LOCUS       NM_139171               1018 bp    mRNA    linear   PRI 05-AUG-2024
DEFINITION  Homo sapiens StAR related lipid transfer domain containing 6
            (STARD6), transcript variant 1, mRNA.
ACCESSION   NM_139171 XM_011525821
VERSION     NM_139171.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1018)
  AUTHORS   Yahya,N.A., King,S.R., Shi,B., Shaaban,A., Whitfield,N.E., Yan,C.,
            Kordus,R.J., Whitman-Elia,G.F. and LaVoie,H.A.
  TITLE     Differential regulation of STARD1, STARD4 and STARD6 in the human
            ovary
  JOURNAL   J Endocrinol 262 (2), e230385 (2024)
   PUBMED   38829257
  REMARK    GeneRIF: Differential regulation of STARD1, STARD4 and STARD6 in
            the human ovary.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1018)
  AUTHORS   Kim,Y.J., Paik,J.W., Kang,W.S., Kim,S.K., Lee,K.J., Na,H.R.,
            Park,H.J., Kim,J.W., Lim,H.K. and Park,J.K.
  TITLE     Genetic association of STARD6 polymorphisms with Alzheimer's
            disease in a Korean population
  JOURNAL   J Neurol Sci 366, 100-101 (2016)
   PUBMED   27288785
  REMARK    GeneRIF: Genetic association study results suggest that STARD6 is
            involved in the pathogenesis of Alzheimer's disease
REFERENCE   3  (bases 1 to 1018)
  AUTHORS   Letourneau,D., Bedard,M., Cabana,J., Lefebvre,A., LeHoux,J.G. and
            Lavigne,P.
  TITLE     STARD6 on steroids: solution structure, multiple timescale backbone
            dynamics and ligand binding mechanism
  JOURNAL   Sci Rep 6, 28486 (2016)
   PUBMED   27340016
  REMARK    GeneRIF: STARD6 binds specifically testosterone.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1018)
  AUTHORS   Calderon-Dominguez,M., Gil,G., Medina,M.A., Pandak,W.M. and
            Rodriguez-Agudo,D.
  TITLE     The StarD4 subfamily of steroidogenic acute regulatory-related
            lipid transfer (START) domain proteins: new players in cholesterol
            metabolism
  JOURNAL   Int J Biochem Cell Biol 49, 64-68 (2014)
   PUBMED   24440759
  REMARK    GeneRIF: 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.
            Review article
REFERENCE   5  (bases 1 to 1018)
  AUTHORS   Soccio,R.E., Adams,R.M., Romanowski,M.J., Sehayek,E., Burley,S.K.
            and Breslow,J.L.
  TITLE     The cholesterol-regulated StarD4 gene encodes a StAR-related lipid
            transfer protein with two closely related homologues, StarD5 and
            StarD6
  JOURNAL   Proc Natl Acad Sci U S A 99 (10), 6943-6948 (2002)
   PUBMED   12011452
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093462.11, HY005546.1 and AF480305.1.
            
            On or before Jun 27, 2019 this sequence version replaced
            XM_011525821.2, NM_139171.1.
            
            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].
            
            Transcript Variant: This variant (1) represents the longer,
            protein-coding transcript.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            CDS exon combination :: AF480305.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000307844.4/ ENSP00000310814.3
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AC093462.11        10501-10506
            7-155               HY005546.1         1-149
            156-818             AF480305.1         1-663
            819-1018            AC093462.11        43668-43867
FEATURES             Location/Qualifiers
     source          1..1018
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.2"
     gene            1..1018
                     /gene="STARD6"
                     /note="StAR related lipid transfer domain containing 6"
                     /db_xref="GeneID:147323"
                     /db_xref="HGNC:HGNC:18066"
                     /db_xref="MIM:607051"
     exon            1..67
                     /gene="STARD6"
                     /inference="alignment:Splign:2.1.0"
     exon            68..151
                     /gene="STARD6"
                     /inference="alignment:Splign:2.1.0"
     exon            152..245
                     /gene="STARD6"
                     /inference="alignment:Splign:2.1.0"
     CDS             156..818
                     /gene="STARD6"
                     /note="isoform 1 is encoded by transcript variant 1; START
                     domain containing 6; stAR-related lipid transfer protein
                     6; START domain-containing protein 6; StAR-related lipid
                     transfer (START) domain containing 6"
                     /codon_start=1
                     /product="stAR-related lipid transfer protein 6 isoform 1"
                     /protein_id="NP_631910.1"
                     /db_xref="CCDS:CCDS11955.1"
                     /db_xref="GeneID:147323"
                     /db_xref="HGNC:HGNC:18066"
                     /db_xref="MIM:607051"
                     /translation="MDFKAIAQQTAQEVLGYNRDTSGWKVVKTSKKITVSSKASRKFH
                     GNLYRVEGIIPESPAKLSDFLYQTGDRITWDKSLQVYNMVHRIDSDTFICHTITQSFA
                     VGSISPRDFIDLVYIKRYEGNMNIISSKSVDFPEYPPSSNYIRGYNHPCGFVCSPMEE
                     NPAYSKLVMFVQTEMRGKLSPSIIEKTMPSNLVNFILNAKDGIKAHRTPSRRGFHHNS
                     HS"
     exon            246..295
                     /gene="STARD6"
                     /inference="alignment:Splign:2.1.0"
     exon            296..422
                     /gene="STARD6"
                     /inference="alignment:Splign:2.1.0"
     exon            423..540
                     /gene="STARD6"
                     /inference="alignment:Splign:2.1.0"
     exon            541..634
                     /gene="STARD6"
                     /inference="alignment:Splign:2.1.0"
     exon            635..1018
                     /gene="STARD6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      964..969
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STARD6"
                     /note="hexamer: AATAAG"
     polyA_site      989
                     /gene="STARD6"
     regulatory      996..1001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STARD6"
                     /note="hexamer: ATTAAA"
     polyA_site      1018
                     /gene="STARD6"
                     /note="major polyA site"
ORIGIN      
        1 ggagatgagg gagcggccgg agaagagagg atgctgttga gcgttaggtc gcgacccctg
       61 ctggaaggtt aagagatatg gagatttcca caaggatttg gagaggagcc ccagtagtta
      121 ctaaaattct gcattagatc tgtcaggaaa gatagatgga cttcaaggca attgcccaac
      181 aaactgccca agaagtttta ggttataatc gagatacatc aggctggaaa gtggttaaaa
      241 cttcaaaaaa gataactgtt tccagtaagg cttctagaaa attccatgga aatctatatc
      301 gtgttgaagg gataattcca gaatcaccag ctaaactatc tgatttcctc taccaaactg
      361 gagacagaat tacatgggat aaatcattgc aagtgtataa tatggtacac aggattgatt
      421 cggacacatt catatgtcat accattacac aaagttttgc cgtgggctcc atttcccctc
      481 gagactttat cgacttagtg tacatcaagc gctacgaagg aaatatgaac attatcagtt
      541 ctaaaagtgt ggattttcca gaatatcctc catcttcaaa ttatatccgc ggttataacc
      601 atccttgtgg ctttgtatgt tcaccaatgg aagaaaaccc agcatattcc aaactagtga
      661 tgtttgtcca gacagaaatg agaggaaaat tgtccccatc aataattgaa aaaaccatgc
      721 cttccaactt agtaaacttc atcctcaatg caaaagatgg aataaaggca cacagaactc
      781 catcaagacg tggatttcat cataatagtc attcatgata ccaaaagaag aaatgaggcc
      841 gttctgctat aaaatcatgt gtagtagtta ttgctgttta cttctaagtc aacgcacata
      901 aataatactg ttaaactatt ctagacagta ttcttgtaca catggctgaa gatagttcat
      961 aaaaataaga actcatagtt gtacaagaat atggcattaa ataccgtttt taatctca
//
