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    STARD6 StAR related lipid transfer domain containing 6 [ Homo sapiens (human) ]

    Gene ID: 147323, updated on 5-Mar-2024

    Summary

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    Official Symbol
    STARD6provided by HGNC
    Official Full Name
    StAR related lipid transfer domain containing 6provided by HGNC
    Primary source
    HGNC:HGNC:18066
    See related
    Ensembl:ENSG00000174448 MIM:607051; AllianceGenome:HGNC:18066
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]
    Expression
    Restricted expression toward testis (RPKM 7.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See STARD6 in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (54324492..54357858, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (54527570..54560938, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (51850862..51884228, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:51772851-51773736 Neighboring gene uncharacterized LOC124904306 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:51773737-51774623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9471 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:51779086-51779588 Neighboring gene uncharacterized LOC124904307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13348 Neighboring gene DNA polymerase iota Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:51835674-51836224 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:51884780-51885291 Neighboring gene chromosome 18 open reading frame 54 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:51912942-51913627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13350 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 2

    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. STARD6 on steroids: solution structure, multiple timescale backbone dynamics and ligand binding mechanism. Létourneau D, et al. Sci Rep, 2016 Jun 24. PMID 27340016, Free PMC Article
    2. Genetic association of STARD6 polymorphisms with Alzheimer's disease in a Korean population. Kim YJ, et al. J Neurol Sci, 2016 Jul 15. PMID 27288785
    3. The StarD4 subfamily of steroidogenic acute regulatory-related lipid transfer (START) domain proteins: new players in cholesterol metabolism. Calderon-Dominguez M, et al. Int J Biochem Cell Biol, 2014 Apr. PMID 24440759, Free PMC Article
    4. The cholesterol-regulated StarD4 gene encodes a StAR-related lipid transfer protein with two closely related homologues, StarD5 and StarD6. Soccio RE, et al. Proc Natl Acad Sci U S A, 2002 May 14. PMID 12011452, Free PMC Article
    5. 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, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. STARD6 binds specifically testosterone.
      Title: STARD6 on steroids: solution structure, multiple timescale backbone dynamics and ligand binding mechanism.
    2. Genetic association study results suggest that STARD6 is involved in the pathogenesis of Alzheimer's disease
      Title: Genetic association of STARD6 polymorphisms with Alzheimer's disease in a Korean population.
    3. Studies show the 3 steroidogenic acute regulatory-related lipid transfer (START) domain proteins StarD4, StarD5 and StarD6 have a similar lipid binding pocket specific for sterols (cholesterol in particular), but differing regulation and localization.
      Title: The StarD4 subfamily of steroidogenic acute regulatory-related lipid transfer (START) domain proteins: new players in cholesterol metabolism.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    stAR-related lipid transfer protein 6
    Names
    START domain containing 6
    START domain-containing protein 6
    StAR-related lipid transfer (START) domain containing 6

    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_001371101.1 → NP_001358030.1  stAR-related lipid transfer protein 6 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC093462, AF480305, HY005546
      Conserved Domains (1) summary
      cl14643
      Location:1 → 145
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

    2. NM_001371102.1 → NP_001358031.1  stAR-related lipid transfer protein 6 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC093462, AF480305, HY005546
      Conserved Domains (1) summary
      cl14643
      Location:1 → 145
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

    3. NM_001394379.1 → NP_001381308.1  stAR-related lipid transfer protein 6 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC093462
      Consensus CDS
      CCDS92463.1
      UniProtKB/TrEMBL
      A0A8I5QL07
      Related
      ENSP00000510350.1, ENST00000686109.1
      Conserved Domains (1) summary
      cd08904
      Location:1 → 215
      START_STARD6-like; Lipid-binding START domain of mammalian STARD6 and related proteins

    4. NM_139171.2 → NP_631910.1  stAR-related lipid transfer protein 6 isoform 1

      See identical proteins and their annotated locations for NP_631910.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer, protein-coding transcript.
      Source sequence(s)
      AC093462, AF480305, HY005546
      Consensus CDS
      CCDS11955.1
      UniProtKB/Swiss-Prot
      P59095
      Related
      ENSP00000310814.3, ENST00000307844.4
      Conserved Domains (1) summary
      cd08904
      Location:1 → 204
      START_STARD6-like; Lipid-binding START domain of mammalian STARD6 and related proteins

    RNA

    1. NR_138549.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC093462
      Related
      ENST00000689888.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      54324492..54357858 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437300.1 → XP_047293256.1  stAR-related lipid transfer protein 6 isoform X1

      UniProtKB/TrEMBL
      A0A8I5QL07

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      54527570..54560938 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318203.1 → XP_054174178.1  stAR-related lipid transfer protein 6 isoform X1

      UniProtKB/TrEMBL
      A0A8I5QL07
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P59095.1 GenPept UniProtKB/Swiss-Prot:P59095

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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