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UniProtKB - Q9Y5P6 (GMPPB_HUMAN)

Entry version 165 (16 Oct 2019)
Sequence version 2 (23 Oct 2007)
Previous versions | rss
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Protein

Mannose-1-phosphate guanyltransferase beta

Gene

GMPPB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionNucleotidyltransferase, Transferase
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-446205 Synthesis of GDP-mannose

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00126;UER00930

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GMPPBImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:22932 GMPPB

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615320 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y5P6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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.
Related information in OMIM
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
Natural variantiVAR_070146287R → Q in MDDGB14 and MDDGC14. 2 PublicationsCorresponds to variant dbSNP:rs202160208EnsemblClinVar.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.
Related information in OMIM
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_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_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

DisGeNET

More...DisGeNETi		29925

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		GMPPB

MalaCards human disease database

More...MalaCardsi		GMPPB
MIMi615350 phenotype
615351 phenotype
615352 phenotype

Open Targets

More...OpenTargetsi		ENSG00000173540

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		363623 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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134875590

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y5P6

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GMPPB

Domain mapping of disease mutations (DMDM)

More...DMDMi		160013885

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003071621 – 360Mannose-1-phosphate guanyltransferase betaAdd BLAST360

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y5P6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y5P6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y5P6

PeptideAtlas

More...PeptideAtlasi		Q9Y5P6

PRoteomics IDEntifications database

More...PRIDEi		Q9Y5P6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		86466 [Q9Y5P6-1]
86467 [Q9Y5P6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y5P6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y5P6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000173540 Expressed in 127 organ(s), highest expression level in right lobe of liver

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y5P6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y5P6 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA014657

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Associates with GMPPA.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		118966, 42 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y5P6, 11 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000309092

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9Y5P6

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the transferase hexapeptide repeat family.Curated

Phylogenomic databases

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158909

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000283479

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y5P6

KEGG Orthology (KO)

More...KOi		K00966

Identification of Orthologs from Complete Genome Data

More...OMAi		GMVDSTY

Database of Orthologous Groups

More...OrthoDBi		806744at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y5P6

TreeFam database of animal gene trees

More...TreeFami		TF300718

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.90.550.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001451 Hexapep
IPR018357 Hexapep_transf_CS
IPR005835 NTP_transferase_dom
IPR029044 Nucleotide-diphossugar_trans

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00132 Hexapep, 1 hit
PF00483 NTP_transferase, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53448 SSF53448, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00101 HEXAPEP_TRANSFERASES, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9Y5P6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_028619317W → WVSLWAGLGGERGGECACLP DKAYPLLE in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2802.1 [Q9Y5P6-2]
CCDS2803.1 [Q9Y5P6-1]

NCBI Reference Sequences

More...RefSeqi		NP_037466.2, NM_013334.3
NP_068806.1, NM_021971.2 [Q9Y5P6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000308375; ENSP00000309092; ENSG00000173540 [Q9Y5P6-2]
ENST00000308388; ENSP00000311130; ENSG00000173540 [Q9Y5P6-1]
ENST00000480687; ENSP00000418565; ENSG00000173540 [Q9Y5P6-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		29925

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:29925

UCSC genome browser

More...UCSCi		uc003cxk.3 human [Q9Y5P6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 [Q9Y5P6-1]

3D structure databases

SMRiQ9Y5P6
ModBaseiSearch...

Protein-protein interaction databases

BioGridi118966, 42 interactors
IntActiQ9Y5P6, 11 interactors
STRINGi9606.ENSP00000309092

PTM databases

iPTMnetiQ9Y5P6
PhosphoSitePlusiQ9Y5P6

Polymorphism and mutation databases

BioMutaiGMPPB
DMDMi160013885

Proteomic databases

EPDiQ9Y5P6
jPOSTiQ9Y5P6
MassIVEiQ9Y5P6
PeptideAtlasiQ9Y5P6
PRIDEiQ9Y5P6
ProteomicsDBi86466 [Q9Y5P6-1]
86467 [Q9Y5P6-2]

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

Comparative Toxicogenomics Database

More...CTDi		29925
DisGeNETi29925

GeneCards: human genes, protein and diseases

More...GeneCardsi		GMPPB
GeneReviewsiGMPPB
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

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

GeneTreeiENSGT00940000158909
HOGENOMiHOG000283479
InParanoidiQ9Y5P6
KOiK00966
OMAiGMVDSTY
OrthoDBi806744at2759
PhylomeDBiQ9Y5P6
TreeFamiTF300718

Enzyme and pathway databases

UniPathwayiUPA00126;UER00930
ReactomeiR-HSA-446205 Synthesis of GDP-mannose

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GMPPB human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GMPPB

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		29925
PharosiQ9Y5P6

Protein Ontology

More...PROi		PR:Q9Y5P6

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000173540 Expressed in 127 organ(s), highest expression level in right lobe of liver
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGMPPB_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y5P6
Secondary accession number(s): A8K6N5, Q9H7U3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 23, 2007
Last modified: October 16, 2019
This is version 165 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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