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Protein

GPI mannosyltransferase 2

Gene

PIGV

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionGlycosyltransferase, Transferase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)
UniPathwayi
UPA00196

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

EuPathDBiHostDB:ENSG00000060642.10
HGNCiHGNC:26031 PIGV
MIMi610274 gene
neXtProtiNX_Q9NUD9

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 – 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

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 dbSNP:rs267606952EnsemblClinVar.1
Natural variantiVAR_064191341A → E in HPMRS1. 1 PublicationCorresponds to variant dbSNP:rs139073416EnsemblClinVar.1
Natural variantiVAR_064192341A → V in HPMRS1. 1 PublicationCorresponds to variant dbSNP:rs139073416EnsemblClinVar.1
Natural variantiVAR_064193385H → P in HPMRS1. 1 PublicationCorresponds to variant dbSNP:rs267606951EnsemblClinVar.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
PeptideAtlasiQ9NUD9
PRIDEiQ9NUD9
ProteomicsDBi82666

PTM databases

iPTMnetiQ9NUD9
PhosphoSitePlusiQ9NUD9

Expressioni

Gene expression databases

BgeeiENSG00000060642 Expressed in 220 organ(s), highest expression level in liver
CleanExiHS_PIGV
ExpressionAtlasiQ9NUD9 baseline and differential
GenevisibleiQ9NUD9 HS

Organism-specific databases

HPAiHPA054181

Interactioni

Protein-protein interaction databases

BioGridi120782, 1 interactor
STRINGi9606.ENSP00000078527

Structurei

3D structure databases

ProteinModelPortaliQ9NUD9
SMRiQ9NUD9
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
OMAiHIQVSTR
OrthoDBiEOG091G05ZJ
PhylomeDBiQ9NUD9
TreeFamiTF314515

Family and domain databases

InterProiView protein in InterPro
IPR007315 PIG-V/Gpi18
PANTHERiPTHR12468 PTHR12468, 1 hit
PfamiView protein in Pfam
PF04188 Mannosyl_trans2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MSX6A0A0A0MSX6_HUMAN
GPI mannosyltransferase 2
PIGV
182Annotation score:
A0A0A0MSQ1A0A0A0MSQ1_HUMAN
GPI mannosyltransferase 2
PIGV
72Annotation score:
X1WI27X1WI27_HUMAN
GPI mannosyltransferase 2
PIGV
120Annotation score:
E9PQC7E9PQC7_HUMAN
GPI mannosyltransferase 2
PIGV
74Annotation score:

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 dbSNP:rs267606952EnsemblClinVar.1
Natural variantiVAR_064191341A → E in HPMRS1. 1 PublicationCorresponds to variant dbSNP:rs139073416EnsemblClinVar.1
Natural variantiVAR_064192341A → V in HPMRS1. 1 PublicationCorresponds to variant dbSNP:rs139073416EnsemblClinVar.1
Natural variantiVAR_064193385H → P in HPMRS1. 1 PublicationCorresponds to variant dbSNP:rs267606951EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000484 mRNA Translation: BAA91196.1
AL034380 Genomic DNA No translation available.
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

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000484 mRNA Translation: BAA91196.1
AL034380 Genomic DNA No translation available.
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
SMRiQ9NUD9
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
PeptideAtlasiQ9NUD9
PRIDEiQ9NUD9
ProteomicsDBi82666

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
EuPathDBiHostDB:ENSG00000060642.10
GeneCardsiPIGV
H-InvDBiHIX0159960
HGNCiHGNC:26031 PIGV
HPAiHPA054181
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
OMAiHIQVSTR
OrthoDBiEOG091G05ZJ
PhylomeDBiQ9NUD9
TreeFamiTF314515

Enzyme and pathway databases

UniPathwayi
UPA00196

ReactomeiR-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)

Miscellaneous databases

GeneWikiiPIGV
GenomeRNAii55650
PROiPR:Q9NUD9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000060642 Expressed in 220 organ(s), highest expression level in liver
CleanExiHS_PIGV
ExpressionAtlasiQ9NUD9 baseline and differential
GenevisibleiQ9NUD9 HS

Family and domain databases

InterProiView protein in InterPro
IPR007315 PIG-V/Gpi18
PANTHERiPTHR12468 PTHR12468, 1 hit
PfamiView protein in Pfam
PF04188 Mannosyl_trans2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPIGV_HUMAN
AccessioniPrimary (citable) accession number: Q9NUD9
Secondary accession number(s): D3DPL2
, Q5JYG7, Q5JYG8, Q5JYG9, Q9NX26
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: October 1, 2000
Last modified: September 12, 2018
This is version 125 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

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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Main funding by: National Institutes of Health

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