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

    Gene ID: 147323, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See STARD6 in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (54324592..54358462, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (51851062..51880943, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene methyl-CpG binding domain protein 2 Neighboring gene small nucleolar RNA, H/ACA box 37 Neighboring gene DNA polymerase iota Neighboring gene chromosome 18 open reading frame 54 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 2 Neighboring gene dynactin associated protein

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Metabolism of steroid hormones, organism-specific biosystem (from REACTOME)
      Metabolism of steroid hormones, organism-specific biosystemSteroid hormones are synthesized primarily in the adrenal gland and gonads. They regulate energy metabolism and stress responses (glucocorticoids), salt balance (mineralocorticoids), and sexual devel...
    • Pregnenolone biosynthesis, organism-specific biosystem (from REACTOME)
      Pregnenolone biosynthesis, organism-specific biosystemThe first process in the synthesis of all steroid hormones is the synthesis of pregnenolone from cholesterol. In this process, cholesterol mobilized from cytosolic lipid droplets or from lysosomes is...

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

    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)

    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_139171.1NP_631910.1  stAR-related lipid transfer protein 6

      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)
      AF480305
      Consensus CDS
      CCDS11955.1
      UniProtKB/Swiss-Prot
      P59095
      Related
      ENSP00000310814.3, ENST00000307844.3
      Conserved Domains (1) summary
      cd08904
      Location:1204
      START_STARD6-like; Lipid-binding START domain of mammalian STARD6 and related proteins

    RNA

    1. NR_138549.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction and lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC093462

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      54324592..54358462 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025552.2XP_016881041.1  stAR-related lipid transfer protein 6 isoform X1

    2. XM_011525821.2XP_011524123.1  stAR-related lipid transfer protein 6 isoform X2

      See identical proteins and their annotated locations for XP_011524123.1

      UniProtKB/Swiss-Prot
      P59095
      Related
      ENSP00000462349.1, ENST00000581310.5
      Conserved Domains (1) summary
      cd08904
      Location:1204
      START_STARD6-like; Lipid-binding START domain of mammalian STARD6 and related proteins
    3. XM_017025553.1XP_016881042.1  stAR-related lipid transfer protein 6 isoform X1

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