UniProtKB - Q969N2 (PIGT_HUMAN)
GPI transamidase component PIG-T
PIGT
Functioni
: glycosylphosphatidylinositol-anchor biosynthesis Pathwayi
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 - Biological processi
- attachment of GPI anchor to protein Source: GO_Central
Keywordsi
Biological process | GPI-anchor biosynthesis |
Enzyme and pathway databases
PathwayCommonsi | Q969N2 |
Reactomei | R-HSA-162791, Attachment of GPI anchor to uPAR |
UniPathwayi | UPA00196 |
Names & Taxonomyi
Protein namesi | Recommended name: GPI transamidase component PIG-TAlternative name(s): Phosphatidylinositol-glycan biosynthesis class T protein |
Gene namesi | Name:PIGT ORF Names:CGI-06, PSEC0163, UNQ716/PRO1379 |
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:14938, PIGT |
MIMi | 610272, gene |
neXtProti | NX_Q969N2 |
VEuPathDBi | HostDB:ENSG00000124155.16 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
- GPI-anchor transamidase complex Source: UniProtKB
- integral component of endoplasmic reticulum membrane Source: UniProtKB
Other locations
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 22 – 527 | LumenalSequence analysisAdd BLAST | 506 | |
Transmembranei | 528 – 548 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 549 – 578 | CytoplasmicSequence analysisAdd BLAST | 30 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070448 | 183 | T → P in MCAHS3; flow cytometric analysis of patient granulocytes and monocytes show decreased amounts of GPI-anchored proteins CD16B and CD59 compared to controls. 1 PublicationCorresponds to variant dbSNP:rs587777027EnsemblClinVar. | 1 |
Paroxysmal nocturnal hemoglobinuria 2 (PNH2)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 182 | C → S: Decrease in activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, EpilepsyOrganism-specific databases
DisGeNETi | 51604 |
MalaCardsi | PIGT |
MIMi | 615398, phenotype 615399, phenotype |
OpenTargetsi | ENSG00000124155 |
Orphaneti | 369837, Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome |
PharmGKBi | PA33302 |
Miscellaneous databases
Pharosi | Q969N2, Tbio |
Genetic variation databases
BioMutai | PIGT |
DMDMi | 44888284 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | 1 PublicationAdd BLAST | 21 | |
ChainiPRO_0000024107 | 22 – 578 | GPI transamidase component PIG-TAdd BLAST | 557 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 164 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 182 | Interchain (with C-92 in PIGK/GPI8)1 Publication | ||
Glycosylationi | 291 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 327 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
CPTACi | CPTAC-1499 |
EPDi | Q969N2 |
jPOSTi | Q969N2 |
MassIVEi | Q969N2 |
MaxQBi | Q969N2 |
PaxDbi | Q969N2 |
PeptideAtlasi | Q969N2 |
PRIDEi | Q969N2 |
ProteomicsDBi | 34213 75800 [Q969N2-1] 75801 [Q969N2-2] 75802 [Q969N2-3] 75803 [Q969N2-4] 75804 [Q969N2-5] |
PTM databases
GlyConnecti | 1286, 2 N-Linked glycans (1 site) |
GlyGeni | Q969N2, 4 sites |
iPTMneti | Q969N2 |
PhosphoSitePlusi | Q969N2 |
SwissPalmi | Q969N2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000124155, Expressed in heart and 116 other tissues |
ExpressionAtlasi | Q969N2, baseline and differential |
Genevisiblei | Q969N2, HS |
Organism-specific databases
HPAi | ENSG00000124155, Low tissue specificity |
Interactioni
Subunit structurei
Forms a complex with PIGK/GPI8, PIGS, PIGU and GPAA1/GAA1. Has a critical role in maintaining the complex by stabilizing the expression of GPAA1 and GPI8 and linking them to PIGS.
1 PublicationProtein-protein interaction databases
BioGRIDi | 119633, 60 interactors |
CORUMi | Q969N2 |
IntActi | Q969N2, 47 interactors |
MINTi | Q969N2 |
STRINGi | 9606.ENSP00000279036 |
Miscellaneous databases
RNActi | Q969N2, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2407, Eukaryota |
GeneTreei | ENSGT00390000018558 |
HOGENOMi | CLU_021459_0_1_1 |
InParanoidi | Q969N2 |
OMAi | DANHGHY |
OrthoDBi | 887370at2759 |
PhylomeDBi | Q969N2 |
TreeFami | TF105921 |
Family and domain databases
InterProi | View protein in InterPro IPR007245, PIG-T |
PANTHERi | PTHR12959, PTHR12959, 1 hit |
Pfami | View protein in Pfam PF04113, Gpi16, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 41 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
MAAAMPLALL VLLLLGPGGW CLAEPPRDSL REELVITPLP SGDVAATFQF
60 70 80 90 100
RTRWDSELQR EGVSHYRLFP KALGQLISKY SLRELHLSFT QGFWRTRYWG
110 120 130 140 150
PPFLQAPSGA ELWVWFQDTV TDVDKSWKEL SNVLSGIFCA SLNFIDSTNT
160 170 180 190 200
VTPTASFKPL GLANDTDHYF LRYAVLPREV VCTENLTPWK KLLPCSSKAG
210 220 230 240 250
LSVLLKADRL FHTSYHSQAV HIRPVCRNAR CTSISWELRQ TLSVVFDAFI
260 270 280 290 300
TGQGKKDWSL FRMFSRTLTE PCPLASESRV YVDITTYNQD NETLEVHPPP
310 320 330 340 350
TTTYQDVILG TRKTYAIYDL LDTAMINNSR NLNIQLKWKR PPENEAPPVP
360 370 380 390 400
FLHAQRYVSG YGLQKGELST LLYNTHPYRA FPVLLLDTVP WYLRLYVHTL
410 420 430 440 450
TITSKGKENK PSYIHYQPAQ DRLQPHLLEM LIQLPANSVT KVSIQFERAL
460 470 480 490 500
LKWTEYTPDP NHGFYVSPSV LSALVPSMVA AKPVDWEESP LFNSLFPVSD
510 520 530 540 550
GSNYFVRLYT EPLLVNLPTP DFSMPYNVIC LTCTVVAVCY GSFYNLLTRT
560 570
FHIEEPRTGG LAKRLANLIR RARGVPPL
The sequence of this isoform differs from the canonical sequence as follows:
1-144: Missing.
145-164: IDSTNTVTPTASFKPLGLAN → MWIPRGQSPRPTPDRPLSPS
345-412: EAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPS → G
Computationally mapped potential isoform sequencesi
There are 41 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1W2PNP0 | A0A1W2PNP0_HUMAN | GPI transamidase component PIG-T | PIGT | 580 | Annotation score: | ||
A0A1W2PQ52 | A0A1W2PQ52_HUMAN | GPI transamidase component PIG-T | PIGT | 318 | Annotation score: | ||
A0A1W2PNS2 | A0A1W2PNS2_HUMAN | GPI transamidase component PIG-T | PIGT | 183 | Annotation score: | ||
A0A1W2PRV7 | A0A1W2PRV7_HUMAN | GPI transamidase component PIG-T | PIGT | 331 | Annotation score: | ||
A0A1W2PP53 | A0A1W2PP53_HUMAN | GPI transamidase component PIG-T | PIGT | 441 | Annotation score: | ||
A0A1W2PP98 | A0A1W2PP98_HUMAN | GPI transamidase component PIG-T | PIGT | 191 | Annotation score: | ||
A0A1W2PRZ8 | A0A1W2PRZ8_HUMAN | GPI transamidase component PIG-T | PIGT | 429 | Annotation score: | ||
A0A1W2PPR6 | A0A1W2PPR6_HUMAN | GPI transamidase component PIG-T | PIGT | 532 | Annotation score: | ||
A0A1W2PSC5 | A0A1W2PSC5_HUMAN | GPI transamidase component PIG-T | PIGT | 128 | Annotation score: | ||
A0A1W2PRL6 | A0A1W2PRL6_HUMAN | GPI transamidase component PIG-T | PIGT | 171 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070448 | 183 | T → P in MCAHS3; flow cytometric analysis of patient granulocytes and monocytes show decreased amounts of GPI-anchored proteins CD16B and CD59 compared to controls. 1 PublicationCorresponds to variant dbSNP:rs587777027EnsemblClinVar. | 1 | |
Natural variantiVAR_053583 | 473 | A → T. Corresponds to variant dbSNP:rs36056071EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_009536 | 1 – 144 | Missing in isoform 3. 1 PublicationAdd BLAST | 144 | |
Alternative sequenceiVSP_009537 | 63 – 256 | Missing in isoform 2. CuratedAdd BLAST | 194 | |
Alternative sequenceiVSP_009538 | 63 – 164 | Missing in isoform 4. 1 PublicationAdd BLAST | 102 | |
Alternative sequenceiVSP_043167 | 109 – 164 | Missing in isoform 5. 1 PublicationAdd BLAST | 56 | |
Alternative sequenceiVSP_009539 | 145 – 164 | IDSTN…LGLAN → MWIPRGQSPRPTPDRPLSPS in isoform 3. 1 PublicationAdd BLAST | 20 | |
Alternative sequenceiVSP_009540 | 345 – 412 | EAPPV…ENKPS → G in isoform 3 and isoform 6. 2 PublicationsAdd BLAST | 68 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB057724 mRNA Translation: BAB60854.1 AK296139 mRNA Translation: BAH12267.1 AK302093 mRNA Translation: BAH13624.1 AK075469 mRNA Translation: BAC11639.1 AK225517 mRNA No translation available. BX537612 mRNA Translation: CAD97799.1 AL121742 mRNA Translation: CAB57341.1 Different initiation. AL021578 Genomic DNA No translation available. CH471077 Genomic DNA Translation: EAW75844.1 CH471077 Genomic DNA Translation: EAW75845.1 CH471077 Genomic DNA Translation: EAW75846.1 BC015022 mRNA Translation: AAH15022.3 BC110892 mRNA Translation: AAI10893.1 BC136827 mRNA Translation: AAI36828.1 BC136828 mRNA Translation: AAI36829.1 AY358588 mRNA Translation: AAQ88951.1 Different initiation. AF132940 mRNA Translation: AAD27715.1 Frameshift. |
CCDSi | CCDS13353.1 [Q969N2-1] CCDS54464.1 [Q969N2-5] CCDS54465.1 [Q969N2-6] CCDS54466.1 [Q969N2-4] |
RefSeqi | NP_001171657.1, NM_001184728.2 [Q969N2-5] NP_001171658.1, NM_001184729.2 [Q969N2-6] NP_001171659.1, NM_001184730.2 [Q969N2-4] NP_057021.2, NM_015937.5 [Q969N2-1] |
Genome annotation databases
Ensembli | ENST00000279035; ENSP00000279035; ENSG00000124155 [Q969N2-4] ENST00000279036; ENSP00000279036; ENSG00000124155 [Q969N2-1] ENST00000372689; ENSP00000361774; ENSG00000124155 [Q969N2-6] ENST00000543458; ENSP00000441577; ENSG00000124155 [Q969N2-5] ENST00000545755; ENSP00000443963; ENSG00000124155 [Q969N2-2] |
GeneIDi | 51604 |
KEGGi | hsa:51604 |
UCSCi | uc002xoh.4, human [Q969N2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB057724 mRNA Translation: BAB60854.1 AK296139 mRNA Translation: BAH12267.1 AK302093 mRNA Translation: BAH13624.1 AK075469 mRNA Translation: BAC11639.1 AK225517 mRNA No translation available. BX537612 mRNA Translation: CAD97799.1 AL121742 mRNA Translation: CAB57341.1 Different initiation. AL021578 Genomic DNA No translation available. CH471077 Genomic DNA Translation: EAW75844.1 CH471077 Genomic DNA Translation: EAW75845.1 CH471077 Genomic DNA Translation: EAW75846.1 BC015022 mRNA Translation: AAH15022.3 BC110892 mRNA Translation: AAI10893.1 BC136827 mRNA Translation: AAI36828.1 BC136828 mRNA Translation: AAI36829.1 AY358588 mRNA Translation: AAQ88951.1 Different initiation. AF132940 mRNA Translation: AAD27715.1 Frameshift. |
CCDSi | CCDS13353.1 [Q969N2-1] CCDS54464.1 [Q969N2-5] CCDS54465.1 [Q969N2-6] CCDS54466.1 [Q969N2-4] |
RefSeqi | NP_001171657.1, NM_001184728.2 [Q969N2-5] NP_001171658.1, NM_001184729.2 [Q969N2-6] NP_001171659.1, NM_001184730.2 [Q969N2-4] NP_057021.2, NM_015937.5 [Q969N2-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 119633, 60 interactors |
CORUMi | Q969N2 |
IntActi | Q969N2, 47 interactors |
MINTi | Q969N2 |
STRINGi | 9606.ENSP00000279036 |
PTM databases
GlyConnecti | 1286, 2 N-Linked glycans (1 site) |
GlyGeni | Q969N2, 4 sites |
iPTMneti | Q969N2 |
PhosphoSitePlusi | Q969N2 |
SwissPalmi | Q969N2 |
Genetic variation databases
BioMutai | PIGT |
DMDMi | 44888284 |
Proteomic databases
CPTACi | CPTAC-1499 |
EPDi | Q969N2 |
jPOSTi | Q969N2 |
MassIVEi | Q969N2 |
MaxQBi | Q969N2 |
PaxDbi | Q969N2 |
PeptideAtlasi | Q969N2 |
PRIDEi | Q969N2 |
ProteomicsDBi | 34213 75800 [Q969N2-1] 75801 [Q969N2-2] 75802 [Q969N2-3] 75803 [Q969N2-4] 75804 [Q969N2-5] |
Protocols and materials databases
Antibodypediai | 27619, 144 antibodies |
Genome annotation databases
Ensembli | ENST00000279035; ENSP00000279035; ENSG00000124155 [Q969N2-4] ENST00000279036; ENSP00000279036; ENSG00000124155 [Q969N2-1] ENST00000372689; ENSP00000361774; ENSG00000124155 [Q969N2-6] ENST00000543458; ENSP00000441577; ENSG00000124155 [Q969N2-5] ENST00000545755; ENSP00000443963; ENSG00000124155 [Q969N2-2] |
GeneIDi | 51604 |
KEGGi | hsa:51604 |
UCSCi | uc002xoh.4, human [Q969N2-1] |
Organism-specific databases
CTDi | 51604 |
DisGeNETi | 51604 |
GeneCardsi | PIGT |
HGNCi | HGNC:14938, PIGT |
HPAi | ENSG00000124155, Low tissue specificity |
MalaCardsi | PIGT |
MIMi | 610272, gene 615398, phenotype 615399, phenotype |
neXtProti | NX_Q969N2 |
OpenTargetsi | ENSG00000124155 |
Orphaneti | 369837, Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome |
PharmGKBi | PA33302 |
VEuPathDBi | HostDB:ENSG00000124155.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2407, Eukaryota |
GeneTreei | ENSGT00390000018558 |
HOGENOMi | CLU_021459_0_1_1 |
InParanoidi | Q969N2 |
OMAi | DANHGHY |
OrthoDBi | 887370at2759 |
PhylomeDBi | Q969N2 |
TreeFami | TF105921 |
Enzyme and pathway databases
UniPathwayi | UPA00196 |
PathwayCommonsi | Q969N2 |
Reactomei | R-HSA-162791, Attachment of GPI anchor to uPAR |
Miscellaneous databases
BioGRID-ORCSi | 51604, 11 hits in 874 CRISPR screens |
ChiTaRSi | PIGT, human |
GeneWikii | PIGT |
GenomeRNAii | 51604 |
Pharosi | Q969N2, Tbio |
PROi | PR:Q969N2 |
RNActi | Q969N2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000124155, Expressed in heart and 116 other tissues |
ExpressionAtlasi | Q969N2, baseline and differential |
Genevisiblei | Q969N2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007245, PIG-T |
PANTHERi | PTHR12959, PTHR12959, 1 hit |
Pfami | View protein in Pfam PF04113, Gpi16, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PIGT_HUMAN | |
Accessioni | Q969N2Primary (citable) accession number: Q969N2 Secondary accession number(s): B2RND5 Q9Y2Z5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 1, 2004 |
Last sequence update: | December 1, 2001 | |
Last modified: | February 10, 2021 | |
This is version 165 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
Direct protein sequencing, Reference proteomeDocuments
- 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 chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants