| Type | Description |
|---|---|
| Definition | trafficking protein particle complex 2 like |
| Date | Results | Publications |
|---|---|---|
| 2019-11-16 12:21:00 | deleterious bi-allelic variants in TRAPPC2L are associated with encephalopathy and febrile illness-induced episodes of rhabdomyolysis and subsequent developmental arrest. While the exact pathophysiological route deserves further study, our results suggest a role for RAB11. | 30120216 |
| Type | IDs |
|---|---|
| Synonymous | HSPC176, PERRB |
| Gene |
UniProtKB-ID:
TPC2L_HUMAN,
H3BUK6_HUMAN,
H3BQQ8_HUMAN,
A0A0B4J294_HUMAN
UniprotKB:
Q9UL33,
H3BUK6,
H3BQQ8,
A0A0B4J294
UniParc:
UPI00001AE437,
UPI000006CF2F,
UPI0002467201,
UPI00024671FE,
UPI0000070A2A
EMBL:
AK311885,
AF089106,
AF161524,
AK126779,
BC105809,
BC018024,
BC011369,
AC092384
Ensembl:
ENSG00000167515
KO:
hsa:51693
|
| Nucleutide sequences |
EMBL-CDS:
BAG34826.1,
AAF00568.1,
AAF29139.1,
BAC86686.1,
AAH11369.1,
AAH18024.1,
AAI05810.1
Gene_ORFName:
HSPC126
Ensembl_TRS:
ENST00000301021,
ENST00000567895,
ENST00000561840,
ENST00000568583
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000301021,
ENSP00000457684,
ENSP00000455892,
ENSP00000457728
RefSeq:
NP_001305453.1,
NP_001305454.1,
XP_016878759.1,
NP_001305456.1,
NP_001305459.1,
NP_001305457.1,
NP_001305458.1,
NP_057293.1,
NP_001305461.1,
NP_001305455.1
|
| Others |
UniRef100:
UniRef100_H3BQQ8,
UniRef100_H3BUK6,
UniRef100_Q9UL33,
UniRef100_A0A0B4J294
UniRef90:
UniRef90_A0A5F8A4X4,
UniRef90_A0A0B4J294,
UniRef90_H3BQQ8,
UniRef90_Q9UL33
UniRef50:
UniRef50_Q9UL33,
UniRef50_B5FXJ6,
UniRef50_A0A5F8A4X4,
UniRef50_A0A2I3HS46
UniGene:
Hs.461722
CCDS:
CCDS10971.1
|
| {{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