LOCUS       NM_003273               1578 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2),
            transcript variant 1, mRNA.
ACCESSION   NM_003273
VERSION     NM_003273.6
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 1578)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1578)
  AUTHORS   Capell-Hattam,I.M., Sharpe,L.J., Qian,L., Hart-Smith,G.,
            Prabhu,A.V. and Brown,A.J.
  TITLE     Twin enzymes, divergent control: The cholesterogenic enzymes DHCR14
            and LBR are differentially regulated transcriptionally and
            post-translationally
  JOURNAL   J Biol Chem 295 (9), 2850-2865 (2020)
   PUBMED   31911440
  REMARK    GeneRIF: Twin enzymes, divergent control: The cholesterogenic
            enzymes DHCR14 and LBR are differentially regulated
            transcriptionally and post-translationally.
REFERENCE   3  (bases 1 to 1578)
  AUTHORS   Ghai,R., Bugarcic,A., Liu,H., Norwood,S.J., Skeldal,S.,
            Coulson,E.J., Li,S.S., Teasdale,R.D. and Collins,B.M.
  TITLE     Structural basis for endosomal trafficking of diverse transmembrane
            cargos by PX-FERM proteins
  JOURNAL   Proc Natl Acad Sci U S A 110 (8), E643-E652 (2013)
   PUBMED   23382219
REFERENCE   4  (bases 1 to 1578)
  AUTHORS   Schiavoni,G., Bennati,A.M., Castelli,M., Della Fazia,M.A.,
            Beccari,T., Servillo,G. and Roberti,R.
  TITLE     Activation of TM7SF2 promoter by SREBP-2 depends on a new sterol
            regulatory element, a GC-box, and an inverted CCAAT-box
  JOURNAL   Biochim Biophys Acta 1801 (5), 587-592 (2010)
   PUBMED   20138239
  REMARK    GeneRIF: Data suggest that, besides the SRE motif, both the
            inverted CCAAT-box and GC-box2 are essential for full TM7SF2
            promoter activation by SREBP-2.
REFERENCE   5  (bases 1 to 1578)
  AUTHORS   Zwerger,M., Kolb,T., Richter,K., Karakesisoglou,I. and Herrmann,H.
  TITLE     Induction of a massive endoplasmic reticulum and perinuclear space
            expansion by expression of lamin B receptor mutants and the related
            sterol reductases TM7SF2 and DHCR7
  JOURNAL   Mol Biol Cell 21 (2), 354-368 (2010)
   PUBMED   19940018
  REMARK    GeneRIF: LBR mutant variants and sterol reductases can severely
            interfere with the regular organization of the nuclear envelope and
            the endoplasmic reticulum.
REFERENCE   6  (bases 1 to 1578)
  AUTHORS   Prakash,A. and Kasbekar,D.P.
  TITLE     Genes encoding chimeras of Neurospora crassa erg-3 and human TM7SF2
            proteins fail to complement Neurospora and yeast sterol C-14
            reductase mutants
  JOURNAL   J Biosci 27 (2), 105-112 (2002)
   PUBMED   11937680
  REMARK    GeneRIF: Results show that the TM7SF2 gene product SR-1 and six
            chimeras containing SR-1 and Neurospora erg-3 sequences fail to
            complement sterol c-14 reductase mutants in Neurospora and yeast.
REFERENCE   7  (bases 1 to 1578)
  AUTHORS   Roberti,R., Bennati,A.M., Galli,G., Caruso,D., Maras,B., Aisa,C.,
            Beccari,T., Della Fazia,M.A. and Servillo,G.
  TITLE     Cloning and expression of sterol Delta 14-reductase from bovine
            liver
  JOURNAL   Eur J Biochem 269 (1), 283-290 (2002)
   PUBMED   11784322
REFERENCE   8  (bases 1 to 1578)
  AUTHORS   Holmer,L., Pezhman,A. and Worman,H.J.
  TITLE     The human lamin B receptor/sterol reductase multigene family
  JOURNAL   Genomics 54 (3), 469-476 (1998)
   PUBMED   9878250
REFERENCE   9  (bases 1 to 1578)
  AUTHORS   Lemmens,I.H., Kas,K., Merregaert,J. and Van de Ven,W.J.
  TITLE     Identification and molecular characterization of TM7SF2 in the
            FAUNA gene cluster on human chromosome 11q13
  JOURNAL   Genomics 49 (3), 437-442 (1998)
   PUBMED   9615229
REFERENCE   10 (bases 1 to 1578)
  AUTHORS   Lemmens,I., Merregaert,J., Van de Ven,W.J., Kas,K., Zhang,C.X.,
            Giraud,S., Wautot,V., Buisson,N., De Witte,K., Salandre,J.,
            Lenoir,G., Calender,A., Parente,F., Quincey,D., Courseaux,A.,
            Carle,G.F., Gaudray,P., De Wit,M.J., Lips,C.J., Hoppener,J.W.,
            Khodaei,S., Grant,A.L., Weber,G., Kytola,S., Thakker,R.V. et al.
  TITLE     Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13
            encompassing the multiple endocrine neoplasia type 1 (MEN1) gene.
            The European Consortium on MEN1
  JOURNAL   Genomics 44 (1), 94-100 (1997)
   PUBMED   9286704
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003068.3.
            
            On Jun 4, 2020 this sequence version replaced NM_003273.5.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: BC009052.1, AK290935.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000279263.14/ ENSP00000279263.7
            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
            1-196               AP003068.3         71938-72133
            197-393             AP003068.3         72581-72777
            394-448             AP003068.3         72877-72931
            449-643             AP003068.3         73286-73480
            644-747             AP003068.3         73557-73660
            748-867             AP003068.3         74779-74898
            868-1036            AP003068.3         74979-75147
            1037-1117           AP003068.3         75380-75460
            1118-1240           AP003068.3         75542-75664
            1241-1578           AP003068.3         75959-76296
FEATURES             Location/Qualifiers
     source          1..1578
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..1578
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /note="transmembrane 7 superfamily member 2"
                     /db_xref="GeneID:7108"
                     /db_xref="HGNC:HGNC:11863"
                     /db_xref="MIM:603414"
     exon            1..196
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /inference="alignment:Splign:2.1.0"
     CDS             145..1401
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /EC_number="1.3.1.70"
                     /note="isoform 1 is encoded by transcript variant 1;
                     delta-14-SR; sterol C14-reductase; C-14 sterol reductase;
                     another new gene 1 protein; putative sterol reductase
                     SR-1; 3-beta-hydroxysterol Delta (14)-reductase;
                     delta(14)-sterol reductase TM7SF2"
                     /codon_start=1
                     /product="delta(14)-sterol reductase TM7SF2 isoform 1"
                     /protein_id="NP_003264.2"
                     /db_xref="CCDS:CCDS41669.1"
                     /db_xref="GeneID:7108"
                     /db_xref="HGNC:HGNC:11863"
                     /db_xref="MIM:603414"
                     /translation="MAPTQGPRAPLEFGGPLGAAALLLLLPATMFHLLLAARSGPARL
                     LGPPASLPGLEVLWSPRALLLWLAWLGLQAALYLLPARKVAEGQELKDKSRLRYPING
                     FQALVLTALLVGLGMSAGLPLGALPEMLLPLAFVATLTAFIFSLFLYMKAQVAPVSAL
                     APGGNSGNPIYDFFLGRELNPRICFFDFKYFCELRPGLIGWVLINLALLMKEAELRGS
                     PSLAMWLVNGFQLLYVGDALWHEEAVLTTMDITHDGFGFMLAFGDMAWVPFTYSLQAQ
                     FLLHHPQPLGLPMASVICLINATGYYIFRGANSQKNTFRKNPSDPRVAGLETISTATG
                     RKLLVSGWWGMVRHPNYLGDLIMALAWSLPCGVSHLLPYFYLLYFTALLVHREARDER
                     QCLQKYGLAWQEYCRRVPYRIMPYIY"
     exon            197..393
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /inference="alignment:Splign:2.1.0"
     exon            394..448
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /inference="alignment:Splign:2.1.0"
     exon            449..643
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /inference="alignment:Splign:2.1.0"
     exon            644..747
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /inference="alignment:Splign:2.1.0"
     exon            748..867
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /inference="alignment:Splign:2.1.0"
     exon            868..1036
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1117
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1240
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1578
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1559..1564
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /note="hexamer: AATGAA"
     polyA_site      1578
                     /gene="TM7SF2"
                     /gene_synonym="ANG1; C14SR; DHCR14A; NET47"
                     /note="major polyA site"
ORIGIN      
        1 gtctgcgttc cgtgtccagg caggtgcagg cgccgcgggg ccggatcctc cgcgcggccg
       61 agtccatctc ctgggaaatg gggcggacag tgtttccttg actgactatt gtgagcgccc
      121 tctctctccg gcggagcgga gaccatggcc cccactcagg gcccccgggc cccgctggaa
      181 ttcggagggc ccctgggcgc cgcggctctg ctactgctgc tgcccgccac catgttccac
      241 ctgctcctgg cggcccgttc gggccccgcg cgcctgctgg gtccacccgc gtccctgccg
      301 gggctggagg tgctgtggag cccacgggcg ctgctgctgt ggctcgcctg gctcggcctg
      361 caggcggcgc tctacctact gccggcgcgc aaggtggccg aggggcagga attgaaggac
      421 aagagtcgcc tgcgctatcc tattaacggc ttccaggccc tggtgctgac agccctgttg
      481 gtggggctgg ggatgtcagc ggggctgcct ctgggggcgc tcccggaaat gctcctgccc
      541 ttggcgtttg tcgccaccct caccgctttc atcttcagcc tctttctcta catgaaggcg
      601 caggtagccc cagtttcggc cctggcacct ggggggaact caggcaatcc gatttacgac
      661 ttttttctgg gacgagagct caaccctcgt atctgtttct tcgacttcaa atatttctgt
      721 gaactgcgac ccggcctcat cggctgggtc ctcatcaacc tggccctgtt gatgaaggag
      781 gcagagcttc gaggcagtcc ctcactggcc atgtggctgg tcaatggctt ccagttgctc
      841 tacgtgggtg atgccctctg gcacgaggag gccgtcctca ccaccatgga tatcacacat
      901 gacgggtttg gcttcatgct ggcgtttggg gacatggcct gggtgccctt cacctacagc
      961 ctgcaggccc agttcctgct gcaccacccg cagcccctgg ggttgcccat ggcctctgtc
     1021 atctgcctca tcaatgctac tggttactac atcttccgtg gggcgaattc ccagaaaaac
     1081 actttccgaa agaatccttc tgaccccaga gtggctgggc ttgagaccat ctctacagcc
     1141 acagggcgga aactgctggt gtctgggtgg tggggtatgg tccgccatcc caactatctt
     1201 ggagacctca tcatggctct ggcttggtcc ttgccctgcg gggtgtcaca cctgctgccc
     1261 tacttctacc tcctctactt caccgcgctg ctggtgcacc gtgaggcccg ggatgagcgg
     1321 cagtgcctgc agaagtacgg cctggcctgg caggagtact gccggcgtgt gccttaccgc
     1381 atcatgccct acatctactg aagcggctcc accaccccag gtgggggcat gtgcccactc
     1441 atccaccagc acacccagga ccaggagcct cgacacactt gggactcaag ggcttgcacc
     1501 ccacccagcc ctgaggatga acaacctcag agaagaggtg gtttagagca aggaaaaaaa
     1561 tgaaaccagt gaccaaaa
//
