LOCUS       NM_020151               3377 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens StAR related lipid transfer domain containing 7
            (STARD7), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_020151
VERSION     NM_020151.4
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 3377)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 3377)
  AUTHORS   Rojas,M.L., Cruz Del Puerto,M.M., Flores-Martin,J., Racca,A.C.,
            Kourdova,L.T., Miranda,A.L., Panzetta-Dutari,G.M. and
            Genti-Raimondi,S.
  TITLE     Role of the lipid transport protein StarD7 in mitochondrial
            dynamics
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1866 (12), 159029 (2021)
   PUBMED   34416390
  REMARK    GeneRIF: Role of the lipid transport protein StarD7 in
            mitochondrial dynamics.
REFERENCE   3  (bases 1 to 3377)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3377)
  AUTHORS   Horibata,Y., Mitsuhashi,S., Shimizu,H., Maejima,S., Sakamoto,H.,
            Aoyama,C., Ando,H. and Sugimoto,H.
  TITLE     The phosphatidylcholine transfer protein StarD7 is important for
            myogenic differentiation in mouse myoblast C2C12 cells and human
            primary skeletal myoblasts
  JOURNAL   Sci Rep 10 (1), 2845 (2020)
   PUBMED   32071354
  REMARK    GeneRIF: The phosphatidylcholine transfer protein StarD7 is
            important for myogenic differentiation in mouse myoblast C2C12
            cells and human primary skeletal myoblasts.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3377)
  AUTHORS   Corbett,M.A., Kroes,T., Veneziano,L., Bennett,M.F., Florian,R.,
            Schneider,A.L., Coppola,A., Licchetta,L., Franceschetti,S.,
            Suppa,A., Wenger,A., Mei,D., Pendziwiat,M., Kaya,S., Delledonne,M.,
            Straussberg,R., Xumerle,L., Regan,B., Crompton,D., van
            Rootselaar,A.F., Correll,A., Catford,R., Bisulli,F.,
            Chakraborty,S., Baldassari,S., Tinuper,P., Barton,K., Carswell,S.,
            Smith,M., Berardelli,A., Carroll,R., Gardner,A., Friend,K.L.,
            Blatt,I., Iacomino,M., Di Bonaventura,C., Striano,S., Buratti,J.,
            Keren,B., Nava,C., Forlani,S., Rudolf,G., Hirsch,E., Leguern,E.,
            Labauge,P., Balestrini,S., Sander,J.W., Afawi,Z., Helbig,I.,
            Ishiura,H., Tsuji,S., Sisodiya,S.M., Casari,G., Sadleir,L.G., van
            Coller,R., Tijssen,M.A.J., Klein,K.M., van den
            Maagdenberg,A.M.J.M., Zara,F., Guerrini,R., Berkovic,S.F.,
            Pippucci,T., Canafoglia,L., Bahlo,M., Striano,P., Scheffer,I.E.,
            Brancati,F., Depienne,C. and Gecz,J.
  TITLE     Intronic ATTTC repeat expansions in STARD7 in familial adult
            myoclonic epilepsy linked to chromosome 2
  JOURNAL   Nat Commun 10 (1), 4920 (2019)
   PUBMED   31664034
  REMARK    GeneRIF: Familial Adult Myoclonic Epilepsy type 2 is caused by an
            expansion of an ATTTC pentamer within the first intron of STARD7.
            GeneRIF: An ATTTC expansion in the first intron of STARD7
            segregated with Familial Adult Myoclonic Epilepsy (FAME2, OMIM:
            607876)in 158 typically affected individuals. Expression of STARD7
            mRNA and protein abundance was not altered in fibroblast cell lines
            derived from individuals with FAME2 ATTTC repeat expansions.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3377)
  AUTHORS   Horibata,Y. and Sugimoto,H.
  TITLE     StarD7 mediates the intracellular trafficking of
            phosphatidylcholine to mitochondria
  JOURNAL   J Biol Chem 285 (10), 7358-7365 (2010)
   PUBMED   20042613
  REMARK    GeneRIF: These results suggest that StarD7 facilitates the delivery
            of phosphatidylcholine to mitochondria in non-vesicular system.
REFERENCE   7  (bases 1 to 3377)
  AUTHORS   Rena,V., Angeletti,S., Panzetta-Dutari,G. and Genti-Raimondi,S.
  TITLE     Activation of beta-catenin signalling increases StarD7 gene
            expression in JEG-3 cells
  JOURNAL   Placenta 30 (10), 876-883 (2009)
   PUBMED   19679347
  REMARK    GeneRIF: Beta-catenin and TCF4 activate the human StarD7 gene
            interacting with its promoter region through Wnt/beta-catenin
            signalling.
REFERENCE   8  (bases 1 to 3377)
  AUTHORS   Szafranski,K., Schindler,S., Taudien,S., Hiller,M., Huse,K.,
            Jahn,N., Schreiber,S., Backofen,R. and Platzer,M.
  TITLE     Violating the splicing rules: TG dinucleotides function as
            alternative 3' splice sites in U2-dependent introns
  JOURNAL   Genome Biol 8 (8), R154 (2007)
   PUBMED   17672918
  REMARK    GeneRIF: the apparent occurrence of an unusual TG 3' splice site in
            intron 1 is discussed
REFERENCE   9  (bases 1 to 3377)
  AUTHORS   Durand,S., Angeletti,S. and Genti-Raimondi,S.
  TITLE     GTT1/StarD7, a novel phosphatidylcholine transfer protein-like
            highly expressed in gestational trophoblastic tumour: cloning and
            characterization
  JOURNAL   Placenta 25 (1), 37-44 (2004)
   PUBMED   15013637
REFERENCE   10 (bases 1 to 3377)
  AUTHORS   Guerrini,R., Bonanni,P., Patrignani,A., Brown,P., Parmeggiani,L.,
            Grosse,P., Brovedani,P., Moro,F., Aridon,P., Carrozzo,R. and
            Casari,G.
  TITLE     Autosomal dominant cortical myoclonus and epilepsy (ADCME) with
            complex partial and generalized seizures: A newly recognized
            epilepsy syndrome with linkage to chromosome 2p11.1-q12.2
  JOURNAL   Brain 124 (Pt 12), 2459-2475 (2001)
   PUBMED   11701600
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012307.8.
            
            On Jul 21, 2020 this sequence version replaced NM_020151.3.
            
            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 :: BC014274.2, AF270647.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337288.10/ ENSP00000338030.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-683               AC012307.8         86483-87165         c
            684-892             AC012307.8         73679-73887         c
            893-942             AC012307.8         73296-73345         c
            943-1053            AC012307.8         71580-71690         c
            1054-1136           AC012307.8         71416-71498         c
            1137-1236           AC012307.8         70707-70806         c
            1237-1321           AC012307.8         65555-65639         c
            1322-3377           AC012307.8         63197-65252         c
FEATURES             Location/Qualifiers
     source          1..3377
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..3377
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /note="StAR related lipid transfer domain containing 7"
                     /db_xref="GeneID:56910"
                     /db_xref="HGNC:HGNC:18063"
                     /db_xref="MIM:616712"
     exon            1..683
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             394..1506
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; START domain containing 7; stAR-related lipid
                     transfer protein 7, mitochondrial; START domain-containing
                     protein 7; gestational trophoblastic tumor protein 1;
                     StAR-related lipid transfer (START) domain containing 7;
                     familial adult myoclonic epilepsy 2; benign adult familial
                     myoclonic epilepsy 2; cortical myoclonus and epilepsy,
                     autosomal dominant; familial cortical myoclonic tremor
                     with epilepsy 2"
                     /codon_start=1
                     /product="stAR-related lipid transfer protein 7,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_064536.2"
                     /db_xref="CCDS:CCDS2017.2"
                     /db_xref="GeneID:56910"
                     /db_xref="HGNC:HGNC:18063"
                     /db_xref="MIM:616712"
                     /translation="MLPRRLLAAWLAGTRGGGLLALLANQCRFVTGLRVRRAQQIAQL
                     YGRLYSESSRRVLLGRLWRRLHGRPGHASALMAALAGVFVWDEERIQEEELQRSINEM
                     KRLEEMSNMFQSSGVQHHPPEPKAQTEGNEDSEGKEQRWEMVMDKKHFKLWRRPITGT
                     HLYQYRVFGTYTDVTPRQFFNVQLDTEYRKKWDALVIKLEVIERDVVSGSEVLHWVTH
                     FPYPMYSRDYVYVRRYSVDQENNMMVLVSRAVEHPSVPESPEFVRVRSYESQMVIRPH
                     KSFDENGFDYLLTYSDNPQTVFPRYCVSWMVSSGMPDFLEKLHMATLKAKNMEIKVKD
                     YISAKPLEMSSEAKATSQSSERKNEGSCGPARIEYA"
     exon            684..892
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /inference="alignment:Splign:2.1.0"
     exon            893..942
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1053
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..1136
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1137..1236
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1237..1321
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..3377
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2672..2677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /note="hexamer: AATAAA"
     polyA_site      2695
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /note="major polyA site"
     polyA_site      2890
                     /gene="STARD7"
                     /gene_synonym="ADCME; BAFME2; FAME; FAME2; FCMTE2; GTT1"
                     /note="major polyA site"
ORIGIN      
        1 gtggcagtcg cggaaggcgc gggagcttgc gtgctgctgg gcctgagctg tctgtctcgt
       61 ttctgtccgc gcgccctgca tcccggcccc gggcgcccgc tggaggtcgc cgaggagcca
      121 cagggctgac tggtctgctg cccgggccca ggagtgcctg gtgtagcagt cgcggagcca
      181 tcccggcgtc tgctgccatg accgactctc ccctcagagg agactcttcc tcagcggtgg
      241 ctgcagagac agatgagcgg cggctcctgg ccgcgggacc gtgagacggg ttcgtggccg
      301 gccatttagg gggacgctgc gaccaccgcc tgcgcccctc cggactggtt ccttgggccc
      361 cggaagctcg cggcgggccc tgcgggaggc ggcatgctcc cgcggaggct gctggccgcc
      421 tggctggcgg ggacgcgggg cgggggcctg ctggcgcttc tggccaatca gtgccgcttc
      481 gtcacgggcc tgcgcgtgcg gcgcgcgcag cagatcgcgc agctctacgg ccgcctctac
      541 tccgagagct cacgccgcgt tctcctcggc cgcctctggc gccggctgca cggccgtcct
      601 ggccatgcct ctgccttgat ggcggcgtta gccggcgtct tcgtttggga cgaggagagg
      661 atccaggagg aggagttgca gagatctatt aatgagatga agcggttgga agaaatgtca
      721 aatatgtttc agagctctgg agtccagcac caccctccag aaccaaaagc ccaaacagaa
      781 gggaatgaag attcagaggg caaagagcaa cgttgggaaa tggtgatgga taagaaacac
      841 tttaagctgt ggcggcgccc aattacaggc acccaccttt accagtaccg agtttttgga
      901 acctacacag atgtgacacc tcggcagttc ttcaatgttc agctggacac agagtataga
      961 aaaaaatggg atgccctggt aatcaagctg gaggtgattg agagggatgt ggttagtggt
     1021 tccgaggttc ttcactgggt aacccatttt ccttatccaa tgtactcacg ggattatgtt
     1081 tatgttcggc ggtatagtgt ggatcaggaa aacaacatga tggtgttggt gtcgcgtgct
     1141 gtggagcatc cgagtgtgcc agagtctcca gaattcgtca gggtcagatc atatgaatcc
     1201 caaatggtta tccgtcccca caagtcattt gatgagaatg gctttgacta cttactaaca
     1261 tacagtgaca atccccaaac ggtgtttcct cgctactgtg ttagttggat ggtttccagt
     1321 ggcatgccag atttcctgga gaagctgcac atggccactc tgaaagccaa gaatatggag
     1381 attaaagtaa aggactacat ctcagctaag cctctggaaa tgagtagtga agccaaggcc
     1441 accagccagt cctctgagcg aaagaacgag ggcagctgtg gccctgctcg gattgagtat
     1501 gcttgacagg ctttgggata agaagggaca aggtgcttct agccctgtct cagtccgtta
     1561 tcactctgct gtagaagggg gacatgccac atgtattaga aggcatctgc tgtaacttcc
     1621 agtgcaagat aattcaataa ctgatgtccc atttcattca gagcccttat tgctcttatc
     1681 aaaacagaag aaggctacat ttgtgggagt gttgtcatat tctcaggcca actgttttga
     1741 aattcggtat ctcactgagc taatctggaa caaacctctc acctcaggcc agaaggggat
     1801 gacctccatt tgcttctctg agtagtttcc tctgctgaca ttccaaatcc caccatcgat
     1861 tgtgcagcgc tttggatttc cttcagttct ccaggtccac ctggaaagta tagttggcca
     1921 gttgagtctc tcaaatgagg ggctactggg agtgctcttg gtaacaatca tgatgtgaat
     1981 gggtgtgaac gatacttggc tatgttaagt gccttgtccg caccttgctt ttatctctag
     2041 agacatgaag ttattattaa tttttttttt ttttaagtag agatggagtt tcactctgtt
     2101 tcccaggctg gtcttgaact cctgggccat gcctggccag ggacatgaat ttgtacaaag
     2161 aaatttccct ccctgcctgc acaatatcac ccattgactc accttatcca aagcaagttt
     2221 cctgtgaatc ggccagttct tctatattca ttggatcatt gcctccttcc taaccttccc
     2281 catttaccaa gaacactggg agactaatcc ttttagatag tagctttttg atgctcaaaa
     2341 catcacattt aaatttagtt taaaaatttt ttaacttttg tgtcaaatag gagttgagga
     2401 attgagcagg attctaccct agtccgattg tatagaaaac accattttga ttcaggtatt
     2461 atttttcata tttcaggttt gacttgttct tttcagaagg ctaaagtcag aggaatgggg
     2521 gctgggccac tcccttggag ctctcagatc tacagacaag ctgtgtgaat gcatagatgt
     2581 aatcttgtct caaatactaa tacagtggag atttggttta tgttaccatt aagttcctct
     2641 aaaaagtttt tcttcctctc ttcagagcca aaataaaagt gaactacact gttcagataa
     2701 ggtcacaatc tgatgctgtc agtttgaccg agctggtttt gcttatggtc atgctgcaat
     2761 ttgttagaat aatagggatc aagttttaaa tcctcctcct tccctttttt ctggagtctt
     2821 gagggccaga gtttttgttt ttgtttttgt ttttgttttc ctgcttgcta ctgttttgtg
     2881 gtgttgaaaa gtggtttaaa cctgagacta acttaaacac ttccttgacc ttcttgttgc
     2941 ctgttcattt ttgtgccaag gaagtagctg ccccagtgta tgtcttgcct tctccgcgtc
     3001 attgttggaa gaggagagat gcatcgagca gtcccagctg cttttcattt attacttctt
     3061 ctttccagga cctgacagaa gtcagggaag agtccctggg ttatgtccaa acttagcacc
     3121 tgcaattgtt gggatgtgga tggatgtgtg cataagagag agagagaata tgtgtgtgtg
     3181 tgtgtgcgtc tgcgagcgca cacacatgca caagtgcgaa ggagttgcgg ttgctccatg
     3241 ttctgactta gggcaatttg attctgcact tggggtctgt ctgtacagtt actcatgtca
     3301 ttgtaatgat ttcactccta actgtgacat ttttatcaaa tgtgtgaata aatacataaa
     3361 gattggtaca aaaaaaa
//
