STARD3 (START domain containing 3)

2000-03-01 Marie-Christine Rio Affiliation

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

Bibliography

Pubmed ID	Last Year	Title	Authors

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000131748	ENST00000336308	Q14849
ENSG00000131748	ENST00000394250	Q14849
ENSG00000131748	ENST00000443521	C9J555
ENSG00000131748	ENST00000544210	Q14849
ENSG00000131748	ENST00000577248	J3QLA7
ENSG00000131748	ENST00000578577	J3QS10
ENSG00000131748	ENST00000579479	J3KSH0
ENSG00000131748	ENST00000580331	J3KSL3
ENSG00000131748	ENST00000580611	J3QLM1
ENSG00000131748	ENST00000581894	J3KT87
ENSG00000131748	ENST00000583419	J3QLS1
ENSG00000131748	ENST00000583718	J3QRG8
ENSG00000131748	ENST00000583884	J3QRM3

Expression (GTEx)

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

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Metabolism of steroid hormones	REACTOME	R-HSA-196071
Pregnenolone biosynthesis	REACTOME	R-HSA-196108

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
24105263	2013	STARD3 or STARD3NL and VAP form a novel molecular tether between late endosomes and the ER.	69
21322544	2011	Identification of StARD3 as a lutein-binding protein in the macula of the primate retina.	57
19965586	2010	MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein.	47
28377464	2017	STARD3 mediates endoplasmic reticulum-to-endosome cholesterol transport at membrane contact sites.	41
12070139	2002	MLN64 mediates mobilization of lysosomal cholesterol to steroidogenic mitochondria.	33
16990645	2006	Modeling the structure of the StART domains of MLN64 and StAR proteins in complex with cholesterol.	24
19124506	2009	Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.	22
16709157	2006	MLN64 and MENTHO, two mediators of endosomal cholesterol transport.	19
15930133	2005	MLN64 is involved in actin-mediated dynamics of late endocytic organelles.	18

Citation

Marie-Christine Rio

STARD3 (START domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2000-03-01

Online version: http://atlasgeneticsoncology.org/gene/202/stard3