Gene Gene information from NCBI Gene database.
Entrez ID 83878
Gene name USH1 protein network component harmonin binding protein 1
Gene symbol USHBP1
Synonyms (NCBI Gene)
AIEBPMCC2
Chromosome 19
Chromosome location 19p13.11
miRNA miRNA information provided by mirtarbase database.
28
miRTarBase ID miRNA Experiments Reference
MIRT650172 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT650170 hsa-miR-6814-5p HITS-CLIP 23824327
MIRT650169 hsa-miR-1304-3p HITS-CLIP 23824327
MIRT650167 hsa-miR-4772-3p HITS-CLIP 23824327
MIRT650172 hsa-miR-6890-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 19060904, 25416956, 25910212, 26871637, 32296183
GO:0030165 Function PDZ domain binding IPI 11311560
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611810 24058 ENSG00000130307
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N6Y0
Protein name Harmonin-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)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10506 MCC-bdg_PDZ 299 363 PDZ domain of MCC-2 bdg protein for Usher syndrome Domain
Tissue specificity TISSUE SPECIFICITY: Highest level of expression in heart, and moderate to low expression in skeletal muscle, kidney, liver, small intestine, placenta and lung. {ECO:0000269|PubMed:11311560}.
Sequence
MSARATRPRSRRGRHAPPGELDPVAESSEEVEAASGSSKPSFAPPPVSSGLEQLGPMEEV
SGQGLGSRTDKKMDGGSGRELASAPEVPHKPAVEAHQAPEAALQYKETVPPGNGAPDVFQ
TLQHTLSSLEAAAAAWRHQPPSHSGPMEFEGTSEGGAGSLGKQEGAGSCQREAARLAERN
AWLRLALSSREDELVRTQASLEAIRAEKETLQKEVQELQDSLLRLEPCPHLSHNQAGGSG
SGSSSSEADREPWETQDSFSLAHPLLRRLRSHSSTQILGSLPNQPLSPEMHIMEAQMEQL
RGSIEKLKCFNRLLSAVLQGYKGRCEGLSMQLGQREAEATALHLALQYSEHCEEAYRVLL
ALR
EADSGAGDEAPMSDLQAAEKEAWRLLAQEEAAMDAGAQQNPQPSPEGSSVDKPTPQE
VAFQLRSYVQRLQERRSLMKILSEPGPTLAPMPTVPRAEAMVQAILGTQAGPALPRLEKT
QIQQDLVAAREALADLMLRLQLVRREKRGLELREAALRALGPAHVLLLEQLRWERAELQA
GGANSSGGHSSGGGSSGDEEEWYQGLPAVPGGTSGIDGGQVGRAWDPEKLAQELAASLTR
TLDLQEQLQSLRRELEQVAQKGRARRSQSAELNRDLCKAHSALVLAFRGAHRKQEEQRRK
LEQQMALMEAQQAEEVAVLEATARALGKPRPPLPPPQLGDTFL
Sequence length 703
Interactions View interactions