UniProtKB - Q92535 (PIGC_HUMAN)
Phosphatidylinositol N-acetylglucosaminyltransferase subunit C
PIGC
Functioni
Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.
3 Publications: glycosylphosphatidylinositol-anchor biosynthesis Pathwayi
This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.1 PublicationView all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.
GO - Molecular functioni
- catalytic activity Source: ProtInc
GO - Biological processi
- GPI anchor biosynthetic process Source: UniProtKB
Keywordsi
Biological process | GPI-anchor biosynthesis |
Enzyme and pathway databases
PathwayCommonsi | Q92535 |
Reactomei | R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) |
SignaLinki | Q92535 |
UniPathwayi | UPA00196 |
Names & Taxonomyi
Protein namesi | Recommended name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit CCuratedAlternative name(s): Phosphatidylinositol-glycan biosynthesis class C protein Short name: PIG-C |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8960, PIGC |
MIMi | 601730, gene |
neXtProti | NX_Q92535 |
VEuPathDBi | HostDB:ENSG00000135845 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein Curated
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
- glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 51 – 71 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 80 – 100 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 117 – 137 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 153 – 173 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 174 – 194 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 196 – 216 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 227 – 244 | HelicalSequence analysisAdd BLAST | 18 | |
Transmembranei | 250 – 270 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080520 | 21 – 297 | Missing in GPIBD16; decreased function in GPI-anchor biosynthesis as indicated by reduced surface expression of various GPI-anchored proteins. 1 PublicationAdd BLAST | 277 | |
Natural variantiVAR_080521 | 189 | L → W in GPIBD16; decreased function in GPI-anchor biosynthesis as indicated by reduced surface expression of various GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs1553259614EnsemblClinVar. | 1 | |
Natural variantiVAR_080522 | 212 | L → P in GPIBD16; decreased function in GPI-anchor biosynthesis as indicated by reduced surface expression of various GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs1553259602EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 5279 |
MalaCardsi | PIGC |
MIMi | 617816, phenotype |
OpenTargetsi | ENSG00000135845 |
Orphaneti | 88616, Autosomal recessive non-syndromic intellectual disability |
PharmGKBi | PA33291 |
Miscellaneous databases
Pharosi | Q92535, Tbio |
Genetic variation databases
BioMutai | PIGC |
DMDMi | 14916629 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000058431 | 1 – 297 | Phosphatidylinositol N-acetylglucosaminyltransferase subunit CAdd BLAST | 297 |
Proteomic databases
MassIVEi | Q92535 |
MaxQBi | Q92535 |
PaxDbi | Q92535 |
PeptideAtlasi | Q92535 |
PRIDEi | Q92535 |
ProteomicsDBi | 75293 |
PTM databases
iPTMneti | Q92535 |
PhosphoSitePlusi | Q92535 |
Expressioni
Gene expression databases
Bgeei | ENSG00000135845, Expressed in corpus callosum and 238 other tissues |
Genevisiblei | Q92535, HS |
Organism-specific databases
HPAi | ENSG00000135845, Low tissue specificity |
Interactioni
Subunit structurei
Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2 (PubMed:16162815, PubMed:9463366).
Interacts with PIGQ (PubMed:9463366).
Interacts with the heterodimer PIGA:PIGH (PubMed:9463366).
2 PublicationsBinary interactionsi
Protein-protein interaction databases
BioGRIDi | 111297, 11 interactors |
CORUMi | Q92535 |
IntActi | Q92535, 6 interactors |
MINTi | Q92535 |
STRINGi | 9606.ENSP00000356702 |
Miscellaneous databases
RNActi | Q92535, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q92535 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3059, Eukaryota |
GeneTreei | ENSGT00390000005496 |
HOGENOMi | CLU_024002_0_0_1 |
InParanoidi | Q92535 |
OMAi | HAFVMVT |
OrthoDBi | 1241278at2759 |
PhylomeDBi | Q92535 |
TreeFami | TF314325 |
Family and domain databases
InterProi | View protein in InterPro IPR009450, Plno_GlcNAc_GPI2 |
PANTHERi | PTHR12982, PTHR12982, 1 hit |
Pfami | View protein in Pfam PF06432, GPI2, 1 hit |
PIRSFi | PIRSF016104, GPI2, 1 hit |
i Sequence
Sequence statusi: Complete.
10 20 30 40 50
MYAQPVTNTK EVKWQKVLYE RQPFPDNYVD RRFLEELRKN IHARKYQYWA
60 70 80 90 100
VVFESSVVIQ QLCSVCVFVV IWWYMDEGLL APHWLLGTGL ASSLIGYVLF
110 120 130 140 150
DLIDGGEGRK KSGQTRWADL KSALVFITFT YGFSPVLKTL TESVSTDTIY
160 170 180 190 200
AMSVFMLLGH LIFFDYGANA AIVSSTLSLN MAIFASVCLA SRLPRSLHAF
210 220 230 240 250
IMVTFAIQIF ALWPMLQKKL KACTPRSYVG VTLLFAFSAV GGLLSISAVG
260 270 280 290
AVLFALLLMS ISCLCPFYLI RLQLFKENIH GPWDEAEIKE DLSRFLS
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080520 | 21 – 297 | Missing in GPIBD16; decreased function in GPI-anchor biosynthesis as indicated by reduced surface expression of various GPI-anchored proteins. 1 PublicationAdd BLAST | 277 | |
Natural variantiVAR_080521 | 189 | L → W in GPIBD16; decreased function in GPI-anchor biosynthesis as indicated by reduced surface expression of various GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs1553259614EnsemblClinVar. | 1 | |
Natural variantiVAR_080522 | 212 | L → P in GPIBD16; decreased function in GPI-anchor biosynthesis as indicated by reduced surface expression of various GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs1553259602EnsemblClinVar. | 1 | |
Natural variantiVAR_011360 | 266 | P → S1 PublicationCorresponds to variant dbSNP:rs1063412Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D85418 mRNA Translation: BAA12812.1 AB000360 Genomic DNA Translation: BAA22866.1 BT006734 mRNA Translation: AAP35380.1 CR450292 mRNA Translation: CAG29288.1 Z97195 Genomic DNA No translation available. BC006539 mRNA Translation: AAH06539.1 |
CCDSi | CCDS1302.1 |
PIRi | JC4969 |
RefSeqi | NP_002633.1, NM_002642.3 NP_714969.1, NM_153747.1 |
Genome annotation databases
Ensembli | ENST00000344529.5; ENSP00000356701.3; ENSG00000135845.10 ENST00000367728.1; ENSP00000356702.1; ENSG00000135845.10 |
GeneIDi | 5279 |
KEGGi | hsa:5279 |
MANE-Selecti | ENST00000344529.5; ENSP00000356701.3; NM_153747.2; NP_714969.1 |
UCSCi | uc001gio.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Functional Glycomics Gateway - GTase Phosphatidylinositol N-acetylglucosaminyltransferase subunit C8 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D85418 mRNA Translation: BAA12812.1 AB000360 Genomic DNA Translation: BAA22866.1 BT006734 mRNA Translation: AAP35380.1 CR450292 mRNA Translation: CAG29288.1 Z97195 Genomic DNA No translation available. BC006539 mRNA Translation: AAH06539.1 |
CCDSi | CCDS1302.1 |
PIRi | JC4969 |
RefSeqi | NP_002633.1, NM_002642.3 NP_714969.1, NM_153747.1 |
3D structure databases
AlphaFoldDBi | Q92535 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 111297, 11 interactors |
CORUMi | Q92535 |
IntActi | Q92535, 6 interactors |
MINTi | Q92535 |
STRINGi | 9606.ENSP00000356702 |
PTM databases
iPTMneti | Q92535 |
PhosphoSitePlusi | Q92535 |
Genetic variation databases
BioMutai | PIGC |
DMDMi | 14916629 |
Proteomic databases
MassIVEi | Q92535 |
MaxQBi | Q92535 |
PaxDbi | Q92535 |
PeptideAtlasi | Q92535 |
PRIDEi | Q92535 |
ProteomicsDBi | 75293 |
Protocols and materials databases
Antibodypediai | 34384, 89 antibodies from 24 providers |
DNASUi | 5279 |
Genome annotation databases
Ensembli | ENST00000344529.5; ENSP00000356701.3; ENSG00000135845.10 ENST00000367728.1; ENSP00000356702.1; ENSG00000135845.10 |
GeneIDi | 5279 |
KEGGi | hsa:5279 |
MANE-Selecti | ENST00000344529.5; ENSP00000356701.3; NM_153747.2; NP_714969.1 |
UCSCi | uc001gio.4, human |
Organism-specific databases
CTDi | 5279 |
DisGeNETi | 5279 |
GeneCardsi | PIGC |
HGNCi | HGNC:8960, PIGC |
HPAi | ENSG00000135845, Low tissue specificity |
MalaCardsi | PIGC |
MIMi | 601730, gene 617816, phenotype |
neXtProti | NX_Q92535 |
OpenTargetsi | ENSG00000135845 |
Orphaneti | 88616, Autosomal recessive non-syndromic intellectual disability |
PharmGKBi | PA33291 |
VEuPathDBi | HostDB:ENSG00000135845 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3059, Eukaryota |
GeneTreei | ENSGT00390000005496 |
HOGENOMi | CLU_024002_0_0_1 |
InParanoidi | Q92535 |
OMAi | HAFVMVT |
OrthoDBi | 1241278at2759 |
PhylomeDBi | Q92535 |
TreeFami | TF314325 |
Enzyme and pathway databases
UniPathwayi | UPA00196 |
PathwayCommonsi | Q92535 |
Reactomei | R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) |
SignaLinki | Q92535 |
Miscellaneous databases
BioGRID-ORCSi | 5279, 86 hits in 1067 CRISPR screens |
GeneWikii | PIGC |
GenomeRNAii | 5279 |
Pharosi | Q92535, Tbio |
PROi | PR:Q92535 |
RNActi | Q92535, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000135845, Expressed in corpus callosum and 238 other tissues |
Genevisiblei | Q92535, HS |
Family and domain databases
InterProi | View protein in InterPro IPR009450, Plno_GlcNAc_GPI2 |
PANTHERi | PTHR12982, PTHR12982, 1 hit |
Pfami | View protein in Pfam PF06432, GPI2, 1 hit |
PIRSFi | PIRSF016104, GPI2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PIGC_HUMAN | |
Accessioni | Q92535Primary (citable) accession number: Q92535 Secondary accession number(s): O14491 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 11, 2001 |
Last sequence update: | February 1, 1997 | |
Last modified: | May 25, 2022 | |
This is version 170 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families