| Type | Description |
|---|---|
| Definition | phosphatidylinositol glycan anchor biosynthesis class G |
| Date | Results | Publications |
|---|---|---|
| 2020-04-18 11:43:00 | Arg658Gln mutation segregates with nonsyndromic intellectual disability in Iranian family. | 31414351 |
| 2018-05-12 11:56:00 | Based on genetic and functional evidence, we confirm that pathogenic variants in PIGG cause an intellectual disability syndrome, and we find that loss of function of PIGG is associated with Glycosylphosphatidylinositol deficiency | 28581210 |
| 2016-09-03 10:16:00 | loss-of-function variants in PIGG associated with intellectual disability and hypotonia | 26996948 |
| 2010-04-07 21:40:00 | Observational study of gene-disease association. (HuGE Navigator) | 20198315 |
| 2010-04-07 21:40:00 | Observational study of gene-disease association. (HuGE Navigator) | 19724895 |
| Type | IDs |
|---|---|
| Synonymous | GPI7, LAS21, MRT53, PRO4405, RLGS1930 |
| Gene |
UniProtKB-ID:
PIGG_HUMAN,
Q8NCI4_HUMAN,
E7EWV1_HUMAN,
D6RFE8_HUMAN
UniprotKB:
Q5H8A4,
Q8NCI4,
E7EWV1,
D6RFE8
UniParc:
UPI00004C7A82,
UPI0000DAC9B4,
UPI0000DAC9B3,
UPI0001D3B0B7,
UPI0000072C2B,
UPI0000070148,
UPI000013EFF1,
UPI0001638AC3,
UPI00017A761A
EMBL:
BC000937,
AB162713,
AK097244,
AC092574,
AC116565,
AK074715,
BC001249,
AK296507,
AY358538,
BC110878,
AK074815,
AK000272,
AK027465
Ensembl:
ENSG00000174227
KO:
hsa:54872
|
| Nucleutide sequences |
EMBL-CDS:
AAH01249.2,
BAC04984.1,
AAI10879.1,
AAH00937.2,
BAA91046.1,
BAC11227.1,
BAD89023.1,
BAG59139.1,
AAQ88902.1,
BAB55130.1,
BAC11157.1
Gene_ORFName:
UNQ1930/PRO4405
Ensembl_TRS:
ENST00000310340,
ENST00000453061,
ENST00000503111,
ENST00000383028,
ENST00000504346,
ENST00000509768
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000426002,
ENSP00000311750,
ENSP00000415203,
ENSP00000372494,
ENSP00000424800,
ENSP00000421550
RefSeq:
NP_001332916.1,
XP_011511794.1,
NP_001332918.1,
NP_001332920.1,
NP_001332917.1,
NP_001120650.1,
XP_011511793.1,
NP_060203.3,
NP_001275980.1,
NP_001332923.1,
XP_011511796.1,
NP_001332915.1,
NP_001332919.1,
NP_001275982.1,
NP_001275981.1,
NP_001275984.1,
NP_001275986.1,
XP_011511792.1
|
| Others |
UniRef100:
UniRef100_Q8NCI4,
UniRef100_Q5H8A4,
UniRef100_D6RFE8
UniRef90:
UniRef90_Q5H8A4,
UniRef90_D6RFE8
UniRef50:
UniRef50_D6RFE8,
UniRef50_Q5H8A4
UniGene:
Hs.7099
CCDS:
CCDS46992.1,
CCDS75083.1,
CCDS3336.1,
CCDS75080.1
|
| {{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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