| Type | Description |
|---|---|
| Definition | post-GPI attachment to proteins 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-11-28 13:15:00 | The Asthma-associated PER1-like domain-containing protein 1 (PERLD1) Haplotype Influences Soluble Glycosylphosphatidylinositol Anchor Protein (sGPI-AP) Levels in Serum and Immune | 31959860 |
| 2018-08-11 11:11:00 | Data show that biallelic loss of function mutations in the post-GPI attachment to proteins 3 (PGAP3) gene were detected in all patients. | 28390064 |
| 2017-12-16 11:21:00 | A screening approach with sequence specific baits for transcripts of genes of the GPI pathway identified pathogenic noncoding mutations in PGAP3 subtype of hyperphosphatasia with mental retardation syndrome. Besides five missense mutations, an intronic mutation was found causing an aberrant splice product and a mutation in the 3'UTR that is associated with substantially lower mRNA levels. | 27120253 |
| 2014-04-05 10:56:00 | Impairment of PGAP3 causes a subtype of hyperphosphatasia with intellectual disabilities, a congenital disorder of glycosylation that is also referred to as Mabry syndrome. | 24439110 |
| 2014-01-18 11:14:00 | Data show that glycosylphosphatidylinositol-anchored proteins (GPI-APs) are secreted into the medium by cells overexpressing PGAP3. | 23615438 |
| Type | IDs |
|---|---|
| Synonymous | AGLA546, CAB2, PERLD1, PP1498, hCOS16 |
| Gene |
UniProtKB-ID:
PGAP3_HUMAN,
A8K0P7_HUMAN,
J3QKU0_HUMAN
UniprotKB:
Q96FM1,
A8K0P7,
J3QKU0
UniParc:
UPI00003D08FE,
UPI0000039EAA,
UPI000013E68C,
UPI00015DA484,
UPI00017A7057
EMBL:
AK289612,
BC010652,
AY358437,
AK294639,
AK075474,
AB088396,
CH471152,
AC087491
Ensembl:
ENSG00000161395
KO:
hsa:93210
|
| Nucleutide sequences |
EMBL-CDS:
BAC11642.1,
BAC55580.1,
EAW60592.1,
AAH10652.2,
AAQ88803.1,
BAG57818.1,
BAF82301.1
Gene_ORFName:
UNQ546/PRO1100
Ensembl_TRS:
ENST00000429199,
ENST00000378011,
ENST00000300658,
ENST00000579146
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000300658,
ENSP00000367250,
ENSP00000415765,
ENSP00000463234
RefSeq:
XP_011523782.1,
XP_011523783.1,
NP_001278655.1,
NP_001278662.1,
NP_219487.3,
NP_001278659.1,
NP_001278657.1,
NP_001278661.1
|
| Others |
UniRef100:
UniRef100_A8K0P7,
UniRef100_Q96FM1,
UniRef100_J3QKU0
UniRef90:
UniRef90_Q96FM1,
UniRef90_J3QKU0,
UniRef90_Q9HBS1
UniRef50:
UniRef50_Q96FM1,
UniRef50_A0A452USZ2,
UniRef50_Q9HBS1
UniGene:
Hs.462971
CCDS:
CCDS77015.1,
CCDS32641.1,
CCDS77013.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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