| Type | Description |
|---|---|
| Definition | prolyl endopeptidase like |
| Date | Results | Publications |
|---|---|---|
| 2021-03-20 13:28:00 | A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings. | 32707643 |
| 2018-09-22 10:52:00 | we report the first homozygous PREPL point mutation in a girl with typical PREPL deficiency. This syndrome should be considered in the differential diagnosis of hypotonic neonates exhibiting myasthenic symptoms, hyperphagia, and various degrees of ID. | 29483676 |
| 2013-10-19 14:33:00 | Deletion of PREPL is associated with Hypotonia-cystinuria syndrome. | 23794250 |
| 2013-03-30 12:18:00 | Two novel deletions encompassing the SLC3A1 and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients. | 22796000 |
| 2010-01-21 00:00:00 | Deletion of the gene results in hypotonia at birth, failure to thrive and growth hormone deficiency | 16913837 |
| Type | IDs |
|---|---|
| Synonymous | CMS22 |
| Gene |
UniProtKB-ID:
PPCEL_HUMAN
UniprotKB:
Q4J6C6
UniParc:
UPI000004FD8A,
UPI0000D61193,
UPI0000552B08,
UPI0000208358
EMBL:
AB007896,
AK131463,
CH471053,
DQ023503,
BC013193,
DQ023504,
DQ023507,
BC151236,
DQ023506,
AC013717,
DQ023505
Ensembl:
ENSG00000138078
KO:
hsa:9581
|
| Nucleutide sequences |
EMBL-CDS:
AAI51237.1,
AAY89635.1,
AAX88956.1,
AAY89638.1,
EAX00276.1,
BAD18608.1,
AAY89634.1,
AAY89637.1,
AAH13193.1,
BAA23709.1,
AAY89636.1,
EAX00277.1,
EAX00275.1
Ensembl_TRS:
ENST00000425263,
ENST00000409957,
ENST00000410081,
ENST00000409936,
ENST00000378520,
ENST00000541738,
ENST00000409272,
ENST00000426481,
ENST00000378511,
ENST00000409411,
ENST00000260648
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000439626,
ENSP00000386509,
ENSP00000386909,
ENSP00000367781,
ENSP00000387241,
ENSP00000367772,
ENSP00000409480,
ENSP00000391456,
ENSP00000387095,
ENSP00000386543,
ENSP00000260648
RefSeq:
NP_001361206.1,
NP_001035845.1,
NP_001035844.1,
NP_001361204.1,
NP_001165074.1,
NP_001165088.1,
NP_001361205.1,
NP_006027.2,
NP_001165077.1,
NP_001165084.1,
XP_016860873.1,
XP_016860874.1
|
| Others |
UniRef100:
UniRef100_Q4J6C6
UniRef90:
UniRef90_Q4J6C6
UniRef50:
UniRef50_Q4J6C6
UniGene:
Hs.444349
CCDS:
CCDS54353.1,
CCDS42675.1,
CCDS33190.1,
CCDS42676.1
|
| {{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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