| Type | Description |
|---|---|
| Definition | patatin like phospholipase domain containing 6 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:13:00 | Novel variants in PNPLA6 causing syndromic retinal dystrophy. | 33141049 |
| 2018-10-20 10:56:00 | This result further confirmed the role of PNPLA6 in BoucherNeuhauser syndrome (BNS) and suggested that whole exome sequencing may be applied for the diagnosis of complex syndromes, including BNS, prior to the observation of obvious symptoms. | 29749493 |
| 2018-01-27 11:49:00 | Silencing of PNPLA6, the neuropathy target esterase (NTE) codifying gene, alters early neurodevelopment. | 25255935 |
| 2017-06-03 10:51:00 | These results strongly suggest that PNPLA9, -6 and -4 play a key role in GPL turnover and homeostasis in human cells. A hypothetical model suggesting how these enzymes could recognize the relative concentration of the different GPLs is proposed | 27317427 |
| 2017-02-18 11:37:00 | The unusual medical history with childhood ataxia and hypogonadotropic hypogonadism lead to further examinations and eventually the diagnosis of BNS. The older sister of the proband also displayed the triad of ataxia, HH and chorioretinal dystrophy accompanied by cerebellar atrophy and in 2014, we found the mutations in PNPLA6. | 27866050 |
| Type | IDs |
|---|---|
| Synonymous | BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws |
| Gene |
UniProtKB-ID:
PLPL6_HUMAN,
A0A384DVU0_HUMAN
UniprotKB:
Q8IY17,
A0A384DVU0
UniParc:
UPI0001AE63FF,
UPI0001B909A1,
UPI000387B08D,
UPI000059D64F,
UPI000007200F
EMBL:
AC009003,
AC008878,
BC051768,
BC050553,
AK302462,
CH471139,
BC038229,
AK294021,
AL050362,
AJ004832
Ensembl:
ENSG00000032444
KO:
hsa:10908
|
| Nucleutide sequences |
EMBL-CDS:
AAH38229.1,
EAW69029.1,
BAG57380.1,
CAB43674.1,
BAH13718.1,
AAH50553.1,
CAA06164.1,
AAH51768.1
Ensembl_TRS:
ENST00000545201,
ENST00000414982,
ENST00000450331,
ENST00000221249,
ENST00000600737
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000221249,
ENSP00000394348,
ENSP00000407509,
ENSP00000443323,
ENSP00000473211
RefSeq:
NP_001159586.1,
NP_001159584.1,
NP_006693.3,
NP_001159585.1,
NP_001159583.1
|
| Others |
UniRef100:
UniRef100_Q8IY17,
UniRef100_A0A384DVU0
UniRef90:
UniRef90_Q8IY17,
UniRef90_Q8IY17-5
UniRef50:
UniRef50_Q8IY17,
UniRef50_Q8IY17-5
UniGene:
Hs.631863
CCDS:
CCDS54206.1,
CCDS32891.1,
CCDS54207.1
|
| {{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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