| Type | Description |
|---|---|
| Definition | TBC1 domain family member 23 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-25 12:12:00 | rhodanese domain packs against the TBC domain and forms part of the platform to interact with golgin-97/245 | 32453802 |
| 2020-04-11 10:07:00 | Mutation of key residues of TBC1D23 or FAM21 selectively disrupts the endosomal vesicular trafficking toward the Trans-Golgi Network. | 31624125 |
| 2017-12-16 12:24:00 | The Rab GAP domain of TBC1D23 binds to a conserved motif at the tip of golgin-245 and golgin-97 at the trans-Golgi, while the C terminus binds to the WASH complex on endosome-derived vesicles. Thus, TBC1D23 is a specificity determinant that links the vesicle to the target membrane during endosome-to-Golgi trafficking. | 29084197 |
| 2017-10-28 12:07:00 | Homozygous Truncating Variants in TBC1D23 gene are associated with Pontocerebellar Hypoplasia and Alter Cortical Development. | 28823707 |
| 2017-10-28 12:07:00 | Homozygous Mutations in TBC1D23 gene are associated with Non-degenerative Form of Pontocerebellar Hypoplasia. | 28823706 |
| Type | IDs |
|---|---|
| Synonymous | NS4ATP1, PCH11 |
| Gene |
UniProtKB-ID:
TBC23_HUMAN
UniprotKB:
Q9NUY8
UniParc:
UPI000013D5E5,
UPI000045714C
EMBL:
AL713684,
AK001750,
AY740521,
AC078783,
AB449910,
AK001908,
BC020955,
AC093003,
BC010221
Ensembl:
ENSG00000036054
KO:
hsa:55773
|
| Nucleutide sequences |
EMBL-CDS:
AAW66944.1,
AAH20955.1,
BAH16653.1,
CAD28488.1,
BAA91881.1,
AAH10221.1,
BAA91973.1
Ensembl_TRS:
ENST00000394144,
ENST00000344949
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000340693,
ENSP00000377700
RefSeq:
NP_060779.2,
XP_016862330.1,
XP_011511276.1,
NP_001186127.1
|
| Others |
UniRef100:
UniRef100_Q9NUY8
UniRef90:
UniRef90_Q9NUY8
UniRef50:
UniRef50_Q9NUY8
UniGene:
Hs.477003
CCDS:
CCDS2936.1,
CCDS56265.1
|
| {{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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