| Type | Description |
|---|---|
| Definition | trafficking protein particle complex 11 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-27 10:47:00 | TRAPPC11 recruits ATG2B-WIPI4/WDR45 to preautophagosomal membranes. Fibroblasts from a patient with TRAPPC11 mutations failed to recruit ATG2B-WIPI4. | 30843302 |
| 2018-11-03 11:50:00 | Recessive mutations in TRAPPC11 and GOSR2 are associated with congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. | 29855340 |
| 2017-11-26 01:48:00 | The identified novel TRAPPC11 mutation represents an expansion of the myopathy phenotype described before and is characterised particularly by achalasia, alacrima, neurological and muscular phenotypes. | 27707803 |
| 2017-01-28 10:06:00 | TRAPPC11 role in protein glycosylation and lipid-linked oligosaccharides biosynthesis | 26912795 |
| 2013-09-21 11:45:00 | Homozygous mutations in the membrane trafficking component TRAPPC11 causes a form of autosomal-recessive, slowly progressive limb girdle muscular dystrophy with childhood onset and high serum creatine kinase. | 23830518 |
| Type | IDs |
|---|---|
| Synonymous | C4orf41, FOIGR, GRY, LGMD2S, LGMDR18 |
| Gene |
UniProtKB-ID:
TPC11_HUMAN
UniprotKB:
Q7Z392
UniParc:
UPI00017BE76F,
UPI000020B774,
UPI0000231CA0,
UPI0000F705B8
EMBL:
BX538044,
BC051724,
BC139745,
AL833571,
AK026992,
AL136752,
AK022778,
CR533553,
AK023390,
AK315057
Ensembl:
ENSG00000168538
KO:
hsa:60684
|
| Nucleutide sequences |
EMBL-CDS:
BAB15617.1,
AAH51724.1,
CAD91169.1,
CAB66686.1,
BAG37533.1,
BAB14556.1,
CAD97983.1,
AAI39746.1,
BAB14240.1,
CAG38584.1
Ensembl_TRS:
ENST00000357207,
ENST00000334690
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000349738,
ENSP00000335371
RefSeq:
XP_024309949.1,
XP_024309947.1,
NP_951008.1,
XP_024309948.1,
XP_016864026.1,
NP_068761.4,
XP_016864027.1
|
| Others |
UniRef100:
UniRef100_Q7Z392
UniRef90:
UniRef90_Q7Z392
UniRef50:
UniRef50_Q7Z392
UniGene:
Hs.443240
CCDS:
CCDS47166.1,
CCDS34112.1
|
| {{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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