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O15305

- PMM2_HUMAN

UniProt

O15305 - PMM2_HUMAN

Protein

Phosphomannomutase 2

Gene

PMM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 157 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    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

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei12 – 121NucleophileBy similarity
    Active sitei14 – 141Proton donor/acceptorSequence Analysis
    Binding sitei21 – 211SubstrateBy similarity
    Binding sitei123 – 1231SubstrateBy similarity
    Binding sitei134 – 1341SubstrateBy similarity
    Binding sitei141 – 1411SubstrateBy similarity
    Binding sitei179 – 1791SubstrateBy similarity
    Binding sitei181 – 1811SubstrateBy similarity

    GO - Molecular functioni

    1. phosphomannomutase activity Source: ProtInc

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
    3. GDP-mannose biosynthetic process Source: Reactome
    4. mannose biosynthetic process Source: InterPro
    5. post-translational protein modification Source: Reactome
    6. protein glycosylation Source: ProtInc
    7. protein N-linked glycosylation via asparagine Source: Reactome

    Keywords - Molecular functioni

    Isomerase

    Enzyme and pathway databases

    BRENDAi5.4.2.8. 2681.
    ReactomeiREACT_22423. 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
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:9115. PMM2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. extracellular vesicular exosome Source: UniProt
    3. neuronal cell body Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]: 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. Congenital disorder of glycosylation type 1A 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.13 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 91C → Y in CDG1A. 3 Publications
    VAR_022469
    Natural varianti11 – 111F → C in CDG1A. 2 Publications
    VAR_022470
    Natural varianti15 – 151G → E in CDG1A. 1 Publication
    VAR_022471
    Natural varianti20 – 201P → S in CDG1A; reduction of activity. 1 Publication
    VAR_022472
    Natural varianti32 – 321L → R in CDG1A. 2 Publications
    VAR_022473
    Natural varianti37 – 371Q → H in CDG1A; partial loss of activity. 1 Publication
    VAR_022474
    Natural varianti44 – 441V → A in CDG1A. 2 Publications
    VAR_006093
    Natural varianti44 – 441V → L in CDG1A. 1 Publication
    VAR_022563
    Natural varianti64 – 641Y → C in CDG1A. 1 Publication
    VAR_022476
    Natural varianti65 – 651D → Y in CDG1A. 2 Publications
    VAR_006094
    Natural varianti67 – 671V → M in CDG1A. 2 Publications
    VAR_022477
    Natural varianti69 – 691P → S in CDG1A. 2 Publications
    VAR_022478
    Natural varianti76 – 761Y → C in CDG1A. 1 Publication
    VAR_022479
    Natural varianti93 – 931E → A in CDG1A. 1 Publication
    VAR_022480
    Natural varianti101 – 1011N → K in CDG1A. 1 Publication
    VAR_006095
    Natural varianti103 – 1031C → F in CDG1A. 2 Publications
    VAR_022481
    Natural varianti104 – 1041L → V in CDG1A. 1 Publication
    VAR_012344
    Natural varianti106 – 1061Y → C in CDG1A. 1 Publication
    VAR_006096
    Natural varianti108 – 1081A → V in CDG1A. 2 Publications
    VAR_006097
    Natural varianti113 – 1131P → L in CDG1A. 3 Publications
    VAR_006098
    Natural varianti117 – 1171G → R in CDG1A; loss of activity. 3 Publications
    VAR_006099
    Natural varianti119 – 1191F → L in CDG1A; partial loss of activity. 4 Publications
    VAR_006100
    Natural varianti120 – 1201I → T in CDG1A. 1 Publication
    VAR_022482
    Natural varianti123 – 1231R → Q in CDG1A. 3 Publications
    VAR_006101
    Natural varianti129 – 1291V → M in CDG1A. 3 Publications
    Corresponds to variant rs28938475 [ dbSNP | Ensembl ].
    VAR_006102
    Natural varianti131 – 1311P → A in CDG1A. 2 Publications
    VAR_006103
    Natural varianti132 – 1321I → F in CDG1A; slightly reduced activity. 1 Publication
    VAR_022483
    Natural varianti132 – 1321I → N in CDG1A. 2 Publications
    VAR_022484
    Natural varianti132 – 1321I → T in CDG1A. 2 Publications
    VAR_006104
    Natural varianti139 – 1391E → 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 Publications
    VAR_009232
    Natural varianti141 – 1411R → C in CDG1A; loss of activity. 1 Publication
    VAR_022485
    Natural varianti141 – 1411R → H in CDG1A; frequent mutation; loss of activity; observed in heterozygous patients; homozygosis of this mutation is incompatible with life. 5 Publications
    Corresponds to variant rs28936415 [ dbSNP | Ensembl ].
    VAR_006105
    Natural varianti144 – 1441F → L in CDG1A. 1 Publication
    Corresponds to variant rs150719105 [ dbSNP | Ensembl ].
    VAR_022486
    Natural varianti148 – 1481D → N in CDG1A. 2 Publications
    VAR_022487
    Natural varianti151 – 1511E → G in CDG1A. 1 Publication
    VAR_022488
    Natural varianti153 – 1531I → T in CDG1A. 2 Publications
    VAR_022489
    Natural varianti157 – 1571F → S in CDG1A. 2 Publications
    Corresponds to variant rs190521996 [ dbSNP | Ensembl ].
    VAR_022490
    Natural varianti162 – 1621R → W in CDG1A. 2 Publications
    VAR_006106
    Natural varianti172 – 1721F → V in CDG1A. 2 Publications
    VAR_022491
    Natural varianti175 – 1751G → R in CDG1A. 2 Publications
    VAR_006107
    Natural varianti176 – 1761G → V in CDG1A; loss of activity. 1 Publication
    VAR_022492
    Natural varianti177 – 1771Q → H in CDG1A; partial loss of activity. 1 Publication
    VAR_022493
    Natural varianti183 – 1831F → S in CDG1A. 3 Publications
    VAR_022494
    Natural varianti185 – 1851D → G in CDG1A. 2 Publications
    VAR_022495
    Natural varianti188 – 1881D → G in CDG1A; severe. 1 Publication
    VAR_006108
    Natural varianti192 – 1921C → G in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 3 Publications
    VAR_022496
    Natural varianti195 – 1951H → R in CDG1A. 1 Publication
    VAR_022497
    Natural varianti197 – 1971E → A in CDG1A. 2 Publications
    Corresponds to variant rs34258285 [ dbSNP | Ensembl ].
    VAR_022498
    Natural varianti206 – 2061F → S in CDG1A. 1 Publication
    VAR_022499
    Natural varianti208 – 2081G → A in CDG1A. 2 Publications
    VAR_006109
    Natural varianti214 – 2141G → S in CDG1A. 2 Publications
    VAR_022500
    Natural varianti216 – 2161N → I in CDG1A. 1 Publication
    Corresponds to variant rs78290141 [ dbSNP | Ensembl ].
    VAR_006110
    Natural varianti216 – 2161N → S in CDG1A. 2 Publications
    Corresponds to variant rs78290141 [ dbSNP | Ensembl ].
    VAR_022501
    Natural varianti217 – 2171D → E in CDG1A. 2 Publications
    VAR_022502
    Natural varianti218 – 2181H → L in CDG1A. 1 Publication
    VAR_022503
    Natural varianti223 – 2231D → E in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 3 Publications
    VAR_006111
    Natural varianti223 – 2231D → N in CDG1A. 1 Publication
    VAR_022504
    Natural varianti226 – 2261T → S in CDG1A. 2 Publications
    VAR_022505
    Natural varianti228 – 2281G → C in CDG1A. 1 Publication
    VAR_022506
    Natural varianti228 – 2281G → R in CDG1A. 2 Publications
    VAR_022507
    Natural varianti229 – 2291Y → S in CDG1A. 2 Publications
    VAR_006112
    Natural varianti231 – 2311V → M in CDG1A. 5 Publications
    VAR_006113
    Natural varianti233 – 2331A → T in CDG1A; unknown pathological significance. 1 Publication
    VAR_006114
    Natural varianti237 – 2371T → M in CDG1A. 3 Publications
    Corresponds to variant rs80338708 [ dbSNP | Ensembl ].
    VAR_006115
    Natural varianti237 – 2371T → R in CDG1A; loss of activity. 3 Publications
    Corresponds to variant rs80338708 [ dbSNP | Ensembl ].
    VAR_022508
    Natural varianti238 – 2381R → G in CDG1A. 1 Publication
    VAR_022509
    Natural varianti238 – 2381R → P in CDG1A. 1 Publication
    VAR_006116
    Natural varianti241 – 2411C → S in CDG1A. 2 Publications
    VAR_022510

    Keywords - Diseasei

    Congenital disorder of glycosylation, Disease mutation

    Organism-specific databases

    MIMi212065. phenotype.
    Orphaneti79318. PMM2-CDG.
    PharmGKBiPA33441.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed2 Publications
    Chaini2 – 246245Phosphomannomutase 2PRO_0000199694Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine2 Publications
    Modified residuei149 – 1491N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO15305.
    PaxDbiO15305.
    PeptideAtlasiO15305.
    PRIDEiO15305.

    PTM databases

    PhosphoSiteiO15305.

    Expressioni

    Gene expression databases

    ArrayExpressiO15305.
    BgeeiO15305.
    CleanExiHS_PMM2.
    GenevestigatoriO15305.

    Organism-specific databases

    HPAiHPA040852.

    Interactioni

    Subunit structurei

    Homodimer.By similarity

    Protein-protein interaction databases

    BioGridi111386. 3 interactions.
    STRINGi9606.ENSP00000268261.

    Structurei

    Secondary structure

    1
    246
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi6 – 149
    Turni15 – 173
    Helixi26 – 3510
    Turni36 – 383
    Beta strandi39 – 446
    Helixi49 – 568
    Helixi60 – 634
    Beta strandi65 – 695
    Helixi70 – 723
    Beta strandi74 – 774
    Beta strandi80 – 845
    Helixi87 – 915
    Helixi93 – 10917
    Beta strandi119 – 1235
    Beta strandi126 – 1294
    Helixi138 – 15114
    Helixi153 – 16412
    Turni165 – 1673
    Beta strandi170 – 1756
    Turni176 – 1783
    Beta strandi179 – 1846
    Helixi189 – 1957
    Turni196 – 1983
    Beta strandi202 – 2087
    Helixi219 – 2224
    Beta strandi226 – 2305
    Helixi234 – 24411

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2AMYX-ray2.09A2-246[»]
    2Q4RX-ray2.09A2-246[»]
    ProteinModelPortaliO15305.
    SMRiO15305. Positions 4-246.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO15305.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the eukaryotic PMM family.Curated

    Phylogenomic databases

    eggNOGiCOG0561.
    HOGENOMiHOG000181843.
    HOVERGENiHBG009971.
    InParanoidiO15305.
    KOiK17497.
    OMAiTYCLQHV.
    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. Align

    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

    MAAPGPALCL FDVDGTLTAP RQKITKEMDD FLQKLRQKIK IGVVGGSDFE    50
    KVQEQLGNDV VEKYDYVFPE NGLVAYKDGK LLCRQNIQSH LGEALIQDLI 100
    NYCLSYIAKI KLPKKRGTFI EFRNGMLNVS PIGRSCSQEE RIEFYELDKK 150
    ENIRQKFVAD LRKEFAGKGL TFSIGGQISF DVFPDGWDKR YCLRHVENDG 200
    YKTIYFFGDK TMPGGNDHEI FTDPRTMGYS VTAPEDTRRI CELLFS 246
    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 91C → Y in CDG1A. 3 Publications
    VAR_022469
    Natural varianti11 – 111F → C in CDG1A. 2 Publications
    VAR_022470
    Natural varianti15 – 151G → E in CDG1A. 1 Publication
    VAR_022471
    Natural varianti20 – 201P → S in CDG1A; reduction of activity. 1 Publication
    VAR_022472
    Natural varianti32 – 321L → R in CDG1A. 2 Publications
    VAR_022473
    Natural varianti37 – 371Q → H in CDG1A; partial loss of activity. 1 Publication
    VAR_022474
    Natural varianti37 – 371Q → L.
    Corresponds to variant rs2304472 [ dbSNP | Ensembl ].
    VAR_022133
    Natural varianti42 – 421G → R.2 Publications
    VAR_022475
    Natural varianti44 – 441V → A in CDG1A. 2 Publications
    VAR_006093
    Natural varianti44 – 441V → L in CDG1A. 1 Publication
    VAR_022563
    Natural varianti64 – 641Y → C in CDG1A. 1 Publication
    VAR_022476
    Natural varianti65 – 651D → Y in CDG1A. 2 Publications
    VAR_006094
    Natural varianti67 – 671V → M in CDG1A. 2 Publications
    VAR_022477
    Natural varianti69 – 691P → S in CDG1A. 2 Publications
    VAR_022478
    Natural varianti76 – 761Y → C in CDG1A. 1 Publication
    VAR_022479
    Natural varianti93 – 931E → A in CDG1A. 1 Publication
    VAR_022480
    Natural varianti101 – 1011N → K in CDG1A. 1 Publication
    VAR_006095
    Natural varianti103 – 1031C → F in CDG1A. 2 Publications
    VAR_022481
    Natural varianti104 – 1041L → V in CDG1A. 1 Publication
    VAR_012344
    Natural varianti106 – 1061Y → C in CDG1A. 1 Publication
    VAR_006096
    Natural varianti108 – 1081A → V in CDG1A. 2 Publications
    VAR_006097
    Natural varianti113 – 1131P → L in CDG1A. 3 Publications
    VAR_006098
    Natural varianti117 – 1171G → R in CDG1A; loss of activity. 3 Publications
    VAR_006099
    Natural varianti119 – 1191F → L in CDG1A; partial loss of activity. 4 Publications
    VAR_006100
    Natural varianti120 – 1201I → T in CDG1A. 1 Publication
    VAR_022482
    Natural varianti123 – 1231R → Q in CDG1A. 3 Publications
    VAR_006101
    Natural varianti129 – 1291V → M in CDG1A. 3 Publications
    Corresponds to variant rs28938475 [ dbSNP | Ensembl ].
    VAR_006102
    Natural varianti131 – 1311P → A in CDG1A. 2 Publications
    VAR_006103
    Natural varianti132 – 1321I → F in CDG1A; slightly reduced activity. 1 Publication
    VAR_022483
    Natural varianti132 – 1321I → N in CDG1A. 2 Publications
    VAR_022484
    Natural varianti132 – 1321I → T in CDG1A. 2 Publications
    VAR_006104
    Natural varianti139 – 1391E → 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 Publications
    VAR_009232
    Natural varianti141 – 1411R → C in CDG1A; loss of activity. 1 Publication
    VAR_022485
    Natural varianti141 – 1411R → H in CDG1A; frequent mutation; loss of activity; observed in heterozygous patients; homozygosis of this mutation is incompatible with life. 5 Publications
    Corresponds to variant rs28936415 [ dbSNP | Ensembl ].
    VAR_006105
    Natural varianti144 – 1441F → L in CDG1A. 1 Publication
    Corresponds to variant rs150719105 [ dbSNP | Ensembl ].
    VAR_022486
    Natural varianti148 – 1481D → N in CDG1A. 2 Publications
    VAR_022487
    Natural varianti151 – 1511E → G in CDG1A. 1 Publication
    VAR_022488
    Natural varianti153 – 1531I → T in CDG1A. 2 Publications
    VAR_022489
    Natural varianti157 – 1571F → S in CDG1A. 2 Publications
    Corresponds to variant rs190521996 [ dbSNP | Ensembl ].
    VAR_022490
    Natural varianti162 – 1621R → W in CDG1A. 2 Publications
    VAR_006106
    Natural varianti172 – 1721F → V in CDG1A. 2 Publications
    VAR_022491
    Natural varianti175 – 1751G → R in CDG1A. 2 Publications
    VAR_006107
    Natural varianti176 – 1761G → V in CDG1A; loss of activity. 1 Publication
    VAR_022492
    Natural varianti177 – 1771Q → H in CDG1A; partial loss of activity. 1 Publication
    VAR_022493
    Natural varianti183 – 1831F → S in CDG1A. 3 Publications
    VAR_022494
    Natural varianti185 – 1851D → G in CDG1A. 2 Publications
    VAR_022495
    Natural varianti188 – 1881D → G in CDG1A; severe. 1 Publication
    VAR_006108
    Natural varianti192 – 1921C → G in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 3 Publications
    VAR_022496
    Natural varianti195 – 1951H → R in CDG1A. 1 Publication
    VAR_022497
    Natural varianti197 – 1971E → A in CDG1A. 2 Publications
    Corresponds to variant rs34258285 [ dbSNP | Ensembl ].
    VAR_022498
    Natural varianti206 – 2061F → S in CDG1A. 1 Publication
    VAR_022499
    Natural varianti208 – 2081G → A in CDG1A. 2 Publications
    VAR_006109
    Natural varianti212 – 2121M → V.
    Corresponds to variant rs3743808 [ dbSNP | Ensembl ].
    VAR_022134
    Natural varianti214 – 2141G → S in CDG1A. 2 Publications
    VAR_022500
    Natural varianti216 – 2161N → I in CDG1A. 1 Publication
    Corresponds to variant rs78290141 [ dbSNP | Ensembl ].
    VAR_006110
    Natural varianti216 – 2161N → S in CDG1A. 2 Publications
    Corresponds to variant rs78290141 [ dbSNP | Ensembl ].
    VAR_022501
    Natural varianti217 – 2171D → E in CDG1A. 2 Publications
    VAR_022502
    Natural varianti218 – 2181H → L in CDG1A. 1 Publication
    VAR_022503
    Natural varianti223 – 2231D → E in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 3 Publications
    VAR_006111
    Natural varianti223 – 2231D → N in CDG1A. 1 Publication
    VAR_022504
    Natural varianti226 – 2261T → S in CDG1A. 2 Publications
    VAR_022505
    Natural varianti228 – 2281G → C in CDG1A. 1 Publication
    VAR_022506
    Natural varianti228 – 2281G → R in CDG1A. 2 Publications
    VAR_022507
    Natural varianti229 – 2291Y → S in CDG1A. 2 Publications
    VAR_006112
    Natural varianti231 – 2311V → M in CDG1A. 5 Publications
    VAR_006113
    Natural varianti233 – 2331A → T in CDG1A; unknown pathological significance. 1 Publication
    VAR_006114
    Natural varianti237 – 2371T → M in CDG1A. 3 Publications
    Corresponds to variant rs80338708 [ dbSNP | Ensembl ].
    VAR_006115
    Natural varianti237 – 2371T → R in CDG1A; loss of activity. 3 Publications
    Corresponds to variant rs80338708 [ dbSNP | Ensembl ].
    VAR_022508
    Natural varianti238 – 2381R → G in CDG1A. 1 Publication
    VAR_022509
    Natural varianti238 – 2381R → P in CDG1A. 1 Publication
    VAR_006116
    Natural varianti241 – 2411C → S in CDG1A. 2 Publications
    VAR_022510

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei117 – 1193GTF → KKI in isoform 2. 1 PublicationVSP_056228
    Alternative sequencei120 – 246127Missing in isoform 2. 1 PublicationVSP_056229Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    RefSeqiNP_000294.1. NM_000303.2.
    UniGeneiHs.625732.

    Genome annotation databases

    EnsembliENST00000268261; ENSP00000268261; ENSG00000140650.
    ENST00000566604; ENSP00000456774; ENSG00000140650.
    GeneIDi5373.
    KEGGihsa:5373.
    UCSCiuc002czf.4. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS10536.1.
    RefSeqi NP_000294.1. NM_000303.2.
    UniGenei Hs.625732.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2AMY X-ray 2.09 A 2-246 [» ]
    2Q4R X-ray 2.09 A 2-246 [» ]
    ProteinModelPortali O15305.
    SMRi O15305. Positions 4-246.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111386. 3 interactions.
    STRINGi 9606.ENSP00000268261.

    Chemistry

    BindingDBi O15305.
    ChEMBLi CHEMBL1741162.

    PTM databases

    PhosphoSitei O15305.

    Proteomic databases

    MaxQBi O15305.
    PaxDbi O15305.
    PeptideAtlasi O15305.
    PRIDEi O15305.

    Protocols and materials databases

    DNASUi 5373.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000268261 ; ENSP00000268261 ; ENSG00000140650 .
    ENST00000566604 ; ENSP00000456774 ; ENSG00000140650 .
    GeneIDi 5373.
    KEGGi hsa:5373.
    UCSCi uc002czf.4. human.

    Organism-specific databases

    CTDi 5373.
    GeneCardsi GC16P008799.
    GeneReviewsi PMM2.
    HGNCi HGNC:9115. PMM2.
    HPAi HPA040852.
    MIMi 212065. phenotype.
    601785. gene.
    neXtProti NX_O15305.
    Orphaneti 79318. PMM2-CDG.
    PharmGKBi PA33441.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0561.
    HOGENOMi HOG000181843.
    HOVERGENi HBG009971.
    InParanoidi O15305.
    KOi K17497.
    OMAi TYCLQHV.
    PhylomeDBi O15305.
    TreeFami TF300874.

    Enzyme and pathway databases

    UniPathwayi UPA00126 ; UER00424 .
    BRENDAi 5.4.2.8. 2681.
    Reactomei REACT_22423. Synthesis of GDP-mannose.
    SABIO-RK O15305.

    Miscellaneous databases

    ChiTaRSi PMM2. human.
    EvolutionaryTracei O15305.
    GeneWikii PMM2.
    GenomeRNAii 5373.
    NextBioi 20846.
    PROi O15305.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O15305.
    Bgeei O15305.
    CleanExi HS_PMM2.
    Genevestigatori O15305.

    Family and domain databases

    Gene3Di 3.40.50.1000. 2 hits.
    InterProi IPR023214. HAD-like_dom.
    IPR006379. HAD-SF_hydro_IIB.
    IPR005002. PMM.
    [Graphical view ]
    PANTHERi PTHR10466. PTHR10466. 1 hit.
    Pfami PF03332. PMM. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56784. SSF56784. 1 hit.
    TIGRFAMsi TIGR01484. HAD-SF-IIB. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)."
      Matthijs G., Schollen E., Pardon E., Veiga-Da-Cunha M., Jaeken J., Cassiman J.-J., van Schaftingen E.
      Nat. Genet. 16:88-92(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS CDG1A.
    2. "Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene."
      Schollen E., Pardon E., Heykants L., Renard J., Doggett N.A., Callen D.F., Cassiman J.J., Matthijs G.
      Hum. Mol. Genet. 7:157-164(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Placenta.
    4. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Pancreas.
    7. "The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a."
      Silvaggi N.R., Zhang C., Lu Z., Dai J., Dunaway-Mariano D., Allen K.N.
      J. Biol. Chem. 281:14918-14926(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: BIOPHYSICOCHEMICAL PROPERTIES.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
      Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Ensemble refinement of protein crystal structures: validation and application."
      Levin E.J., Kondrashov D.A., Wesenberg G.E., Phillips G.N. Jr.
      Structure 15:1040-1052(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.09 ANGSTROMS).
    12. "X-ray structure of human phosphomannomutase 2 (PMM2)."
      Center for eukaryotic structural genomics (CESG)
      Submitted (FEB-2009) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (2.09 ANGSTROMS).
    13. "Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)."
      Matthijs G., Schollen E., Heykants L., Gruenewald S.
      Mol. Genet. Metab. 68:220-226(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS CDG1A.
    14. "Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A."
      Matthijs G., Schollen E., van Schaftingen E., Cassiman J.-J., Jaeken J.
      Am. J. Hum. Genet. 62:542-550(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDG1A.
    15. "Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1."
      Kjaergaard S., Skovby F., Schwartz M.
      Eur. J. Hum. Genet. 6:331-336(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDG1A ARG-117 AND GLU-223.
    16. "Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1."
      Kondo I., Mizugishi K., Yoneda Y., Hashimoto T., Kuwajima K., Yuasa I., Shigemoto K., Kuroda Y.
      Clin. Genet. 55:50-54(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDG1A LEU-144; SER-229 AND PRO-238.
    17. "Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli."
      Kjaergaard S., Skovby F., Schwartz M.
      Eur. J. Hum. Genet. 7:884-888(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDG1A GLY-192, CHARACTERIZATION OF VARIANTS CDG1A ARG-117; LEU-119; HIS-141; GLY-192; GLU-223 AND ARG-237.
    18. "Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping."
      Vuillaumier-Barrot S., Barnier A., Cuer M., Durand G., Grandchamp B., Seta N.
      Hum. Mutat. 14:543-544(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDG1A LYS-139 AND HIS-141.
    19. Cited for: VARIANTS CDG1A TYR-9; CYS-11; ARG-32; ALA-44; TYR-65; MET-67; SER-69; CYS-76; LYS-101; PHE-103; CYS-106; VAL-108; LEU-113; ARG-117; LEU-119; THR-120; GLN-123; MET-129; ALA-131; ASN-132; THR-132; LYS-139; HIS-141; ASN-148; GLY-151; THR-153; SER-157; TRP-162; VAL-172; ARG-175; SER-183; GLY-185; GLY-188; GLY-192; ARG-195; ALA-197; SER-206; ALA-208; ILE-216; SER-216; GLU-217; LEU-218; GLU-223; SER-226; ARG-228; CYS-228; SER-229; MET-231; THR-233; ARG-237; MET-237; GLY-238 AND SER-241.
    20. "PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families."
      Bjursell C., Erlandson A., Nordling M., Nilsson S., Wahlstroem J., Stibler H., Kristiansson B., Martinsson T.
      Hum. Mutat. 16:395-400(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDG1A TYR-9; CYS-11; MET-67; LEU-113; ARG-117; LEU-119; GLN-123; MET-129; HIS-141; VAL-172; ARG-175; SER-183; GLY-185; GLY-192; SER-216; GLU-217; GLU-223; ARG-228; MET-231 AND ARG-237.
    21. "Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1."
      Imtiaz F., Worthington V., Champion M., Beesley C., Charlwood J., Clayton P., Keir G., Mian N., Winchester B.
      J. Inherit. Metab. Dis. 23:162-174(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDG1A LEU-119; ASN-132; HIS-141; ASN-148; SER-183; ALA-208; MET-231 AND MET-237.
    22. "Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry."
      Westphal V., Enns G.M., McCracken M.F., Freeze H.H.
      Mol. Genet. Metab. 73:71-76(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDG1A VAL-104.
    23. "DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)."
      Schollen E., Martens K., Geuzens E., Matthijs G.
      Eur. J. Hum. Genet. 10:643-648(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDG1A GLU-15; CYS-64; ALA-93; SER-214 AND ASN-223, VARIANT ARG-42.
    24. "A new insight into PMM2 mutations in the French population."
      Le Bizec C., Vuillaumier-Barrot S., Barnier A., Dupre T., Durand G., Seta N.
      Hum. Mutat. 25:504-505(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDG1A TYR-9; SER-20; ARG-32; HIS-37; LEU-44; TYR-65; SER-69; PHE-103; VAL-108; LEU-113; LEU-119; GLN-123; MET-129; ALA-131; THR-132; PHE-132; LYS-139; CYS-141; HIS-141; THR-153; SER-157; TRP-162; VAL-176; HIS-177; ALA-197; SER-214; SER-226; MET-231; ARG-237; MET-237 AND SER-241, VARIANT ARG-42, CHARACTERIZATION OF VARIANTS CDG1A SER-20; HIS-37; PHE-132; LYS-139; CYS-141; HIS-141; VAL-176 AND HIS-177.
    25. Cited for: VARIANTS CDG1A ALA-44 AND MET-231.

    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: October 1, 2014
    This is version 157 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

    External Data

    Dasty 3