Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| USH1C | 10083 | Usher syndrome 1C (autosomal recessive, severe)  | 11 | PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38  |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 15219944    | 2004 | Cell line : SW 480 Source : - Sample Type : - No. of Sample : - Stage : - | AIE-75 transfection and cell cloning, RT-PCR assay for AIE-75 expression, Cell growth count | Unknown | - | Expression of AIE-75 causes G2/M cell cycle arrest and subsequent mitotic slippage. AIE-75 interacts with PP2AC and prevent cells to transit mitotic phase. |
| 20089989    | 2010 | Cell line : - Source : VU University Medical Center, Amsterdam, The Netherlands. Sample Type : CRC tumor and normal tissue No. of Sample : - Stage : TNM Stage II | Biochemical isolation to nano-LC-MS/MS analysis | Unknown | - | - |
Gene Details

| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]   |
| Chromosome | 11 |
| Location | 11p14.3 |
| Start | 17493895   |
| End | 17544416   |
| Strand | -   |
| Gene Sequence |    Download   Select all |
| Length | 50522   |
| OMIM ID | 605242    |
| HGNC ID | HGNC:12597    |
| Unigene ID | Hs.502072     |
| Ensembl ID | ENSG00000006611    |
| PharmGKB ID | -    |
mRNA Information
| mRNA ID | NM_001297764.1 |
|---|---|
| Exon | join(1..145,11095..11162,12875..13018,13125..13263, 17086..17194,17377..17401,17607..17664,17976..18070, 19882..19966,20939..20998,21491..21633,23006..23071, 23423..23547,26943..27016,42437..42478,42882..42935, 43267..43366,46146..46255,47604..47659,50041..50522)   | mRNA Sequence |    Download   Select all |
| Length | 2180   |
CDS Information
| Location | join(110..145,11095..11162,12875..13018,13125..13263, 17086..17194,17377..17401,17607..17664,17976..18070, 19882..19966,20939..20998,21150..21206,21491..21633, 23006..23071,23423..23547,28127..28176,32363..32515, 33896..34012,34579..35061,38468..38587,39720..39770, 42437..42478,42882..42935,43267..43366,46146..46255, 47604..47659,48740..48848,50041..50085) |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | CCDS7825.1 |    
Protein Information
| Protein ID | NP_001284693.1 |
|---|---|
| Protein Name | Usher syndrome 1C (autosomal recessive, severe) |
| Molecular Wt. (Da) | 60198 |
| Protein Sequence |    Download   Select all |
| Length | 533   |
| Uniprot ID | P54760 |    
| Ensembl Protein ID | ENSP00000350896   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 283 |
| S | Phosphorylation | 283 |
| T | Phosphorylation | 285 |
| T | Phosphorylation | 285 |
| S | Phosphorylation | 287 |
| S | Phosphorylation | 287 |
| S | Phosphorylation | 327 |
| S | Phosphorylation | 327 |
| S | Phosphorylation | 432 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING)      View   
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 4647 |    MYO7A |    2043 |    NP_000251.3 |    in vitro;in vivo |    1   248   599   012   588   790    |
| 64072 |    CDH23 |    5699 |    NP_071407.4 |    in vitro;in vivo;yeast 2-hybrid |    124   071   801   258   879   000   000   000    |
Pathway Information
No matching records could be found.
Structure Information
| PDB ID | 1X5N |
|---|---|
| Resolution | - |
| Method | solution NMR |
| Chains | A   |
| Molecule | Harmonin   |
| Model | View |
Domain Information
| ID | Location | Description |
|---|---|---|
| cd07353 | Feb-80  | harmonin_N |
| cl11968 | Feb-80  | harmonin_N_like superfamily |
| cd00992 | 85-165  | PDZ_signaling |
| cl00117 | 85-165  | PDZ superfamily |
| cd00992 | 209-289  | PDZ_signaling |
| cl00117 | 209-289  | PDZ superfamily |
| cd00992 | 451-538  | PDZ_signaling |
| cl00117 | 451-538  | PDZ superfamily |
| cd07347 | Feb-80  | harmonin_N_like |
| smart00228 | 84-166  | PDZ |
| smart00228 | 218-289  | PDZ |
| pfam00595 | 87-165  | PDZ |
| pfam00595 | 211-283  | PDZ |
| cd00136 | 97-165  | PDZ |
| cd00136 | 220-289  | PDZ |
| smart00228 | 451-537  | PDZ |
| cd00136 | 472-528  | PDZ |
| cd00988 | 105-166  | PDZ_CTP_protease |
| cd13933 | 16-79  | harmonin_N_like_u1 |
| cd00988 | 221-303  | PDZ_CTP_protease |
| cd07356 | Jul-78  | HN_L-whirlin_R1_like |
| cd00987 | 463-537  | PDZ_serine_protease |
| cd00989 | 114-164  | PDZ_metalloprotease |
| cd00987 | 235-299  | PDZ_serine_protease |
| pfam13180 | 97-166  | PDZ_2 |
| pfam00595 | 460-525  | PDZ |
| cd07354 | Mar-77  | HN_L-delphilin-R1_like |
| cd00991 | 111-166  | PDZ_archaeal_metalloprotease |
| cd00988 | 477-550  | PDZ_CTP_protease |
| cd00989 | 228-289  | PDZ_metalloprotease |
| cd13932 | 29-77  | HN_RTEL1 |
| cd00987 | 98-165  | PDZ_serine_protease |
| cd00989 | 475-514  | PDZ_metalloprotease |
| pfam13180 | 221-271  | PDZ_2 |
| cd00991 | 234-288  | PDZ_archaeal_metalloprotease |
| cd00990 | 472-507  | PDZ_glycyl_aminopeptidase |
| pfam13180 | 479-512  | PDZ_2 |
| TIGR02037 | 96-289  | degP_htrA_DO |
| TIGR00225 | 96-164  | prc |
| PRK10942 | 111-282  | PRK10942 |
| COG0793 | 96-165  | CtpA |
| COG0793 | 221-299  | CtpA |
| TIGR03279 | 238-294  | cyano_FeS_chp |
| TIGR02794 | 302-383  | tolA_full |
| pfam00769 | 294-435  | ERM |
| COG0793 | 437-522  | CtpA |
| PLN00049 | 464-523  | PLN00049 |
| PRK09510 | 301-353  | tolA |
| PRK14474 | 306-377  | PRK14474 |
| COG0265 | 226-299  | DegQ |
| pfam13868 | 298-358  | Trichoplein |
| pfam05672 | 302-357  | MAP7 |
| COG3975 | 235-277  | COG3975 |
| COG3064 | 300-358  | TolA |
Ontology Information
| HPRD ID | 587 |    
|---|---|
| Molecular Class | Unclassified |
| Molecular Function | Receptor activity (GO:0004872) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165)   |
Drug Information
No matching records could be found.
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
