USH1G - USH1 protein network component sans Gene

Also Known as SANS; ANKS4A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 124590

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	Verweise	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	Verweise	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	Verweise	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)

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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS15517	USH1G Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22898	Ush1g Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29412	Ush1g Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	USH1G	NCBI