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Protein

GPI mannosyltransferase 4

Gene

PIGZ

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

Functioni

Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers a fourth mannose to some trimannosyl-GPIs during GPI precursor assembly. The presence of a fourth mannose in GPI is facultative and only scarcely detected, suggesting that it only exists in some tissues.1 Publication

Caution

It is uncertain whether Met-1 or Met-32 is the initiator.Curated

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

  • alpha-1,2-mannosyltransferase activity Source: UniProtKB
  • mannosyltransferase activity Source: UniProtKB

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

CAZyiGT22 Glycosyltransferase Family 22

Names & Taxonomyi

Protein namesi
Recommended name:
GPI mannosyltransferase 4 (EC:2.4.1.-)
Alternative name(s):
GPI mannosyltransferase IV
Short name:
GPI-MT-IV
Phosphatidylinositol-glycan biosynthesis class Z protein
Short name:
PIG-Z
SMP3 homolog
Short name:
hSMP3
Gene namesi
Name:PIGZ
Synonyms:SMP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000119227.7
HGNCiHGNC:30596 PIGZ
MIMi611671 gene
neXtProtiNX_Q86VD9

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
Transmembranei131 – 151HelicalSequence analysisAdd BLAST21
Transmembranei156 – 173HelicalSequence analysisAdd BLAST18
Transmembranei180 – 200HelicalSequence analysisAdd BLAST21
Transmembranei216 – 236HelicalSequence analysisAdd BLAST21
Transmembranei258 – 278HelicalSequence analysisAdd BLAST21
Transmembranei369 – 389HelicalSequence analysisAdd BLAST21
Transmembranei391 – 411HelicalSequence analysisAdd BLAST21
Transmembranei416 – 436HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000119227
PharmGKBiPA142671171

Polymorphism and mutation databases

DMDMi311033491

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002462681 – 579GPI mannosyltransferase 4Add BLAST579

Proteomic databases

PaxDbiQ86VD9
PeptideAtlasiQ86VD9
PRIDEiQ86VD9
ProteomicsDBi69989

PTM databases

iPTMnetiQ86VD9
PhosphoSitePlusiQ86VD9

Expressioni

Tissue specificityi

Widely expressed at low level, with highest level in brain and colon.1 Publication

Gene expression databases

BgeeiENSG00000119227 Expressed in 173 organ(s), highest expression level in colonic mucosa
CleanExiHS_PIGZ
ExpressionAtlasiQ86VD9 baseline and differential
GenevisibleiQ86VD9 HS

Organism-specific databases

HPAiHPA058599
HPA059920

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000413405

Structurei

3D structure databases

ProteinModelPortaliQ86VD9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4123 Eukaryota
ENOG410XTCB LUCA
GeneTreeiENSGT00390000003227
HOGENOMiHOG000121777
InParanoidiQ86VD9
KOiK08098
OMAiFPLWPVY
OrthoDBiEOG091G04TT
PhylomeDBiQ86VD9
TreeFamiTF324461

Family and domain databases

InterProiView protein in InterPro
IPR005599 GPI_mannosylTrfase
PANTHERiPTHR22760 PTHR22760, 1 hit
PfamiView protein in Pfam
PF03901 Glyco_transf_22, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q86VD9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MQICGSSVAS VAAGTSFQVL GPVCWQQLDL KMAVRVLWGG LSLLRVLWCL
60 70 80 90 100
LPQTGYVHPD EFFQSPEVMA EDILGVQAAR PWEFYPSSSC RSVLFPLLIS
110 120 130 140 150
GSTFWLLRLW EELGPWPGLV SGYALLVGPR LLLTALSFAL DGAVYHLAPP
160 170 180 190 200
MGADRWNALA LLSGSYVTLV FYTRTFSNTI EGLLFTWLLV LVSSHVTWGP
210 220 230 240 250
TRKEPAPGPR WRSWLLGGIV AAGFFNRPTF LAFAVVPLYL WGTRGATNPG
260 270 280 290 300
LKSLTREALV LLPGAALTAA VFVATDSWYF SSPATSRNLV LTPVNFLHYN
310 320 330 340 350
LNPQNLARHG THARLTHLAV NGFLLFGVLH AQALQAAWQR LQVGLQASAQ
360 370 380 390 400
MGLLRALGAR SLLSSPRSYL LLLYFMPLAL LSAFSHQEAR FLIPLLVPLV
410 420 430 440 450
LLCSPQTQPV PWKGTVVLFN ALGALLFGCL HQGGLVPGLE YLEQVVHAPV
460 470 480 490 500
LPSTPTHYTL LFTHTYMPPR HLLHLPGLGA PVEVVDMGGT EDWALCQTLK
510 520 530 540 550
SFTRQPACQV AGGPWLCRLF VVTPGTTRRA VEKCSFPFKN ETLLFPHLTL
560 570
EDPPALSSLL SGAWRDHLSL HIVELGEET
Length:579
Mass (Da):63,471
Last modified:November 2, 2010 - v4
Checksum:i684FD8293BD09909
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C2E0H7C2E0_HUMAN
Mannosyltransferase
PIGZ
49Annotation score:
C9JQX2C9JQX2_HUMAN
Mannosyltransferase
PIGZ
92Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054965266A → T2 PublicationsCorresponds to variant dbSNP:rs574365Ensembl.1
Natural variantiVAR_027032340R → Q2 PublicationsCorresponds to variant dbSNP:rs4916589Ensembl.1
Natural variantiVAR_027033417V → A. Corresponds to variant dbSNP:rs1147238Ensembl.1
Natural variantiVAR_027034487M → I1 PublicationCorresponds to variant dbSNP:rs17855662Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022830 mRNA Translation: BAB14263.1
AC011322 Genomic DNA No translation available.
BC044640 mRNA Translation: AAH44640.1
CCDSiCCDS3324.1
RefSeqiNP_079439.2, NM_025163.3
UniGeneiHs.518403

Genome annotation databases

EnsembliENST00000412723; ENSP00000413405; ENSG00000119227
GeneIDi80235
KEGGihsa:80235
UCSCiuc003fxh.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022830 mRNA Translation: BAB14263.1
AC011322 Genomic DNA No translation available.
BC044640 mRNA Translation: AAH44640.1
CCDSiCCDS3324.1
RefSeqiNP_079439.2, NM_025163.3
UniGeneiHs.518403

3D structure databases

ProteinModelPortaliQ86VD9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000413405

Protein family/group databases

CAZyiGT22 Glycosyltransferase Family 22

PTM databases

iPTMnetiQ86VD9
PhosphoSitePlusiQ86VD9

Polymorphism and mutation databases

DMDMi311033491

Proteomic databases

PaxDbiQ86VD9
PeptideAtlasiQ86VD9
PRIDEiQ86VD9
ProteomicsDBi69989

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000412723; ENSP00000413405; ENSG00000119227
GeneIDi80235
KEGGihsa:80235
UCSCiuc003fxh.5 human

Organism-specific databases

CTDi80235
EuPathDBiHostDB:ENSG00000119227.7
GeneCardsiPIGZ
H-InvDBiHIX0200490
HGNCiHGNC:30596 PIGZ
HPAiHPA058599
HPA059920
MIMi611671 gene
neXtProtiNX_Q86VD9
OpenTargetsiENSG00000119227
PharmGKBiPA142671171
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4123 Eukaryota
ENOG410XTCB LUCA
GeneTreeiENSGT00390000003227
HOGENOMiHOG000121777
InParanoidiQ86VD9
KOiK08098
OMAiFPLWPVY
OrthoDBiEOG091G04TT
PhylomeDBiQ86VD9
TreeFamiTF324461

Enzyme and pathway databases

UniPathwayi
UPA00196

ReactomeiR-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)

Miscellaneous databases

GenomeRNAii80235
PROiPR:Q86VD9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119227 Expressed in 173 organ(s), highest expression level in colonic mucosa
CleanExiHS_PIGZ
ExpressionAtlasiQ86VD9 baseline and differential
GenevisibleiQ86VD9 HS

Family and domain databases

InterProiView protein in InterPro
IPR005599 GPI_mannosylTrfase
PANTHERiPTHR22760 PTHR22760, 1 hit
PfamiView protein in Pfam
PF03901 Glyco_transf_22, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPIGZ_HUMAN
AccessioniPrimary (citable) accession number: Q86VD9
Secondary accession number(s): Q9H9G6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: November 2, 2010
Last modified: September 12, 2018
This is version 110 of the entry and version 4 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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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