Type | Description |
---|---|
Definition | geranylgeranyl diphosphate synthase 1 |
Date | Results | Publications |
---|---|---|
2020-12-12 13:27:00 | GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. | 32403198 |
2020-09-26 13:07:00 | Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM). | 32399598 |
2019-11-09 11:07:00 | Overexpression of GGPPS correlates with poor prognosis of lung adenocarcinoma and contributes to metastasis through regulating epithelial-mesenchymal transition. | 29377583 |
2019-11-02 11:00:00 | the impact of the mutated GGPPS and the relevance of the downstream effects in bone cells make it a strong candidate for Atypical femoral fractures susceptibility. | 30184270 |
2017-07-08 10:08:00 | results may support a model in which accumulation of susceptibility variants (including some in relevant genes, notably GGPS1) may lead to a possible genetic component of predisposition to atypical femoral fractures. | 28467865 |
Type | IDs |
---|---|
Synonymous | GGPPS, GGPPS1 |
Gene |
UniProtKB-ID:
GGPPS_HUMAN,
A0A024R3R2_HUMAN
UniprotKB:
O95749,
A0A024R3R2
UniParc:
UPI000012B3FB,
UPI000040E13B
EMBL:
AB019036,
AL391994,
AB017971,
AF125394,
CH471098,
BC005252,
AK293278,
BC067768,
AF057698,
AB016043
Ensembl:
ENSG00000152904
KO:
hsa:9453
|
Nucleutide sequences |
EMBL-CDS:
BAH11480.1,
EAW70018.1,
BAA77251.1,
BAA76511.1,
AAH67768.1,
AAH05252.1,
BAA75909.1,
AAD43050.1,
EAW70020.1,
AAG45581.1,
EAW70017.1,
EAW70019.1,
EAW70016.1
Gene_ORFName:
hCG_19067
Ensembl_TRS:
ENST00000282841,
ENST00000391855,
ENST00000358966,
ENST00000488594
|
Protein sequencees |
Ensembl_PRO:
ENSP00000375728,
ENSP00000282841,
ENSP00000351852,
ENSP00000418690
RefSeq:
NP_001032354.1,
NP_001358407.1,
NP_004828.1,
NP_001032355.1,
NP_001358406.1
|
Others |
UniRef100:
UniRef100_O95749
UniRef90:
UniRef90_O95749
UniRef50:
UniRef50_O95749
UniGene:
Hs.730768
CCDS:
CCDS1604.1
|
{{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