)
- hsa-miR-6133 (MIRT489059)
- hsa-miR-3194-5p (MIRT489060)
- hsa-miR-6130 (MIRT489061)
- hsa-miR-6129 (MIRT489062)
- hsa-miR-6127 (MIRT489063)
- hsa-miR-4510 (MIRT489064)
- hsa-miR-4419a (MIRT489065)
- hsa-miR-605-3p (MIRT489066)
- hsa-miR-4756-5p (MIRT489067)
- hsa-miR-4739 (MIRT489068)
- hsa-miR-1321 (MIRT489069)
- hsa-miR-940 (MIRT489070)
- hsa-miR-6808-5p (MIRT489071)
- hsa-miR-6893-5p (MIRT489072)
- hsa-miR-6876-5p (MIRT489073)
- hsa-miR-4476 (MIRT489074)
- hsa-miR-3714 (MIRT489075)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for STARD3
- Browse OriGene Inhibitory RNA Products For STARD3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STARD3
Clone Products
- Applied Biological Materials (abm): Clones for STARD3 - Select products 50% OFF >
- * STARD3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207114
- MR207114
- MR207114L3
- MR207114L4
- RC206802
- RC206802L1
- RC206802L2
- RC206802L3
- RC206802L4
- RC228343
- RC228343L3
- RC228343L4
- RC228357
- RC228357L3
- RC228357L4
- RG206802
- RG228343
- RG228357
- RR205175
- RR205175L3
- RR205175L4
- MR207114L3V
- MR207114L4V
- RC206802L1V
- RC206802L2V
- RC206802L3V
- RC206802L4V
- RC228343L3V
- RC228343L4V
- RC228357L3V
- RC228357L4V
- RR205175L3V
- RR205175L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for STARD3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for STARD3
Cell Line Products
-
Horizon Cell Lines for STARD3
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}.
| Compartment | Confidence |
|---|---|
| endosome | 5 |
| nucleus | 4 |
| cytosol | 4 |
| lysosome | 4 |
| plasma membrane | 3 |
| mitochondrion | 3 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| golgi apparatus | 1 |
- Vesicles (3)
- Endoplasmic reticulum (2)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | TAS | 9139840 |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005765 | lysosomal membrane | HDA | 17897319 |
Pathways & Interactions for STARD3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Metabolism of steroid hormones | ||
| 3 | Statin Pathway | ||
| 4 | Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) |
Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
-
|
|
Pathways by source for STARD3 Gene
4 Reactome pathways for STARD3 Gene
1 KEGG pathway for STARD3 Gene
1 GeneGo (Thomson Reuters) pathway for STARD3 Gene
- Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
Interacting Proteins for STARD3 Gene
Selected Interacting proteins:
Q14849-STAR3_HUMAN
ENSP00000337446
for STARD3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for STARD3
| 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:0006839 | mitochondrial transport | TAS | 9270027 |
| GO:0006869 | lipid transport | IEA | -- |
No data available for SIGNOR curated interactions for STARD3 Gene
Transcripts for STARD3 Gene
mRNA/cDNA for STARD3 Gene
- 3 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000336308 2770 nts (view in UCSC)
- ENST00000394250 1949 nts (view in UCSC)
- ENST00000443521 673 nts (view in UCSC)
- ENST00000460894 584 nts (view in UCSC)
- ENST00000471896 2129 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for STARD3 - Select products 50% OFF >
- * STARD3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for STARD3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for STARD3
-
Santa Cruz Biotechnology (SCBT) CRISPR for STARD3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for STARD3
- Browse OriGene Inhibitory RNA Products For STARD3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STARD3
Clone Products
- Applied Biological Materials (abm): Clones for STARD3 - Select products 50% OFF >
- * STARD3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207114
- MR207114
- MR207114L3
- MR207114L4
- RC206802
- RC206802L1
- RC206802L2
- RC206802L3
- RC206802L4
- RC228343
- RC228343L3
- RC228343L4
- RC228357
- RC228357L3
- RC228357L4
- RG206802
- RG228343
- RG228357
- RR205175
- RR205175L3
- RR205175L4
- MR207114L3V
- MR207114L4V
- RC206802L1V
- RC206802L2V
- RC206802L3V
- RC206802L4V
- RC228343L3V
- RC228343L4V
- RC228357L3V
- RC228357L4V
- RR205175L3V
- RR205175L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for STARD3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for STARD3
| 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
Expression for STARD3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
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, MaxQB, and MOPED for STARD3 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STARD3
SOURCE GeneReport for Unigene cluster for STARD3 Gene:
Hs.728838mRNA Expression by UniProt/SwissProt for STARD3 Gene:
Q14849-STAR3_HUMAN
Tissue specificity:
Expressed in retina.
Evidence on tissue expression from TISSUES for STARD3 Gene
- Nervous system(4.6)
- Skin(4.5)
- Intestine(4.5)
- Lung(4.4)
- Spleen(4.4)
- Adrenal gland(2.8)
- Lymph node(2.6)
- Blood(2.4)
- Eye(2.4)
- Liver(2.3)
- Kidney(2.2)
Primer Products
-
OriGene qPCR primer pairs for STARD3
-
OriGene qPCR primer pairs and template standards for STARD3
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | STARD3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | STARD3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | STARD3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Stard3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Stard3 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | STARD3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | STARD3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | STARD3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | STARD3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | stard3 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68989 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | stard3 30 31 |
|
OneToOne | |
| mln64-pen 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007057 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Start1 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | tag-340 30 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for STARD3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for STARD3: view image
Paralogs for STARD3 Gene
(2) SIMAP similar genes for STARD3 Gene using alignment to 11 proteins:
- STAR3_HUMAN
- C9J555_HUMAN
- J3KSH0_HUMAN
- J3KSL3_HUMAN
- J3KT87_HUMAN
- J3QLA7_HUMAN
- J3QLM1_HUMAN
- J3QLS1_HUMAN
- J3QRG8_HUMAN
- J3QRM3_HUMAN
- J3QS10_HUMAN
Pseudogenes.org Pseudogenes for STARD3 Gene
Variants for STARD3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STARD3 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs11556624 | - | p.Gly216Ala | |||
| rs1877031 | - | p.Arg117Gln |
| 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 |
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)
Additional Variant Information for STARD3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STARD3 Gene
Disorders for STARD3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| c syndrome |
|
|
| breast cancer |
|
Search STARD3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for STARD3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for STARD3 Gene
Publications for STARD3 Gene
- MLN64 and MENTHO, two mediators of endosomal cholesterol transport. (PMID: 16709157) Alpy F … Tomasetto C (Biochemical Society transactions 2006) 3 4 23
- 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 23
- 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 23
- Functional characterization of the MENTAL domain. (PMID: 15718238) Alpy F … Tomasetto C (The Journal of biological chemistry 2005) 3 4 23
- MLN64 mediates mobilization of lysosomal cholesterol to steroidogenic mitochondria. (PMID: 12070139) Zhang M … Strauss JF (The Journal of biological chemistry 2002) 3 4 23
ExternalLinks
Products for STARD3 Gene
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- MG207114
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- antibodies-online: Show 4 available STARD3 Antibodies ranked by validation data
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- Boster Bio Antibodies for STARD3
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Sources for STARD3 Gene
- (1) GeneCards
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