| Type | Description |
|---|---|
| Definition | sterile alpha motif domain containing 12 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-19 13:41:00 | LncRNA SAMD12-AS1 down-regulates P53 to promote malignant progression of glioma. | 31646576 |
| 2020-11-21 13:19:00 | LncRNA SAMD12-AS1 promotes cell proliferation and inhibits apoptosis by interacting with NPM1. | 31406141 |
| 2020-06-13 12:39:00 | identified a novel expanded intronic (TTTGA)n insertion at the same site as the previously reported (TTTCA)n insertion in SAMD12 | 31483537 |
| 2020-05-23 13:17:00 | We identified the pentanucleotide repeat expansion in SAMD12 as the causative mutation in Chinese FCMTE pedigrees. | 30194086 |
| 2019-05-11 10:55:00 | Abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy. Single-molecule, real-time sequencing of BAC clones and nanopore sequencing of genomic DNA identified two repeat configurations in SAMD12. | 29507423 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
SAM12_HUMAN,
H0YEJ0_HUMAN
UniprotKB:
Q8N8I0,
H0YEJ0
UniParc:
UPI000013F8F1,
UPI0000E21C1D
EMBL:
AP003493,
AP003476,
BC121818,
AP003494,
KC877336,
BC124554,
AP003496,
AP003468,
AK096777,
AC023590
Ensembl:
ENSG00000177570
KO:
hsa:401474
|
| Nucleutide sequences |
EMBL-CDS:
BAC04861.1,
AAI21819.1,
AAI24555.1
Ensembl_TRS:
ENST00000314727,
ENST00000524796
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000314173,
ENSP00000435927
RefSeq:
NP_001350203.1,
NP_001095146.1,
NP_001336740.1,
NP_997389.2
|
| Others |
UniRef100:
UniRef100_Q8N8I0,
UniRef100_H0YEJ0
UniRef90:
UniRef90_Q8N8I0,
UniRef90_A0A2I3N789
UniRef50:
UniRef50_A0A2I3N789,
UniRef50_Q8N8I0
UniGene:
Hs.359393,
Hs.701196
CCDS:
CCDS6325.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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