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O15305

- PMM2_HUMAN

UniProt

O15305 - PMM2_HUMAN

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Protein
Phosphomannomutase 2
Gene
PMM2
Organism
Homo sapiens (Human)
Status
Reviewed - 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-phosphate

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei12 – 121Nucleophile By similarity
Active sitei14 – 141Proton donor/acceptor Reviewed prediction
Binding sitei21 – 211Substrate By similarity
Binding sitei123 – 1231Substrate By similarity
Binding sitei134 – 1341Substrate By similarity
Binding sitei141 – 1411Substrate By similarity
Binding sitei179 – 1791Substrate By similarity
Binding sitei181 – 1811Substrate By similarity

GO - Molecular functioni

  1. phosphomannomutase activity Source: ProtInc

GO - Biological processi

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

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.13 Publications
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. 4 Publications
VAR_006099
Natural varianti119 – 1191F → L in CDG1A; partial loss of activity. 5 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. 6 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. 4 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. 4 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 – 11Removed1 Publication
Chaini2 – 246245Phosphomannomutase 2
PRO_0000199694Add
BLAST

Amino acid modifications

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

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.

Miscellaneous databases

EvolutionaryTraceiO15305.

Family & Domainsi

Sequence similaritiesi

Belongs to the eukaryotic PMM family.

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.

Sequencei

Sequence statusi: Complete.

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

O15305-1 [UniParc]FASTAAdd to Basket

« 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

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. 4 Publications
VAR_006099
Natural varianti119 – 1191F → L in CDG1A; partial loss of activity. 5 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. 6 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. 4 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. 4 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

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.
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.
GeneIDi5373.
KEGGihsa:5373.
UCSCiuc002czf.4. human.

Keywords - Coding sequence diversityi

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 .
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 .
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

« Hide 'large scale' publications
  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], 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].
    Tissue: Placenta.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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].
    Tissue: Pancreas.
  6. "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.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "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].
  9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "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).
  11. "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).
  12. "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.
  13. "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.
  14. "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.
  15. "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.
  16. "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.
  17. "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.
  18. 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.
  19. "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.
  20. "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.
  21. "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.
  22. "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.
  23. "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.
  24. Cited for: VARIANTS CDG1A ALA-44 AND MET-231.

Entry informationi

Entry nameiPMM2_HUMAN
AccessioniPrimary (citable) accession number: O15305
Secondary accession number(s): A8K672, D3DUF3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: September 3, 2014
This is version 156 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

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