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Q969N2

- PIGT_HUMAN

UniProt

Q969N2 - PIGT_HUMAN

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
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    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
    2. protein binding Source: UniProtKB

    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

    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

    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

    ArrayExpressiQ969N2.
    BgeeiQ969N2.
    CleanExiHS_PIGT.
    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. 7 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.
    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

    MAAAMPLALL VLLLLGPGGW CLAEPPRDSL REELVITPLP SGDVAATFQF    50
    RTRWDSELQR EGVSHYRLFP KALGQLISKY SLRELHLSFT QGFWRTRYWG 100
    PPFLQAPSGA ELWVWFQDTV TDVDKSWKEL SNVLSGIFCA SLNFIDSTNT 150
    VTPTASFKPL GLANDTDHYF LRYAVLPREV VCTENLTPWK KLLPCSSKAG 200
    LSVLLKADRL FHTSYHSQAV HIRPVCRNAR CTSISWELRQ TLSVVFDAFI 250
    TGQGKKDWSL FRMFSRTLTE PCPLASESRV YVDITTYNQD NETLEVHPPP 300
    TTTYQDVILG TRKTYAIYDL LDTAMINNSR NLNIQLKWKR PPENEAPPVP 350
    FLHAQRYVSG YGLQKGELST LLYNTHPYRA FPVLLLDTVP WYLRLYVHTL 400
    TITSKGKENK PSYIHYQPAQ DRLQPHLLEM LIQLPANSVT KVSIQFERAL 450
    LKWTEYTPDP NHGFYVSPSV LSALVPSMVA AKPVDWEESP LFNSLFPVSD 500
    GSNYFVRLYT EPLLVNLPTP DFSMPYNVIC LTCTVVAVCY GSFYNLLTRT 550
    FHIEEPRTGG LAKRLANLIR RARGVPPL 578
    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. 7 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.
    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

    ArrayExpressi Q969N2.
    Bgeei Q969N2.
    CleanExi HS_PIGT.
    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

    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 1, 2014
    This is version 117 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