LOCUS       NM_153741                396 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens dolichyl-phosphate mannosyltransferase subunit 3,
            regulatory (DPM3), transcript variant 2, mRNA.
ACCESSION   NM_153741
VERSION     NM_153741.2
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 396)
  AUTHORS   Nagy,S., Lau,T., Alavi,S., Karimiani,E.G., Vallian,J., Ng,B.G.,
            Noroozi Asl,S., Akhondian,J., Bahreini,A., Yaghini,O.,
            Uapinyoying,P., Bonnemann,C., Freeze,H.H., Dissanayake,V.H.W.,
            Sirisena,N.D., Schmidts,M., Houlden,H., Moreno-De-Luca,A. and
            Maroofian,R.
  TITLE     A recurrent homozygous missense DPM3 variant leads to muscle and
            brain disease
  JOURNAL   Clin Genet 102 (6), 530-536 (2022)
   PUBMED   35932216
  REMARK    GeneRIF: A recurrent homozygous missense DPM3 variant leads to
            muscle and brain disease.
REFERENCE   2  (bases 1 to 396)
  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   3  (bases 1 to 396)
  AUTHORS   van Tol,W., Michelakakis,H., Georgiadou,E., van den Bergh,P.,
            Moraitou,M., Papadimas,G.K., Papadopoulos,C., Huijben,K.,
            Alsady,M., Willemsen,M.A. and Lefeber,D.J.
  TITLE     Toward understanding tissue-specific symptoms in
            dolichol-phosphate-mannose synthesis disorders; insight from
            DPM3-CDG
  JOURNAL   J Inherit Metab Dis 42 (5), 984-992 (2019)
   PUBMED   30931530
  REMARK    GeneRIF: Toward understanding tissue-specific symptoms in
            dolichol-phosphate-mannose synthesis disorders; insight from
            DPM3-CDG.
REFERENCE   4  (bases 1 to 396)
  AUTHORS   Yang,A.C., Ng,B.G., Moore,S.A., Rush,J., Waechter,C.J.,
            Raymond,K.M., Willer,T., Campbell,K.P., Freeze,H.H. and Mehta,L.
  TITLE     Congenital disorder of glycosylation due to DPM1 mutations
            presenting with dystroglycanopathy-type congenital muscular
            dystrophy
  JOURNAL   Mol Genet Metab 110 (3), 345-351 (2013)
   PUBMED   23856421
REFERENCE   5  (bases 1 to 396)
  AUTHORS   Eeles,R.A., Olama,A.A., Benlloch,S., Saunders,E.J.,
            Leongamornlert,D.A., Tymrakiewicz,M., Ghoussaini,M., Luccarini,C.,
            Dennis,J., Jugurnauth-Little,S., Dadaev,T., Neal,D.E., Hamdy,F.C.,
            Donovan,J.L., Muir,K., Giles,G.G., Severi,G., Wiklund,F.,
            Gronberg,H., Haiman,C.A., Schumacher,F., Henderson,B.E., Le
            Marchand,L., Lindstrom,S., Kraft,P., Hunter,D.J., Gapstur,S.,
            Chanock,S.J., Berndt,S.I., Albanes,D., Andriole,G., Schleutker,J.,
            Weischer,M., Canzian,F., Riboli,E., Key,T.J., Travis,R.C.,
            Campa,D., Ingles,S.A., John,E.M., Hayes,R.B., Pharoah,P.D.,
            Pashayan,N., Khaw,K.T., Stanford,J.L., Ostrander,E.A.,
            Signorello,L.B., Thibodeau,S.N., Schaid,D., Maier,C., Vogel,W.,
            Kibel,A.S., Cybulski,C., Lubinski,J., Cannon-Albright,L.,
            Brenner,H., Park,J.Y., Kaneva,R., Batra,J., Spurdle,A.B.,
            Clements,J.A., Teixeira,M.R., Dicks,E., Lee,A., Dunning,A.M.,
            Baynes,C., Conroy,D., Maranian,M.J., Ahmed,S., Govindasami,K.,
            Guy,M., Wilkinson,R.A., Sawyer,E.J., Morgan,A., Dearnaley,D.P.,
            Horwich,A., Huddart,R.A., Khoo,V.S., Parker,C.C., Van As,N.J.,
            Woodhouse,C.J., Thompson,A., Dudderidge,T., Ogden,C., Cooper,C.S.,
            Lophatananon,A., Cox,A., Southey,M.C., Hopper,J.L., English,D.R.,
            Aly,M., Adolfsson,J., Xu,J., Zheng,S.L., Yeager,M., Kaaks,R.,
            Diver,W.R., Gaudet,M.M., Stern,M.C., Corral,R., Joshi,A.D.,
            Shahabi,A., Wahlfors,T., Tammela,T.L., Auvinen,A., Virtamo,J.,
            Klarskov,P., Nordestgaard,B.G., Roder,M.A., Nielsen,S.F.,
            Bojesen,S.E., Siddiq,A., Fitzgerald,L.M., Kolb,S., Kwon,E.M.,
            Karyadi,D.M., Blot,W.J., Zheng,W., Cai,Q., McDonnell,S.K.,
            Rinckleb,A.E., Drake,B., Colditz,G., Wokolorczyk,D.,
            Stephenson,R.A., Teerlink,C., Muller,H., Rothenbacher,D.,
            Sellers,T.A., Lin,H.Y., Slavov,C., Mitev,V., Lose,F.,
            Srinivasan,S., Maia,S., Paulo,P., Lange,E., Cooney,K.A.,
            Antoniou,A.C., Vincent,D., Bacot,F., Tessier,D.C., Kote-Jarai,Z.
            and Easton,D.F.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391 (2013)
   PUBMED   23535732
REFERENCE   6  (bases 1 to 396)
  AUTHORS   Manos,E.J., Kim,M.L., Kassis,J., Chang,P.Y., Wells,A. and
            Jones,D.A.
  TITLE     Dolichol-phosphate-mannose-3 (DPM3)/prostin-1 is a novel
            phospholipase C-gamma regulated gene negatively associated with
            prostate tumor invasion
  JOURNAL   Oncogene 20 (22), 2781-2790 (2001)
   PUBMED   11420690
REFERENCE   7  (bases 1 to 396)
  AUTHORS   Watanabe,R., Murakami,Y., Marmor,M.D., Inoue,N., Maeda,Y., Hino,J.,
            Kangawa,K., Julius,M. and Kinoshita,T.
  TITLE     Initial enzyme for glycosylphosphatidylinositol biosynthesis
            requires PIG-P and is regulated by DPM2
  JOURNAL   EMBO J 19 (16), 4402-4411 (2000)
   PUBMED   10944123
REFERENCE   8  (bases 1 to 396)
  AUTHORS   Maeda,Y., Tanaka,S., Hino,J., Kangawa,K. and Kinoshita,T.
  TITLE     Human dolichol-phosphate-mannose synthase consists of three
            subunits, DPM1, DPM2 and DPM3
  JOURNAL   EMBO J 19 (11), 2475-2482 (2000)
   PUBMED   10835346
REFERENCE   9  (bases 1 to 396)
  AUTHORS   Maeda,Y., Tomita,S., Watanabe,R., Ohishi,K. and Kinoshita,T.
  TITLE     DPM2 regulates biosynthesis of dolichol phosphate-mannose in
            mammalian cells: correct subcellular localization and stabilization
            of DPM1, and binding of dolichol phosphate
  JOURNAL   EMBO J 17 (17), 4920-4929 (1998)
   PUBMED   9724629
REFERENCE   10 (bases 1 to 396)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL691442.32.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_153741.1.
            
            Summary: Dolichol-phosphate mannose (Dol-P-Man) serves as a donor
            of mannosyl residues on the lumenal side of the endoplasmic
            reticulum (ER). Lack of Dol-P-Man results in defective surface
            expression of GPI-anchored proteins. Dol-P-Man is synthesized from
            GDP-mannose and dolichol-phosphate on the cytosolic side of the ER
            by the enzyme dolichyl-phosphate mannosyltransferase. The protein
            encoded by this gene is a subunit of dolichyl-phosphate
            mannosyltransferase and acts as a stabilizer subunit of the
            dolichyl-phosphate mannosyltransferase complex. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) contains an alternate exon in
            the 5' UTR and 5' coding region, compared to variant 1. This
            results in translation initiation from a downstream ATG and an
            isoform (2) with a shorter N-terminus compared to 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 :: CD177020.1, BC065233.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368400.5/ ENSP00000357385.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-41                AL691442.32        88763-88803         c
            42-396              AL691442.32        88163-88517         c
FEATURES             Location/Qualifiers
     source          1..396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..396
                     /gene="DPM3"
                     /gene_synonym="CDG1O; MDDGB15; MDDGC15"
                     /note="dolichyl-phosphate mannosyltransferase subunit 3,
                     regulatory"
                     /db_xref="GeneID:54344"
                     /db_xref="HGNC:HGNC:3007"
                     /db_xref="MIM:605951"
     exon            1..41
                     /gene="DPM3"
                     /gene_synonym="CDG1O; MDDGB15; MDDGC15"
                     /inference="alignment:Splign:2.1.0"
     exon            42..396
                     /gene="DPM3"
                     /gene_synonym="CDG1O; MDDGB15; MDDGC15"
                     /inference="alignment:Splign:2.1.0"
     CDS             47..325
                     /gene="DPM3"
                     /gene_synonym="CDG1O; MDDGB15; MDDGC15"
                     /EC_number="2.4.1.83"
                     /note="isoform 2 is encoded by transcript variant 2;
                     prostin 1; dolichol-phosphate mannose synthase subunit 3;
                     dolichyl-phosphate beta-D-mannosyltransferase subunit 3;
                     mannose-P-dolichol synthase subunit 3; dolichol-phosphate
                     mannosyltransferase subunit 3; MPD synthase subunit 3; DPM
                     synthase complex subunit 3; DPM synthase subunit 3;
                     dolichyl-phosphate mannosyltransferase polypeptide 3;
                     testicular tissue protein Li 58"
                     /codon_start=1
                     /product="dolichol-phosphate mannosyltransferase subunit 3
                     isoform 2"
                     /protein_id="NP_714963.1"
                     /db_xref="CCDS:CCDS1095.1"
                     /db_xref="GeneID:54344"
                     /db_xref="HGNC:HGNC:3007"
                     /db_xref="MIM:605951"
                     /translation="MTKLAQWLWGLAILGSTWVALTTGALGLELPLSCQEVLWPLPAY
                     LLVSAGCYALGTVGYRVATFHDCEDAARELQSQIQEARADLARRGLRF"
     regulatory      372..377
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPM3"
                     /gene_synonym="CDG1O; MDDGB15; MDDGC15"
                     /note="hexamer: ATTAAA"
     polyA_site      396
                     /gene="DPM3"
                     /gene_synonym="CDG1O; MDDGB15; MDDGC15"
                     /note="major polyA site"
ORIGIN      
        1 aacatccggg ccgcgcgggg aaggggagac gtggggtaga gtgaccatga cgaaattagc
       61 gcagtggctt tggggactag cgatcctggg ctccacctgg gtggccctga ccacgggagc
      121 cttgggcctg gagctgccct tgtcctgcca ggaagtcctg tggccactgc ccgcctactt
      181 gctggtgtcc gccggctgct atgccctggg cactgtgggc tatcgtgtgg ccacttttca
      241 tgactgcgag gacgccgcac gcgagctgca gagccagata caggaggccc gagccgactt
      301 agcccgcagg gggctgcgct tctgacagcc taaccccatt cctgtgcgga cagcccttcc
      361 tcccatttcc cattaaagag ccagtttatt ttctaa
//
