USH1G - USH1 protein network component sans Gene

Homo sapiens

Also known as SANS; ANKS4A

Gene ID: 124590 | Gene type: protein coding

About USH1G

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:74,916,083-74,923,255 (from NCBI)

This gene has 2 transcripts (splice variants), 261 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in esophagus (RPKM 1.1), skin (RPKM 0.6) and 6 other tissues.

Summary

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

USH1G Products(2)

mRNA	Protein	Name
NM_001282489.3	NP_001269418.1	pre-mRNA splicing regulator USH1G isoform 2
NM_173477.5	NP_775748.2	pre-mRNA splicing regulator USH1G isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	20142502	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19028668	GOA
enables spectrin binding	IDA IDA: Inferred from direct assay	23704327	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in equilibrioception	IMP IMP: Inferred from mutant phenotype	12588794	GOA
involved in photoreceptor cell maintenance	IMP IMP: Inferred from mutant phenotype	11398101	GOA
involved in regulation of clathrin-dependent endocytosis	IMP IMP: Inferred from mutant phenotype	24608321	GOA
involved in sensory perception of light stimulus	IMP IMP: Inferred from mutant phenotype	11398101	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	11398101	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Cajal body	IDA IDA: Inferred from direct assay	34023904	GOA
located in ciliary base	IDA IDA: Inferred from direct assay	24608321	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	34023904	GOA
located in photoreceptor cell cilium	IDA IDA: Inferred from direct assay	31637240	GOA
located in photoreceptor inner segment	IDA IDA: Inferred from direct assay	24608321	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

USH1G Protein Structure

Ank_2

SAM_1

0
100
200
300
400
461 a.a.

Protein Preferred Names

Protein Names

pre-mRNA splicing regulator USH1G

Usher syndrome type-1G protein

Usher syndrome 1G (autosomal recessive)

USH1G Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	USH1G	Q495M9	CARD9	Homo sapiens	Q9H257-2	Validated Y2H	32296183
Intra	USH1G	Q495M9	TCEANC	Homo sapiens	Q8N8B7-2	Validated Y2H	32296183
Intra	USH1G	Q495M9	KIFC3	Homo sapiens	Q9BVG8-5	Validated Y2H	32296183
Intra	USH1G	Q495M9	PRPF31	Homo sapiens	Q8WWY3	Validated Y2H	32296183
Intra	USH1G	Q495M9	ANKRD11	Homo sapiens	X5D778	Validated Y2H	32296183
Intra	USH1G	Q495M9	q9y649_human	Homo sapiens	Q9Y649	Validated Y2H	32814053
Intra	USH1G	Q495M9	q9y649_human	Homo sapiens	Q9Y649	Y2H Array	32814053
Intra	USH1G	Q495M9	q9y649_human	Homo sapiens	Q9Y649	Y2H Pooling	32814053
Intra	USH1G	Q495M9	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	USH1G	Q495M9	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	USH1G	Q495M9	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	USH1G	Q495M9	HRAS	Homo sapiens	P01112	Validated Y2H	32814053
Intra	USH1G	Q495M9	HRAS	Homo sapiens	P01112	Y2H Array	32814053
Intra	USH1G	Q495M9	HRAS	Homo sapiens	P01112	Y2H Pooling	32814053
Intra	USH1G	Q495M9	HTRA2	Homo sapiens	O43464	Validated Y2H	32814053
Intra	USH1G	Q495M9	HTRA2	Homo sapiens	O43464	Y2H Pooling	32814053
Intra	USH1G	Q495M9	HTRA2	Homo sapiens	O43464	Y2H Array	32814053
Intra	USH1G	Q495M9	CBX8	Homo sapiens	Q9HC52	Validated Y2H	32296183
Intra	USH1G	Q495M9	INO80B	Homo sapiens	Q9C086	Validated Y2H	32296183
Intra	USH1G	Q495M9	FAM161B	Homo sapiens	Q96MY7	Validated Y2H	32296183
Intra	USH1G	Q495M9	ENKD1	Homo sapiens	Q9H0I2	Validated Y2H	32296183
Intra	USH1G	Q495M9	SCNM1	Homo sapiens	Q9BWG6	Validated Y2H	32296183
Intra	USH1G	Q495M9	PRPH	Homo sapiens	P41219	Validated Y2H	32814053
Intra	USH1G	Q495M9	PRPH	Homo sapiens	P41219	Y2H Pooling	32814053
Intra	USH1G	Q495M9	PRPH	Homo sapiens	P41219	Y2H Array	32814053
Intra	USH1G	Q495M9	DAXX	Homo sapiens	Q9UER7	Validated Y2H	32296183
Intra	USH1G	Q495M9	USH1C	Homo sapiens	Q9Y6N9	BRET	29997244
Intra	USH1G	Q495M9	USH1C	Homo sapiens	Q9Y6N9	Anti Tag CoIP	33961781
Intra	USH1G	Q495M9	USH1C	Homo sapiens	Q9Y6N9	TAP	27173435
Intra	USH1G	Q495M9	USH1C	Homo sapiens	Q9Y6N9	Anti Tag CoIP	28514442
Intra	USH1G	Q495M9	USH1C	Homo sapiens	Q9Y6N9	Lumier	32814053
Intra	USH1G	Q495M9	USH1C	Homo sapiens	Q9Y6N9	Lumier	29997244
Intra	USH1G	Q495M9	AIRIM	Homo sapiens	Q9NX04	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Usher Syndrome, Type Ig

Usher Syndrome Type 1g	USH1G
Usher Syndrome, Type 1g	Usher Syndrome Type Ig
Usher Syndrome 1g	Usher'S Syndrome Type 1g

Usher Syndrome, Type I

USH1	Usher Syndrome Type 1
Us1	Usher Syndrome, Type 1b
Usher Syndrome Type 1e	Retinitis Pigmentosa And Congenital Deafness
Usher Syndrome, Type Ie	USH1E
Usher Syndrome, Type 1e	Usher Syndrome, Type 1a
Usher Syndrome, Type Ib	Usher Syndrome Type 1b
Usher Syndrome Type Ie	Usher Syndrome Type I
Usher 1	Usher Syndrome, Type 1
Ush1a	Usher Syndrome, Type I, French Variety
Usher Syndrome, Type Ia	Usher Syndrome 1b
USH1B	Usher'S Syndrome Type 1b
Usher Syndrome Type Ib	Ushib

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Recessive

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Usher Syndrome Type 2

Ush2	Usher Syndrome Type Ii

Usher Syndrome, Type Iiia

Usher Syndrome Type 3	Ush3
Usher Syndrome Type 3a	USH3A
Usher Syndrome, Type Iii	Usher Syndrome, Type 3
Usher Syndrome, Type 3a	Usher Syndrome Type Iiia
Usher Syndrome 3a	Usher'S Syndrome Type 3
Usher Syndrome Iii	Usher Syndrome Type Iii

Usher Syndrome, Type Ic

USH1C	Usher Syndrome Type 1c
Usher Syndrome, Type 1c	Usher Syndrome Type I Acadian Variety
Usher Syndrome Type Ic	Usher Syndrome, Type I, Acadian Variety
Usher Syndrome 1c	Acadian Usher Syndrome
Usher'S Syndrome Type 1c

Deafness, Autosomal Dominant 11

DFNA11	Autosomal Dominant Nonsyndromic Deafness 11
Autosomal Dominant Deafness 11	Deafness, Autosomal Dominant, 11
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11	Deafness, Autosomal Dominant, Type 11

Deafness, Autosomal Recessive 57

DFNB57	Autosomal Recessive Nonsyndromic Deafness 57
Autosomal Recessive Deafness 57	Deafness, Autosomal Recessive, 57
Deafness, Autosomal Recessive, Type 57

Deafness, Autosomal Recessive 23

DFNB23	Autosomal Recessive Nonsyndromic Deafness 23
Autosomal Recessive Deafness 23	Deafness, Autosomal Recessive, 23
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23
Deafness, Autosomal Recessive, Type 23

Usher Syndrome, Type Iid

Usher Syndrome Type 2d	USH2D
Usher Syndrome, Type 2d	Usher Syndrome Type Iid
Usher Syndrome 2d	Usher Syndrome, Type Ii

Leber Congenital Amaurosis With Early-Onset Deafness

LCAEOD

Deafness, Autosomal Recessive 2

DFNB2	Neurosensory Nonsyndromic Recessive Deafness 2
Nsrd2	Autosomal Recessive Nonsyndromic Deafness 2
Deafness, Autosomal Recessive, Type 2	Autosomal Recessive Deafness 2
Deafness, Autosomal Recessive, 2	Deafness Neurosensory Autosomal Recessive 2
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2
Deafness, Autosomal Recessive 2, Neurosensory

Usher Syndrome, Type If

Usher Syndrome Type 1f	USH1F
Usher Syndrome, Type 1f	Usher Syndrome Type If
Usher Syndrome 1f	Usher'S Syndrome Type 1f

Deafness, Autosomal Recessive 12

DFNB12	Deafness, Autosomal Recessive 12, Modifier Of
Autosomal Recessive Nonsyndromic Deafness 12	Autosomal Recessive Deafness 12
Deafness, Autosomal Recessive, 12	Congenital Neurosensory Deafness Autosomal Recessive 12
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12
Deafness, Autosomal Recessive, Type 12

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Deafness, Autosomal Dominant 25

DFNA25	Autosomal Dominant Nonsyndromic Deafness 25
Autosomal Dominant Deafness 25	Deafness, Autosomal Dominant, 25
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25
Deafness, Autosomal Dominant, Type 25

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Amme Complex

Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis	ATS-MR
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Chromosome Xq22.3 Telomeric Deletion Syndrome
Amme Syndrome	Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis

Usher Syndrome, Type Id

Usher Syndrome Type 1d	USH1D
Usher Syndrome, Type 1d	Usher Syndrome Type Id
Usher Syndrome, Type Id/F, Digenic	Usher Syndrome, Type 1d/F Digenic
Usher Syndrome 1d	Usher'S Syndrome Type 1d
Usher Syndrome 1d/F	USH1DF
Ush1d/F	Usher'S Syndrome Type 1h
Usher Syndrome 1h	Usher Syndrome Type Ih
Usher Syndrome, Type 1d/F

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Usher Syndrome, Type Iia

Usher Syndrome Type 2a	USH2A
Usher Syndrome, Type 2a	Usher Syndrome Type Iia
Retinal Disease In Usher Syndrome Type Iia, Modifier Of	Us2
Ush2	Usher Syndrome 2a
Usher'S Syndrome Type 2a	Ushiia

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Eye Degenerative Disease

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15517	USH1G Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	USH1G	VGNC	VGNC:48173
Mus musculus	USH1G	MGD	MGI:2450757
Bos taurus	USH1G	VGNC	VGNC:36705
Macaca mulatta	USH1G	VGNC	VGNC:104672
Felis catus	USH1G	VGNC	VGNC:66861
Rattus norvegicus	USH1G	RGD	RGD:1304551