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Protein

GPI mannosyltransferase 1

Gene

PIGM

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

Functioni

Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly.1 Publication

Pathwayi: glycosylphosphatidylinositol-anchor biosynthesis

This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)
UniPathwayiUPA00196

Protein family/group databases

CAZyiGT50 Glycosyltransferase Family 50

Names & Taxonomyi

Protein namesi
Recommended name:
GPI mannosyltransferase 1 (EC:2.4.1.-)
Alternative name(s):
GPI mannosyltransferase I
Short name:
GPI-MT-I
Phosphatidylinositol-glycan biosynthesis class M protein
Short name:
PIG-M
Gene namesi
Name:PIGM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000143315.6
HGNCiHGNC:18858 PIGM
MIMi610273 gene
neXtProtiNX_Q9H3S5

Subcellular locationi

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 17CytoplasmicSequence analysisAdd BLAST17
Transmembranei18 – 38HelicalSequence analysisAdd BLAST21
Topological domaini39 – 79LumenalSequence analysisAdd BLAST41
Transmembranei80 – 100HelicalSequence analysisAdd BLAST21
Topological domaini101 – 138CytoplasmicSequence analysisAdd BLAST38
Transmembranei139 – 161HelicalSequence analysisAdd BLAST23
Topological domaini162 – 169LumenalSequence analysis8
Transmembranei170 – 190HelicalSequence analysisAdd BLAST21
Topological domaini191 – 225CytoplasmicSequence analysisAdd BLAST35
Transmembranei226 – 246HelicalSequence analysisAdd BLAST21
Topological domaini247 – 287LumenalSequence analysisAdd BLAST41
Transmembranei288 – 308HelicalSequence analysisAdd BLAST21
Topological domaini309 – 314CytoplasmicSequence analysis6
Transmembranei315 – 337HelicalSequence analysisAdd BLAST23
Topological domaini338LumenalSequence analysis1
Transmembranei339 – 350HelicalSequence analysisAdd BLAST12
Topological domaini351 – 357CytoplasmicSequence analysis7
Transmembranei358 – 378HelicalSequence analysisAdd BLAST21
Topological domaini379 – 384LumenalSequence analysis6
Transmembranei385 – 405HelicalSequence analysisAdd BLAST21
Topological domaini406 – 423CytoplasmicSequence analysisAdd BLAST18

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Glycosylphosphatidylinositol deficiency (GPID)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive trait that results in a propensity to venous thrombosis and seizures. Deficiency is due to a point mutation in the regulatory sequences of PIGM that disrupts binding of the transcription factor SP1 to its cognate promoter motif, leading to a strong reduction of expression.
See also OMIM:610293

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi49D → A: Almost abolishes enzyme activity. 1 Publication1
Mutagenesisi51D → A: Abolishes enzyme activity. 1 Publication1

Organism-specific databases

DisGeNETi93183
MalaCardsiPIGM
MIMi610293 phenotype
OpenTargetsiENSG00000143315
Orphaneti83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
PharmGKBiPA38718

Polymorphism and mutation databases

BioMutaiPIGM
DMDMi74752622

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002462131 – 423GPI mannosyltransferase 1Add BLAST423

Proteomic databases

MaxQBiQ9H3S5
PaxDbiQ9H3S5
PeptideAtlasiQ9H3S5
PRIDEiQ9H3S5

PTM databases

iPTMnetiQ9H3S5
PhosphoSitePlusiQ9H3S5

Expressioni

Gene expression databases

BgeeiENSG00000143315
CleanExiHS_PIGM
GenevisibleiQ9H3S5 HS

Organism-specific databases

HPAiHPA047418

Interactioni

Protein-protein interaction databases

BioGridi125010, 17 interactors
IntActiQ9H3S5, 1 interactor
STRINGi9606.ENSP00000357069

Structurei

3D structure databases

ProteinModelPortaliQ9H3S5
SMRiQ9H3S5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PIGM family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3893 Eukaryota
ENOG410XRDY LUCA
GeneTreeiENSGT00390000017728
HOGENOMiHOG000186884
HOVERGENiHBG082137
InParanoidiQ9H3S5
KOiK05284
OMAiIQIISHY
OrthoDBiEOG091G092W
PhylomeDBiQ9H3S5
TreeFamiTF314752

Family and domain databases

InterProiView protein in InterPro
IPR007704 Mannosyltransferase_DXD
PANTHERiPTHR12886 PTHR12886, 1 hit
PfamiView protein in Pfam
PF05007 Mannosyl_trans, 1 hit

Sequencei

Sequence statusi: Complete.

Q9H3S5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGSTKHWGEW LLNLKVAPAG VFGVAFLARV ALVFYGVFQD RTLHVRYTDI
60 70 80 90 100
DYQVFTDAAR FVTEGRSPYL RATYRYTPLL GWLLTPNIYL SELFGKFLFI
110 120 130 140 150
SCDLLTAFLL YRLLLLKGLG RRQACGYCVF WLLNPLPMAV SSRGNADSIV
160 170 180 190 200
ASLVLMVLYL IKKRLVACAA VFYGFAVHMK IYPVTYILPI TLHLLPDRDN
210 220 230 240 250
DKSLRQFRYT FQACLYELLK RLCNRAVLLF VAVAGLTFFA LSFGFYYEYG
260 270 280 290 300
WEFLEHTYFY HLTRRDIRHN FSPYFYMLYL TAESKWSFSL GIAAFLPQLI
310 320 330 340 350
LLSAVSFAYY RDLVFCCFLH TSIFVTFNKV CTSQYFLWYL CLLPLVMPLV
360 370 380 390 400
RMPWKRAVVL LMLWFIGQAM WLAPAYVLEF QGKNTFLFIW LAGLFFLLIN
410 420
CSILIQIISH YKEEPLTERI KYD
Length:423
Mass (Da):49,460
Last modified:March 1, 2001 - v1
Checksum:iE17DCD8252E28EF0
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027026365F → L. Corresponds to variant dbSNP:rs12409352Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB028127 mRNA Translation: BAB18567.1
AK074655 mRNA Translation: BAC11116.1
AL513302 Genomic DNA No translation available.
BC001803 mRNA Translation: AAH01803.1
BC019865 mRNA Translation: AAH19865.1
CCDSiCCDS1192.1
RefSeqiNP_660150.1, NM_145167.2
UniGeneiHs.552810

Genome annotation databases

EnsembliENST00000368090; ENSP00000357069; ENSG00000143315
GeneIDi93183
KEGGihsa:93183
UCSCiuc001fuv.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPIGM_HUMAN
AccessioniPrimary (citable) accession number: Q9H3S5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: March 1, 2001
Last modified: January 31, 2018
This is version 130 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health