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

    Gene ID: 10948, updated on 27-Nov-2024

    Summary

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    Official Symbol
    STARD3provided by HGNC
    Official Full Name
    StAR related lipid transfer domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:17579
    See related
    Ensembl:ENSG00000131748 MIM:607048; AllianceGenome:HGNC:17579
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAB1; es64; MLN64
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 14.1), spleen (RPKM 13.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See STARD3 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39637144..39664201)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40500714..40527766)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37793397..37820454)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12099 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37787615-37788534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37788535-37789454 Neighboring gene uncharacterized LOC124903998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37791542-37792165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37810255-37810816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37814469-37815344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37822021-37822758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37822759-37823496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12101 Neighboring gene titin-cap Neighboring gene phenylethanolamine N-methyltransferase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molten globule structure and steroidogenic activity of N-218 MLN64 in human placental mitochondria. Tuckey RC, et al. Endocrinology, 2004 Apr. PMID 14715710
    2. Identification of StARD3 as a lutein-binding protein in the macula of the primate retina. Li B, et al. Biochemistry, 2011 Apr 5. PMID 21322544, Free PMC Article
    3. MLN64 mediates mobilization of lysosomal cholesterol to steroidogenic mitochondria. Zhang M, et al. J Biol Chem, 2002 Sep 6. PMID 12070139
    4. Insights into steroidogenic acute regulatory protein (StAR)-dependent cholesterol transfer in mitochondria: evidence from molecular modeling and structure-based thermodynamics supporting the existence of partially unfolded states of StAR. Mathieu AP, et al. J Mol Endocrinol, 2002 Dec. PMID 12459035
    5. Mitochondrial proteases act on STARD3 to activate progesterone synthesis in human syncytiotrophoblast. Esparza-Perusquía M, et al. Biochim Biophys Acta, 2015 Jan. PMID 25459514

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Metastatic Lymph Node 64 (MLN64) Expression in Gastric Cancer: The Clinical and Molecular Implications in Drug Resistance.
      Title: Metastatic Lymph Node 64 (MLN64) Expression in Gastric Cancer: The Clinical and Molecular Implications in Drug Resistance.
    2. Methionine sulfoxide reductases and cholesterol transporter STARD3 constitute an efficient system for detoxification of cholesterol hydroperoxides.
      Title: Methionine sulfoxide reductases and cholesterol transporter STARD3 constitute an efficient system for detoxification of cholesterol hydroperoxides.
    3. The ultrastructural function of MLN64 in the late endosome-mitochondria membrane contact sites in placental cells.
      Title: The ultrastructural function of MLN64 in the late endosome-mitochondria membrane contact sites in placental cells.
    4. Annexin A6 and NPC1 regulate LDL-inducible cell migration and distribution of focal adhesions.
      Title: Annexin A6 and NPC1 regulate LDL-inducible cell migration and distribution of focal adhesions.
    5. 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.
      Title: MLN64 induces mitochondrial dysfunction associated with increased mitochondrial cholesterol content.
    6. 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.
      Title: Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.
    7. Structure of the lutein-binding domain of human StARD3 at 1.74 A resolution and model of a complex with lutein has been presented.
      Title: Structure of the lutein-binding domain of human StARD3 at 1.74 Å resolution and model of a complex with lutein.
    8. Thus, STARD3 is a cholesterol transporter scaffolding endoplasmic reticulum-endosome contacts and modulating cellular cholesterol repartition by delivering cholesterol to endosomes.
      Title: STARD3 mediates endoplasmic reticulum-to-endosome cholesterol transport at membrane contact sites.
    9. STARD3 or STARD3NL-mediated ER-endosome contacts, which affect endosome dynamics, are believed to be involved in cholesterol transport
      Title: Touché! STARD3 and STARD3NL tether the ER to endosomes.
    10. Elevated StARD3 expression may contribute to breast cancer aggressiveness by increasing membrane cholesterol and enhancing oncogenic signaling.
      Title: 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.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41370

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cholesterol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cholesterol transfer activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cholesterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in progesterone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in steroid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle tethering to endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle tethering to endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    colocalizes_with endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum-endosome membrane contact site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum-endosome membrane contact site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in late endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in organelle membrane contact site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    stAR-related lipid transfer protein 3
    Names
    MLN 64
    START domain-containing protein 3
    StAR-related lipid transfer (START) domain containing 3
    metastatic lymph node gene 64 protein
    metastatic lymph node protein 64
    steroidogenic acute regulatory protein related

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001165937.2 → NP_001159409.1  stAR-related lipid transfer protein 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, which result in a restricted frameshift, compared to variant 1. The encoded isoform (2) is the same length as isoform 1.
      Source sequence(s)
      AC087491, AK300842, BC019286, DC367486
      Consensus CDS
      CCDS54117.1
      UniProtKB/Swiss-Prot
      Q14849
      Related
      ENSP00000439869.2, ENST00000544210.6
      Conserved Domains (2) summary
      cd08906
      Location:233 → 441
      START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins
      pfam10457
      Location:47 → 212
      MENTAL; Cholesterol-capturing domain

    2. NM_001165938.2 → NP_001159410.1  stAR-related lipid transfer protein 3 isoform 3

      See identical proteins and their annotated locations for NP_001159410.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AC087491, AK300176, BC019286
      Consensus CDS
      CCDS54118.1
      UniProtKB/Swiss-Prot
      Q14849
      Related
      ENSP00000377794.4, ENST00000394250.8
      Conserved Domains (2) summary
      cd08906
      Location:215 → 423
      START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins
      pfam10457
      Location:47 → 194
      MENTAL; Cholesterol-capturing domain

    3. NM_006804.4 → NP_006795.3  stAR-related lipid transfer protein 3 isoform 1

      See identical proteins and their annotated locations for NP_006795.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the predominant isoform (1).
      Source sequence(s)
      AC087491, BC008356
      Consensus CDS
      CCDS11341.1
      UniProtKB/Swiss-Prot
      A8MXA4, B4DUY1, F5H0G2, Q14849, Q53Y53, Q96HM9
      UniProtKB/TrEMBL
      J3QLM1
      Related
      ENSP00000337446.5, ENST00000336308.10
      Conserved Domains (2) summary
      cd08906
      Location:233 → 441
      START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins
      pfam10457
      Location:47 → 212
      MENTAL; Cholesterol-capturing domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      39637144..39664201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435162.1 → XP_047291118.1  stAR-related lipid transfer protein 3 isoform X1

    2. XM_047435165.1 → XP_047291121.1  stAR-related lipid transfer protein 3 isoform X3

      UniProtKB/Swiss-Prot
      A8MXA4, B4DUY1, F5H0G2, Q14849, Q53Y53, Q96HM9

    3. XM_047435159.1 → XP_047291115.1  stAR-related lipid transfer protein 3 isoform X1

      Related
      ENSP00000463613.1, ENST00000580611.5

    4. XM_047435164.1 → XP_047291120.1  stAR-related lipid transfer protein 3 isoform X2

    5. XM_047435166.1 → XP_047291122.1  stAR-related lipid transfer protein 3 isoform X4

    6. XM_047435168.1 → XP_047291124.1  stAR-related lipid transfer protein 3 isoform X5

    7. XM_047435170.1 → XP_047291126.1  stAR-related lipid transfer protein 3 isoform X7

      Related
      ENSP00000464472.1, ENST00000578577.5

    8. XM_047435171.1 → XP_047291127.1  stAR-related lipid transfer protein 3 isoform X8

    9. XM_047435169.1 → XP_047291125.1  stAR-related lipid transfer protein 3 isoform X6

    10. XM_047435163.1 → XP_047291119.1  stAR-related lipid transfer protein 3 isoform X1

    11. XM_047435160.1 → XP_047291116.1  stAR-related lipid transfer protein 3 isoform X1

    12. XM_017024041.3 → XP_016879530.1  stAR-related lipid transfer protein 3 isoform X3

      UniProtKB/Swiss-Prot
      A8MXA4, B4DUY1, F5H0G2, Q14849, Q53Y53, Q96HM9
      UniProtKB/TrEMBL
      J3QLM1
      Conserved Domains (2) summary
      cd08906
      Location:233 → 441
      START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins
      pfam10457
      Location:47 → 212
      MENTAL; Cholesterol-capturing domain

    13. XM_047435167.1 → XP_047291123.1  stAR-related lipid transfer protein 3 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40500714..40527766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314759.1 → XP_054170734.1  stAR-related lipid transfer protein 3 isoform X1

    2. XM_054314763.1 → XP_054170738.1  stAR-related lipid transfer protein 3 isoform X2

    3. XM_054314766.1 → XP_054170741.1  stAR-related lipid transfer protein 3 isoform X4

    4. XM_054314768.1 → XP_054170743.1  stAR-related lipid transfer protein 3 isoform X5

    5. XM_054314770.1 → XP_054170745.1  stAR-related lipid transfer protein 3 isoform X7

    6. XM_054314771.1 → XP_054170746.1  stAR-related lipid transfer protein 3 isoform X8

    7. XM_054314769.1 → XP_054170744.1  stAR-related lipid transfer protein 3 isoform X6

    8. XM_054314765.1 → XP_054170740.1  stAR-related lipid transfer protein 3 isoform X3

    9. XM_054314761.1 → XP_054170736.1  stAR-related lipid transfer protein 3 isoform X1

    10. XM_054314762.1 → XP_054170737.1  stAR-related lipid transfer protein 3 isoform X1

    11. XM_054314764.1 → XP_054170739.1  stAR-related lipid transfer protein 3 isoform X3

    12. XM_054314760.1 → XP_054170735.1  stAR-related lipid transfer protein 3 isoform X1

    13. XM_054314767.1 → XP_054170742.1  stAR-related lipid transfer protein 3 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14849.2 GenPept UniProtKB/Swiss-Prot:Q14849

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