Homo sapiens Protein: KIAA0513
Summary
InnateDB Protein IDBP-750196.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KIAA0513
Protein Name
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000457408
InnateDB Gene IDBG-44996 (KIAA0513)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Cytoplasm {ECO:0000305PubMed:17010949}.
Disease Associations
Tissue Specificity Widely expressed, highest levels in cerebellum, brain cortex, hippocampus, pons, putamen and amygdala. Highly expressed in neurons, but also present in glial cells. Slightly higher expression in the dorsolateral prefrontal cortex of schizophrenic patients compared to control individuals. {ECO:0000269PubMed:17010949}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR022096 Myotubularin protein
PFAM PF12335
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O60268
PhosphoSite PhosphoSite-O60268
TrEMBL
UniProt Splice Variant
Entrez Gene 9764
UniGene Hs.301658
RefSeq NP_001273494
HUGO HGNC:29058
OMIM 611675
CCDS CCDS32499
HPRD 17192
IMGT
EMBL AB011085 AC026469 AC092341 AK299892 BC030280 CH471114
GenPept AAH30280 BAA25439 BAG61737 EAW95460 EAW95462