Q969N2 (PIGT_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 103.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: GPI transamidase component PIG-T Alternative name(s): Phosphatidylinositol-glycan biosynthesis class T protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 578 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates. Ref.1 |
| Pathway | Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. |
| Subunit structure | 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. Ref.1 |
| Subcellular location | Endoplasmic reticulum membrane; Single-pass type I membrane protein Ref.1. |
| Post-translational modification | The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity. |
| Sequence similarities | Belongs to the PIGT family. |
| Sequence caution | 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. The sequence CAB57341.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | GPI-anchor biosynthesis |
| Cellular component | Endoplasmic reticulum Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal Transmembrane Transmembrane helix |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Direct protein sequencing Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | C-terminal protein lipidation Traceable author statement. Source: Reactome attachment of GPI anchor to proteinTraceable author statement Ref.1. Source: UniProtKB neuron apoptotic processInferred from electronic annotation. Source: Compara neuron differentiationInferred from electronic annotation. Source: Compara |
| Cellular_component | GPI-anchor transamidase complex Traceable author statement PubMed 15713669. Source: UniProtKB cytoplasmic membrane-bounded vesicleInferred from electronic annotation. Source: Compara |
| Molecular_function | GPI-anchor transamidase activity Inferred from electronic annotation. Source: Compara |
| Complete GO annotation... | |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q969N2-1) 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. | ||||||
| Isoform 2 (identifier: Q969N2-2) The sequence of this isoform differs from the canonical sequence as follows: 63-256: Missing. | ||||||
| Isoform 3 (identifier: Q969N2-3) 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. | ||||||
| Isoform 4 (identifier: Q969N2-4) The sequence of this isoform differs from the canonical sequence as follows: 63-164: Missing. | ||||||
| Isoform 5 (identifier: Q969N2-5) The sequence of this isoform differs from the canonical sequence as follows: 109-164: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q969N2-6) The sequence of this isoform differs from the canonical sequence as follows: 345-412: EAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPS → G | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 21 | 21 | Ref.1 | ||||||
| Chain | 22 – 578 | 557 | GPI transamidase component PIG-T | PRO_0000024107 | |||||
Regions | |||||||||
| Topological domain | 22 – 527 | 506 | Lumenal Potential | ||||||
| Transmembrane | 528 – 548 | 21 | Helical; Potential | ||||||
| Topological domain | 549 – 578 | 30 | Cytoplasmic Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 164 | 1 | N-linked (GlcNAc...) Ref.12 | ||||||
| Glycosylation | 291 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 327 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Disulfide bond | 182 | Interchain (with C-92 in PIGK/GPI8) Ref.11 | |||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 144 | 144 | Missing in isoform 3. | VSP_009536 | |||||
| Alternative sequence | 63 – 256 | 194 | Missing in isoform 2. | VSP_009537 | |||||
| Alternative sequence | 63 – 164 | 102 | Missing in isoform 4. | VSP_009538 | |||||
| Alternative sequence | 109 – 164 | 56 | Missing in isoform 5. | VSP_043167 | |||||
| Alternative sequence | 145 – 164 | 20 | IDSTN…LGLAN → MWIPRGQSPRPTPDRPLSPS in isoform 3. | VSP_009539 | |||||
| Alternative sequence | 345 – 412 | 68 | EAPPV…ENKPS → G in isoform 3 and isoform 6. | VSP_009540 | |||||
| Natural variant | 473 | 1 | A → T. Corresponds to variant rs36056071 [ dbSNP | Ensembl ]. | VAR_053583 | |||||
Experimental info | |||||||||
| Mutagenesis | 182 | 1 | C → S: Decrease in activity. Ref.11 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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. 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. 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] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] 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. Rogers J.Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] 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, MASS SPECTROMETRY. Tissue: Liver. |
| [13] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00100030. IPI00385011. IPI00401041. IPI00401043. IPI00922696. |
| RefSeq | NP_001171657.1. NM_001184728.2. NP_001171658.1. NM_001184729.2. NP_001171659.1. NM_001184730.2. NP_057021.2. NM_015937.5. |
| UniGene | Hs.437388. |
3D structure databases | |
| ProteinModelPortal | Q969N2. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q969N2. 2 interactions. |
| MINT | MINT-1417476. |
PTM databases | |
| PhosphoSite | Q969N2. |
Polymorphism databases | |
| DMDM | 44888284. |
Proteomic databases | |
| PaxDb | Q969N2. |
| PRIDE | Q969N2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000279035; ENSP00000279035; ENSG00000124155. ENST00000279036; ENSP00000279036; ENSG00000124155. ENST00000341555; ENSP00000343783; ENSG00000124155. ENST00000372689; ENSP00000361774; ENSG00000124155. ENST00000455050; ENSP00000407574; ENSG00000124155. ENST00000543458; ENSP00000441577; ENSG00000124155. |
| GeneID | 51604. |
| KEGG | hsa:51604. |
| UCSC | uc002xoh.2. human. uc002xol.1. human. uc010zwy.2. human. |
Organism-specific databases | |
| CTD | 51604. |
| GeneCards | GC20P044044. |
| HGNC | HGNC:14938. PIGT. |
| MIM | 610272. gene. |
| neXtProt | NX_Q969N2. |
| PharmGKB | PA33302. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG331717. |
| HOVERGEN | HBG049395. |
| InParanoid | Q969N2. |
| KO | K05292. |
| OMA | LQLKWKR. |
| OrthoDB | EOG4R7V9J. |
| PhylomeDB | Q969N2. |
Enzyme and pathway databases | |
| Reactome | REACT_17015. Metabolism of proteins. |
| UniPathway | UPA00196. |
Gene expression databases | |
| ArrayExpress | Q969N2. |
| Bgee | Q969N2. |
| CleanEx | HS_PIGT. |
| Genevestigator | Q969N2. |
| GermOnline | ENSG00000124155. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR007245. PIG-T. [Graphical view] |
| PANTHER | PTHR12959. PTHR12959. 1 hit. |
| Pfam | PF04113. Gpi16. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | PIGT. human. |
| GenomeRNAi | 51604. |
| NextBio | 55490. |
| SOURCE | Search... |
Entry information
| Entry name | PIGT_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q969N2 Secondary accession number(s): B2RND5 Q9Y2Z5 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 20 Human chromosome 20: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| 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 |

Clusters with
