| Type | Description |
|---|---|
| Definition | phosphatidylinositol glycan anchor biosynthesis class H |
| Date | Results | Publications |
|---|---|---|
| 2019-11-16 12:42:00 | The GPI-anchor negative phenotype results from loss of mRNA expression of the PIGH gene, which is involved in the first step of GPI-anchor synthesis. Loss of PIGH mRNA expression within these B-ALL cells follows epigenetic silencing rather than gene mutation or deletion. | 30370942 |
| 2019-06-01 12:00:00 | Truncation of PIGH protein was consistent with the utilization of an in-frame start-site at codon 63. In summary, we describe siblings harboring a homozygous c.1A > T variant resulting in defective GPI-anchor biogenesis and highlight the importance of exploring low-coverage variants within autozygous regions. | 29573052 |
| 2019-06-01 11:28:00 | This suggests that PIGH mutations may cause a syndrome with developmental delay and autism, but without an epileptic encephalopathy, and should increase the awareness of the potentially deleterious nature of biallelic variants in this gene. | 29603516 |
| 2018-07-23 13:15:00 | Results from a study on gene expression variability markers in early-stage human embryos shows that PIGH is a putative expression variability marker for the 3-day, 8-cell embryo stage. | 26288249 |
| Type | IDs |
|---|---|
| Synonymous | GPI-H |
| Gene |
UniProtKB-ID:
PIGH_HUMAN
UniprotKB:
Q14442
UniParc:
UPI0000131AB2
EMBL:
AK314108,
CH471061,
BC071849,
BC004100,
L19783,
BT006804
Ensembl:
ENSG00000100564
KO:
hsa:5283
|
| Nucleutide sequences |
EMBL-CDS:
AAH04100.1,
EAW80942.1,
AAH71849.1,
AAA03545.1,
BAG36801.1,
AAP35450.1
Ensembl_TRS:
ENST00000216452
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000216452
RefSeq:
XP_011535140.1,
NP_004560.1,
XP_016876860.1,
NP_001350623.1
|
| Others |
UniRef100:
UniRef100_Q14442
UniRef90:
UniRef90_Q14442
UniRef50:
UniRef50_Q14442
UniGene:
Hs.553497
CCDS:
CCDS9784.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员