| Type | Description |
|---|---|
| Definition | SPG11 vesicle trafficking associated, spatacsin |
| Date | Results | Publications |
|---|---|---|
| 2021-01-23 13:01:00 | Identification of a Mutation in SPG11 in an Iranian Patient with Spastic Paraplegia and Ears of the Lynx Sign. | 32040826 |
| 2020-03-28 10:52:00 | Investigated spastic paraplegia type 11 (SPG11) mutations in Chinese patients with autosomal recessive hereditary spastic paraplegia. | 31900114 |
| 2020-03-14 12:11:00 | ZFYVE26 and SPG11 are differently involved in autophagy and endocytosis. | 30081747 |
| 2019-11-30 12:20:00 | Whereas, a previously reported variant c.5769delT (p.Ser1923Argfs*28) in the SPG11 gene was identified in family B manifesting clinical features of SPG11 in 3 affected individuals | 31281085 |
| 2019-07-06 12:24:00 | Compound heterozygous mutations of the SPG11 gene were identified in the index patient and her younger brother, while the parents were carriers | 28681766 |
| Type | IDs |
|---|---|
| Synonymous | ALS5, CMT2X, KIAA1840 |
| Gene |
UniProtKB-ID:
SPTCS_HUMAN
UniprotKB:
Q96JI7
UniParc:
UPI0001A47199,
UPI0001AE6833,
UPI0000456840
EMBL:
AC009996,
BC153879,
AK025092,
BC150640,
AB058743,
AK091176,
AY954502,
BC094704,
BC024161,
BC067798,
AL834168
Ensembl:
ENSG00000104133
KO:
hsa:80208
|
| Nucleutide sequences |
EMBL-CDS:
AAH94704.1,
BAC03600.1,
BAB15065.1,
AAX54692.1,
AAH24161.2,
AAI50641.1,
AAI53880.1,
CAH10686.1,
AAH67798.1,
BAB47469.2
Ensembl_TRS:
ENST00000261866,
ENST00000558319,
ENST00000535302
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000445278,
ENSP00000453599,
ENSP00000261866
RefSeq:
NP_079413.3,
NP_001153699.1,
XP_006720764.1,
XP_016878124.1,
XP_016878123.1,
XP_006720763.1,
XP_016878125.1
|
| Others |
UniRef100:
UniRef100_Q96JI7
UniRef90:
UniRef90_Q96JI7
UniRef50:
UniRef50_Q96JI7
UniGene:
Hs.656271,
Hs.683876
CCDS:
CCDS53939.1,
CCDS10112.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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