LOCUS       NM_000349               2565 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens steroidogenic acute regulatory protein (STAR), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_000349
VERSION     NM_000349.3
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 2565)
  AUTHORS   Manna,P.R., Molehin,D., Ahmed,A.U., Yang,S. and Reddy,P.H.
  TITLE     Acetylation of Steroidogenic Acute Regulatory Protein Sensitizes
            17beta-Estradiol Regulation in Hormone-Sensitive Breast Cancer
            Cells
  JOURNAL   Int J Mol Sci 25 (16), 8732 (2024)
   PUBMED   39201419
  REMARK    GeneRIF: Acetylation of Steroidogenic Acute Regulatory Protein
            Sensitizes 17beta-Estradiol Regulation in Hormone-Sensitive Breast
            Cancer Cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2565)
  AUTHORS   Altinkilic,E.M., Augsburger,P., Pandey,A.V. and Fluck,C.E.
  TITLE     Clinical spectrum of human STAR variants and their
            genotype-phenotype correlation
  JOURNAL   J Endocrinol 262 (3), e240078 (2024)
   PUBMED   38913505
  REMARK    GeneRIF: Clinical spectrum of human STAR variants and their
            genotype-phenotype correlation.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2565)
  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   4  (bases 1 to 2565)
  AUTHORS   Phadte,A., Dhole,C., Hegishte,S., Sarathi,V., Lila,A., Gada,J.V.,
            Memon,S.S., Arya,S., Karlekar,M., Patil,V., Varthakavi,P.K.,
            Shah,N., Bhagwat,N.M. and Bandgar,T.
  TITLE     Steroidogenic acute regulatory protein (STAR) deficiency: Our
            experience and systematic review for phenotype-genotype correlation
  JOURNAL   Clin Endocrinol (Oxf) 100 (5), 431-440 (2024)
   PUBMED   38368602
  REMARK    GeneRIF: Steroidogenic acute regulatory protein (STAR) deficiency:
            Our experience and systematic review for phenotype-genotype
            correlation.
REFERENCE   5  (bases 1 to 2565)
  AUTHORS   Liu,B., Fu,B., Zhou,S., Wang,H., Bi,B., Guo,M., Cheng,J.C. and
            Fang,L.
  TITLE     Bone morphogenetic protein-9 downregulates StAR expression by
            inducing snail expression via SMAD1/5/8 signaling in human
            granulosa-lutein cells
  JOURNAL   Mol Cell Endocrinol 582, 112126 (2024)
   PUBMED   38109991
  REMARK    GeneRIF: Bone morphogenetic protein-9 downregulates StAR expression
            by inducing snail expression via SMAD1/5/8 signaling in human
            granulosa-lutein cells.
REFERENCE   6  (bases 1 to 2565)
  AUTHORS   Arakane,F., Sugawara,T., Nishino,H., Liu,Z., Holt,J.A., Pain,D.,
            Stocco,D.M., Miller,W.L. and Strauss,J.F. 3rd.
  TITLE     Steroidogenic acute regulatory protein (StAR) retains activity in
            the absence of its mitochondrial import sequence: implications for
            the mechanism of StAR action
  JOURNAL   Proc Natl Acad Sci U S A 93 (24), 13731-13736 (1996)
   PUBMED   8943003
REFERENCE   7  (bases 1 to 2565)
  AUTHORS   Tee,M.K., Lin,D., Sugawara,T., Holt,J.A., Guiguen,Y.,
            Buckingham,B., Strauss,J.F. 3rd and Miller,W.L.
  TITLE     T-->A transversion 11 bp from a splice acceptor site in the human
            gene for steroidogenic acute regulatory protein causes congenital
            lipoid adrenal hyperplasia
  JOURNAL   Hum Mol Genet 4 (12), 2299-2305 (1995)
   PUBMED   8634702
REFERENCE   8  (bases 1 to 2565)
  AUTHORS   Gradi,A., Tang-Wai,R., McBride,H.M., Chu,L.L., Shore,G.C. and
            Pelletier,J.
  TITLE     The human steroidogenic acute regulatory (StAR) gene is expressed
            in the urogenital system and encodes a mitochondrial polypeptide
  JOURNAL   Biochim Biophys Acta 1258 (3), 228-233 (1995)
   PUBMED   7548191
REFERENCE   9  (bases 1 to 2565)
  AUTHORS   Sugawara,T., Lin,D., Holt,J.A., Martin,K.O., Javitt,N.B.,
            Miller,W.L. and Strauss,J.F. 3rd.
  TITLE     Structure of the human steroidogenic acute regulatory protein
            (StAR) gene: StAR stimulates mitochondrial cholesterol
            27-hydroxylase activity
  JOURNAL   Biochemistry 34 (39), 12506-12512 (1995)
   PUBMED   7547998
REFERENCE   10 (bases 1 to 2565)
  AUTHORS   Sugawara,T., Holt,J.A., Driscoll,D., Strauss,J.F. 3rd, Lin,D.,
            Miller,W.L., Patterson,D., Clancy,K.P., Hart,I.M., Clark,B.J. et
            al.
  TITLE     Human steroidogenic acute regulatory protein: functional activity
            in COS-1 cells, tissue-specific expression, and mapping of the
            structural gene to 8p11.2 and a pseudogene to chromosome 13
  JOURNAL   Proc Natl Acad Sci U S A 92 (11), 4778-4782 (1995)
   PUBMED   7761400
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL526126.3, U17280.1,
            BC010550.1, AV706872.1, AV707696.1, AC084024.17 and AV706111.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000349.2.
            
            Summary: The protein encoded by this gene plays a key role in the
            acute regulation of steroid hormone synthesis by enhancing the
            conversion of cholesterol into pregnenolone. This protein permits
            the cleavage of cholesterol into pregnenolone by mediating the
            transport of cholesterol from the outer mitochondrial membrane to
            the inner mitochondrial membrane. Mutations in this gene are a
            cause of congenital lipoid adrenal hyperplasia (CLAH), also called
            lipoid CAH. A pseudogene of this gene is located on chromosome 13.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM005654.1, SRR5189667.196142.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000276449.9/
                                                  ENSP00000276449.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AL526126.3         141-148
            9-741               U17280.1           1-733
            742-1613            BC010550.1         673-1544
            1614-1941           AV706872.1         242-569
            1942-1958           AV707696.1         104-120
            1959-1959           AC084024.17        28963-28963         c
            1960-1969           AV707696.1         121-130
            1970-2565           AV706111.1         1-596
FEATURES             Location/Qualifiers
     source          1..2565
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.23"
     gene            1..2565
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /note="steroidogenic acute regulatory protein"
                     /db_xref="GeneID:6770"
                     /db_xref="HGNC:HGNC:11359"
                     /db_xref="MIM:600617"
     exon            1..198
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             135..992
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /note="START domain containing 1; steroidogenic acute
                     regulator; StAR related lipid transfer (START) domain
                     containing 1; mitochondrial steroid acute regulatory
                     protein; cholesterol trafficker; START domain-containing
                     protein 1; testis secretory sperm-binding protein Li
                     241mP"
                     /codon_start=1
                     /product="steroidogenic acute regulatory protein,
                     mitochondrial"
                     /protein_id="NP_000340.2"
                     /db_xref="CCDS:CCDS6102.1"
                     /db_xref="GeneID:6770"
                     /db_xref="HGNC:HGNC:11359"
                     /db_xref="MIM:600617"
                     /translation="MLLATFKLCAGSSYRHMRNMKGLRQQAVMAISQELNRRALGGPT
                     PSTWINQVRRRSSLLGSRLEETLYSDQELAYLQQGEEAMQKALGILSNQEGWKKESQQ
                     DNGDKVMSKVVPDVGKVFRLEVVVDQPMERLYEELVERMEAMGEWNPNVKEIKVLQKI
                     GKDTFITHELAAEAAGNLVGPRDFVSVRCAKRRGSTCVLAGMATDFGNMPEQKGVIRA
                     EHGPTCMVLHPLAGSPSKTKLTWLLSIDLKGWLPKSIINQVLSQTQVDFANHLRKRLE
                     SHPASEARC"
     exon            199..312
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            313..440
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            441..599
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            600..784
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            785..878
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /inference="alignment:Splign:2.1.0"
     exon            879..2565
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1592..1597
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /note="hexamer: AATAAA"
     polyA_site      1616
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /note="major polyA site"
ORIGIN      
        1 gcagctgcgg gactcagagg cgaagcttga ggggctcagg aaggacgaag aaccaccctt
       61 gagagaagag gcagcagcag cggcggcagc agcagcggca gcgaccccac cactgccaca
      121 tttgccagga aacaatgctg ctagcgacat tcaagctgtg cgctgggagc tcctacagac
      181 acatgcgcaa catgaagggg ctgaggcaac aggctgtgat ggccatcagc caggagctga
      241 accggagggc cctggggggc cccaccccta gcacgtggat taaccaggtt cggcggcgga
      301 gctctctact cggttctcgg ctggaagaga ctctctacag tgaccaggag ctggcctatc
      361 tccagcaggg ggaggaggcc atgcagaagg ccttgggcat ccttagcaac caagagggct
      421 ggaagaagga gagtcagcag gacaatgggg acaaagtgat gagtaaagtg gtcccagatg
      481 tgggcaaggt gttccggctg gaggtcgtgg tggaccagcc catggagagg ctctatgaag
      541 agctcgtgga gcgcatggaa gcaatggggg agtggaaccc caatgtcaag gagatcaagg
      601 tcctgcagaa gatcggaaaa gatacattca ttactcacga gctggctgcc gaggcagcag
      661 gaaacctggt ggggccccgt gactttgtga gcgtgcgctg tgccaagcgc cgaggctcca
      721 cctgtgtgct ggctggcatg gccacagact tcgggaacat gcctgagcag aagggtgtca
      781 tcagggcgga gcacggtccc acttgcatgg tgcttcaccc gttggctgga agtccctcta
      841 agaccaaact tacgtggcta ctcagcatcg acctcaaggg gtggctgccc aagagcatca
      901 tcaaccaggt cctgtcccag acccaggtgg attttgccaa ccacctgcgc aagcgcctgg
      961 agtcccaccc tgcctctgaa gccaggtgtt gaagaccagc ctgctgttcc caactgtgcc
     1021 cagctgcact ggtacacacg ctcatcagga gaatccctac tggaagcctg caagtctaag
     1081 atctccatct ggtgacagtg ggatgggtgg ggttcgtgtt tagagtatga cactaggatt
     1141 cagattggtg aaagttttta gtaccaagaa aacagggatg aggctcttgg attaaaaggt
     1201 aacttcattc actgattagc tatgacatga gggttcaggc ccctaaaata attgtaaaac
     1261 tttttttctg ggcccttatg tacccaccta aaaccatctt taaaatgcta gtggctgata
     1321 tgggtgtggg ggatgctaac cacagggcct gagaagtctt gctttatggg ctcaagaatg
     1381 ccatgcgctg gcagtacatg tgcacaaagc agaatctcag agggtctcct gcagccctct
     1441 gctcctcccg gccgctgcac agcaacacca cagaacaagc agcaccccac agtgggtgcc
     1501 ttccagaaat atagtccaag ctttctctgt ggaaaaagac aaaactcatt agtagacatg
     1561 tttccctatt gctttcatag gcaccagtca gaataaagaa tcataattca cacaaacatc
     1621 agtctttgtt ttaatattgt actgttaaaa aaatctatgc agctgggtgc agtggctcac
     1681 gcctgtaatc ccagcatttt gggaggctga ggtaggcgga tcacaaggtc aggagatcga
     1741 gaccatcctg gccaacatgg tgaaaccccg tctctactaa aatacaaaaa attagctggg
     1801 tgtggtggcg caaacctgta gtcgtagcta cttgggaggc tgaggcaggg gaatcacttg
     1861 aaccccggag gcggaggttg tagtgggccg agattgtgcc actgcgctcc agcgtgggcg
     1921 acagagtgag actccatctc aaaaaaaaaa aaaaaaaaat ctatgctagt agattacaac
     1981 ttcacactag aggagttctg gacaaagctt ttaattagtc aaactaaatt aaggctcatt
     2041 aaaaggaaag gaactactgg gaaattatgc aattcaataa tttagactct gttaccagga
     2101 tctttcataa aaatttaatt tccataatca taacctaaat gagttcttaa agaattctat
     2161 aagcaatagc tgattaatgg gccctggaag atgaagatta taactgttta tttacctaat
     2221 taaaaggaaa ggcagtgcca aatatgagag gataaacaat attagttaac atttctgtta
     2281 tttatgatgc caattagtag taagataatt ccacagctgt caactttgtt tggggctggc
     2341 aacttctctg cttaaacagg ctaaaagttt agtattctgg gagaagtggc tggaagaagg
     2401 ggtaatatgg tgaaagcaaa ttccctttcc caggagtcaa gagaatttat gtgaggtggc
     2461 tcccgcctgt aatctcagca ctttgggagg ccaaggcagg caatcacctg agggcaggag
     2521 accagcctga ctaacatgga gaaaccccat ctctactaaa aatac
//
