LOCUS       NM_011900               1328 bp    mRNA    linear   ROD 04-OCT-2024
DEFINITION  Mus musculus mannose-P-dolichol utilization defect 1 (Mpdu1),
            transcript variant 1, mRNA.
ACCESSION   NM_011900 XM_904482 XM_918845 XM_918853
VERSION     NM_011900.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1328)
  AUTHORS   Wang,F., Tan,P., Zhang,P., Ren,Y., Zhou,J., Li,Y., Hou,S., Li,S.,
            Zhang,L., Ma,Y., Wang,C., Tang,W., Wang,X., Huo,Y., Hu,Y., Cui,T.,
            Niu,C., Wang,D., Liu,B., Lan,Y. and Yu,J.
  TITLE     Single-cell architecture and functional requirement of alternative
            splicing during hematopoietic stem cell formation
  JOURNAL   Sci Adv 8 (1), eabg5369 (2022)
   PUBMED   34995116
REFERENCE   2  (bases 1 to 1328)
  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    GeneRIF: study of mutations in human ortholog of MPDU1
            Erratum:[J Clin Invest. 2003 Mar;111(6):925]
REFERENCE   3  (bases 1 to 1328)
  AUTHORS   Anand,M., Rush,J.S., Ray,S., Doucey,M.A., Weik,J., Ware,F.E.,
            Hofsteenge,J., Waechter,C.J. and Lehrman,M.A.
  TITLE     Requirement of the Lec35 gene for all known classes of
            monosaccharide-P-dolichol-dependent glycosyltransferase reactions
            in mammals
  JOURNAL   Mol Biol Cell 12 (2), 487-501 (2001)
   PUBMED   11179430
  REMARK    GeneRIF: A functional study of Mpdu1 in hamster
REFERENCE   4  (bases 1 to 1328)
  AUTHORS   Miyashita,A., Shimizu,N., Endo,N., Hanyuu,T., Ishii,N., Ito,K.,
            Itoh,Y., Shirai,M., Nakajima,T., Odani,S. and Kuwano,R.
  TITLE     Five different genes, Eif4a1, Cd68, Supl15h, Sox15 and Fxr2h, are
            clustered in a 40 kb region of mouse chromosome 11
  JOURNAL   Gene 237 (1), 53-60 (1999)
   PUBMED   10524236
REFERENCE   5  (bases 1 to 1328)
  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 AL603707.5, AK080233.1 and
            BE686800.1.
            
            On Sep 11, 2014 this sequence version replaced NM_011900.3.
            
            Summary: This gene encodes a member of the PQ-loop superfamily. A
            similar gene in human encodes a protein that is required for
            monosaccharide-P-dolichol-dependent glycosyltransferase reactions,
            and disruption of this gene is the cause of congenital disorder of
            glycosylation (CDG) type 1F, a disease linked to defects in protein
            N-glycosylation. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Sep 2014].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC026776.1, AK080233.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164143 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AL603707.5         41872-41878         c
            8-845               AK080233.1         2-839
            846-1321            AK080233.1         840-1315
            1322-1323           BE686800.1         7-8                 c
            1324-1324           AL603707.5         35930-35930         c
            1325-1328           BE686800.1         2-5                 c
FEATURES             Location/Qualifiers
     source          1..1328
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 42.86 cM"
     gene            1..1328
                     /gene="Mpdu1"
                     /gene_synonym="LEC35; SL15; Supl15h"
                     /note="mannose-P-dolichol utilization defect 1"
                     /db_xref="GeneID:24070"
                     /db_xref="MGI:MGI:1346040"
     exon            1..181
                     /gene="Mpdu1"
                     /gene_synonym="LEC35; SL15; Supl15h"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..822
                     /gene="Mpdu1"
                     /gene_synonym="LEC35; SL15; Supl15h"
                     /note="isoform 1 is encoded by transcript variant 1;
                     suppressor of Lec15 homolog (C.griseus);
                     mannose-P-dolichol utilization defect 1 protein;
                     suppressor of Lec15 and Lec35 glycosylation mutation
                     homolog"
                     /codon_start=1
                     /product="mannose-P-dolichol utilization defect 1 protein
                     isoform 1"
                     /protein_id="NP_036030.2"
                     /db_xref="CCDS:CCDS24903.1"
                     /db_xref="GeneID:24070"
                     /db_xref="MGI:MGI:1346040"
                     /translation="MAGEADGPFKGLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSK
                     GLGLGIVAGSLLVKLPQVFKLLGAKSAEGLSLQSVMLELVALTGTVVYSITNNFPFSS
                     WGEALFLTLQTVAICFLVMHYRGETVKGVAFLACYAMVLLALLSPLTPLAVVTLLQAS
                     NVPAVVVGKLLQAATNYRNGHTGQLSAITVFMLFGGSLARIFTSVQETGDPLMAGVFV
                     VSSLCNGLIAAQVLFYWNAKAPHKQKKEQ"
     exon            182..247
                     /gene="Mpdu1"
                     /gene_synonym="LEC35; SL15; Supl15h"
                     /inference="alignment:Splign:2.1.0"
     exon            248..380
                     /gene="Mpdu1"
                     /gene_synonym="LEC35; SL15; Supl15h"
                     /inference="alignment:Splign:2.1.0"
     exon            381..466
                     /gene="Mpdu1"
                     /gene_synonym="LEC35; SL15; Supl15h"
                     /inference="alignment:Splign:2.1.0"
     exon            467..585
                     /gene="Mpdu1"
                     /gene_synonym="LEC35; SL15; Supl15h"
                     /inference="alignment:Splign:2.1.0"
     exon            586..696
                     /gene="Mpdu1"
                     /gene_synonym="LEC35; SL15; Supl15h"
                     /inference="alignment:Splign:2.1.0"
     exon            697..1328
                     /gene="Mpdu1"
                     /gene_synonym="LEC35; SL15; Supl15h"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1291..1296
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mpdu1"
                     /gene_synonym="LEC35; SL15; Supl15h"
                     /note="hexamer: AATAAA"
     polyA_site      1323
                     /gene="Mpdu1"
                     /gene_synonym="LEC35; SL15; Supl15h"
                     /note="major polyA site"
ORIGIN      
        1 ggggtgtgcg cggcgcgcat gcgcggcgcg gataaatggc gggggttgtc ccgcctggcg
       61 gaagcttagc tttccaacat ggcgggggag gccgacgggc cgttcaaagg gctgctggtg
      121 ccaattcttt tacctgagaa atgttacgac cagctcttcg tgcaatggga cttgcttcat
      181 gttccctgcc tcaagattct cctcagcaaa ggcctcgggc tgggcatcgt ggctgggtca
      241 cttctcgtca agctgcccca ggtatttaaa ctcttgggag ccaagagtgc agaaggactg
      301 agtctccagt cagtaatgct ggagctagtg gcactgaccg gaaccgtggt ctacagcatc
      361 accaacaact tccccttcag ctcttggggt gaagcgctgt tcctgacact ccagaccgtt
      421 gccatctgct tcctggtcat gcactacaga ggagagaccg tgaaaggagt cgctttcctt
      481 gcctgctatg ccatggtcct gctggcgctg ctctccccgc tcacgcctct ggctgtagtc
      541 actctgctcc aggcctccaa tgtacctgcc gtggtggtgg ggaagttgct tcaggcagcc
      601 actaactacc gcaacggaca cacaggccag ctttcagcca ttacagtgtt tatgctgttt
      661 gggggctcct tggcccgaat cttcacttct gttcaggaaa ctggagaccc cctcatggct
      721 ggagtctttg tggtctcttc tctctgcaat ggcctcattg ctgcccaggt cctcttctac
      781 tggaacgcaa aggctcccca caaacagaaa aaggagcaat agagctgagc tcgcttctag
      841 aacaattcca tttccactca tcctcagagt cctccccaca tgacttgatc tgcgggtgca
      901 gtgtaagcac cctccattcc tctaactgca gcctcctgag ccagggttgt gggagcagta
      961 aagcttgtgt aggccctgcc ttcactcact cacttcccca gatccctcct tgtgagcagc
     1021 tggtttactg gagcagatgc tctggccctg tccacttacc ttccttttgg accaaggaca
     1081 gagcctagaa aactgtggtt ggaagctagt ggctgcttcc ctgtgctgcc cgggtgggat
     1141 ggtctattgg agcccagttc tgggggtgag ggagagtgac tcagataagg gccctggggt
     1201 tgggtgggga ggttcctgcc gaggcaggtc ctggcggaag ggtgtgtgaa ggcgctggtt
     1261 gctgctgtag ggagagaata caaatgggac aataaaagac tccgaaacat ggttttaatt
     1321 gtacaaaa
//
