InnateDB Protein
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IDBP-104753.7
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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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GORAB
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Protein Name
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golgin, RAB6-interacting
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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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ENSP00000356736
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InnateDB Gene
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IDBG-104749 (GORAB)
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Protein Structure
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Function |
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Subcellular Localization |
Cytoplasm. Golgi apparatus.
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Disease Associations |
Geroderma osteodysplasticum (GO) [MIM:231070]: A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. {ECO:0000269PubMed:18997784}. 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 16 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
16
[view]
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Protein-Protein |
16
[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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Predicted by orthology |
Total |
2 [view]
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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 |
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PFAM |
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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 |
Q5T7V8
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PhosphoSite |
PhosphoSite-Q5T7V8
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
92344
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UniGene |
Hs.736933
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RefSeq |
NP_001139511
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HUGO |
HGNC:25676
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OMIM |
607983
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CCDS |
CCDS53428
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HPRD |
12144
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IMGT |
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EMBL |
AF143889
AK021814
AL162399
BC047476
BC064945
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GenPept |
AAD32702
AAH47476
AAH64945
BAB13903
CAI15420
CAI15421
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