Gene
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.
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.
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.
MIM HGNC e!Ensembl
611810 24058 ENSG00000130307
Protein
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
ALR
EADSGAGDEAPMSDLQAAEKEAWRLLAQEEAAMDAGAQQNPQPSPEGSSVDKPTPQE
VAFQLRSYVQRLQERRSLMKILSEPGPTLAPMPTVPRAEAMVQAILGTQAGPALPRLEKT
QIQQDLVAAREALADLMLRLQLVRREKRGLELREAALRALGPAHVLLLEQLRWERAELQA
GGANSSGGHSSGGGSSGDEEEWYQGLPAVPGGTSGIDGGQVGRAWDPEKLAQELAASLTR
TLDLQEQLQSLRRELEQVAQKGRARRSQSAELNRDLCKAHSALVLAFRGAHRKQEEQRRK
LEQQMALMEAQQAEEVAVLEATARALGKPRPPLPPPQLGDTFL
Sequence length 703
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
23535733, 20852631, 22976474
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
23544013, 22976474, 27197191, 27117709, 23535733, 20852631
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 27197191
Colorectal cancer Colorectal Carcinoma, Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
27197191
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 32644941
Neoplasms Associate 34437390
Schizophrenia Associate 23805179