InnateDB Protein
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IDBP-46085.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TRAPPC11
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Protein Name
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chromosome 4 open reading frame 41
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000349738
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InnateDB Gene
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IDBG-46081 (TRAPPC11)
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Protein Structure
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Function |
Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage. {ECO:0000269PubMed:21525244}.
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Subcellular Localization |
Golgi apparatus, cis-Golgi network {ECO:0000250}.
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Disease Associations |
Limb-girdle muscular dystrophy 2S (LGMD2S) [MIM:615356]: A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay. {ECO:0000269PubMed:23830518}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
20
[view]
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Protein-Protein |
20
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR012880
Domain of unknown function DUF1683, C-terminal
IPR021773
Foie gras liver health family 1
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PFAM |
PF07919
PF11817
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q7Z392
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PhosphoSite |
PhosphoSite-Q7Z392
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
60684
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UniGene |
Hs.739142
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RefSeq |
NP_951008
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HUGO |
HGNC:25751
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OMIM |
614138
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CCDS |
CCDS47166
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HPRD |
10968
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IMGT |
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EMBL |
AK022778
AK023390
AK026992
AK315057
AL136752
AL833571
BC051724
BC139745
BX538044
CR533553
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GenPept |
AAH51724
AAI39746
BAB14240
BAB14556
BAB15617
BAG37533
CAB66686
CAD91169
CAD97983
CAG38584
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