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    STARD3 StAR related lipid transfer domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 10948, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Metastatic Lymph Node 64 (MLN64) Expression in Gastric Cancer: The Clinical and Molecular Implications in Drug Resistance.

    Metastatic Lymph Node 64 (MLN64) Expression in Gastric Cancer: The Clinical and Molecular Implications in Drug Resistance.
    Li AX, Zeng JJ, Khan E, Dou QP, Zhuang X, Ji EK, Ruge F, Martin TA, Jia S, Jiang WG., Free PMC Article

    01/5/2024
    Methionine sulfoxide reductases and cholesterol transporter STARD3 constitute an efficient system for detoxification of cholesterol hydroperoxides.

    Methionine sulfoxide reductases and cholesterol transporter STARD3 constitute an efficient system for detoxification of cholesterol hydroperoxides.
    Lim JM, Sabbasani VR, Swenson RE, Levine RL., Free PMC Article

    11/1/2023
    The ultrastructural function of MLN64 in the late endosome-mitochondria membrane contact sites in placental cells.

    The ultrastructural function of MLN64 in the late endosome-mitochondria membrane contact sites in placental cells.
    Nara A, Inoue A, Aoyama Y, Yazawa T.

    07/3/2023
    Annexin A6 and NPC1 regulate LDL-inducible cell migration and distribution of focal adhesions.

    Annexin A6 and NPC1 regulate LDL-inducible cell migration and distribution of focal adhesions.
    Jose J, Hoque M, Engel J, Beevi SS, Wahba M, Georgieva MI, Murphy KJ, Hughes WE, Cochran BJ, Lu A, Tebar F, Hoy AJ, Timpson P, Rye KA, Enrich C, Rentero C, Grewal T., Free PMC Article

    03/5/2022
    Findings suggest that MLN64 overexpression induces an increase in mitochondrial cholesterol content and consequently a decrease in mitochondrial GSH content leading to mitochondrial dysfunction. In addition, MLN64 expression is increased in Niemann-Pick C1 deficient cells and plays a key role in cholesterol transport into the mitochondria.

    MLN64 induces mitochondrial dysfunction associated with increased mitochondrial cholesterol content.
    Balboa E, Castro J, Pinochet MJ, Cancino GI, Matías N, Sáez PJ, Martínez A, Álvarez AR, Garcia-Ruiz C, Fernandez-Checa JC, Zanlungo S., Free PMC Article

    03/24/2018
    Study present a rare case of a 46,XY patient with CHD associated with ambiguous genitalia consisting of a clitoris-like phallus and a bifid scrotum. Exome sequencing revealed novel homozygous mutations in the FGFR1 and STARD3 genes that may be associated with the phenotype.

    Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.
    Mazen I, Amin H, Kamel A, El Ruby M, Bignon-Topalovic J, Bashamboo A, McElreavey K.

    11/26/2017
    Structure of the lutein-binding domain of human StARD3 at 1.74 A resolution and model of a complex with lutein has been presented.

    Structure of the lutein-binding domain of human StARD3 at 1.74 Å resolution and model of a complex with lutein.
    Horvath MP, George EW, Tran QT, Baumgardner K, Zharov G, Lee S, Sharifzadeh H, Shihab S, Mattinson T, Li B, Bernstein PS., Free PMC Article

    11/25/2017
    Thus, STARD3 is a cholesterol transporter scaffolding endoplasmic reticulum-endosome contacts and modulating cellular cholesterol repartition by delivering cholesterol to endosomes.

    STARD3 mediates endoplasmic reticulum-to-endosome cholesterol transport at membrane contact sites.
    Wilhelm LP, Wendling C, Védie B, Kobayashi T, Chenard MP, Tomasetto C, Drin G, Alpy F., Free PMC Article

    07/15/2017
    STARD3 or STARD3NL-mediated ER-endosome contacts, which affect endosome dynamics, are believed to be involved in cholesterol transport

    Touché! STARD3 and STARD3NL tether the ER to endosomes.
    Wilhelm LP, Tomasetto C, Alpy F.

    12/31/2016
    Elevated StARD3 expression may contribute to breast cancer aggressiveness by increasing membrane cholesterol and enhancing oncogenic signaling.

    Elevated levels of StAR-related lipid transfer protein 3 alter cholesterol balance and adhesiveness of breast cancer cells: potential mechanisms contributing to progression of HER2-positive breast cancers.
    Vassilev B, Sihto H, Li S, Hölttä-Vuori M, Ilola J, Lundin J, Isola J, Kellokumpu-Lehtinen PL, Joensuu H, Ikonen E.

    12/12/2015
    Data indicate that mitochondrial proteolytic activation of START domain-containing protein 3 (STARD3) enhances steroidogenesis.

    Mitochondrial proteases act on STARD3 to activate progesterone synthesis in human syncytiotrophoblast.
    Esparza-Perusquía M, Olvera-Sánchez S, Flores-Herrera O, Flores-Herrera H, Guevara-Flores A, Pardo JP, Espinosa-García MT, Martínez F.

    02/21/2015
    Findings show that PPP1R1B-STARD3 fusion transcript has a key role in subsets of gastric cancers through the activation of PI3K/AKT signaling.

    PPP1R1B-STARD3 chimeric fusion transcript in human gastric cancer promotes tumorigenesis through activation of PI3K/AKT signaling.
    Yun SM, Yoon K, Lee S, Kim E, Kong SH, Choe J, Kang JM, Han TS, Kim P, Choi Y, Jho S, Yoo H, Bhak J, Yang HK, Kim SJ.

    01/31/2015
    STARD3 or STARD3NL and VAP form a novel molecular tether between late endosomes and the endoplasmic reticulum.

    STARD3 or STARD3NL and VAP form a novel molecular tether between late endosomes and the ER.
    Alpy F, Rousseau A, Schwab Y, Legueux F, Stoll I, Wendling C, Spiegelhalter C, Kessler P, Mathelin C, Rio MC, Levine TP, Tomasetto C.

    08/9/2014
    Haplotype analysis indicated that combined effect of STARD3 variants (rs9972882, rs881844, rs11869286 and rs1877031) might affect the risk of GC.

    Association analysis of ERBB2 amplicon genetic polymorphisms and STARD3 expression with risk of gastric cancer in the Chinese population.
    Qiu Y, Zhang ZY, Du WD, Ye L, Xu S, Zuo XB, Zhou FS, Chen G, Ma XL, Schneider ME, Xia HZ, Zhou Y, Wu JF, Yuan-Hong X, Zhang XJ.

    03/15/2014
    With saturating MLN64, steroidogenesis by placental mitochondria proceeds at near-maximal rate.

    Molten globule structure and steroidogenic activity of N-218 MLN64 in human placental mitochondria.
    Tuckey RC, Bose HS, Czerwionka I, Miller WL.

    09/20/2011
    data indicate that StARD3 is the primary lutein-binding protein in macula lutea; recombinant StARD3 selectively binds lutein with high affinity

    Identification of StARD3 as a lutein-binding protein in the macula of the primate retina.
    Li B, Vachali P, Frederick JM, Bernstein PS., Free PMC Article

    06/4/2011
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    09/15/2010
    a transport pathway for endosomal cholesterol to mitochondria that requires MLN64, but not NPC1

    MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein.
    Charman M, Kennedy BE, Osborne N, Karten B., Free PMC Article

    07/12/2010
    FAK contributed to the increased adhesion in MDA-MB-231DeltaMLN64 cells.

    Expression of MLN64 influences cellular matrix adhesion of breast cancer cells, the role for focal adhesion kinase.
    Cai W, Ye L, Sun J, Mansel RE, Jiang WG.

    05/31/2010
    Differential regulation of STARD1 and D3 reflects their distinct roles in macrophage cholesterol metabolism, and may inform anti-atherogenic strategies.

    Differential regulation of the STARD1 subfamily of START lipid trafficking proteins in human macrophages.
    Borthwick F, Taylor JM, Bartholomew C, Graham A.

    01/21/2010
    provide evidence for differential cholesterol binding of the two most closely related START domain proteins STARD1 and STARD3

    Cholesterol interaction with the related steroidogenic acute regulatory lipid-transfer (START) domains of StAR (STARD1) and MLN64 (STARD3).
    Reitz J, Gehrig-Burger K, Strauss JF 3rd, Gimpl G.

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (3) articles

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium.

    Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
    Mavaddat N, Dunning AM, Ponder BA, Easton DF, Pharoah PD.

    HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.
    Benusiglio PR, Pharoah PD, Smith PL, Lesueur F, Conroy D, Luben RN, Dew G, Jordan C, Dunning A, Easton DF, Ponder BA.

    09/29/2009
    local sterol enrichment by MLN64 in the late endosomal membranes facilitates their association with actin, thereby governing actin-dependent fusion and degradative activity of late endocytic organelles

    MLN64 is involved in actin-mediated dynamics of late endocytic organelles.
    Hölttä-Vuori M, Alpy F, Tanhuanpää K, Jokitalo E, Mutka AL, Ikonen E., Free PMC Article

    01/21/2010
    In this review, MLN64 defines discrete cholesterol-containing subdomains within the membrane of late endosomes where they may function in cholesterol transport.

    MLN64 and MENTHO, two mediators of endosomal cholesterol transport.
    Alpy F, Tomasetto C.

    01/21/2010
    The MENTAL (MLN64 amino-terminal shared with MENTHO) domain might serve to maintain cholesterol at the membrane of late endosomes prior to its shuttle to cytoplasmic acceptor(s).

    Functional characterization of the MENTAL domain.
    Alpy F, Latchumanan VK, Kedinger V, Janoshazi A, Thiele C, Wendling C, Rio MC, Tomasetto C.

    01/21/2010
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