LOCUS       NM_004870               1416 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens mannose-P-dolichol utilization defect 1 (MPDU1),
            transcript variant 1, mRNA.
ACCESSION   NM_004870
VERSION     NM_004870.4
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 1416)
  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 1416)
  AUTHORS   Bennett,D.C., Cazet,A., Charest,J. and Contessa,J.N.
  TITLE     MPDU1 regulates CEACAM1 and cell adhesion in vitro and in vivo
  JOURNAL   Glycoconj J 35 (3), 265-274 (2018)
   PUBMED   29671116
  REMARK    GeneRIF: These experiments also confirmed that protein levels of
            CEACAM-1, which functions in cell adhesion, is dependent on LLO
            biosynthesis in vivo. Kato III cells and the MPDU1-rescued Kato
            IIIM cells therefore provide a novel model to examine the
            consequences of defective LLO biosynthesis both in vitro and in
            vivo.
REFERENCE   3  (bases 1 to 1416)
  AUTHORS   Bastaki,F., Bizzari,S., Hamici,S., Nair,P., Mohamed,M., Saif,F.,
            Malik,E.M., Al-Ali,M.T. and Hamzeh,A.R.
  TITLE     Single-center experience of N-linked Congenital Disorders of
            Glycosylation with a Summary of Molecularly Characterized Cases in
            Arabs
  JOURNAL   Ann Hum Genet 82 (1), 35-47 (2018)
   PUBMED   28940310
REFERENCE   4  (bases 1 to 1416)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 1416)
  AUTHORS   Chen,Z., Tao,S., Gao,Y., Zhang,J., Hu,Y., Mo,L., Kim,S.T., Yang,X.,
            Tan,A., Zhang,H., Qin,X., Li,L., Wu,Y., Zhang,S., Zheng,S.L.,
            Xu,J., Mo,Z. and Sun,J.
  TITLE     Genome-wide association study of sex hormones, gonadotropins and
            sex hormone-binding protein in Chinese men
  JOURNAL   J Med Genet 50 (12), 794-801 (2013)
   PUBMED   24049095
REFERENCE   6  (bases 1 to 1416)
  AUTHORS   Schenk,B., Imbach,T., Frank,C.G., Grubenmann,C.E., Raymond,G.V.,
            Hurvitz,H., Korn-Lubetzki,I., Revel-Vik,S., Raas-Rotschild,A.,
            Luder,A.S., Jaeken,J., Berger,E.G., Matthijs,G., Hennet,T. and
            Aebi,M.
  TITLE     MPDU1 mutations underlie a novel human congenital disorder of
            glycosylation, designated type If
  JOURNAL   J Clin Invest 108 (11), 1687-1695 (2001)
   PUBMED   11733564
  REMARK    Erratum:[J Clin Invest. 2003 Mar;111(6):925]
REFERENCE   7  (bases 1 to 1416)
  AUTHORS   Kranz,C., Denecke,J., Lehrman,M.A., Ray,S., Kienz,P., Kreissel,G.,
            Sagi,D., Peter-Katalinic,J., Freeze,H.H., Schmid,T.,
            Jackowski-Dohrmann,S., Harms,E. and Marquardt,T.
  TITLE     A mutation in the human MPDU1 gene causes congenital disorder of
            glycosylation type If (CDG-If)
  JOURNAL   J Clin Invest 108 (11), 1613-1619 (2001)
   PUBMED   11733556
REFERENCE   8  (bases 1 to 1416)
  AUTHORS   Mao,M., Fu,G., Wu,J.S., Zhang,Q.H., Zhou,J., Kan,L.X., Huang,Q.H.,
            He,K.L., Gu,B.W., Han,Z.G., Shen,Y., Gu,J., Yu,Y.P., Xu,S.H.,
            Wang,Y.X., Chen,S.J. and Chen,Z.
  TITLE     Identification of genes expressed in human CD34(+) hematopoietic
            stem/progenitor cells by expressed sequence tags and efficient
            full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8175-8180 (1998)
   PUBMED   9653160
REFERENCE   9  (bases 1 to 1416)
  AUTHORS   Ware,F.E. and Lehrman,M.A.
  TITLE     Expression cloning of a novel suppressor of the Lec15 and Lec35
            glycosylation mutations of Chinese hamster ovary cells
  JOURNAL   J Biol Chem 271 (24), 13935-13938 (1996)
   PUBMED   8663248
  REMARK    Erratum:[J Biol Chem. 1998 May 22;273(21):13366.. PMID: 12755100]
REFERENCE   10 (bases 1 to 1416)
  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 BC001898.1, BG776573.1,
            BM127836.1 and BQ002417.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004870.3.
            
            Summary: This gene encodes an endoplasmic reticulum membrane
            protein that is required for utilization of the mannose donor
            mannose-P-dolichol in the synthesis of lipid-linked
            oligosaccharides and glycosylphosphatidylinositols. Mutations in
            this gene result in congenital disorder of glycosylation type If.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and 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 :: KY814480.1, KY814481.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000250124.11/ ENSP00000250124.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-695               BC001898.1         17-711
            696-1062            BG776573.1         240-606
            1063-1409           BM127836.1         3-349               c
            1410-1416           BQ002417.1         14-20               c
FEATURES             Location/Qualifiers
     source          1..1416
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..1416
                     /gene="MPDU1"
                     /gene_synonym="CDGIF; HBEBP2BPA; Lec35; My008; PP3958;
                     PQLC5; SL15; SLC66A5"
                     /note="mannose-P-dolichol utilization defect 1"
                     /db_xref="GeneID:9526"
                     /db_xref="HGNC:HGNC:7207"
                     /db_xref="MIM:604041"
     exon            1..114
                     /gene="MPDU1"
                     /gene_synonym="CDGIF; HBEBP2BPA; Lec35; My008; PP3958;
                     PQLC5; SL15; SLC66A5"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..755
                     /gene="MPDU1"
                     /gene_synonym="CDGIF; HBEBP2BPA; Lec35; My008; PP3958;
                     PQLC5; SL15; SLC66A5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mannose-P-dolichol utilization defect 1 protein;
                     suppressor of Lec15 and Lec35 glycosylation mutation
                     homolog; HBeAg-binding protein 2 binding protein A"
                     /codon_start=1
                     /product="mannose-P-dolichol utilization defect 1 protein
                     isoform 1"
                     /protein_id="NP_004861.2"
                     /db_xref="CCDS:CCDS11115.1"
                     /db_xref="GeneID:9526"
                     /db_xref="HGNC:HGNC:7207"
                     /db_xref="MIM:604041"
                     /translation="MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSK
                     GLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSS
                     WGEALFLMLQTITICFLVMHYRGQTVKGVAFLACYGLVLLVLLSPLTPLTVVTLLQAS
                     NVPAVVVGRLLQAATNYHNGHTGQLSAITVFLLFGGSLARIFTSIQETGDPLMAGTFV
                     VSSLCNGLIAAQLLFYWNAKPPHKQKKAQ"
     exon            115..180
                     /gene="MPDU1"
                     /gene_synonym="CDGIF; HBEBP2BPA; Lec35; My008; PP3958;
                     PQLC5; SL15; SLC66A5"
                     /inference="alignment:Splign:2.1.0"
     exon            181..313
                     /gene="MPDU1"
                     /gene_synonym="CDGIF; HBEBP2BPA; Lec35; My008; PP3958;
                     PQLC5; SL15; SLC66A5"
                     /inference="alignment:Splign:2.1.0"
     exon            314..399
                     /gene="MPDU1"
                     /gene_synonym="CDGIF; HBEBP2BPA; Lec35; My008; PP3958;
                     PQLC5; SL15; SLC66A5"
                     /inference="alignment:Splign:2.1.0"
     exon            400..518
                     /gene="MPDU1"
                     /gene_synonym="CDGIF; HBEBP2BPA; Lec35; My008; PP3958;
                     PQLC5; SL15; SLC66A5"
                     /inference="alignment:Splign:2.1.0"
     exon            519..629
                     /gene="MPDU1"
                     /gene_synonym="CDGIF; HBEBP2BPA; Lec35; My008; PP3958;
                     PQLC5; SL15; SLC66A5"
                     /inference="alignment:Splign:2.1.0"
     exon            630..1416
                     /gene="MPDU1"
                     /gene_synonym="CDGIF; HBEBP2BPA; Lec35; My008; PP3958;
                     PQLC5; SL15; SLC66A5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1362..1367
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPDU1"
                     /gene_synonym="CDGIF; HBEBP2BPA; Lec35; My008; PP3958;
                     PQLC5; SL15; SLC66A5"
                     /note="hexamer: AATAAA"
     polyA_site      1391
                     /gene="MPDU1"
                     /gene_synonym="CDGIF; HBEBP2BPA; Lec35; My008; PP3958;
                     PQLC5; SL15; SLC66A5"
                     /note="major polyA site"
     polyA_site      1416
                     /gene="MPDU1"
                     /gene_synonym="CDGIF; HBEBP2BPA; Lec35; My008; PP3958;
                     PQLC5; SL15; SLC66A5"
ORIGIN      
        1 agctttgcaa tatggcggcc gaggcggacg gaccgcttaa acggctgctc gtgccgattc
       61 ttttacctga gaaatgctac gaccaacttt tcgttcagtg ggacttgctt cacgtcccct
      121 gcctcaagat tctcctcagc aaaggcctgg ggctgggcat tgtggctggc tcacttctag
      181 taaagctgcc ccaggtgttt aaaatcctgg gagccaagag tgctgaaggg ttgagtctcc
      241 agtctgtaat gctggagcta gtggcattga ctgggaccat ggtctacagc atcactaaca
      301 acttcccatt cagctcttgg ggtgaagcct tattcctgat gctccagacg atcaccatct
      361 gcttcctggt catgcactac agaggacaga ctgtgaaagg tgtcgctttc ctcgcttgct
      421 acggcctggt cctgctggtg cttctctcac ctctgacgcc cttgactgta gtcaccctgc
      481 tccaggcctc caatgtgcct gctgtggtgg tggggaggct tctccaggca gccaccaact
      541 accacaacgg gcacacaggc cagctctcag ccatcacagt cttcctgctg tttgggggct
      601 ccctggcccg aatcttcact tccattcagg aaaccggaga tcccctgatg gctgggacct
      661 ttgtggtctc ctctctctgc aacggcctca tcgccgccca gctgctcttc tactggaatg
      721 caaagcctcc ccacaagcag aaaaaggcgc agtagagcca gctactggag tcattccgtt
      781 tccactcatt cacccaacct cagggttctc cccatctgag ccagcctgct ggtgtgactt
      841 actcatcctc cattcctctg cacttgcaga ctttctgagc cagggttttc ttttagtgga
      901 aacaaatggt tgatggatcc agatccttag aaaaggagag gatgggggta gagtctccca
      961 agccaaaatt ttgacatttg agtgctttcg taagccctgt acatgtacta ttaattcagt
     1021 cattcagcca agcctcctcc tctagcagca atttccagct gtgtaacact atcctgggca
     1081 aatgttttac cctgtcctcc agcctccctg cttcccttct ggccctggaa gactgagtct
     1141 ggacggcaga gtggagggac tgggaggctg tggctgcctc cctccctcag cccggctggg
     1201 actgtctccc ggaccccagt gctggggtgg gggaaggggg acggagaatg actcaggcag
     1261 ggccccaggg tggggtgagg aggttcctgc tctggcaggt ctaggcggaa gggagtggag
     1321 atggggctgg ttcctgctgc agtgagggga acagatggga caataaagac tggagactca
     1381 gttgaataat acaaaactgt ttaatactac caaaaa
//
