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UniProtKB - Q9Y5P6 (GMPPB_HUMAN)

Protein

Mannose-1-phosphate guanyltransferase beta

Gene

GMPPB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids.By similarity

Catalytic activityi

GTP + alpha-D-mannose 1-phosphate = diphosphate + GDP-mannose.By similarity

Pathwayi: GDP-alpha-D-mannose biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route).By similarity
Proteins known to be involved in this subpathway in this organism are:
  1. Mannose-1-phosphate guanyltransferase beta (GMPPB)
This subpathway is part of the pathway GDP-alpha-D-mannose biosynthesis, which is itself part of Nucleotide-sugar biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route), the pathway GDP-alpha-D-mannose biosynthesis and in Nucleotide-sugar biosynthesis.

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • GDP-mannose biosynthetic process Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionNucleotidyltransferase, Transferase
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-446205 Synthesis of GDP-mannose
UniPathwayi
UPA00126;UER00930

Names & Taxonomyi

Protein namesi
Recommended name:
Mannose-1-phosphate guanyltransferase beta (EC:2.7.7.13By similarity)
Alternative name(s):
GDP-mannose pyrophosphorylase B
GTP-mannose-1-phosphate guanylyltransferase beta
Gene namesi
Name:GMPPBImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000173540.12
HGNCiHGNC:22932 GMPPB
MIMi615320 gene
neXtProtiNX_Q9Y5P6

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction.
See also OMIM:615350
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070148334D → N in MDDGA14; causes protein aggregation. 1 PublicationCorresponds to variant dbSNP:rs397509422EnsemblClinVar.1
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia.
See also OMIM:615351
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07014432P → L in MDDGB14; causes protein aggregation. 1 PublicationCorresponds to variant dbSNP:rs397509426EnsemblClinVar.1
Natural variantiVAR_070145185R → C in MDDGB14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs397509425EnsemblClinVar.1
Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures.
See also OMIM:615352
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07014222P → S in MDDGC14; causes protein aggregation. 3 PublicationsCorresponds to variant dbSNP:rs397509424EnsemblClinVar.1
Natural variantiVAR_07014327D → H in MDDGC14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs142336618EnsemblClinVar.1
Natural variantiVAR_07976132P → S in MDDGC14. 1 Publication1
Natural variantiVAR_079762132S → C in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs145535498Ensembl.1
Natural variantiVAR_079763219I → T in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs761714818Ensembl.1
Natural variantiVAR_079764241P → S in MDDGC14. 1 Publication1
Natural variantiVAR_079765254V → M in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs875989850EnsemblClinVar.1
Natural variantiVAR_079766287R → W in MDDGC14. 2 PublicationsCorresponds to variant dbSNP:rs142908436EnsemblClinVar.1
Natural variantiVAR_079767293R → W in MDDGC14; slight reduction in protein abundance. 1 PublicationCorresponds to variant dbSNP:rs756682220EnsemblClinVar.1
Natural variantiVAR_079768318V → A in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs559784211Ensembl.1
Natural variantiVAR_079769322N → K in MDDGC14; no change in protein abundance. 1 PublicationCorresponds to variant dbSNP:rs781114909Ensembl.1
Natural variantiVAR_070147330V → I in MDDGC14; causes protein aggregation. 2 PublicationsCorresponds to variant dbSNP:rs199922550Ensembl.1
Natural variantiVAR_079770340G → R in MDDGC14; slight reduction in protein abundance; shows an increased propensity to form punctate aggregates. 1 PublicationCorresponds to variant dbSNP:rs1064796834Ensembl.1
Natural variantiVAR_079771357R → H in MDDGC14; no change in protein abundance; shows an increased propensity to form punctate aggregates. 1 PublicationCorresponds to variant dbSNP:rs771861177Ensembl.1

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNETi29925
MalaCardsiGMPPB
MIMi615350 phenotype
615351 phenotype
615352 phenotype
OpenTargetsiENSG00000173540
Orphaneti363623 Autosomal recessive limb-girdle muscular dystrophy type 2T
370959 Congenital muscular dystrophy with cerebellar involvement
370968 Congenital muscular dystrophy with intellectual disability
353327 Congenital myasthenic syndromes with glycosylation defect
588 Muscle-eye-brain disease
PharmGKBiPA134875590

Polymorphism and mutation databases

BioMutaiGMPPB
DMDMi160013885

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003071621 – 360Mannose-1-phosphate guanyltransferase betaAdd BLAST360

Proteomic databases

EPDiQ9Y5P6
PeptideAtlasiQ9Y5P6
PRIDEiQ9Y5P6
ProteomicsDBi86466
86467 [Q9Y5P6-2]

PTM databases

iPTMnetiQ9Y5P6
PhosphoSitePlusiQ9Y5P6

Expressioni

Gene expression databases

BgeeiENSG00000173540 Expressed in 127 organ(s), highest expression level in right lobe of liver
CleanExiHS_GMPPB
ExpressionAtlasiQ9Y5P6 baseline and differential
GenevisibleiQ9Y5P6 HS

Organism-specific databases

HPAiHPA014657

Interactioni

Subunit structurei

Associates with GMPPA.By similarity

Binary interactionsi

Protein-protein interaction databases

BioGridi118966, 40 interactors
IntActiQ9Y5P6, 6 interactors

Structurei

3D structure databases

ProteinModelPortaliQ9Y5P6
SMRiQ9Y5P6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the transferase hexapeptide repeat family.Curated

Phylogenomic databases

GeneTreeiENSGT00530000063581
HOGENOMiHOG000283479
HOVERGENiHBG107955
InParanoidiQ9Y5P6
KOiK00966
OMAiHIRSHSW
PhylomeDBiQ9Y5P6
TreeFamiTF300718

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR001451 Hexapep
IPR018357 Hexapep_transf_CS
IPR005835 NTP_transferase_dom
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF00132 Hexapep, 1 hit
PF00483 NTP_transferase, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit
PROSITEiView protein in PROSITE
PS00101 HEXAPEP_TRANSFERASES, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9Y5P6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKALILVGGY GTRLRPLTLS TPKPLVDFCN KPILLHQVEA LAAAGVDHVI 
        60         70         80         90        100
LAVSYMSQVL EKEMKAQEQR LGIRISMSHE EEPLGTAGPL ALARDLLSET 
       110        120        130        140        150
ADPFFVLNSD VICDFPFQAM VQFHRHHGQE GSILVTKVEE PSKYGVVVCE 
       160        170        180        190        200
ADTGRIHRFV EKPQVFVSNK INAGMYILSP AVLQRIQLQP TSIEKEVFPI 
       210        220        230        240        250
MAKEGQLYAM ELQGFWMDIG QPKDFLTGMC LFLQSLRQKQ PERLCSGPGI 
       260        270        280        290        300
VGNVLVDPSA RIGQNCSIGP NVSLGPGVVV EDGVCIRRCT VLRDARIRSH 
       310        320        330        340        350
SWLESCIVGW RCRVGQWVRM ENVTVLGEDV IVNDELYLNG ASVLPHKSIG 
       360
ESVPEPRIIM
Length:360
Mass (Da):39,834
Last modified:October 23, 2007 - v2
Checksum:i8212C77BBB2EF960
GO
Isoform 2 (identifier: Q9Y5P6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     317-317: W → WVSLWAGLGGERGGECACLPDKAYPLLE

Show »
Length:387
Mass (Da):42,622
Checksum:iE6F568BDB5D1BF1D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07014222P → S in MDDGC14; causes protein aggregation. 3 PublicationsCorresponds to variant dbSNP:rs397509424EnsemblClinVar.1
Natural variantiVAR_07014327D → H in MDDGC14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs142336618EnsemblClinVar.1
Natural variantiVAR_07014432P → L in MDDGB14; causes protein aggregation. 1 PublicationCorresponds to variant dbSNP:rs397509426EnsemblClinVar.1
Natural variantiVAR_07976132P → S in MDDGC14. 1 Publication1
Natural variantiVAR_035372126H → D. Corresponds to variant dbSNP:rs34345884EnsemblClinVar.1
Natural variantiVAR_079762132S → C in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs145535498Ensembl.1
Natural variantiVAR_035373184Q → R3 PublicationsCorresponds to variant dbSNP:rs1466685Ensembl.1
Natural variantiVAR_070145185R → C in MDDGB14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs397509425EnsemblClinVar.1
Natural variantiVAR_079763219I → T in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs761714818Ensembl.1
Natural variantiVAR_079764241P → S in MDDGC14. 1 Publication1
Natural variantiVAR_079765254V → M in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs875989850EnsemblClinVar.1
Natural variantiVAR_070146287R → Q in MDDGB14 and MDDGC14. 2 PublicationsCorresponds to variant dbSNP:rs202160208EnsemblClinVar.1
Natural variantiVAR_079766287R → W in MDDGC14. 2 PublicationsCorresponds to variant dbSNP:rs142908436EnsemblClinVar.1
Natural variantiVAR_079767293R → W in MDDGC14; slight reduction in protein abundance. 1 PublicationCorresponds to variant dbSNP:rs756682220EnsemblClinVar.1
Natural variantiVAR_079768318V → A in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs559784211Ensembl.1
Natural variantiVAR_079769322N → K in MDDGC14; no change in protein abundance. 1 PublicationCorresponds to variant dbSNP:rs781114909Ensembl.1
Natural variantiVAR_070147330V → I in MDDGC14; causes protein aggregation. 2 PublicationsCorresponds to variant dbSNP:rs199922550Ensembl.1
Natural variantiVAR_070148334D → N in MDDGA14; causes protein aggregation. 1 PublicationCorresponds to variant dbSNP:rs397509422EnsemblClinVar.1
Natural variantiVAR_079770340G → R in MDDGC14; slight reduction in protein abundance; shows an increased propensity to form punctate aggregates. 1 PublicationCorresponds to variant dbSNP:rs1064796834Ensembl.1
Natural variantiVAR_079771357R → H in MDDGC14; no change in protein abundance; shows an increased propensity to form punctate aggregates. 1 PublicationCorresponds to variant dbSNP:rs771861177Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_028619317W → WVSLWAGLGGERGGECACLP DKAYPLLE in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF135421 mRNA Translation: AAD38516.1
AK024319 mRNA Translation: BAB14882.1
AK291700 mRNA Translation: BAF84389.1
AC099668 Genomic DNA No translation available.
BC001141 mRNA Translation: AAH01141.1
BC008033 mRNA Translation: AAH08033.1
CCDSiCCDS2802.1 [Q9Y5P6-2]
CCDS2803.1 [Q9Y5P6-1]
RefSeqiNP_037466.2, NM_013334.3
NP_068806.1, NM_021971.2
UniGeneiHs.567488

Genome annotation databases

EnsembliENST00000308375; ENSP00000309092; ENSG00000173540 [Q9Y5P6-2]
ENST00000308388; ENSP00000311130; ENSG00000173540 [Q9Y5P6-1]
ENST00000480687; ENSP00000418565; ENSG00000173540 [Q9Y5P6-1]
GeneIDi29925
KEGGihsa:29925
UCSCiuc003cxk.3 human [Q9Y5P6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF135421 mRNA Translation: AAD38516.1
AK024319 mRNA Translation: BAB14882.1
AK291700 mRNA Translation: BAF84389.1
AC099668 Genomic DNA No translation available.
BC001141 mRNA Translation: AAH01141.1
BC008033 mRNA Translation: AAH08033.1
CCDSiCCDS2802.1 [Q9Y5P6-2]
CCDS2803.1 [Q9Y5P6-1]
RefSeqiNP_037466.2, NM_013334.3
NP_068806.1, NM_021971.2
UniGeneiHs.567488

3D structure databases

ProteinModelPortaliQ9Y5P6
SMRiQ9Y5P6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118966, 40 interactors
IntActiQ9Y5P6, 6 interactors

PTM databases

iPTMnetiQ9Y5P6
PhosphoSitePlusiQ9Y5P6

Polymorphism and mutation databases

BioMutaiGMPPB
DMDMi160013885

Proteomic databases

EPDiQ9Y5P6
PeptideAtlasiQ9Y5P6
PRIDEiQ9Y5P6
ProteomicsDBi86466
86467 [Q9Y5P6-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308375; ENSP00000309092; ENSG00000173540 [Q9Y5P6-2]
ENST00000308388; ENSP00000311130; ENSG00000173540 [Q9Y5P6-1]
ENST00000480687; ENSP00000418565; ENSG00000173540 [Q9Y5P6-1]
GeneIDi29925
KEGGihsa:29925
UCSCiuc003cxk.3 human [Q9Y5P6-1]

Organism-specific databases

CTDi29925
DisGeNETi29925
EuPathDBiHostDB:ENSG00000173540.12
GeneCardsiGMPPB
HGNCiHGNC:22932 GMPPB
HPAiHPA014657
MalaCardsiGMPPB
MIMi615320 gene
615350 phenotype
615351 phenotype
615352 phenotype
neXtProtiNX_Q9Y5P6
OpenTargetsiENSG00000173540
Orphaneti363623 Autosomal recessive limb-girdle muscular dystrophy type 2T
370959 Congenital muscular dystrophy with cerebellar involvement
370968 Congenital muscular dystrophy with intellectual disability
353327 Congenital myasthenic syndromes with glycosylation defect
588 Muscle-eye-brain disease
PharmGKBiPA134875590
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00530000063581
HOGENOMiHOG000283479
HOVERGENiHBG107955
InParanoidiQ9Y5P6
KOiK00966
OMAiHIRSHSW
PhylomeDBiQ9Y5P6
TreeFamiTF300718

Enzyme and pathway databases

UniPathwayi
UPA00126;UER00930

ReactomeiR-HSA-446205 Synthesis of GDP-mannose

Miscellaneous databases

ChiTaRSiGMPPB human
GeneWikiiGMPPB
GenomeRNAii29925
PROiPR:Q9Y5P6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173540 Expressed in 127 organ(s), highest expression level in right lobe of liver
CleanExiHS_GMPPB
ExpressionAtlasiQ9Y5P6 baseline and differential
GenevisibleiQ9Y5P6 HS

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR001451 Hexapep
IPR018357 Hexapep_transf_CS
IPR005835 NTP_transferase_dom
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF00132 Hexapep, 1 hit
PF00483 NTP_transferase, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit
PROSITEiView protein in PROSITE
PS00101 HEXAPEP_TRANSFERASES, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGMPPB_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5P6
Secondary accession number(s): A8K6N5, Q9H7U3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 23, 2007
Last modified: November 7, 2018
This is version 156 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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