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Protein

GPI mannosyltransferase 4

Gene

PIGZ

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

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

  • GPI anchor biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

GPI-anchor biosynthesis

Enzyme and pathway databases

UniPathwayiUPA00196.

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

HGNCiHGNC:30596. PIGZ.

Subcellular locationi

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

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

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.

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.
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.
OMAiSTFWLLR.
OrthoDBiEOG091G04TT.
PhylomeDBiQ86VD9.
TreeFamiTF324461.

Family and domain databases

InterProiIPR005599. GPI_mannosylTrfase.
[Graphical view]
PANTHERiPTHR22760. PTHR22760. 2 hits.
PfamiPF03901. Glyco_transf_22. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054965266A → T.2 PublicationsCorresponds to variant rs574365dbSNPEnsembl.1
Natural variantiVAR_027032340R → Q.2 PublicationsCorresponds to variant rs4916589dbSNPEnsembl.1
Natural variantiVAR_027033417V → A.Corresponds to variant rs1147238dbSNPEnsembl.1
Natural variantiVAR_027034487M → I.1 PublicationCorresponds to variant rs17855662dbSNPEnsembl.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

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.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi80235.
GeneCardsiPIGZ.
H-InvDBHIX0200490.
HGNCiHGNC:30596. PIGZ.
HPAiHPA058599.
HPA059920.
MIMi611671. gene.
neXtProtiNX_Q86VD9.
OpenTargetsiENSG00000119227.
PharmGKBiPA142671171.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4123. Eukaryota.
ENOG410XTCB. LUCA.
GeneTreeiENSGT00390000003227.
HOGENOMiHOG000121777.
InParanoidiQ86VD9.
KOiK08098.
OMAiSTFWLLR.
OrthoDBiEOG091G04TT.
PhylomeDBiQ86VD9.
TreeFamiTF324461.

Enzyme and pathway databases

UniPathwayiUPA00196.

Miscellaneous databases

GenomeRNAii80235.
PROiQ86VD9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119227.
CleanExiHS_PIGZ.
ExpressionAtlasiQ86VD9. baseline and differential.
GenevisibleiQ86VD9. HS.

Family and domain databases

InterProiIPR005599. GPI_mannosylTrfase.
[Graphical view]
PANTHERiPTHR22760. PTHR22760. 2 hits.
PfamiPF03901. Glyco_transf_22. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPIGZ_HUMAN
AccessioniPrimary (citable) accession number: Q86VD9
Secondary accession number(s): Q9H9G6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: November 2, 2010
Last modified: November 2, 2016
This is version 102 of the entry and version 4 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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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.