InnateDB Protein
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IDBP-94952.5
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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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SOBP
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Protein Name
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sine oculis binding protein homolog (Drosophila)
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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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ENSP00000318900
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InnateDB Gene
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IDBG-94950 (SOBP)
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Protein Structure
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Function |
Implicated in development of the cochlea. {ECO:0000250UniProtKB:Q0P5V2}.
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Subcellular Localization |
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Disease Associations |
Mental retardation, anterior maxillary protrusion, and strabismus (MRAMS) [MIM:613671]: A syndrome characterized by severe mental retardation, strabismus and dysmorphic features such as anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Some patients may lack dysmorphic features and manifest temporal lobe epilepsy and psychosis. Esotropia and amblyopia are present in some individuals. {ECO:0000269PubMed:21035105}. 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 5 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[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 |
A7XYQ1
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PhosphoSite |
PhosphoSite-A7XYQ1
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
55084
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UniGene |
Hs.706049
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RefSeq |
NP_060483
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HUGO |
HGNC:29256
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OMIM |
613667
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CCDS |
CCDS43488
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HPRD |
07650
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IMGT |
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EMBL |
AK090879
AL096816
AL121957
AL671934
BC091526
DQ507800
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GenPept |
AAH91526
ABF72848
BAC03537
CAQ08124
CAQ10205
CAQ10380
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