Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Phosphomannomutase 2

Gene

PMM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 (MPI), Mannose-6-phosphate isomerase (MPI), Mannose-6-phosphate isomerase
    2. Phosphomannomutase, Phosphomannomutase, Phosphomannomutase (PMM2), Phosphomannomutase, Phosphomannomutase, Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase, Phosphomannomutase (PMM2), Phosphomannomutase, Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM1), Phosphomannomutase 1 (PMM1), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase 2 (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

    GO - Biological processi

    Complete GO annotation...

    Keywords - Molecular functioni

    Isomerase

    Enzyme and pathway databases

    BioCyciZFISH:HS06747-MONOMER.
    BRENDAi5.4.2.8. 2681.
    ReactomeiR-HSA-446205. Synthesis of GDP-mannose.
    SABIO-RKO15305.
    UniPathwayiUPA00126; 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

    HGNCiHGNC:9115. PMM2.

    Subcellular locationi

    GO - Cellular componenti

    • cytosol Source: GO_Central
    • extracellular exosome Source: UniProtKB
    • neuronal cell body Source: Ensembl
    Complete GO annotation...

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 1A (CDG1A)13 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 rs104894532dbSNPEnsembl.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 Publication1
    Natural variantiVAR_02247332L → R in CDG1A. 2 PublicationsCorresponds to variant rs398123312dbSNPEnsembl.1
    Natural variantiVAR_02247437Q → H in CDG1A; partial loss of activity. 1 Publication1
    Natural variantiVAR_00609344V → A in CDG1A. 2 PublicationsCorresponds to variant rs104894534dbSNPEnsembl.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 rs104894527dbSNPEnsembl.1
    Natural variantiVAR_02247767V → M in CDG1A. 2 Publications1
    Natural variantiVAR_02247869P → S in CDG1A. 2 Publications1
    Natural variantiVAR_02247976Y → C in CDG1A. 1 Publication1
    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 rs770458492dbSNPEnsembl.1
    Natural variantiVAR_006096106Y → C in CDG1A. 1 Publication1
    Natural variantiVAR_006097108A → V in CDG1A. 2 PublicationsCorresponds to variant rs200503569dbSNPEnsembl.1
    Natural variantiVAR_006098113P → L in CDG1A. 3 PublicationsCorresponds to variant rs80338700dbSNPEnsembl.1
    Natural variantiVAR_006099117G → R in CDG1A; loss of activity. 4 PublicationsCorresponds to variant rs104894530dbSNPEnsembl.1
    Natural variantiVAR_006100119F → L in CDG1A; partial loss of activity. 5 PublicationsCorresponds to variant rs80338701dbSNPEnsembl.1
    Natural variantiVAR_022482120I → T in CDG1A. 1 PublicationCorresponds to variant rs368582085dbSNPEnsembl.1
    Natural variantiVAR_006101123R → Q in CDG1A. 3 PublicationsCorresponds to variant rs141498002dbSNPEnsembl.1
    Natural variantiVAR_006102129V → M in CDG1A. 3 PublicationsCorresponds to variant rs28938475dbSNPEnsembl.1
    Natural variantiVAR_006103131P → A in CDG1A. 2 Publications1
    Natural variantiVAR_022483132I → F in CDG1A; slightly reduced activity. 1 PublicationCorresponds to variant rs753632453dbSNPEnsembl.1
    Natural variantiVAR_022484132I → N in CDG1A. 2 Publications1
    Natural variantiVAR_006104132I → T in CDG1A. 2 PublicationsCorresponds to variant rs80338702dbSNPEnsembl.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 rs80338703dbSNPEnsembl.1
    Natural variantiVAR_022485141R → C in CDG1A; loss of activity. 1 PublicationCorresponds to variant rs746610168dbSNPEnsembl.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 rs28936415dbSNPEnsembl.1
    Natural variantiVAR_022486144F → L in CDG1A. 1 PublicationCorresponds to variant rs150719105dbSNPEnsembl.1
    Natural variantiVAR_022487148D → N in CDG1A. 2 PublicationsCorresponds to variant rs148032587dbSNPEnsembl.1
    Natural variantiVAR_022488151E → G in CDG1A. 1 Publication1
    Natural variantiVAR_022489153I → T in CDG1A. 2 PublicationsCorresponds to variant rs150577656dbSNPEnsembl.1
    Natural variantiVAR_022490157F → S in CDG1A. 2 PublicationsCorresponds to variant rs190521996dbSNPEnsembl.1
    Natural variantiVAR_006106162R → W in CDG1A. 2 PublicationsCorresponds to variant rs104894526dbSNPEnsembl.1
    Natural variantiVAR_022491172F → V in CDG1A. 2 Publications1
    Natural variantiVAR_006107175G → R in CDG1A. 2 Publications1
    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 rs780581250dbSNPEnsembl.1
    Natural variantiVAR_022495185D → G in CDG1A. 2 Publications1
    Natural variantiVAR_006108188D → G in CDG1A; severe. 1 PublicationCorresponds to variant rs80338704dbSNPEnsembl.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 → A in CDG1A. 2 PublicationsCorresponds to variant rs34258285dbSNPEnsembl.1
    Natural variantiVAR_022499206F → S in CDG1A. 1 Publication1
    Natural variantiVAR_006109208G → A in CDG1A. 2 PublicationsCorresponds to variant rs398123309dbSNPEnsembl.1
    Natural variantiVAR_022500214G → S in CDG1A. 2 Publications1
    Natural variantiVAR_006110216N → I in CDG1A. 1 PublicationCorresponds to variant rs78290141dbSNPEnsembl.1
    Natural variantiVAR_022501216N → S in CDG1A. 2 PublicationsCorresponds to variant rs78290141dbSNPEnsembl.1
    Natural variantiVAR_022502217D → E in CDG1A. 2 Publications1
    Natural variantiVAR_022503218H → L in CDG1A. 1 PublicationCorresponds to variant rs80338705dbSNPEnsembl.1
    Natural variantiVAR_006111223D → E in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 4 PublicationsCorresponds to variant rs104894531dbSNPEnsembl.1
    Natural variantiVAR_022504223D → N in CDG1A. 1 PublicationCorresponds to variant rs201960869dbSNPEnsembl.1
    Natural variantiVAR_022505226T → S in CDG1A. 2 PublicationsCorresponds to variant rs80338706dbSNPEnsembl.1
    Natural variantiVAR_022506228G → C in CDG1A. 1 Publication1
    Natural variantiVAR_022507228G → R in CDG1A. 2 PublicationsCorresponds to variant rs558826439dbSNPEnsembl.1
    Natural variantiVAR_006112229Y → S in CDG1A. 2 PublicationsCorresponds to variant rs398123311dbSNPEnsembl.1
    Natural variantiVAR_006113231V → M in CDG1A. 5 PublicationsCorresponds to variant rs80338707dbSNPEnsembl.1
    Natural variantiVAR_006114233A → T in CDG1A; unknown pathological significance. 1 Publication1
    Natural variantiVAR_006115237T → M in CDG1A. 3 PublicationsCorresponds to variant rs80338708dbSNPEnsembl.1
    Natural variantiVAR_022508237T → R in CDG1A; loss of activity. 4 PublicationsCorresponds to variant rs80338708dbSNPEnsembl.1
    Natural variantiVAR_022509238R → G in CDG1A. 1 Publication1
    Natural variantiVAR_006116238R → P in CDG1A. 1 PublicationCorresponds to variant rs151319324dbSNPEnsembl.1
    Natural variantiVAR_022510241C → S in CDG1A. 2 PublicationsCorresponds to variant rs80338709dbSNPEnsembl.1

    Keywords - Diseasei

    Congenital disorder of glycosylation, Disease mutation

    Organism-specific databases

    DisGeNETi5373.
    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.

    PTM databases

    iPTMnetiO15305.
    PhosphoSitePlusiO15305.

    Expressioni

    Gene expression databases

    BgeeiENSG00000140650.
    CleanExiHS_PMM2.
    ExpressionAtlasiO15305. baseline and differential.
    GenevisibleiO15305. HS.

    Organism-specific databases

    HPAiHPA040852.
    HPA063649.

    Interactioni

    Subunit structurei

    Homodimer.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ACY3Q96HD95EBI-10182608,EBI-3916242

    Protein-protein interaction databases

    BioGridi111386. 5 interactors.
    IntActiO15305. 4 interactors.
    STRINGi9606.ENSP00000268261.

    Chemistry databases

    BindingDBiO15305.

    Structurei

    Secondary structure

    1246
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Beta strandi6 – 14Combined sources9
    Turni15 – 17Combined sources3
    Helixi26 – 35Combined sources10
    Turni36 – 38Combined sources3
    Beta strandi39 – 44Combined sources6
    Helixi49 – 56Combined sources8
    Helixi60 – 63Combined sources4
    Beta strandi65 – 69Combined sources5
    Helixi70 – 72Combined sources3
    Beta strandi74 – 77Combined sources4
    Beta strandi80 – 84Combined sources5
    Helixi87 – 91Combined sources5
    Helixi93 – 109Combined sources17
    Beta strandi119 – 123Combined sources5
    Beta strandi126 – 129Combined sources4
    Helixi138 – 151Combined sources14
    Helixi153 – 164Combined sources12
    Turni165 – 167Combined sources3
    Beta strandi170 – 175Combined sources6
    Turni176 – 178Combined sources3
    Beta strandi179 – 184Combined sources6
    Helixi189 – 195Combined sources7
    Turni196 – 198Combined sources3
    Beta strandi202 – 208Combined sources7
    Helixi219 – 222Combined sources4
    Beta strandi226 – 230Combined sources5
    Helixi234 – 244Combined sources11

    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...

    Miscellaneous databases

    EvolutionaryTraceiO15305.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the eukaryotic PMM family.Curated

    Phylogenomic databases

    eggNOGiKOG3189. Eukaryota.
    COG0561. LUCA.
    GeneTreeiENSGT00390000002918.
    HOGENOMiHOG000181843.
    HOVERGENiHBG009971.
    InParanoidiO15305.
    KOiK17497.
    OMAiITKEMDG.
    OrthoDBiEOG091G0J2S.
    PhylomeDBiO15305.
    TreeFamiTF300874.

    Family and domain databases

    Gene3Di3.40.50.1000. 2 hits.
    InterProiIPR023214. HAD-like_dom.
    IPR006379. HAD-SF_hydro_IIB.
    IPR005002. PMM.
    [Graphical view]
    PANTHERiPTHR10466. PTHR10466. 1 hit.
    PfamiPF03332. PMM. 1 hit.
    [Graphical view]
    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

    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

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0224699C → Y in CDG1A. 3 PublicationsCorresponds to variant rs104894532dbSNPEnsembl.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 Publication1
    Natural variantiVAR_02247332L → R in CDG1A. 2 PublicationsCorresponds to variant rs398123312dbSNPEnsembl.1
    Natural variantiVAR_02247437Q → H in CDG1A; partial loss of activity. 1 Publication1
    Natural variantiVAR_02213337Q → L.Corresponds to variant rs2304472dbSNPEnsembl.1
    Natural variantiVAR_02247542G → R.2 PublicationsCorresponds to variant rs755402538dbSNPEnsembl.1
    Natural variantiVAR_00609344V → A in CDG1A. 2 PublicationsCorresponds to variant rs104894534dbSNPEnsembl.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 rs104894527dbSNPEnsembl.1
    Natural variantiVAR_02247767V → M in CDG1A. 2 Publications1
    Natural variantiVAR_02247869P → S in CDG1A. 2 Publications1
    Natural variantiVAR_02247976Y → C in CDG1A. 1 Publication1
    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 rs770458492dbSNPEnsembl.1
    Natural variantiVAR_006096106Y → C in CDG1A. 1 Publication1
    Natural variantiVAR_006097108A → V in CDG1A. 2 PublicationsCorresponds to variant rs200503569dbSNPEnsembl.1
    Natural variantiVAR_006098113P → L in CDG1A. 3 PublicationsCorresponds to variant rs80338700dbSNPEnsembl.1
    Natural variantiVAR_006099117G → R in CDG1A; loss of activity. 4 PublicationsCorresponds to variant rs104894530dbSNPEnsembl.1
    Natural variantiVAR_006100119F → L in CDG1A; partial loss of activity. 5 PublicationsCorresponds to variant rs80338701dbSNPEnsembl.1
    Natural variantiVAR_022482120I → T in CDG1A. 1 PublicationCorresponds to variant rs368582085dbSNPEnsembl.1
    Natural variantiVAR_006101123R → Q in CDG1A. 3 PublicationsCorresponds to variant rs141498002dbSNPEnsembl.1
    Natural variantiVAR_006102129V → M in CDG1A. 3 PublicationsCorresponds to variant rs28938475dbSNPEnsembl.1
    Natural variantiVAR_006103131P → A in CDG1A. 2 Publications1
    Natural variantiVAR_022483132I → F in CDG1A; slightly reduced activity. 1 PublicationCorresponds to variant rs753632453dbSNPEnsembl.1
    Natural variantiVAR_022484132I → N in CDG1A. 2 Publications1
    Natural variantiVAR_006104132I → T in CDG1A. 2 PublicationsCorresponds to variant rs80338702dbSNPEnsembl.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 rs80338703dbSNPEnsembl.1
    Natural variantiVAR_022485141R → C in CDG1A; loss of activity. 1 PublicationCorresponds to variant rs746610168dbSNPEnsembl.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 rs28936415dbSNPEnsembl.1
    Natural variantiVAR_022486144F → L in CDG1A. 1 PublicationCorresponds to variant rs150719105dbSNPEnsembl.1
    Natural variantiVAR_022487148D → N in CDG1A. 2 PublicationsCorresponds to variant rs148032587dbSNPEnsembl.1
    Natural variantiVAR_022488151E → G in CDG1A. 1 Publication1
    Natural variantiVAR_022489153I → T in CDG1A. 2 PublicationsCorresponds to variant rs150577656dbSNPEnsembl.1
    Natural variantiVAR_022490157F → S in CDG1A. 2 PublicationsCorresponds to variant rs190521996dbSNPEnsembl.1
    Natural variantiVAR_006106162R → W in CDG1A. 2 PublicationsCorresponds to variant rs104894526dbSNPEnsembl.1
    Natural variantiVAR_022491172F → V in CDG1A. 2 Publications1
    Natural variantiVAR_006107175G → R in CDG1A. 2 Publications1
    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 rs780581250dbSNPEnsembl.1
    Natural variantiVAR_022495185D → G in CDG1A. 2 Publications1
    Natural variantiVAR_006108188D → G in CDG1A; severe. 1 PublicationCorresponds to variant rs80338704dbSNPEnsembl.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 → A in CDG1A. 2 PublicationsCorresponds to variant rs34258285dbSNPEnsembl.1
    Natural variantiVAR_022499206F → S in CDG1A. 1 Publication1
    Natural variantiVAR_006109208G → A in CDG1A. 2 PublicationsCorresponds to variant rs398123309dbSNPEnsembl.1
    Natural variantiVAR_022134212M → V.Corresponds to variant rs3743808dbSNPEnsembl.1
    Natural variantiVAR_022500214G → S in CDG1A. 2 Publications1
    Natural variantiVAR_006110216N → I in CDG1A. 1 PublicationCorresponds to variant rs78290141dbSNPEnsembl.1
    Natural variantiVAR_022501216N → S in CDG1A. 2 PublicationsCorresponds to variant rs78290141dbSNPEnsembl.1
    Natural variantiVAR_022502217D → E in CDG1A. 2 Publications1
    Natural variantiVAR_022503218H → L in CDG1A. 1 PublicationCorresponds to variant rs80338705dbSNPEnsembl.1
    Natural variantiVAR_006111223D → E in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 4 PublicationsCorresponds to variant rs104894531dbSNPEnsembl.1
    Natural variantiVAR_022504223D → N in CDG1A. 1 PublicationCorresponds to variant rs201960869dbSNPEnsembl.1
    Natural variantiVAR_022505226T → S in CDG1A. 2 PublicationsCorresponds to variant rs80338706dbSNPEnsembl.1
    Natural variantiVAR_022506228G → C in CDG1A. 1 Publication1
    Natural variantiVAR_022507228G → R in CDG1A. 2 PublicationsCorresponds to variant rs558826439dbSNPEnsembl.1
    Natural variantiVAR_006112229Y → S in CDG1A. 2 PublicationsCorresponds to variant rs398123311dbSNPEnsembl.1
    Natural variantiVAR_006113231V → M in CDG1A. 5 PublicationsCorresponds to variant rs80338707dbSNPEnsembl.1
    Natural variantiVAR_006114233A → T in CDG1A; unknown pathological significance. 1 Publication1
    Natural variantiVAR_006115237T → M in CDG1A. 3 PublicationsCorresponds to variant rs80338708dbSNPEnsembl.1
    Natural variantiVAR_022508237T → R in CDG1A; loss of activity. 4 PublicationsCorresponds to variant rs80338708dbSNPEnsembl.1
    Natural variantiVAR_022509238R → G in CDG1A. 1 Publication1
    Natural variantiVAR_006116238R → P in CDG1A. 1 PublicationCorresponds to variant rs151319324dbSNPEnsembl.1
    Natural variantiVAR_022510241C → S in CDG1A. 2 PublicationsCorresponds to variant rs80338709dbSNPEnsembl.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

    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. 5 interactors.
    IntActiO15305. 4 interactors.
    STRINGi9606.ENSP00000268261.

    Chemistry databases

    BindingDBiO15305.
    ChEMBLiCHEMBL1741162.

    PTM databases

    iPTMnetiO15305.
    PhosphoSitePlusiO15305.

    Polymorphism and mutation databases

    BioMutaiPMM2.

    Proteomic databases

    EPDiO15305.
    MaxQBiO15305.
    PaxDbiO15305.
    PeptideAtlasiO15305.
    PRIDEiO15305.

    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.
    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.
    HOVERGENiHBG009971.
    InParanoidiO15305.
    KOiK17497.
    OMAiITKEMDG.
    OrthoDBiEOG091G0J2S.
    PhylomeDBiO15305.
    TreeFamiTF300874.

    Enzyme and pathway databases

    UniPathwayiUPA00126; UER00424.
    BioCyciZFISH:HS06747-MONOMER.
    BRENDAi5.4.2.8. 2681.
    ReactomeiR-HSA-446205. Synthesis of GDP-mannose.
    SABIO-RKO15305.

    Miscellaneous databases

    ChiTaRSiPMM2. human.
    EvolutionaryTraceiO15305.
    GeneWikiiPMM2.
    GenomeRNAii5373.
    PROiO15305.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000140650.
    CleanExiHS_PMM2.
    ExpressionAtlasiO15305. baseline and differential.
    GenevisibleiO15305. HS.

    Family and domain databases

    Gene3Di3.40.50.1000. 2 hits.
    InterProiIPR023214. HAD-like_dom.
    IPR006379. HAD-SF_hydro_IIB.
    IPR005002. PMM.
    [Graphical view]
    PANTHERiPTHR10466. PTHR10466. 1 hit.
    PfamiPF03332. PMM. 1 hit.
    [Graphical view]
    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 historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: January 1, 1998
    Last modified: November 30, 2016
    This is version 178 of the entry and version 1 of the sequence. [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. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families