| Type | Description |
|---|---|
| Definition | phosphatidylinositol glycan anchor biosynthesis class T |
| Date | Results | Publications |
|---|---|---|
| 2018-07-14 11:04:00 | Whole-exome sequencing revealed compound heterozygous mutations (c.250G > T, p.Glu84X and c.1096G > T, p.Gly366Trp) in PIGT (NM_015937.5), which were confirmed using Sanger sequencing. Thus inherited GPI anchor deficiency associated with these PIGT mutations was diagnosed | 28728837 |
| 2017-09-16 11:04:00 | PIGT-knockout HEK293 cells showed that p.(E237Q) results in a small reduction in the amount of CD59 anchored to the cell membrane. | 28327575 |
| 2014-02-22 10:16:00 | mutations in PIGT as the cause of a novel autosomal recessive intellectual disability syndrome | 23636107 |
| 2013-11-16 12:27:00 | Germline mutation and a somatic mutation in PIGT is associated with paroxysmal nocturnal hemoglobinuria. | 23733340 |
| 2010-01-21 00:00:00 | ER-localized because of information in its transmembrane span | 15713669 |
| Type | IDs |
|---|---|
| Synonymous | CGI-06, MCAHS3, NDAP, PNH2 |
| Gene |
UniProtKB-ID:
PIGT_HUMAN
UniprotKB:
Q969N2
UniParc:
UPI000003B0D0,
UPI00001558B8,
UPI0000D4E7AC,
UPI000023FF16,
UPI000023FF17,
UPI00001A9DB8
EMBL:
AK302093,
AY358588,
AK225517,
BC136827,
BC015022,
AL121742,
AB057724,
AL021578,
AK296139,
BC136828,
BX537612,
BC110892,
AF132940,
CH471077,
AK075469
Ensembl:
ENSG00000124155
KO:
hsa:51604
|
| Nucleutide sequences |
EMBL-CDS:
CAD97799.1,
BAH12267.1,
BAC11639.1,
BAB60854.1,
AAH15022.3,
EAW75844.1,
AAI36828.1,
EAW75845.1,
BAH13624.1,
AAD27715.1,
AAI36829.1,
EAW75846.1,
AAI10893.1,
AAQ88951.1,
CAB57341.1
Gene_ORFName:
PSEC0163,
UNQ716/PRO1379,
CGI-06
Ensembl_TRS:
ENST00000279036,
ENST00000543458,
ENST00000545755,
ENST00000372689,
ENST00000279035
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000441577,
ENSP00000361774,
ENSP00000279036,
ENSP00000279035,
ENSP00000443963
RefSeq:
NP_001171658.1,
NP_001171659.1,
NP_057021.2,
NP_001171657.1
|
| Others |
UniRef100:
UniRef100_Q969N2
UniRef90:
UniRef90_Q969N2
UniRef50:
UniRef50_Q969N2
UniGene:
Hs.437388
CCDS:
CCDS13353.1,
CCDS54464.1,
CCDS54466.1,
CCDS54465.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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