Homo sapiens Protein: GORAB
Summary
InnateDB Protein IDBP-104753.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GORAB
Protein Name golgin, RAB6-interacting
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000356736
InnateDB Gene IDBG-104749 (GORAB)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Cytoplasm. Golgi apparatus.
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.
Tissue Specificity
Comments
Interactions
Number of Interactions 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]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
Cellular Component
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q5T7V8
PhosphoSite PhosphoSite-Q5T7V8
TrEMBL
UniProt Splice Variant
Entrez Gene 92344
UniGene Hs.736933
RefSeq NP_001139511
HUGO HGNC:25676
OMIM 607983
CCDS CCDS53428
HPRD 12144
IMGT
EMBL AF143889 AK021814 AL162399 BC047476 BC064945
GenPept AAD32702 AAH47476 AAH64945 BAB13903 CAI15420 CAI15421