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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
 
 
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