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Q969N2

- PIGT_HUMAN

UniProt

Q969N2 - PIGT_HUMAN

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Protein

GPI transamidase component PIG-T

Gene

PIGT

Organism
Homo sapiens (Human)
Status
Reviewed - 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

GO - Molecular functioni

  1. GPI-anchor transamidase activity Source: Ensembl

GO - Biological processi

  1. attachment of GPI anchor to protein Source: UniProtKB
  2. cellular protein metabolic process Source: Reactome
  3. C-terminal protein lipidation Source: Reactome
  4. neuron apoptotic process Source: Ensembl
  5. neuron differentiation Source: Ensembl
  6. post-translational protein modification Source: Reactome
Complete GO annotation...

Keywords - Biological processi

GPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiREACT_1830. 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
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:14938. PIGT.

Subcellular locationi

Endoplasmic reticulum membrane 1 Publication; Single-pass type I membrane protein 1 Publication

GO - Cellular componenti

  1. cytoplasmic membrane-bounded vesicle Source: Ensembl
  2. endoplasmic reticulum membrane Source: Reactome
  3. GPI-anchor transamidase complex Source: UniProtKB
  4. integral component of endoplasmic reticulum membrane Source: UniProtKB
  5. 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) [MIM:615398]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831T → 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 Publication
VAR_070448
Paroxysmal nocturnal hemoglobinuria 2 (PNH2) [MIM:615399]: A 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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi182 – 1821C → S: Decrease in activity. 1 Publication

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 21211 PublicationAdd
BLAST
Chaini22 – 578557GPI transamidase component PIG-TPRO_0000024107Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi164 – 1641N-linked (GlcNAc...)1 Publication
Disulfide bondi182 – 182Interchain (with C-92 in PIGK/GPI8)1 Publication
Glycosylationi291 – 2911N-linked (GlcNAc...)Sequence Analysis
Glycosylationi327 – 3271N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ969N2.
PaxDbiQ969N2.
PRIDEiQ969N2.

PTM databases

PhosphoSiteiQ969N2.

Expressioni

Gene expression databases

BgeeiQ969N2.
CleanExiHS_PIGT.
ExpressionAtlasiQ969N2. baseline.
GenevestigatoriQ969N2.

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. 8 interactions.
IntActiQ969N2. 2 interactions.
MINTiMINT-1417476.

Structurei

3D structure databases

ProteinModelPortaliQ969N2.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 527506LumenalSequence AnalysisAdd
BLAST
Topological domaini549 – 57830CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei528 – 54821HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the PIGT family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG331717.
GeneTreeiENSGT00390000018558.
HOVERGENiHBG049395.
InParanoidiQ969N2.
KOiK05292.
OMAiTLEVNPP.
OrthoDBiEOG70PBXH.
PhylomeDBiQ969N2.
TreeFamiTF105921.

Family and domain databases

InterProiIPR007245. PIG-T.
[Graphical view]
PANTHERiPTHR12959. PTHR12959. 1 hit.
PfamiPF04113. Gpi16. 2 hits.
[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. Align

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: 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 AAD27715.1 differs from that shown. Reason: Frameshift at positions 5 and 27.
The sequence AAQ88951.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence CAB57341.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831T → 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 Publication
VAR_070448
Natural varianti473 – 4731A → T.
Corresponds to variant rs36056071 [ dbSNP | Ensembl ].
VAR_053583

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 144144Missing in isoform 3. 1 PublicationVSP_009536Add
BLAST
Alternative sequencei63 – 256194Missing in isoform 2. CuratedVSP_009537Add
BLAST
Alternative sequencei63 – 164102Missing in isoform 4. 1 PublicationVSP_009538Add
BLAST
Alternative sequencei109 – 16456Missing in isoform 5. 1 PublicationVSP_043167Add
BLAST
Alternative sequencei145 – 16420IDSTN…LGLAN → MWIPRGQSPRPTPDRPLSPS in isoform 3. 1 PublicationVSP_009539Add
BLAST
Alternative sequencei345 – 41268EAPPV…ENKPS → G in isoform 3 and isoform 6. 2 PublicationsVSP_009540Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q969N2-1]
uc002xol.2. human. [Q969N2-3]
uc010ghe.2. human. [Q969N2-5]
uc010zwy.3. human. [Q969N2-4]

Polymorphism databases

DMDMi44888284.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
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 ]
UniGenei Hs.437388.

3D structure databases

ProteinModelPortali Q969N2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119633. 8 interactions.
IntActi Q969N2. 2 interactions.
MINTi MINT-1417476.

PTM databases

PhosphoSitei Q969N2.

Polymorphism databases

DMDMi 44888284.

Proteomic databases

MaxQBi Q969N2.
PaxDbi Q969N2.
PRIDEi Q969N2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000279035 ; ENSP00000279035 ; ENSG00000124155 . [Q969N2-4 ]
ENST00000279036 ; ENSP00000279036 ; ENSG00000124155 . [Q969N2-1 ]
ENST00000372689 ; ENSP00000361774 ; ENSG00000124155 . [Q969N2-6 ]
ENST00000543458 ; ENSP00000441577 ; ENSG00000124155 . [Q969N2-5 ]
GeneIDi 51604.
KEGGi hsa:51604.
UCSCi uc002xoh.3. human. [Q969N2-1 ]
uc002xol.2. human. [Q969N2-3 ]
uc010ghe.2. human. [Q969N2-5 ]
uc010zwy.3. human. [Q969N2-4 ]

Organism-specific databases

CTDi 51604.
GeneCardsi GC20P044044.
HGNCi HGNC:14938. PIGT.
MIMi 610272. gene.
615398. phenotype.
615399. phenotype.
neXtProti NX_Q969N2.
Orphaneti 369837. Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome.
PharmGKBi PA33302.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG331717.
GeneTreei ENSGT00390000018558.
HOVERGENi HBG049395.
InParanoidi Q969N2.
KOi K05292.
OMAi TLEVNPP.
OrthoDBi EOG70PBXH.
PhylomeDBi Q969N2.
TreeFami TF105921.

Enzyme and pathway databases

UniPathwayi UPA00196 .
Reactomei REACT_1830. Attachment of GPI anchor to uPAR.

Miscellaneous databases

ChiTaRSi PIGT. human.
GeneWikii PIGT.
GenomeRNAii 51604.
NextBioi 55490.
PROi Q969N2.
SOURCEi Search...

Gene expression databases

Bgeei Q969N2.
CleanExi HS_PIGT.
ExpressionAtlasi Q969N2. baseline.
Genevestigatori Q969N2.

Family and domain databases

InterProi IPR007245. PIG-T.
[Graphical view ]
PANTHERi PTHR12959. PTHR12959. 1 hit.
Pfami PF04113. Gpi16. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8."
    Ohishi K., Inoue N., Kinoshita T.
    EMBO J. 20:4088-4098(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 22-41, FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5).
    Tissue: Testis and Thalamus.
  3. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  4. "Homo sapiens protein coding cDNA."
    Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
    Tissue: Signet-ring cell carcinoma.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Amygdala.
  6. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain, Leukocyte, Skin and Testis.
  9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-578 (ISOFORM 1).
  10. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
    Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
    Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-578 (ISOFORM 1).
  11. "Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge."
    Ohishi K., Nagamune K., Maeda Y., Kinoshita T.
    J. Biol. Chem. 278:13959-13967(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISULFIDE BOND FORMATION WITH PIGK/GPI8, MUTAGENESIS OF CYS-182.
  12. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-164.
    Tissue: Liver.
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. Cited for: INVOLVEMENT IN PNH2.
  15. "A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT."
    Kvarnung M., Nilsson D., Lindstrand A., Korenke G.C., Chiang S.C., Blennow E., Bergmann M., Stodberg T., Makitie O., Anderlid B.M., Bryceson Y.T., Nordenskjold M., Nordgren A.
    J. Med. Genet. 50:521-528(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCAHS3 PRO-183.

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: October 29, 2014
This is version 118 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

External Data

Dasty 3