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

GPI mannosyltransferase 2

Gene

PIGV

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.2 Publications

Pathwayi: glycosylphosphatidylinositol-anchor biosynthesis

This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.1 Publication
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

  • GPI anchor biosynthetic process Source: UniProtKB
  • preassembly of GPI anchor in ER membrane Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

GPI-anchor biosynthesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000060642-MONOMER.
ReactomeiR-HSA-162710. Synthesis of glycosylphosphatidylinositol (GPI).
UniPathwayiUPA00196.

Protein family/group databases

CAZyiGT76. Glycosyltransferase Family 76.

Names & Taxonomyi

Protein namesi
Recommended name:
GPI mannosyltransferase 2 (EC:2.4.1.-)
Alternative name(s):
GPI mannosyltransferase II
Short name:
GPI-MT-II
Phosphatidylinositol-glycan biosynthesis class V protein
Short name:
PIG-V
Gene namesi
Name:PIGV
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:26031. PIGV.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 13CytoplasmicSequence analysisAdd BLAST13
Transmembranei14 – 34HelicalSequence analysisAdd BLAST21
Topological domaini35 – 77LumenalSequence analysisAdd BLAST43
Transmembranei78 – 98HelicalSequence analysisAdd BLAST21
Topological domaini99 – 113CytoplasmicSequence analysisAdd BLAST15
Transmembranei114 – 134HelicalSequence analysisAdd BLAST21
Topological domaini135 – 136LumenalSequence analysis2
Transmembranei137 – 157HelicalSequence analysisAdd BLAST21
Topological domaini158 – 161CytoplasmicSequence analysis4
Transmembranei162 – 182HelicalSequence analysisAdd BLAST21
Topological domaini183 – 192LumenalSequence analysis10
Transmembranei193 – 213HelicalSequence analysisAdd BLAST21
Topological domaini214 – 234CytoplasmicSequence analysisAdd BLAST21
Transmembranei235 – 255HelicalSequence analysisAdd BLAST21
Topological domaini256 – 327LumenalSequence analysisAdd BLAST72
Transmembranei328 – 348HelicalSequence analysisAdd BLAST21
Topological domaini349 – 378CytoplasmicSequence analysisAdd BLAST30
Transmembranei379 – 399HelicalSequence analysisAdd BLAST21
Topological domaini400 – 469LumenalSequence analysisAdd BLAST70
Transmembranei470 – 490HelicalSequence analysisAdd BLAST21
Topological domaini491 – 493CytoplasmicSequence analysis3

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: UniProtKB
  • integral component of membrane Source: UniProtKB
  • mannosyltransferase complex Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges.
See also OMIM:239300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064190256Q → K in HPMRS1. 1 PublicationCorresponds to variant rs267606952dbSNPEnsembl.1
Natural variantiVAR_064191341A → E in HPMRS1. 1 PublicationCorresponds to variant rs139073416dbSNPEnsembl.1
Natural variantiVAR_064192341A → V in HPMRS1. 1 PublicationCorresponds to variant rs139073416dbSNPEnsembl.1
Natural variantiVAR_064193385H → P in HPMRS1. 1 PublicationCorresponds to variant rs267606951dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi66W → L: Loss of function. 1 Publication1
Mutagenesisi67D → A: Loss of function. 1 Publication1
Mutagenesisi293 – 294PP → TA: N-glycosylated due to the creation of an acceptor site for N-glycosylation. 1 Publication2
Mutagenesisi308Q → A: Induces a reduces enzyme activity. 1 Publication1
Mutagenesisi312W → L: Loss of function. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi55650.
MalaCardsiPIGV.
MIMi239300. phenotype.
OpenTargetsiENSG00000060642.
Orphaneti247262. Hyperphosphatasia-intellectual disability syndrome.
PharmGKBiPA134952230.

Polymorphism and mutation databases

BioMutaiPIGV.
DMDMi74752975.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002462341 – 493GPI mannosyltransferase 2Add BLAST493

Post-translational modificationi

Not N-glycosylated.1 Publication

Proteomic databases

MaxQBiQ9NUD9.
PaxDbiQ9NUD9.
PRIDEiQ9NUD9.

PTM databases

iPTMnetiQ9NUD9.
PhosphoSitePlusiQ9NUD9.

Expressioni

Gene expression databases

BgeeiENSG00000060642.
CleanExiHS_PIGV.
ExpressionAtlasiQ9NUD9. baseline and differential.
GenevisibleiQ9NUD9. HS.

Interactioni

Protein-protein interaction databases

BioGridi120782. 1 interactor.
STRINGi9606.ENSP00000078527.

Structurei

3D structure databases

ProteinModelPortaliQ9NUD9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PIGV family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2647. Eukaryota.
COG5542. LUCA.
GeneTreeiENSGT00390000013174.
HOGENOMiHOG000232162.
HOVERGENiHBG080592.
InParanoidiQ9NUD9.
KOiK07542.
OMAiVGFLKYY.
OrthoDBiEOG091G05ZJ.
PhylomeDBiQ9NUD9.
TreeFamiTF314515.

Family and domain databases

InterProiIPR007315. PIG-V/Gpi18.
[Graphical view]
PANTHERiPTHR12468. PTHR12468. 2 hits.
PfamiPF04188. Mannosyl_trans2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9NUD9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MWPQDPSRKE VLRFAVSCRI LTLMLQALFN AIIPDHHAEA FSPPRLAPSG
60 70 80 90 100
FVDQLVEGLL GGLSHWDAEH FLFIAEHGYL YEHNFAFFPG FPLALLVGTE
110 120 130 140 150
LLRPLRGLLS LRSCLLISVA SLNFLFFMLA AVALHDLGCL VLHCPHQSFY
160 170 180 190 200
AALLFCLSPA NVFLAAGYSE ALFALLTFSA MGQLERGRVW TSVLLFAFAT
210 220 230 240 250
GVRSNGLVSV GFLMHSQCQG FFSSLTMLNP LRQLFKLMAS LFLSVFTLGL
260 270 280 290 300
PFALFQYYAY TQFCLPGSAR PIPEPLVQLA VDKGYRIAEG NEPPWCFWDV
310 320 330 340 350
PLIYSYIQDV YWNVGFLKYY ELKQVPNFLL AAPVAILVAW ATWTYVTTHP
360 370 380 390 400
WLCLTLGLQR SKNNKTLEKP DLGFLSPQVF VYVVHAAVLL LFGGLCMHVQ
410 420 430 440 450
VLTRFLGSST PIMYWFPAHL LQDQEPLLRS LKTVPWKPLA EDSPPGQKVP
460 470 480 490
RNPIMGLLYH WKTCSPVTRY ILGYFLTYWL LGLLLHCNFL PWT
Length:493
Mass (Da):55,713
Last modified:October 1, 2000 - v1
Checksum:i087AE31E51BDD519
GO

Sequence cautioni

The sequence CAI21625 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI21626 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI21627 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti33I → T in BAA91196 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064190256Q → K in HPMRS1. 1 PublicationCorresponds to variant rs267606952dbSNPEnsembl.1
Natural variantiVAR_064191341A → E in HPMRS1. 1 PublicationCorresponds to variant rs139073416dbSNPEnsembl.1
Natural variantiVAR_064192341A → V in HPMRS1. 1 PublicationCorresponds to variant rs139073416dbSNPEnsembl.1
Natural variantiVAR_064193385H → P in HPMRS1. 1 PublicationCorresponds to variant rs267606951dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000484 mRNA. Translation: BAA91196.1.
AL034380 Genomic DNA. Translation: CAB92120.1.
AL034380 Genomic DNA. Translation: CAI21625.1. Sequence problems.
AL034380 Genomic DNA. Translation: CAI21626.1. Sequence problems.
AL034380 Genomic DNA. Translation: CAI21627.1. Sequence problems.
CH471059 Genomic DNA. Translation: EAX07790.1.
CH471059 Genomic DNA. Translation: EAX07791.1.
CH471059 Genomic DNA. Translation: EAX07792.1.
BC013568 mRNA. Translation: AAH13568.1.
CCDSiCCDS287.1.
RefSeqiNP_001189483.1. NM_001202554.1.
NP_060307.2. NM_017837.3.
UniGeneiHs.259605.
Hs.732254.

Genome annotation databases

EnsembliENST00000078527; ENSP00000078527; ENSG00000060642.
ENST00000374145; ENSP00000363260; ENSG00000060642.
GeneIDi55650.
KEGGihsa:55650.
UCSCiuc001bmz.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000484 mRNA. Translation: BAA91196.1.
AL034380 Genomic DNA. Translation: CAB92120.1.
AL034380 Genomic DNA. Translation: CAI21625.1. Sequence problems.
AL034380 Genomic DNA. Translation: CAI21626.1. Sequence problems.
AL034380 Genomic DNA. Translation: CAI21627.1. Sequence problems.
CH471059 Genomic DNA. Translation: EAX07790.1.
CH471059 Genomic DNA. Translation: EAX07791.1.
CH471059 Genomic DNA. Translation: EAX07792.1.
BC013568 mRNA. Translation: AAH13568.1.
CCDSiCCDS287.1.
RefSeqiNP_001189483.1. NM_001202554.1.
NP_060307.2. NM_017837.3.
UniGeneiHs.259605.
Hs.732254.

3D structure databases

ProteinModelPortaliQ9NUD9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120782. 1 interactor.
STRINGi9606.ENSP00000078527.

Protein family/group databases

CAZyiGT76. Glycosyltransferase Family 76.

PTM databases

iPTMnetiQ9NUD9.
PhosphoSitePlusiQ9NUD9.

Polymorphism and mutation databases

BioMutaiPIGV.
DMDMi74752975.

Proteomic databases

MaxQBiQ9NUD9.
PaxDbiQ9NUD9.
PRIDEiQ9NUD9.

Protocols and materials databases

DNASUi55650.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000078527; ENSP00000078527; ENSG00000060642.
ENST00000374145; ENSP00000363260; ENSG00000060642.
GeneIDi55650.
KEGGihsa:55650.
UCSCiuc001bmz.4. human.

Organism-specific databases

CTDi55650.
DisGeNETi55650.
GeneCardsiPIGV.
H-InvDBHIX0159960.
HGNCiHGNC:26031. PIGV.
MalaCardsiPIGV.
MIMi239300. phenotype.
610274. gene.
neXtProtiNX_Q9NUD9.
OpenTargetsiENSG00000060642.
Orphaneti247262. Hyperphosphatasia-intellectual disability syndrome.
PharmGKBiPA134952230.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2647. Eukaryota.
COG5542. LUCA.
GeneTreeiENSGT00390000013174.
HOGENOMiHOG000232162.
HOVERGENiHBG080592.
InParanoidiQ9NUD9.
KOiK07542.
OMAiVGFLKYY.
OrthoDBiEOG091G05ZJ.
PhylomeDBiQ9NUD9.
TreeFamiTF314515.

Enzyme and pathway databases

UniPathwayiUPA00196.
BioCyciZFISH:ENSG00000060642-MONOMER.
ReactomeiR-HSA-162710. Synthesis of glycosylphosphatidylinositol (GPI).

Miscellaneous databases

GeneWikiiPIGV.
GenomeRNAii55650.
PROiQ9NUD9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000060642.
CleanExiHS_PIGV.
ExpressionAtlasiQ9NUD9. baseline and differential.
GenevisibleiQ9NUD9. HS.

Family and domain databases

InterProiIPR007315. PIG-V/Gpi18.
[Graphical view]
PANTHERiPTHR12468. PTHR12468. 2 hits.
PfamiPF04188. Mannosyl_trans2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPIGV_HUMAN
AccessioniPrimary (citable) accession number: Q9NUD9
Secondary accession number(s): D3DPL2
, Q5JYG7, Q5JYG8, Q5JYG9, Q9NX26
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: October 1, 2000
Last modified: November 2, 2016
This is version 118 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.