| Type | Description |
|---|---|
| Definition | tubulin folding cofactor E |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:28:00 | Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations. | 32275946 |
| 2019-02-23 13:15:00 | Mutation analysis of the TBCE gene revealed the common 12-bp (155-166del) deletion in three new Sanjad-Sakati syndrome patients from Tunisia. | 30638765 |
| 2018-05-19 10:38:00 | TBCE protein was localized in the middle region and in the tail of the sperm while in the oocyte the localization was cytosolic. | 28583220 |
| 2017-05-27 10:26:00 | Although loss of function of TBCE has been documented to impact multiple developmental processes, the present findings provide evidence that hypomorphic TBCE mutations primarily drive neurodegeneration | 27666369 |
| 2016-06-11 11:24:00 | Sanjad-Sakati syndrome molecular pathology has been shown to be due to mutations in the TBCE gene on chromosome 1q42-q43. | 26231322 |
| Type | IDs |
|---|---|
| Synonymous | HRD, KCS, KCS1, PEAMO, pac2 |
| Gene |
UniProtKB-ID:
TBCE_HUMAN,
A0A2R8Y6Q1_HUMAN
UniprotKB:
Q15813,
A0A2R8Y6Q1
UniParc:
UPI000006F791,
UPI000013D4D6,
UPI0001914D1A
EMBL:
KF455168,
U61232,
AK292287,
CH471098,
AL391994,
AL357556,
BT007086,
FO393422,
BC008654,
AK296185,
AC206484,
AL672237
Ensembl:
ENSG00000285053,
ENSG00000282984,
ENSG00000284770
KO:
hsa:6905
|
| Nucleutide sequences |
EMBL-CDS:
BAF84976.1,
AAB17538.1,
AAP35749.1,
BAH12277.1,
AAH08654.1,
EAW70022.1
Gene_ORFName:
hCG_23762
Ensembl_TRS:
ENST00000646934,
ENST00000647186,
ENST00000543662,
ENST00000645351,
ENST00000406207,
ENST00000646624,
ENST00000646802,
ENST00000642610,
ENST00000642284,
ENST00000635692,
ENST00000644604,
ENST00000634751,
ENST00000645655,
ENST00000634780,
ENST00000645205,
ENST00000647428,
ENST00000651186,
ENST00000644799
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000488933,
ENSP00000496170,
ENSP00000494500,
ENSP00000384571,
ENSP00000489157,
ENSP00000494796,
ENSP00000494575,
ENSP00000489110,
ENSP00000439170,
ENSP00000495961,
ENSP00000495823,
ENSP00000494775,
ENSP00000494319,
ENSP00000495202,
ENSP00000494585,
ENSP00000495693,
ENSP00000495630,
ENSP00000498645
RefSeq:
NP_001274730.1,
NP_001072983.1,
NP_001274731.1,
NP_003184.1
|
| Others |
UniRef100:
UniRef100_A0A2R8Y6Q1,
UniRef100_Q15813
UniRef90:
UniRef90_A0A2R8Y6Q1,
UniRef90_Q15813
UniRef50:
UniRef50_Q15813,
UniRef50_A0A2R8Y6Q1
UniGene:
Hs.744998
CCDS:
CCDS1605.1,
CCDS73052.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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