| Type | Description |
|---|---|
| Definition | post-GPI attachment to proteins 1 |
| Date | Results | Publications |
|---|---|---|
| 2016-09-24 10:53:00 | Study confirms homozygous loss-of function mutations in PGAP1 as a cause of severe encephalopathy. | 26050939 |
| 2016-08-27 10:31:00 | PGAP1 mutation and a proven functional loss of PGAP1 were found in a patient with cerebral visual impairment and intellectual diasability. | 25804403 |
| 2014-11-29 10:04:00 | results add PGAP1 to the growing list of GPI abnormalities and indicate that not only the cell surface expression levels of GPI-APs but also the fine structure of GPI-anchors is important for the normal neurological development | 24784135 |
| 2010-06-30 22:06:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| 2010-01-21 00:00:00 | PGAP1 encoded an ER-associated, 922-amino acid membrane protein bearing a lipase consensus motif. | 14734546 |
| Type | IDs |
|---|---|
| Synonymous | Bst1, ISPD3024, MRT42, SPG67 |
| Gene |
UniProtKB-ID:
PGAP1_HUMAN
UniprotKB:
Q75T13
UniParc:
UPI0000EE364D,
UPI0000EF88B5,
UPI000035154F,
UPI000022BDA0
EMBL:
AY358624,
AB128038,
AC012486,
BX648642,
BC040517,
AC017035,
AK022439
Ensembl:
ENSG00000197121
KO:
hsa:80055
|
| Nucleutide sequences |
EMBL-CDS:
AAQ88987.1,
BAD13427.1,
BAB14035.1,
AAX88854.1,
CAH10543.1,
AAY15059.1
Gene_ORFName:
UNQ3024/PRO9822
Ensembl_TRS:
ENST00000354764,
ENST00000409475
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000346809,
ENSP00000387028
RefSeq:
NP_079265.2,
NP_001308028.1,
XP_016860483.1,
NP_001308029.1,
XP_024308924.1,
XP_016860482.1,
XP_016860481.1
|
| Others |
UniRef100:
UniRef100_Q75T13
UniRef90:
UniRef90_Q75T13
UniRef50:
UniRef50_Q75T13
UniGene:
Hs.229988
CCDS:
CCDS2318.1
|
| {{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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