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Protein

GPI transamidase component PIG-T

Gene

PIGT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.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

GO - Biological processi

  • attachment of GPI anchor to protein Source: UniProtKB
  • neuron apoptotic process Source: Ensembl
  • neuron differentiation Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

GPI-anchor biosynthesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124155-MONOMER.
ReactomeiR-HSA-162791. Attachment of GPI anchor to uPAR.
UniPathwayiUPA00196.

Names & Taxonomyi

Protein namesi
Recommended name:
GPI transamidase component PIG-T
Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class T protein
Gene namesi
Name:PIGT
ORF Names:CGI-06, PSEC0163, UNQ716/PRO1379
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:14938. PIGT.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 527LumenalSequence analysisAdd BLAST506
Transmembranei528 – 548HelicalSequence analysisAdd BLAST21
Topological domaini549 – 578CytoplasmicSequence analysisAdd BLAST30

GO - Cellular componenti

  • cytoplasmic, membrane-bounded vesicle Source: Ensembl
  • endoplasmic reticulum membrane Source: Reactome
  • GPI-anchor transamidase complex Source: UniProtKB
  • integral component of endoplasmic reticulum membrane Source: UniProtKB
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes.
See also OMIM:615398
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070448183T → 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 rs587777027dbSNPEnsembl.1
Paroxysmal nocturnal hemoglobinuria 2 (PNH2)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.
See also OMIM:615399

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi182C → S: Decrease in activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi51604.
MalaCardsiPIGT.
MIMi615398. phenotype.
615399. phenotype.
OpenTargetsiENSG00000124155.
Orphaneti369837. Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome.
PharmGKBiPA33302.

Polymorphism and mutation databases

BioMutaiPIGT.
DMDMi44888284.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 211 PublicationAdd BLAST21
ChainiPRO_000002410722 – 578GPI transamidase component PIG-TAdd BLAST557

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi164N-linked (GlcNAc...)1 Publication1
Disulfide bondi182Interchain (with C-92 in PIGK/GPI8)1 Publication
Glycosylationi291N-linked (GlcNAc...)Sequence analysis1
Glycosylationi327N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ969N2.
MaxQBiQ969N2.
PaxDbiQ969N2.
PeptideAtlasiQ969N2.
PRIDEiQ969N2.

PTM databases

iPTMnetiQ969N2.
PhosphoSitePlusiQ969N2.

Expressioni

Gene expression databases

BgeeiENSG00000124155.
CleanExiHS_PIGT.
ExpressionAtlasiQ969N2. baseline and differential.
GenevisibleiQ969N2. HS.

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 Publication

Protein-protein interaction databases

BioGridi119633. 32 interactors.
IntActiQ969N2. 10 interactors.
MINTiMINT-1417476.
STRINGi9606.ENSP00000279036.

Structurei

3D structure databases

ProteinModelPortaliQ969N2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PIGT family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2407. Eukaryota.
ENOG410XRR0. LUCA.
GeneTreeiENSGT00390000018558.
HOVERGENiHBG049395.
InParanoidiQ969N2.
KOiK05292.
OMAiATSGAEM.
OrthoDBiEOG091G06DH.
PhylomeDBiQ969N2.
TreeFamiTF105921.

Family and domain databases

InterProiIPR007245. PIG-T.
[Graphical view]
PANTHERiPTHR12959. PTHR12959. 1 hit.
PfamiPF04113. Gpi16. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q969N2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:578
Mass (Da):65,700
Last modified:December 1, 2001 - v1
Checksum:iAC7865160CFBCBBA
GO
Isoform 2 (identifier: Q969N2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     63-256: Missing.

Show »
Length:384
Mass (Da):43,616
Checksum:iAC75FF3BD9DCB0C2
GO
Isoform 3 (identifier: Q969N2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-144: Missing.
     145-164: IDSTNTVTPTASFKPLGLAN → MWIPRGQSPRPTPDRPLSPS
     345-412: EAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPS → G

Note: May be due to intron retention. No experimental confirmation available.
Show »
Length:367
Mass (Da):41,905
Checksum:iD31A0D75D51AB651
GO
Isoform 4 (identifier: Q969N2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     63-164: Missing.

Show »
Length:476
Mass (Da):54,118
Checksum:i18A9624936EB7553
GO
Isoform 5 (identifier: Q969N2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     109-164: Missing.

Note: No experimental confirmation available.
Show »
Length:522
Mass (Da):59,582
Checksum:i5085BEC6CC7D5B88
GO
Isoform 6 (identifier: Q969N2-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     345-412: EAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPS → G

Note: No experimental confirmation available.
Show »
Length:511
Mass (Da):57,988
Checksum:iEC1AB6BA095A9D23
GO

Sequence cautioni

The sequence AAD27715 differs from that shown. Reason: Frameshift at positions 5 and 27.Curated
The sequence AAQ88951 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB57341 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070448183T → 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 rs587777027dbSNPEnsembl.1
Natural variantiVAR_053583473A → T.Corresponds to variant rs36056071dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0095361 – 144Missing in isoform 3. 1 PublicationAdd BLAST144
Alternative sequenceiVSP_00953763 – 256Missing in isoform 2. CuratedAdd BLAST194
Alternative sequenceiVSP_00953863 – 164Missing in isoform 4. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_043167109 – 164Missing in isoform 5. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_009539145 – 164IDSTN…LGLAN → MWIPRGQSPRPTPDRPLSPS in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_009540345 – 412EAPPV…ENKPS → G in isoform 3 and isoform 6. 2 PublicationsAdd BLAST68

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. Translation: CAC18110.2.
AL021578 Genomic DNA. Translation: CAC36338.2.
AL021578 Genomic DNA. Translation: CAC36339.2.
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.
CCDSiCCDS13353.1. [Q969N2-1]
CCDS54464.1. [Q969N2-5]
CCDS54465.1. [Q969N2-6]
CCDS54466.1. [Q969N2-4]
RefSeqiNP_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]
UniGeneiHs.437388.

Genome annotation databases

EnsembliENST00000279035; ENSP00000279035; ENSG00000124155. [Q969N2-4]
ENST00000279036; ENSP00000279036; ENSG00000124155. [Q969N2-1]
ENST00000372689; ENSP00000361774; ENSG00000124155. [Q969N2-6]
ENST00000543458; ENSP00000441577; ENSG00000124155. [Q969N2-5]
GeneIDi51604.
KEGGihsa:51604.
UCSCiuc002xoh.4. human. [Q969N2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. Translation: CAC18110.2.
AL021578 Genomic DNA. Translation: CAC36338.2.
AL021578 Genomic DNA. Translation: CAC36339.2.
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.
CCDSiCCDS13353.1. [Q969N2-1]
CCDS54464.1. [Q969N2-5]
CCDS54465.1. [Q969N2-6]
CCDS54466.1. [Q969N2-4]
RefSeqiNP_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]
UniGeneiHs.437388.

3D structure databases

ProteinModelPortaliQ969N2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119633. 32 interactors.
IntActiQ969N2. 10 interactors.
MINTiMINT-1417476.
STRINGi9606.ENSP00000279036.

PTM databases

iPTMnetiQ969N2.
PhosphoSitePlusiQ969N2.

Polymorphism and mutation databases

BioMutaiPIGT.
DMDMi44888284.

Proteomic databases

EPDiQ969N2.
MaxQBiQ969N2.
PaxDbiQ969N2.
PeptideAtlasiQ969N2.
PRIDEiQ969N2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000279035; ENSP00000279035; ENSG00000124155. [Q969N2-4]
ENST00000279036; ENSP00000279036; ENSG00000124155. [Q969N2-1]
ENST00000372689; ENSP00000361774; ENSG00000124155. [Q969N2-6]
ENST00000543458; ENSP00000441577; ENSG00000124155. [Q969N2-5]
GeneIDi51604.
KEGGihsa:51604.
UCSCiuc002xoh.4. human. [Q969N2-1]

Organism-specific databases

CTDi51604.
DisGeNETi51604.
GeneCardsiPIGT.
HGNCiHGNC:14938. PIGT.
MalaCardsiPIGT.
MIMi610272. gene.
615398. phenotype.
615399. phenotype.
neXtProtiNX_Q969N2.
OpenTargetsiENSG00000124155.
Orphaneti369837. Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome.
PharmGKBiPA33302.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2407. Eukaryota.
ENOG410XRR0. LUCA.
GeneTreeiENSGT00390000018558.
HOVERGENiHBG049395.
InParanoidiQ969N2.
KOiK05292.
OMAiATSGAEM.
OrthoDBiEOG091G06DH.
PhylomeDBiQ969N2.
TreeFamiTF105921.

Enzyme and pathway databases

UniPathwayiUPA00196.
BioCyciZFISH:ENSG00000124155-MONOMER.
ReactomeiR-HSA-162791. Attachment of GPI anchor to uPAR.

Miscellaneous databases

ChiTaRSiPIGT. human.
GeneWikiiPIGT.
GenomeRNAii51604.
PROiQ969N2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124155.
CleanExiHS_PIGT.
ExpressionAtlasiQ969N2. baseline and differential.
GenevisibleiQ969N2. HS.

Family and domain databases

InterProiIPR007245. PIG-T.
[Graphical view]
PANTHERiPTHR12959. PTHR12959. 1 hit.
PfamiPF04113. Gpi16. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPIGT_HUMAN
AccessioniPrimary (citable) accession number: Q969N2
Secondary accession number(s): B2RND5
, B7Z3N1, B7Z7I8, E1P622, G8JLF5, Q2NL69, Q7Z3N7, Q9BQY7, Q9BQY8, Q9UJG6, Q9Y2Z5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 135 of the entry and version 1 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

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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.