GMPPB_DANRE
ID GMPPB_DANRE Reviewed; 360 AA.
AC Q6DBU5;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 16-AUG-2004, sequence version 1.
DT 03-AUG-2022, entry version 95.
DE RecName: Full=Mannose-1-phosphate guanyltransferase beta;
DE EC=2.7.7.13 {ECO:0000250|UniProtKB:P0C5I2};
DE AltName: Full=GDP-mannose pyrophosphorylase B;
DE AltName: Full=GTP-mannose-1-phosphate guanylyltransferase beta;
GN Name=gmppb; ORFNames=zgc:92026;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX PubMed=23768512; DOI=10.1016/j.ajhg.2013.05.009;
RG UK10K Consortium;
RA Carss K.J., Stevens E., Foley A.R., Cirak S., Riemersma M., Torelli S.,
RA Hoischen A., Willer T., van Scherpenzeel M., Moore S.A., Messina S.,
RA Bertini E., Boennemann C.G., Abdenur J.E., Grosmann C.M., Kesari A.,
RA Punetha J., Quinlivan R., Waddell L.B., Young H.K., Wraige E., Yau S.,
RA Brodd L., Feng L., Sewry C., MacArthur D.G., North K.N., Hoffman E.,
RA Stemple D.L., Hurles M.E., van Bokhoven H., Campbell K.P., Lefeber D.J.,
RA Lin Y.Y., Muntoni F.;
RT "Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-
RT girdle muscular dystrophies associated with hypoglycosylation of alpha-
RT dystroglycan.";
RL Am. J. Hum. Genet. 93:29-41(2013).
CC -!- FUNCTION: Catalyzes the formation of GDP-mannose, an essential
CC precursor of glycan moieties of glycoproteins and glycolipids.
CC {ECO:0000250|UniProtKB:P0C5I2}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=alpha-D-mannose 1-phosphate + GTP + H(+) = diphosphate + GDP-
CC alpha-D-mannose; Xref=Rhea:RHEA:15229, ChEBI:CHEBI:15378,
CC ChEBI:CHEBI:33019, ChEBI:CHEBI:37565, ChEBI:CHEBI:57527,
CC ChEBI:CHEBI:58409; EC=2.7.7.13;
CC Evidence={ECO:0000250|UniProtKB:P0C5I2};
CC -!- PATHWAY: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose
CC biosynthesis; GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP
CC route): step 1/1. {ECO:0000250|UniProtKB:P0C5I2}.
CC -!- DEVELOPMENTAL STAGE: Expressed throughout all stages of development.
CC {ECO:0000269|PubMed:23768512}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the gene results in
CC smaller embryos with multiple anomalies, including bent tails,
CC hypopigmentation, microphthalmia, hydrocephalus, and reduced motility.
CC Muscle fibers in mutant animals are sparse and disorganized, and the
CC myosepta are damaged or incompletely developed. There is also evidence
CC of sarcolemmal damage. Immunostaining shows defective glycosylation of
CC DAG1 associated with abnormal structure of the basement membrane.
CC {ECO:0000269|PubMed:23768512}.
CC -!- SIMILARITY: Belongs to the transferase hexapeptide repeat family.
CC {ECO:0000305}.
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DR EMBL; BC078357; AAH78357.1; -; mRNA.
DR AlphaFoldDB; Q6DBU5; -.
DR SMR; Q6DBU5; -.
DR STRING; 7955.ENSDARP00000022618; -.
DR PaxDb; Q6DBU5; -.
DR ZFIN; ZDB-GENE-040801-234; gmppb.
DR eggNOG; KOG1322; Eukaryota.
DR InParanoid; Q6DBU5; -.
DR PhylomeDB; Q6DBU5; -.
DR BRENDA; 2.7.7.13; 928.
DR UniPathway; UPA00126; UER00930.
DR PRO; PR:Q6DBU5; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Unplaced.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR GO; GO:0004475; F:mannose-1-phosphate guanylyltransferase activity; IBA:GO_Central.
DR GO; GO:0016779; F:nucleotidyltransferase activity; IBA:GO_Central.
DR GO; GO:0009298; P:GDP-mannose biosynthetic process; ISS:UniProtKB.
DR GO; GO:0006486; P:protein glycosylation; IMP:ZFIN.
DR CDD; cd06425; M1P_guanylylT_B_like_N; 1.
DR Gene3D; 3.90.550.10; -; 1.
DR InterPro; IPR045233; GMPPB_N.
DR InterPro; IPR001451; Hexapep.
DR InterPro; IPR018357; Hexapep_transf_CS.
DR InterPro; IPR005835; NTP_transferase_dom.
DR InterPro; IPR029044; Nucleotide-diphossugar_trans.
DR Pfam; PF00132; Hexapep; 1.
DR Pfam; PF00483; NTP_transferase; 1.
DR SUPFAM; SSF53448; SSF53448; 1.
DR PROSITE; PS00101; HEXAPEP_TRANSFERASES; 1.
PE 2: Evidence at transcript level;
KW GTP-binding; Nucleotide-binding; Nucleotidyltransferase;
KW Reference proteome; Transferase.
FT CHAIN 1..360
FT /note="Mannose-1-phosphate guanyltransferase beta"
FT /id="PRO_0000307165"
SQ SEQUENCE 360 AA; 40144 MW; 213D4CF3BA957615 CRC64;
MKALILVGGY GTRLRPLTLT VPKPLVEFCN KPILLHQVEA LVKAGVRHVI LAVSYMSELL
EREMRAQEQR LGIKISLSHE KEPLGTAGPL ALARELLTDN QEPFFVLNSD VICDFPFDDM
LKFHQQHGRE GTIVVTKVEE PSKYGVVVYE GDSGRIHRFV EKPQVFVSNK INAGMYIFSP
AMLRRIQLRP TSIEKEIFPV MAEEGQLYAM ELQGFWMDIG QPKDFLTGMC MYLQSVRQQA
PERLRAGPGF LGNVLVDPTA VIGQNCTIGP NVTIGAGVVL EDGVRVKRCT ILKGAHIRSH
SWLESCIVGW SSSVGQWVRM ENVTVLGEDV IVNDELYING ANVLPHKSIT DSVPEPRIIM