SHIELD | Shared Harvard Inner-Ear Laboratory Database

MOUSE GENE INFORMATION [PubMed]

Description

Usher syndrome 1C

Synonyms

harmonin; 2010016F01Rik

Chromosome

Genetic Map Distance

29.66 cM

RefSeq Accessions

NM_001163733; NM_023649; NM_153677; NP_001157205; NP_076138; NP_710143

NCBI Entrez Gene

72088 at chr7:53450721-53493860 (mm9) / chr7:46195350-46238490 (mm10)

Ensembl Gene

ENSMUSG00000030838

VEGA Gene

OTTMUSG00000025998

MGI Gene

MGI:1919338

Mouse Protein (3)

UniProt ID	Description	Length (AA)
Q9ES64	Harmonin	910
D6RIM8	Uncharacterized protein	859
Q6XA19	Harmonin isoform b4	891

Pfam Domains

PDZ; PDZ; Pfam-B_3163; Pfam-B_2472; PDZ

Mouse alleles (9)

Allele Name	Allele Type
Ush1c^{tm1a(KOMP)Wtsi}	KOMP-CSD-Project
Ush1c^{tm1e(KOMP)Wtsi}	KOMP-CSD-Project
Ush1c^dfcr-2J	Spontaneous
Ush1c^dfcr-3J	Spontaneous
Ush1c^dfcr	Spontaneous
Ush1c^tm1.1Mull	Targeted (knock-in)
Ush1c^tm1.1Ugds	Targeted (knock-out)
Ush1c^tm1Bkts	Targeted (knock-in)
Ush1c^tm1Xzl	Targeted (knock-out)

Human Homolog

USH1C (Usher syndrome 1C (autosomal recessive, severe))

Human synonyms

AIE-75; DFNB18; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst

Human cytoband

11p14.3

Known deafness gene

DFNB18/USH1C

Within mapped deafness loci

Associated Human Disease in OMIM

Usher Syndrome, Type Ic; USH1C [Usher Syndrome, Type I, Acadian Variety]

Deafness, Autosomal Recessive 18; DFNB18

Chicken homolog (2)

ENSGALG00000006192 (USH1C) encoding ENSGALP00000009976

ENSGALG00000006192 (USH1C) encoding ENSGALP00000038711

Gene Ontology

Biological Process (11)	G2/M transition of mitotic cell cycle; photoreceptor cell maintenance; sensory perception of light stimulus; equilibrioception; auditory receptor cell differentiation; inner ear morphogenesis; parallel actin filament bundle assembly; actin filament bundle assembly; neuromuscular process controlling balance; sensory perception of sound; sensory perception of sound
Cellular Component (11)	cytoplasm; plasma membrane; apical part of cell; stereocilium; stereocilium; photoreceptor inner segment; photoreceptor inner segment; photoreceptor outer segment; photoreceptor outer segment; synapse; synapse
Molecular Function (4)	protein binding; protein binding; protein binding; protein binding

FACS-Sorted Hair Cells

Data | Chart

	E16a	E16b	P0	P4	P7	P16
Utricle GFP+ cells	156	146	185	423	545	705
Cochlea GFP+ cells	77	24	55	131	347	NA
Utricle GFP- cells	63	42	49	137	348	15
Cochlea GFP- cells	29	0	4	30	144	NA

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
GFP-	78	GFP+	254	3.23	0.485
Utricle	235	Cochlea	84	0.36	0.946
Embryonic	67	Postnatal	223	3.30	0.224

Adult Cochlear Inner and Outer Hair Cells

Probeset ID	IHC (mean ± sd)	OHC (mean ± sd) [OHC replicate]	Fold Change (OHC/IHC)	False Discovery Rate (FDR)
17491115	179.88 ± 1.12	157.87 ± 17.91 [165.24]	0.88	0.547

Otic Progenitor Cells

Data

Growth Factor	Replicate 1	Replicate 2	Replicate 3	Mean
bFGF	1	1	1	1
No bFGF	0	0	1	0
EGF	0	0	0	0

Analysis

Condition A	Mean A	Condition B	Fold Change (B/A)	False Discovery Rate (FDR)
bFGF	1	No bFGF	0.50	1
bFGF	1	EGF	0.27	0.432
No bFGF	0	EGF	0.53	1

Chicken Stereocilium Proteomics

Protein ID	ENSGALP00000009976
Symbol	USH1C
Description	Harmonin (Usher syndrome 1C)
log10 riBAQ in stereocilia (mean ± sd)	-4.40 ± 0.32
log10 riBAQ in utricle (mean ± sd)	-5.73 ± 0.08
Molecules per stereocilium (mean ± error with slope error)	59.26 ± 4.73
Corrected Molecules per stereocilium (mean ± sd)	60.44 ± 5.41
Stereocilium / Utricle ratio (mean ± sd)	21.52 ± 1.86
Enriched in the stereocilia (FDR < 0.05)	NA

Auditory and Vestibular Ganglion Neurons

Probe set ID: 1450001_a_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	1	12.75	12.69	19.94	34	6.16
Replicate 1 Call	A	A	A	A	A	A
Replicate 2	1	1	13.14	3.58	126.48	5.7
Replicate 2 Call	A	A	A	A	A	A
Replicate 3	1	2	9.75	1	7.51	11
Replicate 3 Call	A	A	A	A	A	A
Replicate 4			18.52	1.64	3.05	28.51
Replicate 4 Call			A	A	A	A
Mean	1	5.25	13.53	6.54	42.76	12.84
Standard Deviation	0	6.51	3.65	9	57.46	10.72
Log2 Mean	0	1.56	3.72	1.72	4.15	3.36
Log2 Standard Deviation	0	1.9	0.38	1.89	2.37	1.07

Vestibular ganglion
Replicate 1	2.53	1	7.64	4.29	1	126.27
Replicate 1 Call	A	A	A	A	A	A
Replicate 2	3.41	1	1	5.35	74.46	29.79
Replicate 2 Call	A	A	A	A	A	A
Replicate 3	1	4.46	1	1	4.46	20.69
Replicate 3 Call	A	A	A	A	A	A
Mean	2.31	2.15	3.21	3.55	26.64	58.92
Standard Deviation	1.22	2	3.83	2.27	41.45	58.51
Log2 Mean	1.04	0.72	0.98	1.51	2.79	5.42
Log2 Standard Deviation	0.92	1.25	1.69	1.31	3.16	1.38

GENE VIEW

Ush1c