gene

USH1C

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about USH1C: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

5Connections

0Hypotheses

0Analyses

2Outgoing

3Incoming

0Experiments

0Debates

Summary

Comprehensive information about USH1C, encoding harmonin, a PDZ domain scaffold protein essential for hair cell function and sensory signaling. USH1C mutations cause Usher syndrome type 1C.

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🧬 Gene Info

Gene Symbol	USH1C
Full Name	Usher Syndrome 1C Protein (Harmonin)
Chromosome	11p15.4
Function	The stereocilia are actin-filled protrusions that detect sound vibrations and head movements.
Primary Expression	the inner ear - Isoform B: Shorter isoform missing some PDZ domains, expressed in retina and brain - Isoform C: Alternatively spliced variant
Molecular Weight	72 kDa
Amino Acids	899 aa
Exons	14
UniProt ID	Q9Y286
NCBI Gene ID	10083
Ensembl ID	ENSG00000106638
OMIM	605242
GeneCards	USH1C
Human Protein Atlas	USH1C
Associated Diseases	Usher Syndrome Type 1C
KG Connections	5 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: USH1C — AlphaFold Q9Y286 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

USH1C Gene

gene · 2382 words

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Pathway Diagram

graph TD
    USH1C["USH1C"]
    Diabetes{"Diabetes"}
    USH1C -->|"regulates"| Diabetes
    Als{"Als"}
    USH1C -->|"regulates"| Als
    neurodegeneration["neurodegeneration"]
    USH1C -->|"implicated in"| neurodegeneration
    ABCD3["ABCD3"]
    ABCD3 -->|"regulates"| USH1C
    HNF4A["HNF4A"]
    HNF4A -->|"regulates"| USH1C
    GAD2["GAD2"]
    GAD2 -->|"regulates"| USH1C
    style USH1C fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0

Outgoing (2)

Target	Relation	Type	Str
Diabetes	regulates	disease	0.65
Als	regulates	disease	0.65

Incoming (3)

Source	Relation	Type	Str
ABCD3	regulates	gene	0.60
HNF4A	regulates	gene	0.60
GAD2	regulates	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning USH1C in their description or question text

No additional research found