• Gene id: 124590

Gene Summary

• Gene Symbol: USH1G   Gene   UCSC   Ensembl
• Aliases: ANKS4A, SANS
• Gene name: USH1 protein network component sans
• Alternate names: Usher syndrome type-1G protein, Usher syndrome 1G (autosomal recessive), scaffold protein containing ankyrin repeats and SAM domain,
• Gene location: 17q25.1 (74923254: 74916082)     Exons: 4     NC_000017.11
• Gene summary(Entrez): 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 developm
• OMIM: 607696

Protein Summary

• Protein general information: Q495M9  
  • Name: Usher syndrome type 1G protein (Scaffold protein containing ankyrin repeats and SAM domain)
  • Length: 461  
  • Mass: 51489
  • Tissue specificity: Expressed in vestibule of the inner ear, eye and small intestine. {ECO
• Sequence:

  MNDQYHRAARDGYLELLKEATRKELNAPDEDGMTPTLWAAYHGNLESLRLIVSRGGDPDKCDIWGNTPLHLAASN
  GHLHCLSFLVSFGANIWCLDNDYHTPLDMAAMKGHMECVRYLDSIAAKQSSLNPKLVGKLKDKAFREAERRIREC
  AKLQRRHHERMERRYRRELAERSDTLSFSSLTSSTLSRRLQHLALGSHLPYSQATLHGTARGKTKMQKKLERRKQ
  GGEGTFKVSEDGRKSARSLSGLQLGSDVMFVRQGTYANPKEWGRAPLRDMFLSDEDSVSRATLAAEPAHSEVSTD
  SGHDSLFTRPGLGTMVFRRNYLSSGLHGLGREDGGLDGVGAPRGRLQSSPSLDDDSLGSANSLQDRSCGEELPWD
  ELDLGLDEDLEPETSPLETFLASLHMEDFAALLRQEKIDLEALMLCSDLDLRSISVPLGPRKKILGAVRRRRQAM
  ERPPALEDTEL

• Structural information:
  • Protein Domains: (385..44-)
    (/note="SAM"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR001660  IPR013761   IPR033350  IPR037602  
  • Prosite: PS50297 PS50088
  • CDD: cd09586
  • PDB: 2L7T 3K1R 3PVL
  • PDBsum: 2L7T 3K1R 3PVL
  • DIP: 41617
  • STRING: ENSP00000480279
• Other Databases: GeneCards:  USH1G  Malacards:  USH1G

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0030507	spectrin binding	IDA	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0036064	ciliary basal body	IEA	cellular component
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0060113	inner ear receptor cell differentiation	IEA	biological process
GO:0060122	inner ear receptor cell stereocilium organization	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045494	photoreceptor cell maintenance	IMP	biological process
GO:0015629	actin cytoskeleton	ISS	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0050953	sensory perception of light stimulus	IMP	biological process
GO:0050957	equilibrioception	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0050953	sensory perception of light stimulus	IEA	biological process
GO:0050957	equilibrioception	IEA	biological process

Diseases

Associated diseases	References
Usher syndrome	KEGG:H00779
Usher syndrome	KEGG:H00779
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq