| Type | Description |
|---|---|
| Definition | ubiquitin like modifier activating enzyme 5 |
| Date | Results | Publications |
|---|---|---|
| 2020-11-28 13:15:00 | An atypical LIR motif within UBA5 (ubiquitin like modifier activating enzyme 5) interacts with GABARAP proteins and mediates membrane localization of UBA5. | 30990354 |
| 2020-03-07 12:47:00 | Stimulates transfer of UFM1 from UBA5 to the E2, UFC1. | 30412706 |
| 2019-09-28 10:52:00 | Likely pathogenic variants were identified in SOX5 gene, not previously associated with epilepsy, and UBA5, a recently associated with epilepsy gene | 29286531 |
| 2019-06-15 10:21:00 | our results further demonstrate the importance of post-translational modifications such as the addition of an ubiquitin-fold modifier 1 (UFM1) to target proteins (ufmylation) for normal neuronal networks activity, and reveal that the dysfunction of the ubiquitous UBA5 protein is a cause of EME. | 29663568 |
| 2019-03-16 10:43:00 | Hemizygous UBA5 missense mutation was identified in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. | 29902590 |
| Type | IDs |
|---|---|
| Synonymous | EIEE44, SCAR24, THIFP1, UBE1DC1 |
| Gene |
UniProtKB-ID:
UBA5_HUMAN
UniprotKB:
Q9GZZ9
UniParc:
UPI000020A282,
UPI0000037C4F
EMBL:
BC009737,
CH471052,
AB154406,
AL136757,
AK027563,
AY253672,
AC020632,
AK026904
Ensembl:
ENSG00000081307
KO:
hsa:79876
|
| Nucleutide sequences |
EMBL-CDS:
EAW79189.1,
EAW79192.1,
AAH09737.1,
AAP79600.1,
BAD15375.1,
BAB55199.1,
EAW79191.1,
CAB66691.1,
BAB15587.1
Ensembl_TRS:
ENST00000356232,
ENST00000494238,
ENST00000264991
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000348565,
ENSP00000264991,
ENSP00000418807
RefSeq:
NP_001307139.1,
NP_001308167.1,
NP_938143.1,
NP_001308168.1,
NP_079094.1
|
| Others |
UniRef100:
UniRef100_Q9GZZ9
UniRef90:
UniRef90_Q9GZZ9
UniRef50:
UniRef50_Q9GZZ9
UniGene:
Hs.170737
CCDS:
CCDS3076.1,
CCDS3077.1
|
| {{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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