H-Inv ID |
HIT000063502 |
H-Inv cluster ID |
HIX0009478
|
H-Inv protein ID |
HIP000042503
|
Accession number |
AF039699.1
|
CAGE tag ID |
NA
|
EST ID |
NA
|
Genomic location
|
Chromosome |
11 |
Location |
11p15.1
|
Position |
17515442-
17565949
|
Strand |
-
|
Transcript feature
|
NO;
Splicing isoform
|
Coding potential
|
Protein coding;
|
Definition |
Similar to Harmonin; Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; Usher syndrome type-1C protein; |
Similarity category
|
Category: Similar to known protein(Category II).
|
Similar to known protein (Q9Y6N9)
[Identity/coverage = 99.241%/100.0%] to
Homo sapiens (Human). protein.
|
Gene family / group |
NA
|
Gene symbol/name |
HGNC symbol |
USH1C
|
HGNC aliases |
"deafness, autosomal recessive 18"
|
HGNC name |
Usher syndrome 1C (autosomal recessive, severe)
|
DDBJ |
NY-CO-38
|
UniProt |
USH1C
|
EC number |
NA
|
KEGG metabolic pathway |
NA
|
PubMed ID |
9610721;
10500064;
10508479;
10973247;
11311560;
12107438;
12588794;
14702039;
14759258;
15489334;
16301216;
16554811;
19297620;
20142502;
21709241;
ALL;
|
Related H-InvDB links |
Similarity Search Tool
|
Database links |
RefSeq |
NA
|
Ensembl |
NA
|
Entrez Gene |
Entrez Gene ID:10083;
|
KEGG GENES |
KEGG GENES(10083);
|
GeneCard |
USH1C;
*GeneCards is provided free to academic non-profit institutions.
|
etc |
Human-Gene diversity Of Life-style related Diseases;
|
Curation status |
Auto-annotated
|
Notes |
NA
|