USHBP1 (USH1 protein network component harmonin binding protein 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83878
Gene name Gene Name - the full gene name approved by the HGNC.
USH1 protein network component harmonin binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
USHBP1
Synonyms (NCBI Gene) Gene synonyms aliases
AIEBP, MCC2
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611810 24058 ENSG00000130307
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
ALREADSGAGDEAPMSDLQAAEKEAWRLLAQEEAAMDAGAQQNPQPSPEGSSVDKPTPQE
VAFQLRSYVQRLQERRSLMKILSEPGPTLAPMPTVPRAEAMVQAILGTQAGPALPRLEKT
QIQQDLVAAREALADLMLRLQLVRREKRGLELREAALRALGPAHVLLLEQLRWERAELQA
GGANSSGGHSSGGGSSGDEEEWYQGLPAVPGGTSGIDGGQVGRAWDPEKLAQELAASLTR
TLDLQEQLQSLRRELEQVAQKGRARRSQSAELNRDLCKAHSALVLAFRGAHRKQEEQRRK
LEQQMALMEAQQAEEVAVLEATARALGKPRPPLPPPQLGDTFL
Sequence length 703
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast cancer Breast Cancer in BRCA1 mutation carriers, Breast cancer (estrogen-receptor negative), Breast cancer N/A N/A GWAS
Ovarian cancer Epithelial ovarian cancer N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 32644941
Neoplasms Associate 34437390
Schizophrenia Associate 23805179