| Type | Description |
|---|---|
| Definition | TBC1 domain containing kinase |
| Date | Results | Publications |
|---|---|---|
| 2019-12-28 11:49:00 | These findings suggest that miR-1208 acts as a tumor suppressor and targets TBCK directly, thus possessing great potential for use in renal cancer therapy. | 31331056 |
| 2019-07-13 10:38:00 | Evidence that TBC1 domain-containing kinase (TBCK) deficiency disorder associated with homozygous TBCK mutations is a novel type of lysosomal storage disease. | 30591081 |
| 2019-04-06 11:51:00 | A novel TBCK mutation was identified in two siblings with infantile hypotonia, psychomotor retardation and characteristic facies type 3. | 30103036 |
| 2019-01-26 11:01:00 | TBCK-encephaloneuronopathy is a clinically distinguishable syndrome with progressive central and peripheral nervous system dysfunction, consistently observed in patients with the TBCK mutation | 29283439 |
| 2017-10-28 13:41:00 | We conclude that the c.1854delT variant in the TBCK gene is the mutation causing the congenital brain abnormality in an Arab-Moslem family from northern Israel. | 27748029 |
| Type | IDs |
|---|---|
| Synonymous | HSPC302, IHPRF3, TBCKL |
| Gene |
UniProtKB-ID:
TBCK_HUMAN,
Q5HYF5_HUMAN,
A0A024RDH3_HUMAN
UniprotKB:
Q8TEA7,
Q5HYF5,
A0A024RDH3
UniParc:
UPI000003B475,
UPI0000367275,
UPI00004C414C,
UPI000013EF70,
UPI0000E5AC30
EMBL:
AC109361,
KF457800,
AF161420,
AC114734,
AP001820,
BC068496,
AC093680,
AC107381,
BC020853,
AK098157,
AC125469,
CH471057,
AK074305,
AB449876,
BX647851,
BC009208
Ensembl:
ENSG00000145348
KO:
hsa:93627
|
| Nucleutide sequences |
EMBL-CDS:
BAB85045.1,
EAX06201.1,
AAH68496.1,
AAY41041.1,
BAH16619.1,
AAF28980.1,
AAH20853.2,
AAH09208.2,
AAY40979.1,
BAC05244.1,
CAI46102.1,
EAX06202.1
Gene_ORFName:
HSPC302,
hCG_20770
Ensembl_TRS:
ENST00000394706,
ENST00000273980,
ENST00000394708,
ENST00000361687,
ENST00000467183
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000378196,
ENSP00000273980,
ENSP00000355338,
ENSP00000378198,
ENSP00000421182
RefSeq:
NP_149106.3,
XP_024310050.1,
NP_001156909.2,
XP_016864337.1,
XP_011530719.1,
XP_024310049.1,
XP_016864335.1,
NP_001156907.2,
XP_016864336.1,
NP_001156908.2,
NP_001277697.2,
XP_016864338.1
|
| Others |
UniRef100:
UniRef100_Q8TEA7,
UniRef100_Q5HYF5,
UniRef100_A0A024RDH3
UniRef90:
UniRef90_Q8TEA7,
UniRef90_Q5HYF5
UniRef50:
UniRef50_A0A672UAK4,
UniRef50_Q8TEA7
UniGene:
Hs.292986
CCDS:
CCDS3673.1,
CCDS54788.1,
CCDS54789.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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