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UniProtKB - Q969N2 (PIGT_HUMAN)

Protein

GPI transamidase component PIG-T

Gene

PIGT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • attachment of GPI anchor to protein Source: GO_Central
  • neuron apoptotic process Source: Ensembl
  • neuron differentiation Source: Ensembl
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-162791 Attachment of GPI anchor to uPAR
UniPathwayi
UPA00196

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000124155.16
HGNCiHGNC:14938 PIGT
MIMi610272 gene
neXtProtiNX_Q969N2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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 dbSNP:rs587777027EnsemblClinVar.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...) asparagine1 Publication1
Disulfide bondi182Interchain (with C-92 in PIGK/GPI8)1 Publication
Glycosylationi291N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi327N-linked (GlcNAc...) asparagineSequence 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
ProteomicsDBi75800
75801 [Q969N2-2]
75802 [Q969N2-3]
75803 [Q969N2-4]
75804 [Q969N2-5]

PTM databases

GlyConnecti1286
iPTMnetiQ969N2
PhosphoSitePlusiQ969N2

Expressioni

Gene expression databases

BgeeiENSG00000124155 Expressed in 95 organ(s), highest expression level in heart
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, 41 interactors
CORUMiQ969N2
IntActiQ969N2, 11 interactors
MINTiQ969N2
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
OMAiDANHGHY
OrthoDBiEOG091G06DH
PhylomeDBiQ969N2
TreeFamiTF105921

Family and domain databases

InterProiView protein in InterPro
IPR007245 PIG-T
PANTHERiPTHR12959 PTHR12959, 1 hit
PfamiView protein in Pfam
PF04113 Gpi16, 1 hit

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

This entry has 6 described isoforms and 42 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 42 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6W983F6W983_HUMAN
GPI transamidase component PIG-T
PIGT hCG_38369
384Annotation score:
A0A1W2PNP0A0A1W2PNP0_HUMAN
GPI transamidase component PIG-T
PIGT
580Annotation score:
A0A1W2PP53A0A1W2PP53_HUMAN
GPI transamidase component PIG-T
PIGT
441Annotation score:
B7Z7C5B7Z7C5_HUMAN
cDNA FLJ51130, highly similar to GP...
PIGT
123Annotation score:
H7C2Y2H7C2Y2_HUMAN
GPI transamidase component PIG-T
PIGT
275Annotation score:
A0A1W2PPQ7A0A1W2PPQ7_HUMAN
GPI transamidase component PIG-T
PIGT
393Annotation score:
A0A1W2PP57A0A1W2PP57_HUMAN
GPI transamidase component PIG-T
PIGT
495Annotation score:
A0A1W2PPS0A0A1W2PPS0_HUMAN
GPI transamidase component PIG-T
PIGT
505Annotation score:
A0A1W2PQ52A0A1W2PQ52_HUMAN
GPI transamidase component PIG-T
PIGT
318Annotation score:
A0A1W2PR92A0A1W2PR92_HUMAN
GPI transamidase component PIG-T
PIGT
432Annotation score:
There are more potential isoformsShow all

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 dbSNP:rs587777027EnsemblClinVar.1
Natural variantiVAR_053583473A → T. Corresponds to variant dbSNP:rs36056071Ensembl.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 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.
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]
ENST00000545755; ENSP00000443963; ENSG00000124155 [Q969N2-2]
GeneIDi51604
KEGGihsa:51604
UCSCiuc002xoh.4 human [Q969N2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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.
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, 41 interactors
CORUMiQ969N2
IntActiQ969N2, 11 interactors
MINTiQ969N2
STRINGi9606.ENSP00000279036

PTM databases

GlyConnecti1286
iPTMnetiQ969N2
PhosphoSitePlusiQ969N2

Polymorphism and mutation databases

BioMutaiPIGT
DMDMi44888284

Proteomic databases

EPDiQ969N2
MaxQBiQ969N2
PaxDbiQ969N2
PeptideAtlasiQ969N2
PRIDEiQ969N2
ProteomicsDBi75800
75801 [Q969N2-2]
75802 [Q969N2-3]
75803 [Q969N2-4]
75804 [Q969N2-5]

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]
ENST00000545755; ENSP00000443963; ENSG00000124155 [Q969N2-2]
GeneIDi51604
KEGGihsa:51604
UCSCiuc002xoh.4 human [Q969N2-1]

Organism-specific databases

CTDi51604
DisGeNETi51604
EuPathDBiHostDB:ENSG00000124155.16
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
OMAiDANHGHY
OrthoDBiEOG091G06DH
PhylomeDBiQ969N2
TreeFamiTF105921

Enzyme and pathway databases

UniPathwayi
UPA00196

ReactomeiR-HSA-162791 Attachment of GPI anchor to uPAR

Miscellaneous databases

ChiTaRSiPIGT human
GeneWikiiPIGT
GenomeRNAii51604
PROiPR:Q969N2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124155 Expressed in 95 organ(s), highest expression level in heart
CleanExiHS_PIGT
ExpressionAtlasiQ969N2 baseline and differential
GenevisibleiQ969N2 HS

Family and domain databases

InterProiView protein in InterPro
IPR007245 PIG-T
PANTHERiPTHR12959 PTHR12959, 1 hit
PfamiView protein in Pfam
PF04113 Gpi16, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 150 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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