| Type | Description |
|---|---|
| Definition | retinoic acid induced 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-08 11:10:00 | Sleep disturbances and phase-advanced circadian rhythm in bodytemperature may be related to a complex biology that stems from theinterstitial deletion or mutation ofRAI1within chromosome 17p11.2. | 30690916 |
| 2018-07-07 11:08:00 | This study identified from multiethnic meta-analyses stronger associations between the RAI1 locus and non-REM apnea-hypopnea index in men compared with women. | 29077507 |
| 2017-06-24 10:12:00 | This study provides information about the inheritance pattern and recurrence risk for patients with identified variants and demonstrates clinical and genetic overlap of neurodevelopmental disorders | 28213671 |
| 2017-05-20 13:46:00 | we report molecular and clinical characterizations of six subjects with the reciprocal phenomenon of deletions spanning both genes, i.e., PMP22-RAI1 deletions. Systematic clinical studies revealed features consistent with SMS, including features of intellectual disability, speech and gross motor delays, behavioral problems and ocular abnormalities. | 27386852 |
| 2016-12-17 11:48:00 | RAI1 polymorphisms rs4925102 and rs9907986 are predicted to disrupt the binding of retinoic acid RXR-RAR receptors and the transcription factor DEAF1, respectively, in Smith-Magenis and Potocki-Lupski syndromes patients. | 26743651 |
| Type | IDs |
|---|---|
| Synonymous | SMCR, SMS |
| Gene |
UniProtKB-ID:
RAI1_HUMAN
UniprotKB:
Q7Z5J4
UniParc:
UPI0000070A9C,
UPI00000732AF,
UPI0000200AAF,
UPI0000168647
EMBL:
AJ271790,
AL834468,
AJ271791,
AY172136,
AL133649,
AB058723,
AL834486,
BC021209
Ensembl:
ENSG00000108557
KO:
hsa:10743
|
| Nucleutide sequences |
EMBL-CDS:
CAC20424.1,
CAB63768.1,
CAC20423.1,
BAB47449.1,
AAH21209.1,
AAO31738.1,
CAD39144.1,
CAD39127.1
Ensembl_TRS:
ENST00000353383
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000323074
RefSeq:
NP_109590.3,
XP_016879515.1,
XP_016879516.1,
XP_016879514.1,
XP_016879517.1
|
| Others |
UniRef100:
UniRef100_Q7Z5J4
UniRef90:
UniRef90_Q7Z5J4
UniRef50:
UniRef50_Q7Z5J4
UniGene:
Hs.655395,
Hs.727059
CCDS:
CCDS11188.1
|
| {{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