UniProtKB - Q9BRB3 (PIGQ_HUMAN)
Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q
PIGQ
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
- phosphatidylinositol N-acetylglucosaminyltransferase activity Source: InterPro
GO - Biological processi
- carbohydrate metabolic process Source: ProtInc
- GPI anchor biosynthetic process Source: UniProtKB
Keywordsi
Biological process | GPI-anchor biosynthesis |
Enzyme and pathway databases
BRENDAi | 2.4.1.198, 2681 |
PathwayCommonsi | Q9BRB3 |
Reactomei | R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) [Q9BRB3-2] |
SignaLinki | Q9BRB3 |
UniPathwayi | UPA00196 |
Names & Taxonomyi
Protein namesi | Recommended name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit QCuratedAlternative name(s): N-acetylglucosamyl transferase component GPI1 Phosphatidylinositol-glycan biosynthesis class Q protein Short name: PIG-Q |
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:14135, PIGQ |
MIMi | 605754, gene |
neXtProti | NX_Q9BRB3 |
VEuPathDBi | HostDB:ENSG00000007541 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Endoplasmic reticulum
- endoplasmic reticulum Source: GO_Central
- 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 | 278 – 298 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 349 – 371 | HelicalSequence analysisAdd BLAST | 23 | |
Transmembranei | 378 – 400 | HelicalSequence analysisAdd BLAST | 23 | |
Transmembranei | 446 – 468 | HelicalSequence analysisAdd BLAST | 23 | |
Transmembranei | 475 – 497 | HelicalSequence analysisAdd BLAST | 23 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Multiple congenital anomalies-hypotonia-seizures syndrome 4 (MCAHS4)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083110 | 207 – 760 | Missing in MCAHS4. 1 PublicationAdd BLAST | 554 | |
Natural variantiVAR_083111 | 400 | Missing in MCAHS4. 2 Publications | 1 |
Keywords - Diseasei
Disease variant, EpilepsyOrganism-specific databases
DisGeNETi | 9091 |
MalaCardsi | PIGQ |
MIMi | 618548, phenotype |
OpenTargetsi | ENSG00000007541 |
Orphaneti | 1934, Early infantile epileptic encephalopathy |
PharmGKBi | PA33299 |
Miscellaneous databases
Pharosi | Q9BRB3, Tbio |
Genetic variation databases
BioMutai | PIGQ |
DMDMi | 30173119 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000215664 | 2 – 760 | Phosphatidylinositol N-acetylglucosaminyltransferase subunit QAdd BLAST | 759 |
Proteomic databases
jPOSTi | Q9BRB3 |
MassIVEi | Q9BRB3 |
MaxQBi | Q9BRB3 |
PaxDbi | Q9BRB3 |
PeptideAtlasi | Q9BRB3 |
PRIDEi | Q9BRB3 |
ProteomicsDBi | 78753 [Q9BRB3-1] 78754 [Q9BRB3-2] 78755 [Q9BRB3-3] |
PTM databases
iPTMneti | Q9BRB3 |
PhosphoSitePlusi | Q9BRB3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000007541, Expressed in adult mammalian kidney and 157 other tissues |
ExpressionAtlasi | Q9BRB3, baseline and differential |
Genevisiblei | Q9BRB3, HS |
Organism-specific databases
HPAi | ENSG00000007541, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Q9BRB3
With | #Exp. | IntAct |
---|---|---|
DPM2 [O94777] | 2 | EBI-2339260,EBI-9097061 |
PIGA [P37287] | 5 | EBI-2339260,EBI-26643054 |
PIGC [Q92535] | 4 | EBI-2339260,EBI-721918 |
Protein-protein interaction databases
BioGRIDi | 114545, 32 interactors |
CORUMi | Q9BRB3 |
IntActi | Q9BRB3, 18 interactors |
MINTi | Q9BRB3 |
STRINGi | 9606.ENSP00000026218 |
Miscellaneous databases
RNActi | Q9BRB3, protein |
Structurei
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 696 – 748 | DisorderedSequence analysisAdd BLAST | 53 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1183, Eukaryota |
GeneTreei | ENSGT00390000004994 |
HOGENOMi | CLU_021157_2_0_1 |
InParanoidi | Q9BRB3 |
OMAi | RDNHITM |
OrthoDBi | 1247641at2759 |
PhylomeDBi | Q9BRB3 |
TreeFami | TF321258 |
Family and domain databases
InterProi | View protein in InterPro IPR007720, GlcNAc_Gpi1 |
PANTHERi | PTHR21329, PTHR21329, 1 hit |
Pfami | View protein in Pfam PF05024, Gpi1, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVLKAFFPTC CVSTDSGLLV GRWVPEQSSA VVLAVLHFPF IPIQVKQLLA
60 70 80 90 100
QVRQASQVGV AVLGTWCHCR QEPEESLGRF LESLGAVFPH EPWLRLCRER
110 120 130 140 150
GGTFWSCEAT HRQAPTAPGA PGEDQVMLIF YDQRQVLLSQ LHLPTVLPDR
160 170 180 190 200
QAGATTASTG GLAAVFDTVA RSEVLFRSDR FDEGPVRLSH WQSEGVEASI
210 220 230 240 250
LAELARRASG PICLLLASLL SLVSAVSACR VFKLWPLSFL GSKLSTCEQL
260 270 280 290 300
RHRLEHLTLI FSTRKAENPA QLMRKANTVA SVLLDVALGL MLLSWLHGRS
310 320 330 340 350
RIGHLADALV PVADHVAEEL QHLLQWLMGA PAGLKMNRAL DQVLGRFFLY
360 370 380 390 400
HIHLWISYIH LMSPFVEHIL WHVGLSACLG LTVALSLLSD IIALLTFHIY
410 420 430 440 450
CFYVYGARLY CLKIHGLSSL WRLFRGKKWN VLRQRVDSCS YDLDQLFIGT
460 470 480 490 500
LLFTILLFLL PTTALYYLVF TLLRLLVVAV QGLIHLLVDL INSLPLYSLG
510 520 530 540 550
LRLCRPYRLA DKPTALQPRG AHLPPPQLWL PPQALLGRPV PQAVPWGAHL
560 570 580 590 600
PLEAERGQAG LRELLARLAP PHGHSQPSAL PGWHQLSWRM SCALWTLLCA
610 620 630 640 650
PEHGRPCYHT LGLEVIGSEQ MWGWPARLAA LHHWHCLPWD PLPTCCGHHG
660 670 680 690 700
GEHSNPRCPE HCPMPTLCTQ VQRVRPPQQP QVEGWSPWGL PSGSALAVGV
710 720 730 740 750
EGPCQDEPPS PRHPLAPSAE QHPASGGLKQ SLTPVPSGPG PSLPEPHGVY
760
LRMFPGEVAL
Computationally mapped potential isoform sequencesi
There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1B0GVF8 | A0A1B0GVF8_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGQ | 253 | Annotation score: | ||
E7ERP4 | E7ERP4_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGQ | 574 | Annotation score: | ||
H7C336 | H7C336_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGQ | 238 | Annotation score: | ||
A0A0U1RQX6 | A0A0U1RQX6_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGQ | 103 | Annotation score: | ||
B8ZZ31 | B8ZZ31_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGQ | 396 | Annotation score: | ||
H0YFM9 | H0YFM9_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGQ | 139 | Annotation score: | ||
B8ZZ29 | B8ZZ29_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGQ | 111 | Annotation score: | ||
J3QTH6 | J3QTH6_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGQ | 148 | Annotation score: | ||
A0A1B0GVV7 | A0A1B0GVV7_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGQ | 150 | Annotation score: | ||
A0A1B0GUF6 | A0A1B0GUF6_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGQ | 142 | Annotation score: | ||
There are more potential isoformsShow all |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015596 | 14 | T → A2 PublicationsCorresponds to variant dbSNP:rs2071979Ensembl. | 1 | |
Natural variantiVAR_083110 | 207 – 760 | Missing in MCAHS4. 1 PublicationAdd BLAST | 554 | |
Natural variantiVAR_083111 | 400 | Missing in MCAHS4. 2 Publications | 1 | |
Natural variantiVAR_053579 | 592 | C → R. Corresponds to variant dbSNP:rs1045277Ensembl. | 1 | |
Natural variantiVAR_053580 | 668 | C → R. Corresponds to variant dbSNP:rs710924Ensembl. | 1 | |
Natural variantiVAR_053581 | 668 | C → Y. Corresponds to variant dbSNP:rs710925Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_007279 | 275 – 299 | KANTV…WLHGR → CGPALVSAGLGACPLAPSPS PSAPR in isoform 3. 1 PublicationAdd BLAST | 25 | |
Alternative sequenceiVSP_007280 | 300 – 760 | Missing in isoform 3. 1 PublicationAdd BLAST | 461 | |
Alternative sequenceiVSP_007281 | 511 – 581 | DKPTA…PSALP → AGVKFRVLRHEAGRPLRLLM QINPLPYSRVVHTYRLPSCG CHPKHSWGALCRKLFLGELI YPWRQRGDKQD in isoform 2. 2 PublicationsAdd BLAST | 71 | |
Alternative sequenceiVSP_007282 | 582 – 760 | Missing in isoform 2. 2 PublicationsAdd BLAST | 179 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF030177 mRNA Translation: AAC32661.1 AB003723 mRNA Translation: BAA24948.1 AE006464 Genomic DNA Translation: AAK61235.1 Z98883 Genomic DNA No translation available. CH471112 Genomic DNA Translation: EAW85796.1 CH471112 Genomic DNA Translation: EAW85797.1 CH471112 Genomic DNA Translation: EAW85799.1 BC006377 mRNA Translation: AAH06377.1 BC010094 mRNA No translation available. |
CCDSi | CCDS10411.1 [Q9BRB3-1] CCDS10412.1 [Q9BRB3-2] |
RefSeqi | NP_004195.2, NM_004204.3 [Q9BRB3-2] NP_683721.1, NM_148920.2 [Q9BRB3-1] |
Genome annotation databases
Ensembli | ENST00000026218; ENSP00000026218; ENSG00000007541 ENST00000321878; ENSP00000326674; ENSG00000007541 [Q9BRB3-2] ENST00000409527; ENSP00000386760; ENSG00000007541 [Q9BRB3-2] ENST00000470411; ENSP00000439650; ENSG00000007541 [Q9BRB3-3] |
GeneIDi | 9091 |
KEGGi | hsa:9091 |
MANE-Selecti | ENST00000321878.10; ENSP00000326674.6; NM_004204.5; NP_004195.2 [Q9BRB3-2] |
UCSCi | uc002chm.4, human [Q9BRB3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF030177 mRNA Translation: AAC32661.1 AB003723 mRNA Translation: BAA24948.1 AE006464 Genomic DNA Translation: AAK61235.1 Z98883 Genomic DNA No translation available. CH471112 Genomic DNA Translation: EAW85796.1 CH471112 Genomic DNA Translation: EAW85797.1 CH471112 Genomic DNA Translation: EAW85799.1 BC006377 mRNA Translation: AAH06377.1 BC010094 mRNA No translation available. |
CCDSi | CCDS10411.1 [Q9BRB3-1] CCDS10412.1 [Q9BRB3-2] |
RefSeqi | NP_004195.2, NM_004204.3 [Q9BRB3-2] NP_683721.1, NM_148920.2 [Q9BRB3-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 114545, 32 interactors |
CORUMi | Q9BRB3 |
IntActi | Q9BRB3, 18 interactors |
MINTi | Q9BRB3 |
STRINGi | 9606.ENSP00000026218 |
PTM databases
iPTMneti | Q9BRB3 |
PhosphoSitePlusi | Q9BRB3 |
Genetic variation databases
BioMutai | PIGQ |
DMDMi | 30173119 |
Proteomic databases
jPOSTi | Q9BRB3 |
MassIVEi | Q9BRB3 |
MaxQBi | Q9BRB3 |
PaxDbi | Q9BRB3 |
PeptideAtlasi | Q9BRB3 |
PRIDEi | Q9BRB3 |
ProteomicsDBi | 78753 [Q9BRB3-1] 78754 [Q9BRB3-2] 78755 [Q9BRB3-3] |
Protocols and materials databases
Antibodypediai | 22728, 86 antibodies from 21 providers |
DNASUi | 9091 |
Genome annotation databases
Ensembli | ENST00000026218; ENSP00000026218; ENSG00000007541 ENST00000321878; ENSP00000326674; ENSG00000007541 [Q9BRB3-2] ENST00000409527; ENSP00000386760; ENSG00000007541 [Q9BRB3-2] ENST00000470411; ENSP00000439650; ENSG00000007541 [Q9BRB3-3] |
GeneIDi | 9091 |
KEGGi | hsa:9091 |
MANE-Selecti | ENST00000321878.10; ENSP00000326674.6; NM_004204.5; NP_004195.2 [Q9BRB3-2] |
UCSCi | uc002chm.4, human [Q9BRB3-1] |
Organism-specific databases
CTDi | 9091 |
DisGeNETi | 9091 |
GeneCardsi | PIGQ |
HGNCi | HGNC:14135, PIGQ |
HPAi | ENSG00000007541, Low tissue specificity |
MalaCardsi | PIGQ |
MIMi | 605754, gene 618548, phenotype |
neXtProti | NX_Q9BRB3 |
OpenTargetsi | ENSG00000007541 |
Orphaneti | 1934, Early infantile epileptic encephalopathy |
PharmGKBi | PA33299 |
VEuPathDBi | HostDB:ENSG00000007541 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1183, Eukaryota |
GeneTreei | ENSGT00390000004994 |
HOGENOMi | CLU_021157_2_0_1 |
InParanoidi | Q9BRB3 |
OMAi | RDNHITM |
OrthoDBi | 1247641at2759 |
PhylomeDBi | Q9BRB3 |
TreeFami | TF321258 |
Enzyme and pathway databases
UniPathwayi | UPA00196 |
BRENDAi | 2.4.1.198, 2681 |
PathwayCommonsi | Q9BRB3 |
Reactomei | R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) [Q9BRB3-2] |
SignaLinki | Q9BRB3 |
Miscellaneous databases
BioGRID-ORCSi | 9091, 20 hits in 1044 CRISPR screens |
ChiTaRSi | PIGQ, human |
GeneWikii | PIGQ |
GenomeRNAii | 9091 |
Pharosi | Q9BRB3, Tbio |
PROi | PR:Q9BRB3 |
RNActi | Q9BRB3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000007541, Expressed in adult mammalian kidney and 157 other tissues |
ExpressionAtlasi | Q9BRB3, baseline and differential |
Genevisiblei | Q9BRB3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007720, GlcNAc_Gpi1 |
PANTHERi | PTHR21329, PTHR21329, 1 hit |
Pfami | View protein in Pfam PF05024, Gpi1, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PIGQ_HUMAN | |
Accessioni | Q9BRB3Primary (citable) accession number: Q9BRB3 Secondary accession number(s): A2IDE1 Q9UJH4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 23, 2003 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 23, 2022 | |
This is version 164 of the entry and version 3 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
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: 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