USH1C - USH1 protein network component harmonin Gene
Also Known as PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38
Species: Homo sapiens
About USH1C
This gene has 11 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 6 phenotypes. Biased expression in small intestine (RPKM 13.7), duodenum (RPKM 13.0) and 6 other tissues.
Summary
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]
USH1C Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001297764.2 | NP_001284693.1 | harmonin isoform c |
| NM_005709.4 | NP_005700.2 | harmonin isoform a |
| NM_153676.4 | NP_710142.1 | harmonin isoform b3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11311560 | GOA |
| enables spectrin binding |
IDA
IDA: Inferred from direct assay
|
23704327 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in G2/M transition of mitotic cell cycle |
IMP
IMP: Inferred from mutant phenotype
|
15219944 | GOA |
| involved in brush border assembly |
IDA
IDA: Inferred from direct assay
|
32209652 | GOA |
| involved in brush border assembly |
IMP
IMP: Inferred from mutant phenotype
|
24725409 | GOA |
| involved in equilibrioception |
IMP
IMP: Inferred from mutant phenotype
|
10973247 | GOA |
| involved in photoreceptor cell maintenance |
IMP
IMP: Inferred from mutant phenotype
|
11398101 | GOA |
| involved in protein localization to microvillus |
IMP
IMP: Inferred from mutant phenotype
|
24725409 | GOA |
| involved in protein-containing complex assembly |
IDA
IDA: Inferred from direct assay
|
26812018 | GOA |
| involved in sensory perception of light stimulus |
IMP
IMP: Inferred from mutant phenotype
|
11398101 | GOA |
| involved in sensory perception of sound |
IMP
IMP: Inferred from mutant phenotype
|
11398101 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in apical part of cell |
IDA
IDA: Inferred from direct assay
|
10209257 | GOA |
| located in brush border |
IDA
IDA: Inferred from direct assay
|
21330445 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
10209257 | GOA |
| located in microvillus |
IDA
IDA: Inferred from direct assay
|
24725409 | GOA |
USH1C Protein Structure
PDZ: PDZ domain (Also known as DHR or GLGF) (89 - 164)
PDZ: PDZ domain (Also known as DHR or GLGF) (218 - 287)
PDZ: PDZ domain (Also known as DHR or GLGF) (458 - 525)
- 0
- 100
- 200
- 300
- 400
- 500
- 552 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
harmonin |
|
USH1C Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
USH1C | Q9Y6N9 | MIPOL1 | Homo sapiens | Q8TD10 | 25416956 | |
|
Intra
|
USH1C | Q9Y6N9 | MIPOL1 | Homo sapiens | Q8TD10 | 25416956 | |
|
Intra
|
USH1C | Q9Y6N9 | RAC1 | Homo sapiens | P63000 | 25416956 | |
|
Intra
|
USH1C | Q9Y6N9 | RAC1 | Homo sapiens | P63000 | 25416956 | |
|
Intra
|
USH1C | Q9Y6N9 | RAC1 | Homo sapiens | P63000 | 25416956 | |
|
Intra
|
USH1C | Q9Y6N9 | CTNNAL1 | Homo sapiens | Q9UBT7 | 25416956 | |
|
Intra
|
USH1C | Q9Y6N9 | CTNNAL1 | Homo sapiens | Q9UBT7 | 25416956 | |
|
Intra
|
USH1C | Q9Y6N9 | USH1G | Homo sapiens | Q495M9 | 20142502 | |
|
Intra
|
USH1C | Q9Y6N9 | USH1G | Homo sapiens | Q495M9 | 20142502 | |
|
Intra
|
USH1C | Q9Y6N9 | USH1G | Homo sapiens | Q495M9 | 31515488 | |
|
Intra
|
USH1C | Q9Y6N9 | USH1G | Homo sapiens | Q495M9 | 20142502 | |
|
Intra
|
USH1C | Q9Y6N9 | USH1G | Homo sapiens | Q495M9 | 25502805 | |
|
Intra
|
USH1C | Q9Y6N9 | USH1G | Homo sapiens | Q495M9 | 20142502 | |
|
Intra
|
USH1C | Q9Y6N9 | USH1G | Homo sapiens | Q495M9 | 12588794 |
Recombinant USH1C Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71659 | USH1C Protein, Human (His-SUMO) | Q9Y6N9-4(M1-F533) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P76966 | USH1C Protein, Human (His) | Q9Y6N9 (M1-F552) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Usher Syndrome, Type Ic |
|
|
| Deafness, Autosomal Recessive 18a |
|
|
| Usher Syndrome, Type I |
|
|
| Usher Syndrome |
|
|
| Usher Syndrome Type 2 |
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
|
| Fundus Dystrophy |
|
|
| Rare Genetic Deafness |
|
|
| Retinitis Pigmentosa |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Autoimmune Enteropathy |
|
|
| Deafness, Autosomal Recessive |
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
|
| Retinal Degeneration |
|
|
| Usher Syndrome, Type Iiia |
|
|
| Deafness, Autosomal Dominant 11 |
|
|
| Deafness, Autosomal Recessive 23 |
|
|
| Deafness, Autosomal Dominant 59 |
|
|
| Deafness, Autosomal Recessive 2 |
|
|
| Usher Syndrome, Type Ig |
|
|
| Deafness, Autosomal Recessive 57 |
|
|
| Usher Syndrome, Type Iid |
|
|
| Deafness, Autosomal Recessive 12 |
|
|
| Deafness, Autosomal Recessive 7 |
|
|
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
|
| Deafness, Autosomal Dominant 25 |
|
|
| Deafness, Autosomal Recessive 15 |
|
|
| Y-Linked Deafness |
|
|
| Deafness, Autosomal Recessive 17 |
|
|
| Autosomal Recessive Nonsyndromic Deafness 36 |
|
|
| Usher Syndrome, Type If |
|
|
| Deafness, Autosomal Dominant 9 |
|
|
| Usher Syndrome, Type Iia |
|
|
| Usher Syndrome, Type Id |
|
|
| Deafness, Autosomal Recessive 6 |
|
|
| Deafness, Autosomal Dominant 36 |
|
|
| Auditory System Disease |
|
|
| Deafness, Autosomal Recessive 25 |
|
|
| Bardet-Biedl Syndrome |
|
|
| Deafness, Autosomal Recessive 16 |
|
|
| Deafness, Autosomal Dominant 65 |
|
|
| Sensorineural Hearing Loss |
|
|
| Deafness, Autosomal Recessive 86 |
|
|
| Hyperinsulinism |
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
|
| Usher Syndrome, Type Iic |
|
|
| Inner Ear Disease |
|
|
| Pendred Syndrome |
|
|
| Pallister-Hall Syndrome |
|
|
| Eye Degenerative Disease |
|
|
| Late-Onset Retinal Degeneration |
|
|
| Stickler Syndrome |
|
|
| Leber Plus Disease |
|
|
| Eye Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | USH1C | VGNC | VGNC:66860 |
| Bos taurus | USH1C | VGNC | VGNC:36704 |
| Canis familiaris | USH1C | VGNC | VGNC:48172 |
| Rattus norvegicus | USH1C | RGD | RGD:1303329 |
| Macaca mulatta | USH1C | VGNC | VGNC:78732 |
| Mus musculus | USH1C | MGD | MGI:1919338 |
| Others | USH1C | NCBI |