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Protein

GPI mannosyltransferase 1

Gene

PIGM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

GPI-anchor biosynthesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143315-MONOMER.
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

HGNCiHGNC:18858. PIGM.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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

EPDiQ9H3S5.
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. 13 interactors.
IntActiQ9H3S5. 1 interactor.
STRINGi9606.ENSP00000357069.

Structurei

3D structure databases

ProteinModelPortaliQ9H3S5.
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

InterProiIPR007704. Mannosyltransferase_DXD.
[Graphical view]
PANTHERiPTHR12886. PTHR12886. 1 hit.
PfamiPF05007. Mannosyl_trans. 1 hit.
[Graphical view]

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 rs12409352dbSNPEnsembl.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. Translation: CAH71492.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB028127 mRNA. Translation: BAB18567.1.
AK074655 mRNA. Translation: BAC11116.1.
AL513302 Genomic DNA. Translation: CAH71492.1.
BC001803 mRNA. Translation: AAH01803.1.
BC019865 mRNA. Translation: AAH19865.1.
CCDSiCCDS1192.1.
RefSeqiNP_660150.1. NM_145167.2.
UniGeneiHs.552810.

3D structure databases

ProteinModelPortaliQ9H3S5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125010. 13 interactors.
IntActiQ9H3S5. 1 interactor.
STRINGi9606.ENSP00000357069.

Protein family/group databases

CAZyiGT50. Glycosyltransferase Family 50.

PTM databases

iPTMnetiQ9H3S5.
PhosphoSitePlusiQ9H3S5.

Polymorphism and mutation databases

BioMutaiPIGM.
DMDMi74752622.

Proteomic databases

EPDiQ9H3S5.
MaxQBiQ9H3S5.
PaxDbiQ9H3S5.
PeptideAtlasiQ9H3S5.
PRIDEiQ9H3S5.

Protocols and materials databases

DNASUi93183.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi93183.
DisGeNETi93183.
GeneCardsiPIGM.
HGNCiHGNC:18858. PIGM.
HPAiHPA047418.
MalaCardsiPIGM.
MIMi610273. gene.
610293. phenotype.
neXtProtiNX_Q9H3S5.
OpenTargetsiENSG00000143315.
Orphaneti83639. Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency.
PharmGKBiPA38718.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00196.
BioCyciZFISH:ENSG00000143315-MONOMER.
ReactomeiR-HSA-162710. Synthesis of glycosylphosphatidylinositol (GPI).

Miscellaneous databases

ChiTaRSiPIGM. human.
GenomeRNAii93183.
PROiQ9H3S5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143315.
CleanExiHS_PIGM.
GenevisibleiQ9H3S5. HS.

Family and domain databases

InterProiIPR007704. Mannosyltransferase_DXD.
[Graphical view]
PANTHERiPTHR12886. PTHR12886. 1 hit.
PfamiPF05007. Mannosyl_trans. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPIGM_HUMAN
AccessioniPrimary (citable) accession number: Q9H3S5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 123 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.