| Type | Description |
|---|---|
| Definition | serine active site containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-07-27 11:27:00 | Our study indicates that the cochlear CHI is a phenotypic feature of the RRM2B and SERAC1 related defects. | 30909120 |
| 2018-08-18 10:41:00 | Two novel SERAC1 mutations were identified in two cases of dystonia, 3-methylglutaconic aciduria and intellectual disability syndrome. | 28778788 |
| 2018-07-28 12:10:00 | mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters | 28916646 |
| 2018-01-06 11:13:00 | Several different SERAC1 variants were identified from individuals with Deafness-Dystonia syndrome. | 29205472 |
| 2017-02-18 10:49:00 | Here we report two new Turkish sibling patients affected with MEGDEL syndrome due to SERAC1 gene mutation. | 27186703 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
SRAC1_HUMAN
UniprotKB:
Q96JX3
UniParc:
UPI0000070959,
UPI000013FD65,
UPI0000458A98
EMBL:
BC028594,
AK027823,
BC001705,
AL590703,
AL135907
Ensembl:
ENSG00000122335
KO:
hsa:84947
|
| Nucleutide sequences |
EMBL-CDS:
BAB55393.1,
AAH01705.1,
AAH28594.1
Ensembl_TRS:
ENST00000647468,
ENST00000367101
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000356068,
ENSP00000496731
RefSeq:
XP_011534500.1,
NP_116250.3,
XP_011534498.1,
XP_006715649.1,
XP_024302341.1
|
| Others |
UniRef100:
UniRef100_Q96JX3
UniRef90:
UniRef90_Q96JX3
UniRef50:
UniRef50_Q96JX3
UniGene:
Hs.154706
CCDS:
CCDS5255.1
|
| {{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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