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Q969N2 (PIGT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
GPI transamidase component PIG-T
Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class T protein
Gene names
Name:PIGT
ORF Names:CGI-06, PSEC0163, UNQ716/PRO1379
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length578 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.14

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. Translation N-terminally extended.

The sequence CAB57341.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processGPI-anchor biosynthesis
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Epilepsy
   DomainSignal
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processC-terminal protein lipidation

Traceable author statement. Source: Reactome

attachment of GPI anchor to protein

Traceable author statement Ref.1. Source: UniProtKB

cellular protein metabolic process

Traceable author statement. Source: Reactome

neuron apoptotic process

Inferred from electronic annotation. Source: Ensembl

neuron differentiation

Inferred from electronic annotation. Source: Ensembl

post-translational protein modification

Traceable author statement. Source: Reactome

   Cellular_componentGPI-anchor transamidase complex

Traceable author statement PubMed 15713669. Source: UniProtKB

cytoplasmic membrane-bounded vesicle

Inferred from electronic annotation. Source: Ensembl

endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

integral component of endoplasmic reticulum membrane

Non-traceable author statement PubMed 12052837. Source: UniProtKB

   Molecular_functionGPI-anchor transamidase activity

Inferred from electronic annotation. Source: Ensembl

protein binding

Inferred from physical interaction Ref.1PubMed 15713669. Source: UniProtKB

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Ref.1
Chain22 – 578557GPI transamidase component PIG-T
PRO_0000024107

Regions

Topological domain22 – 527506Lumenal Potential
Transmembrane528 – 54821Helical; Potential
Topological domain549 – 57830Cytoplasmic Potential

Amino acid modifications

Glycosylation1641N-linked (GlcNAc...) Ref.12
Glycosylation2911N-linked (GlcNAc...) Potential
Glycosylation3271N-linked (GlcNAc...) Potential
Disulfide bond182Interchain (with C-92 in PIGK/GPI8) Ref.11

Natural variations

Alternative sequence1 – 144144Missing in isoform 3.
VSP_009536
Alternative sequence63 – 256194Missing in isoform 2.
VSP_009537
Alternative sequence63 – 164102Missing in isoform 4.
VSP_009538
Alternative sequence109 – 16456Missing in isoform 5.
VSP_043167
Alternative sequence145 – 16420IDSTN…LGLAN → MWIPRGQSPRPTPDRPLSPS in isoform 3.
VSP_009539
Alternative sequence345 – 41268EAPPV…ENKPS → G in isoform 3 and isoform 6.
VSP_009540
Natural variant1831T → P in MCAHS3; flow cytometric analysis of patient granulocytes and monocytes show decreased amounts of GPI-anchored proteins CD16B and CD59 compared to controls. Ref.15
VAR_070448
Natural variant4731A → T.
Corresponds to variant rs36056071 [ dbSNP | Ensembl ].
VAR_053583

Experimental info

Mutagenesis1821C → S: Decrease in activity. Ref.11

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: AC7865160CFBCBBA

FASTA57865,700
        10         20         30         40         50         60 
MAAAMPLALL VLLLLGPGGW CLAEPPRDSL REELVITPLP SGDVAATFQF RTRWDSELQR 

        70         80         90        100        110        120 
EGVSHYRLFP KALGQLISKY SLRELHLSFT QGFWRTRYWG PPFLQAPSGA ELWVWFQDTV 

       130        140        150        160        170        180 
TDVDKSWKEL SNVLSGIFCA SLNFIDSTNT VTPTASFKPL GLANDTDHYF LRYAVLPREV 

       190        200        210        220        230        240 
VCTENLTPWK KLLPCSSKAG LSVLLKADRL FHTSYHSQAV HIRPVCRNAR CTSISWELRQ 

       250        260        270        280        290        300 
TLSVVFDAFI TGQGKKDWSL FRMFSRTLTE PCPLASESRV YVDITTYNQD NETLEVHPPP 

       310        320        330        340        350        360 
TTTYQDVILG TRKTYAIYDL LDTAMINNSR NLNIQLKWKR PPENEAPPVP FLHAQRYVSG 

       370        380        390        400        410        420 
YGLQKGELST LLYNTHPYRA FPVLLLDTVP WYLRLYVHTL TITSKGKENK PSYIHYQPAQ 

       430        440        450        460        470        480 
DRLQPHLLEM LIQLPANSVT KVSIQFERAL LKWTEYTPDP NHGFYVSPSV LSALVPSMVA 

       490        500        510        520        530        540 
AKPVDWEESP LFNSLFPVSD GSNYFVRLYT EPLLVNLPTP DFSMPYNVIC LTCTVVAVCY 

       550        560        570 
GSFYNLLTRT FHIEEPRTGG LAKRLANLIR RARGVPPL 

« Hide

Isoform 2 [UniParc].

Checksum: AC75FF3BD9DCB0C2
Show »

FASTA38443,616
Isoform 3 [UniParc].

Checksum: D31A0D75D51AB651
Show »

FASTA36741,905
Isoform 4 [UniParc].

Checksum: 18A9624936EB7553
Show »

FASTA47654,118
Isoform 5 [UniParc].

Checksum: 5085BEC6CC7D5B88
Show »

FASTA52259,582
Isoform 6 [UniParc].

Checksum: EC1AB6BA095A9D23
Show »

FASTA51157,988

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. expand/collapse author list , 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. expand/collapse author list , 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]"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. expand/collapse author list , 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]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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., 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.
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].
[14]"A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT."
Krawitz P.M., Hochsmann B., Murakami Y., Teubner B., Kruger U., Klopocki E., Neitzel H., Hoellein A., Schneider C., Parkhomchuk D., Hecht J., Robinson P.N., Mundlos S., Kinoshita T., Schrezenmeier H.
Blood 122:1312-1315(2013) [PubMed] [Europe PMC] [Abstract]
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.
+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.
CCDSCCDS13353.1. [Q969N2-1]
CCDS54464.1. [Q969N2-5]
CCDS54465.1. [Q969N2-6]
CCDS54466.1. [Q969N2-4]
RefSeqNP_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]
UniGeneHs.437388.

3D structure databases

ProteinModelPortalQ969N2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119633. 7 interactions.
IntActQ969N2. 2 interactions.
MINTMINT-1417476.

PTM databases

PhosphoSiteQ969N2.

Polymorphism databases

DMDM44888284.

Proteomic databases

MaxQBQ969N2.
PaxDbQ969N2.
PRIDEQ969N2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000279035; ENSP00000279035; ENSG00000124155. [Q969N2-4]
ENST00000279036; ENSP00000279036; ENSG00000124155. [Q969N2-1]
ENST00000341555; ENSP00000343783; ENSG00000124155. [Q969N2-2]
ENST00000372689; ENSP00000361774; ENSG00000124155. [Q969N2-6]
ENST00000543458; ENSP00000441577; ENSG00000124155. [Q969N2-5]
GeneID51604.
KEGGhsa:51604.
UCSCuc002xoh.3. human. [Q969N2-1]
uc002xol.2. human. [Q969N2-3]
uc010ghe.2. human. [Q969N2-5]
uc010zwy.3. human. [Q969N2-4]

Organism-specific databases

CTD51604.
GeneCardsGC20P044044.
HGNCHGNC:14938. PIGT.
MIM610272. gene.
615398. phenotype.
615399. phenotype.
neXtProtNX_Q969N2.
Orphanet369837. Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome.
PharmGKBPA33302.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG331717.
HOVERGENHBG049395.
InParanoidQ969N2.
KOK05292.
OMATLEVNPP.
OrthoDBEOG70PBXH.
PhylomeDBQ969N2.
TreeFamTF105921.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00196.

Gene expression databases

ArrayExpressQ969N2.
BgeeQ969N2.
CleanExHS_PIGT.
GenevestigatorQ969N2.

Family and domain databases

InterProIPR007245. PIG-T.
[Graphical view]
PANTHERPTHR12959. PTHR12959. 1 hit.
PfamPF04113. Gpi16. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPIGT. human.
GeneWikiPIGT.
GenomeRNAi51604.
NextBio55490.
PROQ969N2.
SOURCESearch...

Entry information

Entry namePIGT_HUMAN
AccessionPrimary (citable) accession number: Q969N2
Secondary accession number(s): B2RND5 expand/collapse secondary AC list , B7Z3N1, B7Z7I8, E1P622, G8JLF5, Q2NL69, Q7Z3N7, Q9BQY7, Q9BQY8, Q9UJG6, Q9Y2Z5
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 115 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM