| Type | Description |
|---|---|
| Definition | paired like homeodomain 3 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-27 13:48:00 | Complementation of dopaminergic signaling by Pitx3-GDNF synergy induces dopamine secretion by multipotent Ntera2 cells. | 31310388 |
| 2019-08-24 13:03:00 | The mutation c.797_814del, p.Ser266_Ala271del is a novel mutation in the conserved DNA-binding OAR domain of PITX3 that causes congenital cataract. | 30894134 |
| 2019-08-03 11:43:00 | The functional analysis of these 2 PITX3 mutations in the in vitro functional studies is an important complement and extension, which provides a potential interpretation for the pathogenesis and molecular mechanism of PITX3 mutations associated with CC. | 30816539 |
| 2019-04-13 12:11:00 | Heterozygous mutation in the PITX3 gene is associated with ocular developmental defects. | 29405783 |
| 2018-06-16 11:23:00 | Results show that a common polymorphism in the PITX3 gene affects the risk of developing Parkinson's disease (PD) dementia and visuospatial dysfunction in idiopathic PD. If validated, these findings can provide new insights into the neurobiology and genetics of non-motor symptoms in PD. | 28991698 |
| Type | IDs |
|---|---|
| Synonymous | ASGD1, ASMD, ASOD, CTPP4, CTRCT11, PTX3 |
| Gene |
UniProtKB-ID:
PITX3_HUMAN
UniprotKB:
O75364
UniParc:
UPI0000131B4F
EMBL:
AF041339,
BC011642,
AL160011
Ensembl:
ENSG00000107859
KO:
hsa:5309
|
| Nucleutide sequences |
EMBL-CDS:
AAH11642.1,
AAC24502.1
Ensembl_TRS:
ENST00000539804,
ENST00000370002
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000439383,
ENSP00000359019
RefSeq:
NP_005020.1
|
| Others |
UniRef100:
UniRef100_O75364
UniRef90:
UniRef90_P81062
UniRef50:
UniRef50_O35160
UniGene:
Hs.137568
CCDS:
CCDS7532.1
|
| {{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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