| Type | Description |
|---|---|
| Definition | Era like 12S mitochondrial rRNA chaperone 1 |
| Date | Results | Publications |
|---|---|---|
| 2017-12-16 11:46:00 | Three women from three different families presented with signs of PS, including deafness and ovarian dysgenesis. We employed exome sequencing and identified a homozygous missense mutation in the ERAL1 gene, c.707A > T. The mutation leads to a damaging p.Asn236Ile substitution that is likely to interfere with the GTP binding capacity of the ERAL1 protein. | 28449065 |
| 2010-10-23 10:04:00 | Data show that loss of ERAL1 leads to rapid decay of nascent 12S mt-rRNA, consistent with a role as a mitochondrial RNA chaperone. | 20604745 |
| Type | IDs |
|---|---|
| Synonymous | CEGA, ERA, ERA-W, ERAL1A, ERAL1B, H-ERA, HERA-A, HERA-B, PRLTS6 |
| Gene |
UniProtKB-ID:
ERAL1_HUMAN
UniprotKB:
O75616
UniParc:
UPI000006DECC,
UPI000049E310
EMBL:
CH471159,
AF082657,
AY007435,
AF082658,
AK023342,
AB049388,
AC024267,
BC019094
Ensembl:
ENSG00000132591
KO:
hsa:26284
|
| Nucleutide sequences |
EMBL-CDS:
AAC31604.1,
AAG12978.1,
BAG51183.1,
AAC31603.1,
EAW51147.1,
AAH19094.1,
BAB56112.1
Ensembl_TRS:
ENST00000254928
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000254928
RefSeq:
NP_001304915.1,
NP_001304914.1,
NP_005693.1
|
| Others |
UniRef100:
UniRef100_O75616
UniRef90:
UniRef90_O75616
UniRef50:
UniRef50_O75616
UniGene:
Hs.3426
CCDS:
CCDS11244.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员