USH1C

USH1C

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
3K1R, 2KBS, 2LSR, 2KBQ, 2KBR, 1X5N, 5F3X

Identifiers

USH1C, AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst, USH1 protein network component harmonin

External IDs

OMIM: 605242; MGI: 1919338; HomoloGene: 77476; GeneCards: USH1C; OMA:USH1C - orthologs

Gene location (Human)

Chr.	Chromosome 11 (human)

Band	11p15.1	Start	17,493,895 bp
Band	11p15.1	End	17,544,416 bp

Gene location (Mouse)

Chr.	Chromosome 7 (mouse)

Band	7 B3\|7 29.66 cM	Start	45,844,774 bp
Band	7 B3\|7 29.66 cM	End	45,887,927 bp

RNA expression pattern

Human

Mouse (ortholog)

Top expressed in

mucosa of transverse colon

C1 segment

rectum

mucosa of ileum

duodenum

optic nerve

gallbladder

human kidney

jejunal mucosa

pancreatic ductal cell

Top expressed in

utricle

intestinal villus

vestibular sensory epithelium

saccule

crypt of lieberkuhn of small intestine

duodenum

ileum

right kidney

jejunum

colon

More reference expression data


More reference expression data

Gene ontology
Molecular function	spectrin binding actin filament binding protein binding
Cellular component	cytoplasm apical part of cell brush border cytoskeleton cell projection microvillus cytosol photoreceptor outer segment photoreceptor inner segment plasma membrane stereocilium synapse stereocilia ankle link stereocilia ankle link complex photoreceptor connecting cilium stereocilium tip
Biological process	sensory perception of light stimulus hearing G2/M transition of mitotic cell cycle equilibrioception photoreceptor cell maintenance regulation of microvillus length cell differentiation parallel actin filament bundle assembly inner ear morphogenesis inner ear auditory receptor cell differentiation actin filament bundle assembly inner ear receptor cell stereocilium organization protein localization to microvillus brush border assembly retinal cone cell development
Sources:Amigo / QuickGO

Species

Human

Mouse


10083


72088


ENSG00000006611


ENSMUSG00000030838


Q9Y6N9


Q9ES64

RefSeq (mRNA)


NM_001297764 NM_005709 NM_153676


NM_001163733 NM_001291182 NM_023649 NM_153677

RefSeq (protein)


NP_001284693 NP_005700 NP_710142


NP_001157205 NP_001278111 NP_076138 NP_710143

Location (UCSC)

Chr 11: 17.49 – 17.54 Mb

Chr 7: 45.84 – 45.89 Mb

PubMed search

View/Edit Human

View/Edit Mouse

Harmonin is a protein that in humans is encoded by the USH1C gene. It is expressed in sensory cells of the inner ear and retina, where it plays a role in hearing, balance, and vision. Mutations at the USH1C locus cause Usher syndrome type 1c and nonsyndromic sensorineural deafness.