| Type | Description |
|---|---|
| Definition | SCY1 like pseudokinase 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:26:00 | Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review. | 32146038 |
| 2019-05-11 10:26:00 | SCYL1 splicing mutation causes cerebellar ataxia, recurrent episodes of liver failure, and growth retardation. | 30258122 |
| 2019-03-02 12:05:00 | SCYL1 deficiency can cause recurrent low-GGT cholestatic liver dysfunction in conjunction with a variable neurological phenotype | 29419818 |
| 2017-09-30 12:56:00 | findings indicate that SCYL1 does not contribute to REST turnover and thus do not support a previous study suggesting a role for SCYL1 in mediating REST degradation | 28570664 |
| 2016-03-26 10:36:00 | Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia. | 26581903 |
| Type | IDs |
|---|---|
| Synonymous | GKLP, HT019, NKTL, NTKL, P105, SCAR21, TAPK, TEIF, TRAP |
| Gene |
UniProtKB-ID:
SCYL1_HUMAN,
E9PK59_HUMAN
UniprotKB:
Q96KG9,
E9PK59
UniParc:
UPI0000DE1F8E,
UPI0000DE1F8F,
UPI0001F77EB7,
UPI0000DE1F90,
UPI0000035B94,
UPI00000728AC,
UPI000006EFAB
EMBL:
AB047077,
CH471076,
AB051427,
AF255613,
BC069233,
AF225424,
AB051428,
AF297709,
BC009967,
AP000769
Ensembl:
ENSG00000142186
KO:
hsa:57410
|
| Nucleutide sequences |
EMBL-CDS:
BAB55454.1,
AAG09726.1,
AAH09967.2,
BAB55458.1,
AAG17902.1,
BAB55459.1,
EAW74399.1,
AAH69233.1,
AAF81422.1
Gene_ORFName:
HT019
Ensembl_TRS:
ENST00000533862,
ENST00000270176,
ENST00000420247,
ENST00000525364
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000437254,
ENSP00000408192,
ENSP00000270176,
ENSP00000431635
RefSeq:
XP_024304387.1,
XP_016873520.1,
NP_001041683.1,
XP_016873522.1,
XP_005274177.1,
XP_016873519.1,
XP_024304388.1,
XP_005274175.1,
NP_065731.3,
XP_005274178.1
|
| Others |
UniRef100:
UniRef100_Q96KG9,
UniRef100_E9PK59
UniRef90:
UniRef90_Q96KG9,
UniRef90_A0A2R9A7P6
UniRef50:
UniRef50_Q96KG9
UniGene:
Hs.238839
CCDS:
CCDS44646.1,
CCDS41672.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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