Gene Information
Gene NameUSHBP1
OrganismHomo sapiens (Human)
Gene Length703
Protein NamesHarmonin-binding protein USHBP1 (AIE-75-binding protein) (Mutated in colon cancer protein 2) (MCC-2) (Usher syndrome type-1C protein-binding protein 1) (USH1C-binding protein 1)
Target NameNA
Target TypeNA
Gene Age544 ( ENSG00000130307 )
Evolutionary StageMammalia
AlphaFoldDBQ8N6Y0
Gene CardUSHBP1
Uniprot IDQ8N6Y0
PfamPF10506
In ASDno
Allosteric Predictionno (-1.189692316)
Ortholog in AnimalsDog_ USHBP1 ( ortholog_one2one )
Macaque_ USHBP1 ( ortholog_one2one )
Mouse_ Ushbp1 ( ortholog_one2one )
Pig_ USHBP1 ( ortholog_one2one )
Rat_ Ushbp1 ( ortholog_one2one )
OhnologsNA
ParalogsMCC
TissueNA
Tissue SpecificityHighest level of expression in heart, and moderate to low expression in skeletal muscle, kidney, liver, small intestine, placenta and lung. {ECO:0000269|PubMed:11311560}.
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB NA 
DBSNP rs9676419  rs12459398  rs1043963 
Subcellular location [CC]NA
Mouse PG classificationNA
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