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Protein

Phosphomannomutase 2

Gene

PMM2

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

Functioni

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

Catalytic activityi

Alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.

Kineticsi

  1. KM=16 µM for alpha-D-mannose 1-phosphate1 Publication
  2. KM=13.5 µM for alpha-D-glucose 1-phosphate1 Publication

    Pathwayi: GDP-alpha-D-mannose biosynthesis

    This protein is involved in step 2 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 1 (PMM1), Phosphomannomutase 2 (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase, Phosphomannomutase (PMM2), Phosphomannomutase, Phosphomannomutase, Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase, Phosphomannomutase, Phosphomannomutase (PMM2), Phosphomannomutase, Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM1), Phosphomannomutase (PMM2)
    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
    Active sitei12NucleophileBy similarity1
    Active sitei14Proton donor/acceptorSequence analysis1
    Binding sitei21SubstrateBy similarity1
    Binding sitei123SubstrateBy similarity1
    Binding sitei134SubstrateBy similarity1
    Binding sitei141SubstrateBy similarity1
    Binding sitei179SubstrateBy similarity1
    Binding sitei181SubstrateBy similarity1

    GO - Molecular functioni

    • phosphomannomutase activity Source: GO_Central

    GO - Biological processi

    Keywordsi

    Molecular functionIsomerase

    Enzyme and pathway databases

    BRENDAi5.4.2.8 2681
    ReactomeiR-HSA-4043911 Defective PMM2 causes PMM2-CDG (CDG-1a)
    R-HSA-446205 Synthesis of GDP-mannose
    SABIO-RKiO15305
    UniPathwayi
    UPA00126;UER00424

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Phosphomannomutase 2 (EC:5.4.2.8)
    Short name:
    PMM 2
    Gene namesi
    Name:PMM2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 16

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000140650.11
    HGNCiHGNC:9115 PMM2
    MIMi601785 gene
    neXtProtiNX_O15305

    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

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 1A (CDG1A)14 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. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism.
    See also OMIM:212065
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0224699C → Y in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs104894532EnsemblClinVar.1
    Natural variantiVAR_02247011F → C in CDG1A. 2 Publications1
    Natural variantiVAR_02247115G → E in CDG1A. 1 Publication1
    Natural variantiVAR_02247220P → S in CDG1A; reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs949271895Ensembl.1
    Natural variantiVAR_02247332L → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs398123312EnsemblClinVar.1
    Natural variantiVAR_02247437Q → H in CDG1A; partial loss of activity. 1 Publication1
    Natural variantiVAR_00609344V → A in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs104894534EnsemblClinVar.1
    Natural variantiVAR_02256344V → L in CDG1A. 1 Publication1
    Natural variantiVAR_02247664Y → C in CDG1A. 1 Publication1
    Natural variantiVAR_00609465D → Y in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs104894527EnsemblClinVar.1
    Natural variantiVAR_02247767V → M in CDG1A. 2 Publications1
    Natural variantiVAR_02247869P → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs769648248EnsemblClinVar.1
    Natural variantiVAR_02247976Y → C in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs1440183322Ensembl.1
    Natural variantiVAR_02248093E → A in CDG1A. 1 Publication1
    Natural variantiVAR_006095101N → K in CDG1A. 1 Publication1
    Natural variantiVAR_022481103C → F in CDG1A. 2 Publications1
    Natural variantiVAR_012344104L → V in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs770458492EnsemblClinVar.1
    Natural variantiVAR_006096106Y → C in CDG1A. 1 Publication1
    Natural variantiVAR_006097108A → V in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs200503569EnsemblClinVar.1
    Natural variantiVAR_006098113P → L in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs80338700EnsemblClinVar.1
    Natural variantiVAR_006099117G → R in CDG1A; loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs104894530EnsemblClinVar.1
    Natural variantiVAR_006100119F → L in CDG1A; partial loss of activity. 5 PublicationsCorresponds to variant dbSNP:rs80338701EnsemblClinVar.1
    Natural variantiVAR_022482120I → T in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs368582085EnsemblClinVar.1
    Natural variantiVAR_006101123R → Q in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs141498002EnsemblClinVar.1
    Natural variantiVAR_006102129V → M in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs104894525EnsemblClinVar.1
    Natural variantiVAR_006103131P → A in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs1274547742Ensembl.1
    Natural variantiVAR_022483132I → F in CDG1A; slightly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs753632453Ensembl.1
    Natural variantiVAR_022484132I → N in CDG1A. 2 Publications1
    Natural variantiVAR_006104132I → T in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs80338702EnsemblClinVar.1
    Natural variantiVAR_009232139E → K in CDG1A; this mutation seems to disrupt a splicing enhancer sequence and thus results in most cases in a protein with exon 5 skipped; slightly reduced activity. 3 PublicationsCorresponds to variant dbSNP:rs80338703EnsemblClinVar.1
    Natural variantiVAR_022485141R → C in CDG1A; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs746610168EnsemblClinVar.1
    Natural variantiVAR_006105141R → H in CDG1A; frequent mutation; loss of activity; observed in heterozygous patients; homozygosis of this mutation is incompatible with life. 6 PublicationsCorresponds to variant dbSNP:rs28936415EnsemblClinVar.1
    Natural variantiVAR_022486144F → L in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs150719105EnsemblClinVar.1
    Natural variantiVAR_022487148D → N in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs148032587EnsemblClinVar.1
    Natural variantiVAR_022488151E → G in CDG1A. 1 Publication1
    Natural variantiVAR_022489153I → T in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs150577656EnsemblClinVar.1
    Natural variantiVAR_022490157F → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs190521996EnsemblClinVar.1
    Natural variantiVAR_006106162R → W in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs104894526EnsemblClinVar.1
    Natural variantiVAR_022491172F → V in CDG1A. 2 Publications1
    Natural variantiVAR_006107175G → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs941830625Ensembl.1
    Natural variantiVAR_022492176G → V in CDG1A; loss of activity. 1 Publication1
    Natural variantiVAR_022493177Q → H in CDG1A; partial loss of activity. 1 Publication1
    Natural variantiVAR_022494183F → S in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs780581250Ensembl.1
    Natural variantiVAR_022495185D → G in CDG1A. 2 Publications1
    Natural variantiVAR_006108188D → G in CDG1A; severe. 1 PublicationCorresponds to variant dbSNP:rs80338704EnsemblClinVar.1
    Natural variantiVAR_022496192C → G in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 3 Publications1
    Natural variantiVAR_022497195H → R in CDG1A. 1 Publication1
    Natural variantiVAR_022499206F → S in CDG1A. 1 Publication1
    Natural variantiVAR_006109208G → A in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs398123309EnsemblClinVar.1
    Natural variantiVAR_022500214G → S in CDG1A. 2 Publications1
    Natural variantiVAR_006110216N → I in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs78290141EnsemblClinVar.1
    Natural variantiVAR_022501216N → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs78290141EnsemblClinVar.1
    Natural variantiVAR_022502217D → E in CDG1A. 2 Publications1
    Natural variantiVAR_022503218H → L in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs80338705EnsemblClinVar.1
    Natural variantiVAR_006111223D → E in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 4 PublicationsCorresponds to variant dbSNP:rs104894531EnsemblClinVar.1
    Natural variantiVAR_022504223D → N in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs201960869Ensembl.1
    Natural variantiVAR_022505226T → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs80338706EnsemblClinVar.1
    Natural variantiVAR_022506228G → C in CDG1A. 1 Publication1
    Natural variantiVAR_022507228G → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs558826439Ensembl.1
    Natural variantiVAR_006112229Y → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs398123311EnsemblClinVar.1
    Natural variantiVAR_006113231V → M in CDG1A. 5 PublicationsCorresponds to variant dbSNP:rs80338707EnsemblClinVar.1
    Natural variantiVAR_006114233A → T in CDG1A; unknown pathological significance. 1 Publication1
    Natural variantiVAR_006115237T → M in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs80338708EnsemblClinVar.1
    Natural variantiVAR_022508237T → R in CDG1A; loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs80338708EnsemblClinVar.1
    Natural variantiVAR_022509238R → G in CDG1A. 1 Publication1
    Natural variantiVAR_006116238R → P in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs151319324Ensembl.1
    Natural variantiVAR_022510241C → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs80338709EnsemblClinVar.1

    Keywords - Diseasei

    Congenital disorder of glycosylation, Disease mutation

    Organism-specific databases

    DisGeNETi5373
    GeneReviewsiPMM2
    MalaCardsiPMM2
    MIMi212065 phenotype
    OpenTargetsiENSG00000140650
    Orphaneti79318 PMM2-CDG
    PharmGKBiPA33441

    Chemistry databases

    ChEMBLiCHEMBL1741162

    Polymorphism and mutation databases

    BioMutaiPMM2

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Initiator methionineiRemovedCombined sources
    ChainiPRO_00001996942 – 246Phosphomannomutase 2Add BLAST245

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei2N-acetylalanineCombined sources1
    Modified residuei149N6-acetyllysineBy similarity1

    Keywords - PTMi

    Acetylation

    Proteomic databases

    EPDiO15305
    MaxQBiO15305
    PaxDbiO15305
    PeptideAtlasiO15305
    PRIDEiO15305
    ProteomicsDBi48574

    PTM databases

    iPTMnetiO15305
    PhosphoSitePlusiO15305

    Expressioni

    Gene expression databases

    BgeeiENSG00000140650 Expressed in 93 organ(s), highest expression level in heart left ventricle
    CleanExiHS_PMM2
    ExpressionAtlasiO15305 baseline and differential
    GenevisibleiO15305 HS

    Organism-specific databases

    HPAiHPA040852
    HPA063649

    Interactioni

    Subunit structurei

    Homodimer.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ACY3Q96HD98EBI-10182608,EBI-3916242

    Protein-protein interaction databases

    BioGridi111386, 7 interactors
    IntActiO15305, 16 interactors
    MINTiO15305
    STRINGi9606.ENSP00000268261

    Chemistry databases

    BindingDBiO15305

    Structurei

    Secondary structure

    1246
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliO15305
    SMRiO15305
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO15305

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the eukaryotic PMM family.Curated

    Phylogenomic databases

    eggNOGiKOG3189 Eukaryota
    COG0561 LUCA
    GeneTreeiENSGT00390000002918
    HOGENOMiHOG000181843
    HOVERGENiHBG106188
    InParanoidiO15305
    KOiK17497
    OMAiTYCLQHL
    OrthoDBiEOG091G0J2S
    PhylomeDBiO15305
    TreeFamiTF300874

    Family and domain databases

    CDDicd02585 HAD_PMM, 1 hit
    Gene3Di3.40.50.1000, 1 hit
    InterProiView protein in InterPro
    IPR036412 HAD-like_sf
    IPR006379 HAD-SF_hydro_IIB
    IPR023214 HAD_sf
    IPR005002 PMM
    PANTHERiPTHR10466 PTHR10466, 1 hit
    PfamiView protein in Pfam
    PF03332 PMM, 1 hit
    SFLDiSFLDG01143 C2.B.3:_Phosphomannomutase_Lik, 1 hit
    SUPFAMiSSF56784 SSF56784, 1 hit
    TIGRFAMsiTIGR01484 HAD-SF-IIB, 1 hit

    Sequences (2+)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: O15305-1) [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
    MAAPGPALCL FDVDGTLTAP RQKITKEMDD FLQKLRQKIK IGVVGGSDFE
    60 70 80 90 100
    KVQEQLGNDV VEKYDYVFPE NGLVAYKDGK LLCRQNIQSH LGEALIQDLI
    110 120 130 140 150
    NYCLSYIAKI KLPKKRGTFI EFRNGMLNVS PIGRSCSQEE RIEFYELDKK
    160 170 180 190 200
    ENIRQKFVAD LRKEFAGKGL TFSIGGQISF DVFPDGWDKR YCLRHVENDG
    210 220 230 240
    YKTIYFFGDK TMPGGNDHEI FTDPRTMGYS VTAPEDTRRI CELLFS
    Length:246
    Mass (Da):28,082
    Last modified:January 1, 1998 - v1
    Checksum:i29F1D5B9539B6221
    GO
    Isoform 2 (identifier: O15305-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         117-119: GTF → KKI
         120-246: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:119
    Mass (Da):13,428
    Checksum:iC9EF8183BC7078D8
    GO

    Computationally mapped potential isoform sequencesi

    There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    H3BV55H3BV55_HUMAN
    Phosphomannomutase
    PMM2
    219Annotation score:
    H3BV34H3BV34_HUMAN
    Phosphomannomutase
    PMM2
    70Annotation score:
    H3BPH4H3BPH4_HUMAN
    Phosphomannomutase
    PMM2
    142Annotation score:
    H3BR08H3BR08_HUMAN
    Phosphomannomutase
    PMM2
    65Annotation score:
    H3BNY9H3BNY9_HUMAN
    Phosphomannomutase
    PMM2
    91Annotation score:
    H3BT06H3BT06_HUMAN
    Phosphomannomutase
    PMM2
    90Annotation score:
    H3BRM0H3BRM0_HUMAN
    Phosphomannomutase
    PMM2
    155Annotation score:
    H3BM92H3BM92_HUMAN
    Phosphomannomutase
    PMM2
    66Annotation score:

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0224699C → Y in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs104894532EnsemblClinVar.1
    Natural variantiVAR_02247011F → C in CDG1A. 2 Publications1
    Natural variantiVAR_02247115G → E in CDG1A. 1 Publication1
    Natural variantiVAR_02247220P → S in CDG1A; reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs949271895Ensembl.1
    Natural variantiVAR_02247332L → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs398123312EnsemblClinVar.1
    Natural variantiVAR_02247437Q → H in CDG1A; partial loss of activity. 1 Publication1
    Natural variantiVAR_02213337Q → L. Corresponds to variant dbSNP:rs2304472EnsemblClinVar.1
    Natural variantiVAR_02247542G → R2 PublicationsCorresponds to variant dbSNP:rs755402538EnsemblClinVar.1
    Natural variantiVAR_00609344V → A in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs104894534EnsemblClinVar.1
    Natural variantiVAR_02256344V → L in CDG1A. 1 Publication1
    Natural variantiVAR_02247664Y → C in CDG1A. 1 Publication1
    Natural variantiVAR_00609465D → Y in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs104894527EnsemblClinVar.1
    Natural variantiVAR_02247767V → M in CDG1A. 2 Publications1
    Natural variantiVAR_02247869P → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs769648248EnsemblClinVar.1
    Natural variantiVAR_02247976Y → C in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs1440183322Ensembl.1
    Natural variantiVAR_02248093E → A in CDG1A. 1 Publication1
    Natural variantiVAR_006095101N → K in CDG1A. 1 Publication1
    Natural variantiVAR_022481103C → F in CDG1A. 2 Publications1
    Natural variantiVAR_012344104L → V in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs770458492EnsemblClinVar.1
    Natural variantiVAR_006096106Y → C in CDG1A. 1 Publication1
    Natural variantiVAR_006097108A → V in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs200503569EnsemblClinVar.1
    Natural variantiVAR_006098113P → L in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs80338700EnsemblClinVar.1
    Natural variantiVAR_006099117G → R in CDG1A; loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs104894530EnsemblClinVar.1
    Natural variantiVAR_006100119F → L in CDG1A; partial loss of activity. 5 PublicationsCorresponds to variant dbSNP:rs80338701EnsemblClinVar.1
    Natural variantiVAR_022482120I → T in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs368582085EnsemblClinVar.1
    Natural variantiVAR_006101123R → Q in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs141498002EnsemblClinVar.1
    Natural variantiVAR_006102129V → M in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs104894525EnsemblClinVar.1
    Natural variantiVAR_006103131P → A in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs1274547742Ensembl.1
    Natural variantiVAR_022483132I → F in CDG1A; slightly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs753632453Ensembl.1
    Natural variantiVAR_022484132I → N in CDG1A. 2 Publications1
    Natural variantiVAR_006104132I → T in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs80338702EnsemblClinVar.1
    Natural variantiVAR_009232139E → K in CDG1A; this mutation seems to disrupt a splicing enhancer sequence and thus results in most cases in a protein with exon 5 skipped; slightly reduced activity. 3 PublicationsCorresponds to variant dbSNP:rs80338703EnsemblClinVar.1
    Natural variantiVAR_022485141R → C in CDG1A; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs746610168EnsemblClinVar.1
    Natural variantiVAR_006105141R → H in CDG1A; frequent mutation; loss of activity; observed in heterozygous patients; homozygosis of this mutation is incompatible with life. 6 PublicationsCorresponds to variant dbSNP:rs28936415EnsemblClinVar.1
    Natural variantiVAR_022486144F → L in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs150719105EnsemblClinVar.1
    Natural variantiVAR_022487148D → N in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs148032587EnsemblClinVar.1
    Natural variantiVAR_022488151E → G in CDG1A. 1 Publication1
    Natural variantiVAR_022489153I → T in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs150577656EnsemblClinVar.1
    Natural variantiVAR_022490157F → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs190521996EnsemblClinVar.1
    Natural variantiVAR_006106162R → W in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs104894526EnsemblClinVar.1
    Natural variantiVAR_022491172F → V in CDG1A. 2 Publications1
    Natural variantiVAR_006107175G → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs941830625Ensembl.1
    Natural variantiVAR_022492176G → V in CDG1A; loss of activity. 1 Publication1
    Natural variantiVAR_022493177Q → H in CDG1A; partial loss of activity. 1 Publication1
    Natural variantiVAR_022494183F → S in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs780581250Ensembl.1
    Natural variantiVAR_022495185D → G in CDG1A. 2 Publications1
    Natural variantiVAR_006108188D → G in CDG1A; severe. 1 PublicationCorresponds to variant dbSNP:rs80338704EnsemblClinVar.1
    Natural variantiVAR_022496192C → G in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 3 Publications1
    Natural variantiVAR_022497195H → R in CDG1A. 1 Publication1
    Natural variantiVAR_022498197E → A2 PublicationsCorresponds to variant dbSNP:rs34258285EnsemblClinVar.1
    Natural variantiVAR_022499206F → S in CDG1A. 1 Publication1
    Natural variantiVAR_006109208G → A in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs398123309EnsemblClinVar.1
    Natural variantiVAR_022134212M → V. Corresponds to variant dbSNP:rs3743808Ensembl.1
    Natural variantiVAR_022500214G → S in CDG1A. 2 Publications1
    Natural variantiVAR_006110216N → I in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs78290141EnsemblClinVar.1
    Natural variantiVAR_022501216N → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs78290141EnsemblClinVar.1
    Natural variantiVAR_022502217D → E in CDG1A. 2 Publications1
    Natural variantiVAR_022503218H → L in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs80338705EnsemblClinVar.1
    Natural variantiVAR_006111223D → E in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 4 PublicationsCorresponds to variant dbSNP:rs104894531EnsemblClinVar.1
    Natural variantiVAR_022504223D → N in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs201960869Ensembl.1
    Natural variantiVAR_022505226T → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs80338706EnsemblClinVar.1
    Natural variantiVAR_022506228G → C in CDG1A. 1 Publication1
    Natural variantiVAR_022507228G → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs558826439Ensembl.1
    Natural variantiVAR_006112229Y → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs398123311EnsemblClinVar.1
    Natural variantiVAR_006113231V → M in CDG1A. 5 PublicationsCorresponds to variant dbSNP:rs80338707EnsemblClinVar.1
    Natural variantiVAR_006114233A → T in CDG1A; unknown pathological significance. 1 Publication1
    Natural variantiVAR_006115237T → M in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs80338708EnsemblClinVar.1
    Natural variantiVAR_022508237T → R in CDG1A; loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs80338708EnsemblClinVar.1
    Natural variantiVAR_022509238R → G in CDG1A. 1 Publication1
    Natural variantiVAR_006116238R → P in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs151319324Ensembl.1
    Natural variantiVAR_022510241C → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs80338709EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_056228117 – 119GTF → KKI in isoform 2. 1 Publication3
    Alternative sequenceiVSP_056229120 – 246Missing in isoform 2. 1 PublicationAdd BLAST127

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    U85773 mRNA Translation: AAC51368.1
    AF157796
    , AF157790, AF157791, AF157792, AF157793, AF157794, AF157795 Genomic DNA Translation: AAD45895.1
    AK291537 mRNA Translation: BAF84226.1
    AK300785 mRNA Translation: BAH13346.1
    AC012173 Genomic DNA No translation available.
    CH471112 Genomic DNA Translation: EAW85200.1
    CH471112 Genomic DNA Translation: EAW85201.1
    CH471112 Genomic DNA Translation: EAW85202.1
    CH471112 Genomic DNA Translation: EAW85203.1
    BC008310 mRNA Translation: AAH08310.1
    CCDSiCCDS10536.1 [O15305-1]
    RefSeqiNP_000294.1, NM_000303.2 [O15305-1]
    UniGeneiHs.625732

    Genome annotation databases

    EnsembliENST00000268261; ENSP00000268261; ENSG00000140650 [O15305-1]
    ENST00000566604; ENSP00000456774; ENSG00000140650 [O15305-2]
    GeneIDi5373
    KEGGihsa:5373
    UCSCiuc002czf.5 human [O15305-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    U85773 mRNA Translation: AAC51368.1
    AF157796
    , AF157790, AF157791, AF157792, AF157793, AF157794, AF157795 Genomic DNA Translation: AAD45895.1
    AK291537 mRNA Translation: BAF84226.1
    AK300785 mRNA Translation: BAH13346.1
    AC012173 Genomic DNA No translation available.
    CH471112 Genomic DNA Translation: EAW85200.1
    CH471112 Genomic DNA Translation: EAW85201.1
    CH471112 Genomic DNA Translation: EAW85202.1
    CH471112 Genomic DNA Translation: EAW85203.1
    BC008310 mRNA Translation: AAH08310.1
    CCDSiCCDS10536.1 [O15305-1]
    RefSeqiNP_000294.1, NM_000303.2 [O15305-1]
    UniGeneiHs.625732

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    2AMYX-ray2.09A2-246[»]
    2Q4RX-ray2.09A2-246[»]
    ProteinModelPortaliO15305
    SMRiO15305
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi111386, 7 interactors
    IntActiO15305, 16 interactors
    MINTiO15305
    STRINGi9606.ENSP00000268261

    Chemistry databases

    BindingDBiO15305
    ChEMBLiCHEMBL1741162

    PTM databases

    iPTMnetiO15305
    PhosphoSitePlusiO15305

    Polymorphism and mutation databases

    BioMutaiPMM2

    Proteomic databases

    EPDiO15305
    MaxQBiO15305
    PaxDbiO15305
    PeptideAtlasiO15305
    PRIDEiO15305
    ProteomicsDBi48574

    Protocols and materials databases

    DNASUi5373
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000268261; ENSP00000268261; ENSG00000140650 [O15305-1]
    ENST00000566604; ENSP00000456774; ENSG00000140650 [O15305-2]
    GeneIDi5373
    KEGGihsa:5373
    UCSCiuc002czf.5 human [O15305-1]

    Organism-specific databases

    CTDi5373
    DisGeNETi5373
    EuPathDBiHostDB:ENSG00000140650.11
    GeneCardsiPMM2
    GeneReviewsiPMM2
    HGNCiHGNC:9115 PMM2
    HPAiHPA040852
    HPA063649
    MalaCardsiPMM2
    MIMi212065 phenotype
    601785 gene
    neXtProtiNX_O15305
    OpenTargetsiENSG00000140650
    Orphaneti79318 PMM2-CDG
    PharmGKBiPA33441
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG3189 Eukaryota
    COG0561 LUCA
    GeneTreeiENSGT00390000002918
    HOGENOMiHOG000181843
    HOVERGENiHBG106188
    InParanoidiO15305
    KOiK17497
    OMAiTYCLQHL
    OrthoDBiEOG091G0J2S
    PhylomeDBiO15305
    TreeFamiTF300874

    Enzyme and pathway databases

    UniPathwayi
    UPA00126;UER00424

    BRENDAi5.4.2.8 2681
    ReactomeiR-HSA-4043911 Defective PMM2 causes PMM2-CDG (CDG-1a)
    R-HSA-446205 Synthesis of GDP-mannose
    SABIO-RKiO15305

    Miscellaneous databases

    ChiTaRSiPMM2 human
    EvolutionaryTraceiO15305
    GeneWikiiPMM2
    GenomeRNAii5373
    PROiPR:O15305
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000140650 Expressed in 93 organ(s), highest expression level in heart left ventricle
    CleanExiHS_PMM2
    ExpressionAtlasiO15305 baseline and differential
    GenevisibleiO15305 HS

    Family and domain databases

    CDDicd02585 HAD_PMM, 1 hit
    Gene3Di3.40.50.1000, 1 hit
    InterProiView protein in InterPro
    IPR036412 HAD-like_sf
    IPR006379 HAD-SF_hydro_IIB
    IPR023214 HAD_sf
    IPR005002 PMM
    PANTHERiPTHR10466 PTHR10466, 1 hit
    PfamiView protein in Pfam
    PF03332 PMM, 1 hit
    SFLDiSFLDG01143 C2.B.3:_Phosphomannomutase_Lik, 1 hit
    SUPFAMiSSF56784 SSF56784, 1 hit
    TIGRFAMsiTIGR01484 HAD-SF-IIB, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiPMM2_HUMAN
    AccessioniPrimary (citable) accession number: O15305
    Secondary accession number(s): A8K672, B7Z6R0, D3DUF3
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: January 1, 1998
    Last modified: November 7, 2018
    This is version 197 of the entry and version 1 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 16
      Human chromosome 16: 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
    7. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references