| Type | Description |
|---|---|
| Definition | spastic paraplegia 20, spartin (Troyer syndrome) homolog (human) |
| Date | Results | Publications |
|---|---|---|
| 2020-07-11 12:17:00 | Troyer syndrome with Dwarfism was diagnosed in a family caused by SPG20 compound heterozygous mutations. | 31535723 |
| 2020-02-22 11:02:00 | SPG20, a potential target, is frequently methylated in gastric cancer, representing a novel noninvasive biomarker for early detection of this deadly disease. | 31194837 |
| 2017-10-28 13:40:00 | Here we report the case of three patients of Filipino descent with Troyer syndrome. Whole exome sequencing (WES) identified a homozygous mutation c.364_365delAT which predicts p.Met122Valfs*2 in SPG20 | 27112432 |
| 2017-10-07 11:11:00 | findings evidence a positive correlation between SIRT1 and BCL6 expression increase in follicular lymphomas (FL) . SIRT1 methylation decreases in FL and diffuse large-B cell lymphomas (DLBCL)and this parallels the increase of KLF4, DAPK1 and SPG20 methylation | 28324774 |
| 2015-01-17 11:58:00 | spartin, via the ubiquitin-binding region, binds Lys-63-linked ubiquitin chains but does not bind Lys-48-linked ubiquitin chains. spartin's role in DALIS formation depends on key residues within its ubiquitin-binding region. | 24523286 |
| Type | IDs |
|---|---|
| Synonymous | AI840044, C79168, SPARTIN, Spart, TAHCCP1, mKIAA0610 |
| Gene |
UniProtKB-ID:
SPART_MOUSE,
Q3TVW1_MOUSE
UniprotKB:
Q8R1X6,
Q3TVW1
UniParc:
UPI0000027EF3,
UPI00003BF77E
EMBL:
AK159951,
AK036569,
AK087388,
AK129171,
BC022921,
AK035081
Ensembl:
ENSMUSG00000036580
KO:
mmu:229285
|
| Nucleutide sequences |
EMBL-CDS:
BAC39856.1,
BAC28937.1,
BAC29482.1,
BAC97981.1,
AAH22921.1,
BAE35507.1
Ensembl_TRS:
ENSMUST00000107971,
ENSMUST00000044116,
ENSMUST00000118118
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000042367,
ENSMUSP00000113621,
ENSMUSP00000103605
RefSeq:
XP_006501383.1,
NP_001138459.1,
NP_659144.1,
XP_030108422.1,
NP_001138460.1,
XP_036018929.1,
XP_036018927.1,
XP_036018928.1
|
| Others |
UniRef100:
UniRef100_Q8R1X6
UniRef90:
UniRef90_Q8R1X6
UniRef50:
UniRef50_Q8N0X7
UniGene:
Mm.235523
CCDS:
CCDS50908.1,
CCDS38432.1
|
| {{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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