STARD3 (START domain containing 3)

2000-03-01   Marie-Christine Rio  

I.G.B.M.C, 1, rue Laurent FRIES, BP 163 67404 ILLKIRH, France

Identity

HGNC
STARD3
LOCATION
17q12
LOCUSID
10948
ALIAS
CAB1,MLN64,es64
FUSION GENES
Show Gene Fusions

DNA/RNA

Transcription

cDNA: 2.1 kb; coding sequence: 1335 bp

Proteins

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

Article Bibliography

Pubmed IDLast YearTitleAuthors
92700271997Isolation of a candidate gene, CAB1, for cholesterol transport to mitochondria from the c-ERBB-2 amplicon by a modified cDNA selection method.Akiyama N et al
87521521996Two distinct amplified regions at 17q11-q21 involved in human primary breast cancer.Bièche I et al
91398401997MLN64 exhibits homology with the steroidogenic acute regulatory protein (STAR) and is over-expressed in human breast carcinomas.Moog-Lutz C et al
74900691995Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17.Tomasetto C et al
92379991997MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis.Watari H et al

Other Information

Locus ID:

NCBI: 10948
MIM: 607048
HGNC: 17579
Ensembl: ENSG00000131748

Variants:

dbSNP: 10948
ClinVar: 10948
TCGA: ENSG00000131748
COSMIC: STARD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131748ENST00000336308Q14849
ENSG00000131748ENST00000394250Q14849
ENSG00000131748ENST00000443521C9J555
ENSG00000131748ENST00000544210Q14849
ENSG00000131748ENST00000577248J3QLA7
ENSG00000131748ENST00000578577J3QS10
ENSG00000131748ENST00000579479J3KSH0
ENSG00000131748ENST00000580331J3KSL3
ENSG00000131748ENST00000580611J3QLM1
ENSG00000131748ENST00000581894J3KT87
ENSG00000131748ENST00000583419J3QLS1
ENSG00000131748ENST00000583718J3QRG8
ENSG00000131748ENST00000583884J3QRM3

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Pregnenolone biosynthesisREACTOMER-HSA-196108

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381512892024Metastatic Lymph Node 64 (MLN64) Expression in Gastric Cancer: The Clinical and Molecular Implications in Drug Resistance.0
381512892024Metastatic Lymph Node 64 (MLN64) Expression in Gastric Cancer: The Clinical and Molecular Implications in Drug Resistance.0
372455822023The ultrastructural function of MLN64 in the late endosome-mitochondria membrane contact sites in placental cells.1
375070142023Methionine sulfoxide reductases and cholesterol transporter STARD3 constitute an efficient system for detoxification of cholesterol hydroperoxides.1
372455822023The ultrastructural function of MLN64 in the late endosome-mitochondria membrane contact sites in placental cells.1
375070142023Methionine sulfoxide reductases and cholesterol transporter STARD3 constitute an efficient system for detoxification of cholesterol hydroperoxides.1
350224652022Annexin A6 and NPC1 regulate LDL-inducible cell migration and distribution of focal adhesions.7
350224652022Annexin A6 and NPC1 regulate LDL-inducible cell migration and distribution of focal adhesions.7
282826152017MLN64 induces mitochondrial dysfunction associated with increased mitochondrial cholesterol content.30
283774642017STARD3 mediates endoplasmic reticulum-to-endosome cholesterol transport at membrane contact sites.115
282826152017MLN64 induces mitochondrial dysfunction associated with increased mitochondrial cholesterol content.30
283774642017STARD3 mediates endoplasmic reticulum-to-endosome cholesterol transport at membrane contact sites.115
270550922016Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.3
270689602016Touché! STARD3 and STARD3NL tether the ER to endosomes.12
274879252016Structure of the lutein-binding domain of human StARD3 at 1.74 Å resolution and model of a complex with lutein.23

Citation

Marie-Christine Rio

STARD3 (START domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2000-03-01

Online version: http://atlasgeneticsoncology.org/gene/202