Homo sapiens Protein: SLITRK6
Summary
InnateDB Protein IDBP-228634.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLITRK6
Protein Name SLIT and NTRK-like family, member 6
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000383143
InnateDB Gene IDBG-41532 (SLITRK6)
Protein Structure
UniProt Annotation
Function Regulator of neurite outgrowth required for normal hearing and vision. {ECO:0000269PubMed:23543054}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:23543054, ECO:0000269PubMed:23946138}; Single-pass type I membrane protein {ECO:0000269PubMed:23543054, ECO:0000269PubMed:23946138}.
Disease Associations Deafness and myopia (DFNMYP) [MIM:221200]: An autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia. {ECO:0000269PubMed:23543054, ECO:0000269PubMed:23946138}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity In adult brain, highly expressed in putamen with no expression in cerebral cortex. Expressed in adult and fetal lung and fetal liver. Also expressed at high levels in some brain tumors including medulloblastomas and primitive neuroectodermal tumors. {ECO:0000269PubMed:14557068}.
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
GO:0005515 protein binding
Biological Process
GO:0001964 startle response
GO:0002088 lens development in camera-type eye
GO:0002093 auditory receptor cell morphogenesis
GO:0007409 axonogenesis
GO:0007416 synapse assembly
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0008344 adult locomotory behavior
GO:0021562 vestibulocochlear nerve development
GO:0031223 auditory behavior
GO:0035264 multicellular organism growth
GO:0042472 inner ear morphogenesis
GO:0043010 camera-type eye development
GO:0048812 neuron projection morphogenesis
GO:0060005 vestibular reflex
GO:0060007 linear vestibuloocular reflex
GO:0060384 innervation
GO:0090102 cochlea development
Cellular Component
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0071944 cell periphery
Protein Structure and Domains
PDB ID
InterPro IPR000483 Cysteine-rich flanking region, C-terminal
IPR001611 Leucine-rich repeat
IPR003591 Leucine-rich repeat, typical subtype
PFAM PF01463
PF00560
PF13504
PF13855
PRINTS
PIRSF
SMART SM00082
SM00369
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H5Y7
PhosphoSite PhosphoSite-Q9H5Y7
TrEMBL
UniProt Splice Variant
Entrez Gene 84189
UniGene Hs.525105
RefSeq NP_115605
HUGO HGNC:23503
OMIM 609681
CCDS CCDS41903
HPRD 15403
IMGT
EMBL AK021931 AK026427 AK292793 AL137517 AL162373 BC101070 BC101071 BC101072 BC101073 BX648640 CH471093
GenPept AAI01071 AAI01072 AAI01073 AAI01074 BAB13941 BAB15480 BAF85482 CAB70783 CAH10557 EAW80611