USH1G (USH1 protein network component sans)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 124590
Gene name USH1 protein network component sans
Gene symbol USH1G
Synonyms (NCBI Gene)
ANKS4ASANS
Chromosome 17
Chromosome location 17q25.1
Summary This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the developm
SNPs SNP information provided by dbSNP.
15
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
SNP ID Visualize variation Clinical significance Consequence
rs142486910 G>C Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs147967199 T>G Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs201866631 C>A,T Pathogenic, uncertain-significance Stop gained, coding sequence variant, missense variant
rs397515345 ACGCTGTCCTCGTCCGAGAG>- Pathogenic Frameshift variant, coding sequence variant
rs397517925 T>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
279
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (279)
miRTarBase ID miRNA Experiments Reference
MIRT621598 hsa-miR-8485 HITS-CLIP 23824327
MIRT611302 hsa-miR-4643 HITS-CLIP 23824327
MIRT611301 hsa-miR-8064 HITS-CLIP 23824327
MIRT621598 hsa-miR-8485 HITS-CLIP 23824327
MIRT611302 hsa-miR-4643 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (39)
GO ID Ontology Definition Evidence Reference
GO:0001917 Component Photoreceptor inner segment IDA 24608321
GO:0001917 Component Photoreceptor inner segment IEA
GO:0005515 Function Protein binding IPI 19028668, 20142502, 24608321, 25502805, 27173435, 28514442, 29997244, 31515488, 31637240, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607696 16356 ENSG00000182040
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q495M9
Protein name pre-mRNA splicing regulator USH1G (Scaffold protein containing ankyrin repeats and SAM domain) (Usher syndrome type-1G protein)
Protein function Plays a role in pre-mRNA splicing by regulating the release and transfer of U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complexes from their assembly site in Cajal bodies to nuclear speckles, thereby contributing to the assembly of
PDB 2L7T , 3K1R , 3PVL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 37 → 126 Ankyrin repeats (3 copies) Repeat
PF00536 SAM_1 388 → 447 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in vestibule of the inner ear, eye and small intestine. {ECO:0000269|PubMed:12588794}.
Sequence 
MNDQYHRAARDGYLELLKEATRKELNAPDEDGMTPTLWAAYHGNLESLRLIVSRGGDPDK
CDIWGNTPLHLAASNGHLHCLSFLVSFGANIWCLDNDYHTPLDMAAMKGHMECVRYLDSI
AAKQSSLNPKLVGKLKDKAFREAERRIRECAKLQRRHHERMERRYRRELAERSDTLSFSS
LTSSTLSRRLQHLALGSHLPYSQATLHGTARGKTKMQKKLERRKQGGEGTFKVSEDGRKS
ARSLSGLQLGSDVMFVRQGTYANPKEWGRAPLRDMFLSDEDSVSRATLAAEPAHSEVSTD
SGHDSLFTRPGLGTMVFRRNYLSSGLHGLGREDGGLDGVGAPRGRLQSSPSLDDDSLGSA
NSLQDRSCGEELPWDELDLGLDEDLEPETSPLETFLASLHMEDFAALLRQEKIDLEALML
CSDLDLRSISVPLGPRKKILGAVRRRRQAMERPPALEDTEL
Sequence length 461
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
149
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Deafness Likely pathogenic; Pathogenic rs1567939793, rs201866631 RCV000679845
RCV000679846
Hearing impairment Likely pathogenic; Pathogenic rs1567939718, rs1567940507 RCV000754557
RCV000754558
Hearing loss, autosomal recessive Likely pathogenic; Pathogenic rs1567939793, rs201866631 RCV001291496
RCV001291495
Rare genetic deafness Likely pathogenic; Pathogenic rs397517925 RCV000041415
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive nonsyndromic hearing loss 18A Uncertain significance rs780717575 RCV004821297
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs139897506 RCV005890249
Non-Syndromic Hereditary Hearing Impairment Uncertain significance rs538983393 RCV001034600
Optic atrophy Conflicting classifications of pathogenicity rs142486910, rs145448362 RCV004815241
RCV004814971
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 34023904
Deaf Blind Disorders Associate 34023904, 38139438
Deafness Associate 33095980
Hearing Loss Associate 12519370, 30872814, 33095980
Inflammation Associate 30872814
Usher syndrome type 1B Associate 16679490, 21203349, 22219650
Usher Syndromes Associate 22219650, 22876113, 25404053, 25575603, 25798947, 27583663, 34023904, 38139438