| Type | Description |
|---|---|
| Definition | phosphatidylserine synthase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-06 12:34:00 | used transpose-mediated transgenesis to attempt to stably express wild-type and mutant forms of human PTDSS1 ubiquitously or specifically in chondrocytes, osteoblasts or osteoclasts in zebrafish | 31231513 |
| 2019-03-02 10:17:00 | we report here three patients with LMS and heterozygous mutations in PTDSS1. We describe an adult phenotype and two novel PTDSS1 mutations. We suggest that LMS should be considered in the differential diagnosis of a newborn with CL. | 29341480 |
| 2016-12-17 11:48:00 | RYR2, PTDSS1 and AREG are autism susceptibility genes that are implicated in a Lebanese population-based study of copy number variations in this disease. | 26742492 |
| 2016-09-03 12:18:00 | PSS1 mutations not only affect cellular PS levels and distribution but also lead to a more complex imbalance in lipid homeostasis by disturbing PI4P metabolism. | 27044099 |
| 2014-03-08 11:29:00 | Gain-of-function missense mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. | 24241535 |
| Type | IDs |
|---|---|
| Synonymous | LMHD, PSS1, PSSA |
| Gene |
UniProtKB-ID:
PTSS1_HUMAN
UniprotKB:
P48651
UniParc:
UPI00017A6CE1,
UPI0000132810,
UPI00001BD8FD
EMBL:
BC002376,
AK293513,
KC877275,
BC004390,
D14694,
BC004192,
AP003465
Ensembl:
ENSG00000156471
KO:
hsa:9791
|
| Nucleutide sequences |
EMBL-CDS:
BAG56996.1,
AAH04192.1,
AAH04390.1,
AAH02376.2,
BAA03520.1
Ensembl_TRS:
ENST00000517309,
ENST00000522072
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000430548,
ENSP00000430928
RefSeq:
NP_055569.1,
NP_001277154.1
|
| Others |
UniRef100:
UniRef100_P48651
UniRef90:
UniRef90_P48651
UniRef50:
UniRef50_P48651
UniGene:
Hs.292579
CCDS:
CCDS6271.1
|
| {{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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