LOCUS       NM_013335               1522 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript
            variant 1, mRNA.
ACCESSION   NM_013335
VERSION     NM_013335.4
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 1522)
  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   2  (bases 1 to 1522)
  AUTHORS   Zheng,L., Liu,Z., Wang,Y., Yang,F., Wang,J., Huang,W., Qin,J.,
            Tian,M., Cai,X., Liu,X., Mo,X., Gao,N. and Jia,D.
  TITLE     Cryo-EM structures of human GMPPA-GMPPB complex reveal how cells
            maintain GDP-mannose homeostasis
  JOURNAL   Nat Struct Mol Biol 28 (5), 1-12 (2021)
   PUBMED   33986552
REFERENCE   3  (bases 1 to 1522)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1522)
  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   5  (bases 1 to 1522)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1522)
  AUTHORS   Gold,W.A., Sobreira,N., Wiame,E., Marbaix,A., Van Schaftingen,E.,
            Franzka,P., Riley,L.G., Worgan,L., Hubner,C.A., Christodoulou,J.
            and Ades,L.C.
  TITLE     A novel mutation in GMPPA in siblings with apparent intellectual
            disability, epilepsy, dysmorphism, and autonomic dysfunction
  JOURNAL   Am J Med Genet A 173 (8), 2246-2250 (2017)
   PUBMED   28574218
  REMARK    GeneRIF: Based on our findings and the previous report describing
            patients with an overlapping phenotype, we conclude that this novel
            variant in GMPPA, identified by exome sequencing in the proband and
            her affected sister, is the genetic cause of their phenotype and
            may expand the known phenotype of this recently described
            glycosylation disorder.
REFERENCE   7  (bases 1 to 1522)
  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   8  (bases 1 to 1522)
  AUTHORS   Koehler,K., Malik,M., Mahmood,S., Giesselmann,S., Beetz,C.,
            Hennings,J.C., Huebner,A.K., Grahn,A., Reunert,J., Nurnberg,G.,
            Thiele,H., Altmuller,J., Nurnberg,P., Mumtaz,R.,
            Babovic-Vuksanovic,D., Basel-Vanagaite,L., Borck,G., Bramswig,J.,
            Muhlenberg,R., Sarda,P., Sikiric,A., Anyane-Yeboa,K., Zeharia,A.,
            Ahmad,A., Coubes,C., Wada,Y., Marquardt,T., Vanderschaeghe,D., Van
            Schaftingen,E., Kurth,I., Huebner,A. and Hubner,C.A.
  TITLE     Mutations in GMPPA cause a glycosylation disorder characterized by
            intellectual disability and autonomic dysfunction
  JOURNAL   Am J Hum Genet 93 (4), 727-734 (2013)
   PUBMED   24035193
  REMARK    GeneRIF: GMPPA might serve as a GMPPB regulatory subunit mediating
            feedback inhibition of GMPPB instead of displaying catalytic enzyme
            activity itself.
REFERENCE   9  (bases 1 to 1522)
  AUTHORS   Ning,B. and Elbein,A.D.
  TITLE     Cloning, expression and characterization of the pig liver
            GDP-mannose pyrophosphorylase. Evidence that GDP-mannose and
            GDP-Glc pyrophosphorylases are different proteins
  JOURNAL   Eur J Biochem 267 (23), 6866-6874 (2000)
   PUBMED   11082198
REFERENCE   10 (bases 1 to 1522)
  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 AK000999.1, AC053503.7 and
            CN309976.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_013335.3.
            
            Summary: This gene is thought to encode a GDP-mannose
            pyrophosphorylase. This enzyme catalyzes the reaction which
            converts mannose-1-phosphate and GTP to GDP-mannose which is
            involved in the production of N-linked oligosaccharides. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) uses two different splice
            sites in the 5' UTR, compared to variant 2. Variants 1 and 2 encode
            the same protein.
            
            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 :: AK000999.1, SRR3476690.913094.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313597.10/ ENSP00000315925.6
            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
            1-420               AK000999.1         1-420
            421-497             AC053503.7         159765-159841
            498-557             AC053503.7         160186-160245
            558-688             AC053503.7         161887-162017
            689-823             AC053503.7         163032-163166
            824-921             AC053503.7         163262-163359
            922-968             AC053503.7         163519-163565
            969-1061            AC053503.7         163784-163876
            1062-1230           AC053503.7         164058-164226
            1231-1498           AC053503.7         164502-164769
            1499-1522           CN309976.1         274-297
FEATURES             Location/Qualifiers
     source          1..1522
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..1522
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /note="GDP-mannose pyrophosphorylase A"
                     /db_xref="GeneID:29926"
                     /db_xref="HGNC:HGNC:22923"
                     /db_xref="MIM:615495"
     exon            1..48
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     exon            49..108
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1331
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /EC_number="2.7.7.13"
                     /note="mannose-1-phosphate guanylyltransferase (GDP);
                     GTP-mannose-1-phosphate guanylyltransferase alpha;
                     GMPP-alpha; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="mannose-1-phosphate guanylyltransferase
                     regulatory subunit alpha"
                     /protein_id="NP_037467.2"
                     /db_xref="CCDS:CCDS2441.1"
                     /db_xref="GeneID:29926"
                     /db_xref="HGNC:HGNC:22923"
                     /db_xref="MIM:615495"
                     /translation="MLKAVILIGGPQKGTRFRPLSFEVPKPLFPVAGVPMIQHHIEAC
                     AQVPGMQEILLIGFYQPDEPLTQFLEAAQQEFNLPVRYLQEFAPLGTGGGLYHFRDQI
                     LAGSPEAFFVLNADVCSDFPLSAMLEAHRRQRHPFLLLGTTANRTQSLNYGCIVENPQ
                     THEVLHYVEKPSTFISDIINCGIYLFSPEALKPLRDVFQRNQQDGQLEDSPGLWPGAG
                     TIRLEQDVFSALAGQGQIYVHLTDGIWSQIKSAGSALYASRLYLSRYQDTHPERLAKH
                     TPGGPWIRGNVYIHPTAKVAPSAVLGPNVSIGKGVTVGEGVRLRESIVLHGATLQEHT
                     CVLHSIVGWGSTVGRWARVEGTPSDPNPNDPRARMDSESLFKDGKLLPAITILGCRVR
                     IPAEVLILNSIVLPHKELSRSFTNQIIL"
     exon            109..206
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     exon            207..310
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     exon            311..497
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     exon            498..557
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     exon            558..688
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     exon            689..823
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     exon            824..921
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     exon            922..968
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1061
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     exon            1062..1230
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1522
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1501..1506
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /note="hexamer: AATAAA"
     polyA_site      1522
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /note="major polyA site"
ORIGIN      
        1 aggagcttgc agtagcgggc ggcagagctg gagtgaaggg agctagtgtt taggtagcag
       61 tcaccattat gctcaaagcg gtgatcctga ttggaggccc tcaaaaggga actcgcttca
      121 gacctttgtc ttttgaggtg cccaaaccat tgtttcctgt ggcaggggtc cctatgatcc
      181 aacaccatat tgaagcctgt gcccaggtcc ctggaatgca ggagattctg ctcattggct
      241 tctaccaacc tgatgagccc ctcacccagt tcctagaagc cgcccagcag gagtttaacc
      301 ttccagtcag gtacctgcag gaatttgccc ccctaggcac agggggtggt ctttaccatt
      361 ttcgagacca gatcctggct gggagccccg aggcattctt cgtgctcaat gctgatgtct
      421 gctccgactt ccccttgagt gctatgttgg aagcccaccg acgccagcgt caccctttct
      481 tactccttgg cactacggct aacaggacgc aatccctcaa ctacggctgc atcgttgaga
      541 atccacagac acacgaggta ttgcactatg tggagaaacc cagcacattt atcagtgaca
      601 tcatcaactg cggcatctac ctcttttctc ctgaagcctt gaagcctctt cgggatgtct
      661 tccagcgtaa tcagcaggat gggcaattgg aggactcacc aggcttgtgg ccaggggcag
      721 gtaccatccg cctagagcag gatgtgtttt cagccctggc agggcagggc cagatatacg
      781 tgcatctcac tgatggtatc tggagtcaga tcaagtccgc aggttcagcc ctctacgcct
      841 cccgcctcta cctgagccga taccaggaca ctcacccaga acggctggcc aagcacaccc
      901 cagggggccc atggatccga gggaatgtgt acatccaccc gaccgccaag gtggccccct
      961 cggctgtgct gggccccaac gtctccatcg ggaagggggt gaccgtgggt gagggtgtgc
     1021 ggctccggga gagcatcgtc ctccatggag ccactttgca ggagcacacg tgtgttctgc
     1081 atagcatcgt gggctggggg agcaccgtgg gacgctgggc ccgcgtggag ggtaccccca
     1141 gtgaccctaa ccccaacgat ccccgagccc gcatggacag tgagagcctc ttcaaggacg
     1201 ggaagctgct gcctgctatc accatcctgg gctgccgagt ccggatccct gccgaggtgc
     1261 tcatcctgaa ctcgattgtt ctgccacaca aggagctgag ccgaagcttc accaaccaga
     1321 tcatcctctg agtagggctg ccagaaggcc cccagctcct acccactccc cttgaggctg
     1381 ctgcctgctt ggccagcctc tgtccagaaa ggaccagaga aagccaggct ggatcgtcac
     1441 atgccgggga gcaatgtgga tggcctgggg actcctgggt tttctccctc ccgactccct
     1501 aataaacccc gtgaaccttg ga
//
