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Protein

Mannose-6-phosphate isomerase

Gene

MPI

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

Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

<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 ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

<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 alpha-D-mannose 1-phosphate from D-fructose 6-phosphate.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Mannose-6-phosphate isomerase (MPI), Mannose-6-phosphate isomerase (MPI), Mannose-6-phosphate isomerase, Mannose-6-phosphate isomerase (MPI), Mannose-6-phosphate isomerase (MPI)
  2. Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase, Phosphomannomutase, Phosphomannomutase, Phosphomannomutase, Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase, Phosphomannomutase (PMM2), Phosphomannomutase, Phosphomannomutase (PMM2), Phosphomannomutase (PMM1), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase 2 (PMM2), Phosphomannomutase 1 (PMM1)
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 alpha-D-mannose 1-phosphate from D-fructose 6-phosphate, the pathway GDP-alpha-D-mannose biosynthesis and in Nucleotide-sugar biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi110ZincBy similarity1
Metal bindingi112ZincBy similarity1
Metal bindingi137ZincBy similarity1
Metal bindingi276ZincBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei295By similarity1

<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

GO - Biological processi

<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 functionIsomerase
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-4043916 Defective MPI causes MPI-CDG (CDG-1b)
R-HSA-446205 Synthesis of GDP-mannose

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

More...
UniPathwayi
UPA00126;UER00423

<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-6-phosphate isomerase (EC:5.3.1.8)
Alternative name(s):
Phosphohexomutase
Phosphomannose isomerase
Short name:
PMI
<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:MPI
Synonyms:PMI1
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000178802.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7216 MPI

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
154550 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P34949

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Congenital disorder of glycosylation 1B (CDG1B)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy.
See also OMIM:602579
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_02251651M → T in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs764835081Ensembl.1
Natural variantiVAR_012338102S → L in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs104894494EnsemblClinVar.1
Natural variantiVAR_022517129Y → C in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs887249336Ensembl.1
Natural variantiVAR_022518131D → N in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs566620411Ensembl.1
Natural variantiVAR_012339138M → T in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs104894495EnsemblClinVar.1
Natural variantiVAR_012345140I → T in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs773678732Ensembl.1
Natural variantiVAR_022519152R → Q in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs766458792Ensembl.1
Natural variantiVAR_012340219R → Q in CDG1B. 2 PublicationsCorresponds to variant dbSNP:rs104894489EnsemblClinVar.1
Natural variantiVAR_022520250G → S in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs748090636EnsemblClinVar.1
Natural variantiVAR_022521255Y → C in CDG1B. 1 Publication1
Natural variantiVAR_022522295R → H in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs28928906EnsemblClinVar.1
Natural variantiVAR_022523398I → T in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs369326210Ensembl.1
Natural variantiVAR_022524418R → H in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs863225087EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
4351

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

More...
GeneReviewsi
MPI

MalaCards human disease database

More...
MalaCardsi
MPI
MIMi602579 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000178802

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

More...
Orphaneti
79319 MPI-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30922

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2758

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MPI

Domain mapping of disease mutations (DMDM)

More...
DMDMi
462567

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00001942352 – 423Mannose-6-phosphate isomeraseAdd BLAST422

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei102PhosphoserineCombined sources1
Modified residuei108PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P34949

MaxQB - The MaxQuant DataBase

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MaxQBi
P34949

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P34949

PeptideAtlas

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PeptideAtlasi
P34949

PRoteomics IDEntifications database

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PRIDEi
P34949

ProteomicsDB human proteome resource

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ProteomicsDBi
54959
54960 [P34949-2]

2D gel databases

USC-OGP 2-DE database

More...
OGPi
P34949

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P34949

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

More...
PhosphoSitePlusi
P34949

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in all tissues, but more abundant in heart, brain and skeletal muscle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000178802 Expressed in 193 organ(s), highest expression level in heart left ventricle

CleanEx database of gene expression profiles

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CleanExi
HS_MPI

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P34949 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P34949 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA007200

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110491, 21 interactors

Protein interaction database and analysis system

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IntActi
P34949, 2 interactors

Molecular INTeraction database

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MINTi
P34949

STRING: functional protein association networks

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STRINGi
9606.ENSP00000318318

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P34949

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P34949

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

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SMRi
P34949

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2757 Eukaryota
COG1482 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000016075

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000241277

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000367

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P34949

KEGG Orthology (KO)

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KOi
K01809

Identification of Orthologs from Complete Genome Data

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OMAi
CADQPLS

Database of Orthologous Groups

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OrthoDBi
EOG091G078D

Database for complete collections of gene phylogenies

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PhylomeDBi
P34949

TreeFam database of animal gene trees

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TreeFami
TF312831

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.120.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001250 Man6P_Isoase-1
IPR016305 Mannose-6-P_Isomerase
IPR018050 Pmannose_isomerase-type1_CS
IPR014710 RmlC-like_jellyroll
IPR011051 RmlC_Cupin_sf

The PANTHER Classification System

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PANTHERi
PTHR10309 PTHR10309, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01238 PMI_typeI, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF001480 Mannose-6-phosphate_isomerase, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00714 MAN6PISMRASE

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51182 SSF51182, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00218 manA, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00965 PMI_I_1, 1 hit
PS00966 PMI_I_2, 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>.<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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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

This entry has 2 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P34949-1) [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
MAAPRVFPLS CAVQQYAWGK MGSNSEVARL LASSDPLAQI AEDKPYAELW
60 70 80 90 100
MGTHPRGDAK ILDNRISQKT LSQWIAENQD SLGSKVKDTF NGNLPFLFKV
110 120 130 140 150
LSVETPLSIQ AHPNKELAEK LHLQAPQHYP DANHKPEMAI ALTPFQGLCG
160 170 180 190 200
FRPVEEIVTF LKKVPEFQFL IGDEAATHLK QTMSHDSQAV ASSLQSCFSH
210 220 230 240 250
LMKSEKKVVV EQLNLLVKRI SQQAAAGNNM EDIFGELLLQ LHQQYPGDIG
260 270 280 290 300
CFAIYFLNLL TLKPGEAMFL EANVPHAYLK GDCVECMACS DNTVRAGLTP
310 320 330 340 350
KFIDVPTLCE MLSYTPSSSK DRLFLPTRSQ EDPYLSIYDP PVPDFTIMKT
360 370 380 390 400
EVPGSVTEYK VLALDSASIL LMVQGTVIAS TPTTQTPIPL QRGGVLFIGA
410 420
NESVSLKLTE PKDLLIFRAC CLL
Length:423
Mass (Da):46,656
Last modified:January 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:i1612DD966B86D3AC
GO
Isoform 2 (identifier: P34949-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     163-224: KVPEFQFLIGDEAATHLKQTMSHDSQAVASSLQSCFSHLMKSEKKVVVEQLNLLVKRISQQA → T

Note: No experimental confirmation available.
Show »
Length:362
Mass (Da):39,834
Checksum:i58CA9B39BF20C459
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BPB8H3BPB8_HUMAN
Mannose-6-phosphate isomerase
MPI hCG_2006995
403Annotation score:

Annotation score:2 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>
F5GX71F5GX71_HUMAN
Mannose-6-phosphate isomerase
MPI
373Annotation score:

Annotation score:2 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>
H3BP57H3BP57_HUMAN
Mannose-6-phosphate isomerase
MPI
288Annotation score:

Annotation score:2 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>
H3BUZ9H3BUZ9_HUMAN
Mannose-6-phosphate isomerase
MPI
339Annotation score:

Annotation score:2 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>
H3BPP3H3BPP3_HUMAN
Mannose-6-phosphate isomerase
MPI
287Annotation score:

Annotation score:1 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>
H3BNY8H3BNY8_HUMAN
Mannose-6-phosphate isomerase
MPI
185Annotation score:

Annotation score:1 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>
H3BN01H3BN01_HUMAN
Mannose-6-phosphate isomerase
MPI
174Annotation score:

Annotation score:1 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>
H3BPM5H3BPM5_HUMAN
Mannose-6-phosphate isomerase
MPI
173Annotation score:

Annotation score:1 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>
H3BT48H3BT48_HUMAN
Mannose-6-phosphate isomerase
MPI
319Annotation score:

Annotation score:1 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>
B4DYB8B4DYB8_HUMAN
Mannose-6-phosphate isomerase
MPI
228Annotation score:

Annotation score:1 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>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02251651M → T in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs764835081Ensembl.1
Natural variantiVAR_012338102S → L in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs104894494EnsemblClinVar.1
Natural variantiVAR_022517129Y → C in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs887249336Ensembl.1
Natural variantiVAR_022518131D → N in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs566620411Ensembl.1
Natural variantiVAR_012339138M → T in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs104894495EnsemblClinVar.1
Natural variantiVAR_012345140I → T in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs773678732Ensembl.1
Natural variantiVAR_022519152R → Q in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs766458792Ensembl.1
Natural variantiVAR_012340219R → Q in CDG1B. 2 PublicationsCorresponds to variant dbSNP:rs104894489EnsemblClinVar.1
Natural variantiVAR_022520250G → S in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs748090636EnsemblClinVar.1
Natural variantiVAR_022521255Y → C in CDG1B. 1 Publication1
Natural variantiVAR_022522295R → H in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs28928906EnsemblClinVar.1
Natural variantiVAR_022523398I → T in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs369326210Ensembl.1
Natural variantiVAR_022524418R → H in CDG1B. 1 PublicationCorresponds to variant dbSNP:rs863225087EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_013357163 – 224KVPEF…ISQQA → T in isoform 2. 1 PublicationAdd BLAST62

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X76057 mRNA Translation: CAA53657.1
AF227218, AF227216, AF227217 Genomic DNA Translation: AAF37697.1
AK292374 mRNA Translation: BAF85063.1
CH471136 Genomic DNA Translation: EAW99296.1
BC017351 mRNA Translation: AAH17351.1
BC046357 mRNA Translation: AAH46357.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10272.1 [P34949-1]
CCDS73757.1 [P34949-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
S41122

NCBI Reference Sequences

More...
RefSeqi
NP_001276085.1, NM_001289156.1
NP_001276086.1, NM_001289157.1 [P34949-2]
NP_002426.1, NM_002435.2 [P34949-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.75694

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000323744; ENSP00000318192; ENSG00000178802 [P34949-2]
ENST00000352410; ENSP00000318318; ENSG00000178802 [P34949-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
4351

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4351

UCSC genome browser

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UCSCi
uc002azc.3 human [P34949-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
X76057 mRNA Translation: CAA53657.1
AF227218, AF227216, AF227217 Genomic DNA Translation: AAF37697.1
AK292374 mRNA Translation: BAF85063.1
CH471136 Genomic DNA Translation: EAW99296.1
BC017351 mRNA Translation: AAH17351.1
BC046357 mRNA Translation: AAH46357.1
CCDSiCCDS10272.1 [P34949-1]
CCDS73757.1 [P34949-2]
PIRiS41122
RefSeqiNP_001276085.1, NM_001289156.1
NP_001276086.1, NM_001289157.1 [P34949-2]
NP_002426.1, NM_002435.2 [P34949-1]
UniGeneiHs.75694

3D structure databases

ProteinModelPortaliP34949
SMRiP34949
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110491, 21 interactors
IntActiP34949, 2 interactors
MINTiP34949
STRINGi9606.ENSP00000318318

Chemistry databases

BindingDBiP34949
ChEMBLiCHEMBL2758

PTM databases

iPTMnetiP34949
PhosphoSitePlusiP34949

Polymorphism and mutation databases

BioMutaiMPI
DMDMi462567

2D gel databases

OGPiP34949

Proteomic databases

EPDiP34949
MaxQBiP34949
PaxDbiP34949
PeptideAtlasiP34949
PRIDEiP34949
ProteomicsDBi54959
54960 [P34949-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4351
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323744; ENSP00000318192; ENSG00000178802 [P34949-2]
ENST00000352410; ENSP00000318318; ENSG00000178802 [P34949-1]
GeneIDi4351
KEGGihsa:4351
UCSCiuc002azc.3 human [P34949-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4351
DisGeNETi4351
EuPathDBiHostDB:ENSG00000178802.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MPI
GeneReviewsiMPI
HGNCiHGNC:7216 MPI
HPAiHPA007200
MalaCardsiMPI
MIMi154550 gene
602579 phenotype
neXtProtiNX_P34949
OpenTargetsiENSG00000178802
Orphaneti79319 MPI-CDG
PharmGKBiPA30922

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2757 Eukaryota
COG1482 LUCA
GeneTreeiENSGT00390000016075
HOGENOMiHOG000241277
HOVERGENiHBG000367
InParanoidiP34949
KOiK01809
OMAiCADQPLS
OrthoDBiEOG091G078D
PhylomeDBiP34949
TreeFamiTF312831

Enzyme and pathway databases

UniPathwayi
UPA00126;UER00423

ReactomeiR-HSA-4043916 Defective MPI causes MPI-CDG (CDG-1b)
R-HSA-446205 Synthesis of GDP-mannose

Miscellaneous databases

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

More...
GenomeRNAii
4351

Protein Ontology

More...
PROi
PR:P34949

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000178802 Expressed in 193 organ(s), highest expression level in heart left ventricle
CleanExiHS_MPI
ExpressionAtlasiP34949 baseline and differential
GenevisibleiP34949 HS

Family and domain databases

Gene3Di2.60.120.10, 2 hits
InterProiView protein in InterPro
IPR001250 Man6P_Isoase-1
IPR016305 Mannose-6-P_Isomerase
IPR018050 Pmannose_isomerase-type1_CS
IPR014710 RmlC-like_jellyroll
IPR011051 RmlC_Cupin_sf
PANTHERiPTHR10309 PTHR10309, 1 hit
PfamiView protein in Pfam
PF01238 PMI_typeI, 1 hit
PIRSFiPIRSF001480 Mannose-6-phosphate_isomerase, 1 hit
PRINTSiPR00714 MAN6PISMRASE
SUPFAMiSSF51182 SSF51182, 1 hit
TIGRFAMsiTIGR00218 manA, 1 hit
PROSITEiView protein in PROSITE
PS00965 PMI_I_1, 1 hit
PS00966 PMI_I_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiMPI_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: P34949
Secondary accession number(s): A8K8K9, Q96AB0
<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: February 1, 1994
Last sequence update: January 23, 2007
Last modified: December 5, 2018
This is version 193 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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