USH1C

GENERAL INFORMATION

? »

Gene name

USH1C

Gene description

Usher syndrome 1C (autosomal recessive, severe)

Protein class

Cancer-related genes
Cytoskeleton related proteins
Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

5
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Group enriched (colon, duodenum, gallbladder, kidney, rectum, small intestine, stomach)
GTEx:Tissue enhanced (colon, kidney, small intestine)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic and membranous expression in a majority of tissues, most abundant in the gastrointestinal tract and renal tubules.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 4 antibodies.
HPA027398 , HPA027492 , HPA028033 , CAB013690
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Group enriched (colon, duodenum, gallbladder, kidney, rectum, small intestine, stomach)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (colon, kidney, small intestine)

Organ

Expression



GENE INFORMATION

? »

Gene name

USH1C (HGNC Symbol)

Synonyms

AIE-75, DFNB18, harmonin, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C

Description

Usher syndrome 1C (autosomal recessive, severe) (HGNC Symbol)

Entrez gene 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]

Chromosome

11

Cytoband

p15.1

Chromosome location (bp)

17493895 - 17544416

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000006611 (version 78.38)

Entrez gene

10083

UniProt

Q9Y6N9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y6N9

Antibodypedia

USH1C antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000005226
 
ENST00000318024
 
ENST00000526181
 
ENST00000527020
 
ENST00000527720
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

USH1C-001 ENSP00000317018
ENST00000318024
Q9Y6N9
Show all »
Show » Show » 552 62.2 No 0
USH1C-003 ENSP00000436934
ENST00000527020
Q9Y6N9
Show all »
Show » Show » 533 60.3 No 0
USH1C-005 ENSP00000432944
ENST00000527720
Q9Y6N9
Show all »
Show » Show » 521 58.3 No 0
USH1C-006 ENSP00000005226
ENST00000005226
Q9Y6N9
Show all »
Show » Show » 899 101.3 No 0
USH1C-008 ENSP00000437128
ENST00000526181
E9PNW1
Show all »
Show » Show » 318 35.3 No 0