UniProtKB - Q14442 (PIGH_HUMAN)
Protein
Phosphatidylinositol N-acetylglucosaminyltransferase subunit H
Gene
PIGH
Organism
Homo sapiens (Human)
Status
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.2 Publications
: glycosylphosphatidylinositol-anchor biosynthesis Pathwayi
This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.2 PublicationsView 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
- phosphatidylinositol N-acetylglucosaminyltransferase activity Source: UniProtKB-EC
GO - Biological processi
- cellular protein modification process Source: ProtInc
- GPI anchor biosynthetic process Source: UniProtKB
- preassembly of GPI anchor in ER membrane Source: Reactome
Enzyme and pathway databases
PathwayCommonsi | Q14442 |
Reactomei | R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) |
UniPathwayi | UPA00196 |
Names & Taxonomyi
Protein namesi | Recommended name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit HCuratedAlternative name(s): Phosphatidylinositol-glycan biosynthesis class H protein Short name: PIG-H |
Gene namesi | Name:PIGHImported |
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:8964, PIGH |
MIMi | 600154, gene |
neXtProti | NX_Q14442 |
VEuPathDBi | HostDB:ENSG00000100564.8 |
Subcellular locationi
Other locations
Endoplasmic reticulum
- endoplasmic reticulum Source: ProtInc
- endoplasmic reticulum membrane Source: Reactome
- glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080993 | 103 | S → P in GPIBD17; decreased expression of GPI-anchored proteins, including FCGR3B/CD16B and CD55, in patient's granulocytes. 1 PublicationCorresponds to variant dbSNP:rs776038451EnsemblClinVar. | 1 |
Keywords - Diseasei
Autism spectrum disorder, Disease variant, EpilepsyOrganism-specific databases
DisGeNETi | 5283 |
MalaCardsi | PIGH |
MIMi | 618010, phenotype |
OpenTargetsi | ENSG00000100564 |
PharmGKBi | PA33295 |
Miscellaneous databases
Pharosi | Q14442, Tbio |
Genetic variation databases
BioMutai | PIGH |
DMDMi | 27151659 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000058435 | 1 – 188 | Phosphatidylinositol N-acetylglucosaminyltransferase subunit HAdd BLAST | 188 |
Proteomic databases
EPDi | Q14442 |
jPOSTi | Q14442 |
MassIVEi | Q14442 |
MaxQBi | Q14442 |
PaxDbi | Q14442 |
PeptideAtlasi | Q14442 |
PRIDEi | Q14442 |
ProteomicsDBi | 59991 |
PTM databases
iPTMneti | Q14442 |
PhosphoSitePlusi | Q14442 |
Expressioni
Gene expression databases
Bgeei | ENSG00000100564, Expressed in left lobe of thyroid gland and 225 other tissues |
ExpressionAtlasi | Q14442, baseline and differential |
Genevisiblei | Q14442, HS |
Organism-specific databases
HPAi | ENSG00000100564, Low tissue specificity |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 111301, 9 interactors |
CORUMi | Q14442 |
IntActi | Q14442, 4 interactors |
STRINGi | 9606.ENSP00000216452 |
Miscellaneous databases
RNActi | Q14442, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the PIGH family.Curated
Phylogenomic databases
eggNOGi | KOG4551, Eukaryota |
GeneTreei | ENSGT00390000011890 |
InParanoidi | Q14442 |
OMAi | HQKATSA |
OrthoDBi | 1431299at2759 |
PhylomeDBi | Q14442 |
TreeFami | TF324479 |
Family and domain databases
InterProi | View protein in InterPro IPR019328, GPI-GlcNAc_Trfase_PIG-H_dom |
Pfami | View protein in Pfam PF10181, PIG-H, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All
Q14442-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MEDERSFSDI CGGRLALQRR YYSPSCREFC LSCPRLSLRS LTAVTCTVWL
60 70 80 90 100
AAYGLFTLCE NSMILSAAIF ITLLGLLGYL HFVKIDQETL LIIDSLGIQM
110 120 130 140 150
TSSYASGKES TTFIEMGKVK DIVINEAIYM QKVIYYLCIL LKDPVEPHGI
160 170 180
SQVVPVFQSA KPRLDCLIEV YRSCQEILAH QKATSTSP
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YLY9 | H0YLY9_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGH | 187 | Annotation score: | ||
H0YLD0 | H0YLD0_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGH | 137 | Annotation score: | ||
H0YMV4 | H0YMV4_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGH | 182 | Annotation score: | ||
B4DEE2 | B4DEE2_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGH | 133 | Annotation score: | ||
H0YMT4 | H0YMT4_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGH | 183 | Annotation score: | ||
H0YKI1 | H0YKI1_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGH | 136 | Annotation score: | ||
H0YKZ3 | H0YKZ3_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGH | 137 | Annotation score: | ||
H0YNL7 | H0YNL7_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGH | 83 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080993 | 103 | S → P in GPIBD17; decreased expression of GPI-anchored proteins, including FCGR3B/CD16B and CD55, in patient's granulocytes. 1 PublicationCorresponds to variant dbSNP:rs776038451EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L19783 mRNA Translation: AAA03545.1 BT006804 mRNA Translation: AAP35450.1 AK314108 mRNA Translation: BAG36801.1 CH471061 Genomic DNA Translation: EAW80942.1 BC004100 mRNA Translation: AAH04100.1 BC071849 mRNA Translation: AAH71849.1 |
CCDSi | CCDS9784.1 |
PIRi | A48024 |
RefSeqi | NP_004560.1, NM_004569.3 |
Genome annotation databases
Ensembli | ENST00000216452; ENSP00000216452; ENSG00000100564 |
GeneIDi | 5283 |
KEGGi | hsa:5283 |
UCSCi | uc001xjr.2, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Functional Glycomics Gateway - GTase Phosphatidylinositol N-acetylglucosaminyltransferase subunit H |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L19783 mRNA Translation: AAA03545.1 BT006804 mRNA Translation: AAP35450.1 AK314108 mRNA Translation: BAG36801.1 CH471061 Genomic DNA Translation: EAW80942.1 BC004100 mRNA Translation: AAH04100.1 BC071849 mRNA Translation: AAH71849.1 |
CCDSi | CCDS9784.1 |
PIRi | A48024 |
RefSeqi | NP_004560.1, NM_004569.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 111301, 9 interactors |
CORUMi | Q14442 |
IntActi | Q14442, 4 interactors |
STRINGi | 9606.ENSP00000216452 |
PTM databases
iPTMneti | Q14442 |
PhosphoSitePlusi | Q14442 |
Genetic variation databases
BioMutai | PIGH |
DMDMi | 27151659 |
Proteomic databases
EPDi | Q14442 |
jPOSTi | Q14442 |
MassIVEi | Q14442 |
MaxQBi | Q14442 |
PaxDbi | Q14442 |
PeptideAtlasi | Q14442 |
PRIDEi | Q14442 |
ProteomicsDBi | 59991 |
Protocols and materials databases
Antibodypediai | 24854, 141 antibodies |
DNASUi | 5283 |
Genome annotation databases
Ensembli | ENST00000216452; ENSP00000216452; ENSG00000100564 |
GeneIDi | 5283 |
KEGGi | hsa:5283 |
UCSCi | uc001xjr.2, human |
Organism-specific databases
CTDi | 5283 |
DisGeNETi | 5283 |
GeneCardsi | PIGH |
HGNCi | HGNC:8964, PIGH |
HPAi | ENSG00000100564, Low tissue specificity |
MalaCardsi | PIGH |
MIMi | 600154, gene 618010, phenotype |
neXtProti | NX_Q14442 |
OpenTargetsi | ENSG00000100564 |
PharmGKBi | PA33295 |
VEuPathDBi | HostDB:ENSG00000100564.8 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4551, Eukaryota |
GeneTreei | ENSGT00390000011890 |
InParanoidi | Q14442 |
OMAi | HQKATSA |
OrthoDBi | 1431299at2759 |
PhylomeDBi | Q14442 |
TreeFami | TF324479 |
Enzyme and pathway databases
UniPathwayi | UPA00196 |
PathwayCommonsi | Q14442 |
Reactomei | R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) |
Miscellaneous databases
BioGRID-ORCSi | 5283, 78 hits in 876 CRISPR screens |
ChiTaRSi | PIGH, human |
GeneWikii | PIGH |
GenomeRNAii | 5283 |
Pharosi | Q14442, Tbio |
PROi | PR:Q14442 |
RNActi | Q14442, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100564, Expressed in left lobe of thyroid gland and 225 other tissues |
ExpressionAtlasi | Q14442, baseline and differential |
Genevisiblei | Q14442, HS |
Family and domain databases
InterProi | View protein in InterPro IPR019328, GPI-GlcNAc_Trfase_PIG-H_dom |
Pfami | View protein in Pfam PF10181, PIG-H, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PIGH_HUMAN | |
Accessioni | Q14442Primary (citable) accession number: Q14442 Secondary accession number(s): B2RAA4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 13, 2002 |
Last sequence update: | November 1, 1996 | |
Last modified: | February 10, 2021 | |
This is version 149 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 14
Human chromosome 14: entries, gene names and cross-references to MIM - 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 - Human entries with genetic variants
List of human entries with genetic variants