| Type | Description |
|---|---|
| Definition | TBC1 domain family member 7 |
| Date | Results | Publications |
|---|---|---|
| 2019-03-23 10:12:00 | findings reveal that Akt activity determines the phosphorylation status of TBC1D7 at the phospho-switch Ser-124, which governs binding to either 14-3-3 or beta-TrCP2, resulting in increased or decreased stability of TBC1D7, respectively. | 30143532 |
| 2016-10-08 11:56:00 | Each TBC1D7 molecule interacts simultaneously with two parallel TSC1 helices from two TSC1 molecules, suggesting that TBC1D7 may stabilize the TSC complex by tethering the C-terminal ends of two TSC1 coiled-coils. | 26893383 |
| 2015-01-31 10:46:00 | DNA mutational studies allow enlarging the phenotypic spectrum associated with TBC1D7 mutations and defining a TBC1D7 syndrome. | 24515783 |
| 2014-07-19 12:59:00 | Study suggests that disruption of TBC1D7 causes ID but without the other typical features found in TSC. | 23687350 |
| 2013-02-02 10:23:00 | TBC1D7 knockdown results in increased mTORC1 signaling. | 22795129 |
| Type | IDs |
|---|---|
| Synonymous | MGCPH, PIG51, TBC7 |
| Gene |
UniProtKB-ID:
TBCD7_HUMAN,
U3KPY5_HUMAN,
A0A024R011_HUMAN,
Q5JPB9_HUMAN,
A0A024QZX0_HUMAN
UniprotKB:
Q9P0N9,
U3KPY5,
A0A024R011,
Q5JPB9,
A0A024QZX0
UniParc:
UPI000020D53A,
UPI000018CE97,
UPI00004C3E09,
UPI000067C9EA,
UPI000006FB45,
UPI0000073B32
EMBL:
AL833474,
AF151073,
AY826820,
AL589984,
BC050465,
CH471087,
AL008729,
BC007054,
AB449888,
AY542308,
AK223445,
AK057228
Ensembl:
ENSG00000145979
KO:
hsa:51256,
hsa:107080638
|
| Nucleutide sequences |
EMBL-CDS:
AAF36159.1,
AAH07054.1,
BAH16631.1,
BAB71389.1,
AAH50465.1,
EAW55323.1,
BAD97165.1,
AAX18640.1,
AAT08177.1,
EAW55325.1,
EAW55324.1,
CAI46116.1,
EAW55326.1
Gene_ORFName:
HSPC239,
hCG_37421,
hCG_37421
Ensembl_TRS:
ENST00000379300,
ENST00000379307,
ENST00000606214,
ENST00000343141,
ENST00000356436,
ENST00000606370
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000368602,
ENSP00000343100,
ENSP00000348813,
ENSP00000368609,
ENSP00000475727,
ENSP00000475355
RefSeq:
NP_001137436.1,
NP_001245386.1,
NP_057579.1,
NP_001305734.1,
NP_001137438.1,
NP_001305735.1,
NP_001137437.1
|
| Others |
UniRef100:
UniRef100_U3KPY5,
UniRef100_Q9P0N9,
UniRef100_A0A024R011
UniRef90:
UniRef90_Q9P0N9,
UniRef90_A0A2K5ITS0
UniRef50:
UniRef50_A0A2K5ITS0,
UniRef50_Q9P0N9
UniGene:
Hs.484678
CCDS:
CCDS58995.1,
CCDS47376.1,
CCDS4523.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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}} - |
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