| Type | Description |
|---|---|
| Definition | synaptic Ras GTPase activating protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:51:00 | Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability. | 33308442 |
| 2021-01-23 13:02:00 | SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons. | 32887745 |
| 2020-08-12 11:27:00 | A broad spectrum of neurologic and neurodevelopmental features are found with pathogenic variants of SYNGAP1. | 31395010 |
| 2020-06-06 12:10:00 | Discussion on the clinical spectrum and molecular pathophysiology of SYNGAP1 mutations, aiming to understand how mutations in this protein affect neuronal development and function and how that translates into the clinical features observed in Mental retardation-type 5 patients (review). | 31454529 |
| 2020-02-29 10:52:00 | SynGAP protein retains biological functions throughout adulthood and that non-developmental functions may contribute to disease phenotypes. | 31025938 |
| Type | IDs |
|---|---|
| Synonymous | MRD5, RASA1, RASA5, SYNGAP |
| Gene |
UniProtKB-ID:
SYGP1_HUMAN,
A0A1U9X8L0_HUMAN,
B7ZCA0_HUMAN
UniprotKB:
Q96PV0,
A0A1U9X8L0,
B7ZCA0
UniParc:
UPI0000470C44,
UPI00017994F0,
UPI00004588C8,
UPI000153BFCD,
UPI0000EE0723
EMBL:
KY500665,
AB067525,
KY500666,
CH471081,
BX088650,
KY500667,
AL021366,
AL662799,
KY500664,
AL713634,
KY500663
Ensembl:
ENSG00000227460,
ENSG00000197283
KO:
hsa:8831
|
| Nucleutide sequences |
EMBL-CDS:
CAD28452.1,
BAB67831.2,
CAA16161.1,
AQY77135.1,
EAX03735.1,
AQY77138.1,
AQY77136.1,
AQY77139.1,
AQY77137.1
Gene_ORFName:
hCG_17529
Ensembl_TRS:
ENST00000646630,
ENST00000395071,
ENST00000418600,
ENST00000455687,
ENST00000414753,
ENST00000628646,
ENST00000428982,
ENST00000629380,
ENST00000449372
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000496007,
ENSP00000378509,
ENSP00000414259,
ENSP00000486463,
ENSP00000407995,
ENSP00000412475,
ENSP00000486431,
ENSP00000403636,
ENSP00000416519
RefSeq:
NP_006763.2,
NP_001123538.1
|
| Others |
UniRef100:
UniRef100_B7ZCA0,
UniRef100_Q96PV0
UniRef90:
UniRef90_Q96PV0,
UniRef90_A0A2I3RBQ9
UniRef50:
UniRef50_Q96PV0
UniGene:
Hs.586264
CCDS:
CCDS34434.2
|
| {{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