InnateDB Protein
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IDBP-72196.7
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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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VPS13A
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Protein Name
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vacuolar protein sorting 13 homolog A (S. cerevisiae)
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Synonyms
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CHAC; CHOREIN;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000365821
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InnateDB Gene
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IDBG-72184 (VPS13A)
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Protein Structure
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Function |
May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.
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Subcellular Localization |
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Disease Associations |
Choreoacanthocytosis (CHAC) [MIM:200150]: An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. {ECO:0000269PubMed:11381253, ECO:0000269PubMed:12404112}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.
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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 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[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 |
IPR009543
Vacuolar protein sorting-associated protein 13 domain
IPR015412
Autophagy-related, C-terminal
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PFAM |
PF06650
PF09333
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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 |
Q96RL7
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PhosphoSite |
PhosphoSite-Q96RL7
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
23230
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UniGene |
Hs.731962
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RefSeq |
NP_001018048
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HUGO |
HGNC:1908
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OMIM |
605978
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CCDS |
CCDS47983
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HPRD |
05814
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IMGT |
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EMBL |
AB023203
AB054005
AF337532
AJ608769
AJ626859
AK022967
AL158159
AL353710
AL359204
BC020576
BC041852
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GenPept |
AAH20576
AAH41852
AAK61861
BAA76830
BAB14337
BAB59128
CAE75581
CAF25186
CAH74105
CAH74106
CAI39537
CAI39538
CAI40935
CAI40936
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