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 sens... See more...

Aliases for USH1G Gene

Aliases for USH1G Gene

  • USH1 Protein Network Component Sans 2 3 5
  • Scaffold Protein Containing Ankyrin Repeats And SAM Domain 3 4
  • Usher Syndrome 1G (Autosomal Recessive) 2 3
  • Usher Syndrome Type-1G Protein 3 4
  • SANS 3 4
  • ANKS4A 3

External Ids for USH1G Gene

Previous GeneCards Identifiers for USH1G Gene

  • GC17U990308
  • GC17M075971
  • GC17M073376
  • GC17M073509
  • GC17M070423
  • GC17M072912
  • GC17M068322

Summaries for USH1G Gene

Entrez Gene Summary for USH1G Gene

  • 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]

GeneCards Summary for USH1G Gene

USH1G (USH1 Protein Network Component Sans) is a Protein Coding gene. Diseases associated with USH1G include Usher Syndrome, Type Ig and Usher Syndrome, Type I. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and spectrin binding. An important paralog of this gene is ANKS4B.

UniProtKB/Swiss-Prot Summary for USH1G Gene

  • Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

Gene Wiki entry for USH1G Gene

Additional gene information for USH1G Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USH1G Gene

Genomics for USH1G Gene

GeneHancer (GH) Regulatory Elements for USH1G Gene

Promoters and enhancers for USH1G Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J074926 Promoter 1.3 EPDnew Ensembl 500.7 +0.1 62 0.4 CTCF ZBTB26 TOE1 MYC EZH2 KLF9 FOSL1 POLR2A POLR2G KLF8 OTOP2 USH1G
GH17J074923 Promoter/Enhancer 1.2 Ensembl ENCODE 500.7 -0.4 -438 0.2 CTCF ZBTB26 REST MYC TGIF2 RAD21 SMC3 MXI1 ZSCAN9 EZH2 OTOP2 USH1G OTOP3
GH17J074925 Promoter 0.7 EPDnew 500.7 -1.0 -1020 0.1 EZH2 PBX2 TFDP1 MEIS2 RNF2 SUZ12 PKNOX1 ZBTB8A IKZF1 OTOP2 USH1G OTOP3
GH17J074924 Promoter 0.7 EPDnew 500.7 -1.4 -1387 0.1 ZNF263 EZH2 E2F6 RNF2 SUZ12 MAX IKZF1 POLR2A OTOP2 USH1G OTOP3
GH17J074920 Enhancer 0.7 Ensembl 500.7 +2.0 1963 1.4 ZIC2 EZH2 WT1 ZFHX2 SCRT1 ZNF18 GLIS1 ZNF398 ZNF24 ZBTB33 OTOP2 USH1G piR-33422-180
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USH1G on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USH1G

Top Transcription factor binding sites by QIAGEN in the USH1G gene promoter:
  • C/EBPalpha
  • CHOP-10
  • CREB
  • deltaCREB
  • FOXO1
  • FOXO1a
  • Hlf
  • Nkx5-1
  • Pax-4a
  • ZID

Genomic Locations for USH1G Gene

Genomic Locations for USH1G Gene
chr17:74,916,083-74,923,263
(GRCh38/hg38)
Size:
7,181 bases
Orientation:
Minus strand
chr17:72,912,176-72,919,351
(GRCh37/hg19)
Size:
7,176 bases
Orientation:
Minus strand

Genomic View for USH1G Gene

Genes around USH1G on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USH1G Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USH1G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USH1G Gene

Proteins for USH1G Gene

  • Protein details for USH1G Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q495M9-USH1G_HUMAN
    Recommended name:
    Usher syndrome type-1G protein
    Protein Accession:
    Q495M9
    Secondary Accessions:
    • Q8N251

    Protein attributes for USH1G Gene

    Size:
    461 amino acids
    Molecular mass:
    51489 Da
    Quaternary structure:
    • Interacts with CDH23 and PCDH15; these interactions may recruit USH1G to the plasma membrane (By similarity). Interacts with USH1C (via the first PDZ domain) and with USH1G. Interacts with PDZD7. Interacts with MYO7A. Part of a complex composed of USH1C, USH1G and MYO7A.

    Three dimensional structures from OCA and Proteopedia for USH1G Gene

neXtProt entry for USH1G Gene

Post-translational modifications for USH1G Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for USH1G Gene

No data available for DME Specific Peptides for USH1G Gene

Domains & Families for USH1G Gene

Gene Families for USH1G Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for USH1G Gene

Suggested Antigen Peptide Sequences for USH1G Gene

GenScript: Design optimal peptide antigens:
  • Scaffold protein containing ankyrin repeats and SAM domain (USH1G_HUMAN)
genes like me logo Genes that share domains with USH1G: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for USH1G Gene

Function for USH1G Gene

Molecular function for USH1G Gene

UniProtKB/Swiss-Prot Function:
Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

Phenotypes From GWAS Catalog for USH1G Gene

Gene Ontology (GO) - Molecular Function for USH1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 19028668
GO:0030507 spectrin binding IDA 23704327
GO:0042802 identical protein binding IPI 20142502
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with USH1G: view
genes like me logo Genes that share phenotypes with USH1G: view

Human Phenotype Ontology for USH1G Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for USH1G Gene

MGI Knock Outs for USH1G:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USH1G

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for USH1G Gene

Localization for USH1G Gene

Subcellular locations from UniProtKB/Swiss-Prot for USH1G Gene

Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein. Note=Detected at the tip of cochlear hair cell stereocilia. Recruited to the cell membrane via interaction with CDH23 or PCDH15 (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USH1G gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
cytosol 4
nucleus 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for USH1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with USH1G: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for USH1G Gene

Pathways & Interactions for USH1G Gene

PathCards logo

SuperPathways for USH1G Gene

No Data Available

Gene Ontology (GO) - Biological Process for USH1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IMP,IEA 11398101
GO:0042472 inner ear morphogenesis IEA --
GO:0045494 photoreceptor cell maintenance IMP 11398101
GO:0050953 sensory perception of light stimulus IEA,IMP 11398101
GO:0050957 equilibrioception IMP,IEA 12588794
genes like me logo Genes that share ontologies with USH1G: view

No data available for Pathways by source and SIGNOR curated interactions for USH1G Gene

Drugs & Compounds for USH1G Gene

No Compound Related Data Available

Transcripts for USH1G Gene

mRNA/cDNA for USH1G Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USH1G

Alternative Splicing Database (ASD) splice patterns (SP) for USH1G Gene

No ASD Table

Relevant External Links for USH1G Gene

GeneLoc Exon Structure for
USH1G

Expression for USH1G Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USH1G Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for USH1G Gene

This gene is overexpressed in Esophagus - Mucosa (x20.9), Skin - Sun Exposed (Lower leg) (x6.8), Testis (x4.8), and Skin - Not Sun Exposed (Suprapubic) (x4.3).

Protein differential expression in normal tissues from HIPED for USH1G Gene

This gene is overexpressed in Bone (66.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for USH1G Gene



Protein tissue co-expression partners for USH1G Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USH1G

SOURCE GeneReport for Unigene cluster for USH1G Gene:

Hs.376688

mRNA Expression by UniProt/SwissProt for USH1G Gene:

Q495M9-USH1G_HUMAN
Tissue specificity: Expressed in vestibule of the inner ear, eye and small intestine.

Phenotype-based relationships between genes and organs from Gene ORGANizer for USH1G Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • nose
  • skull
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with USH1G: view

No data available for Evidence on tissue expression from TISSUES for USH1G Gene

Orthologs for USH1G Gene

This gene was present in the common ancestor of animals.

Orthologs for USH1G Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia USH1G 31 30
  • 99.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia USH1G 31 30
  • 92.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia USH1G 31 30
  • 91.47 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ush1g 17 31 30
  • 90.82 (n)
rat
(Rattus norvegicus)
Mammalia Ush1g 30
  • 90.46 (n)
oppossum
(Monodelphis domestica)
Mammalia USH1G 31
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves USH1G 31 30
  • 76.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia USH1G 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ush1g 30
  • 73.32 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100330314 30
  • 69.51 (n)
USH1G (1 of 2) 31
  • 68 (a)
OneToMany
ush1g 31
  • 60 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007027 30
  • 48.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sans 31 30
  • 46.97 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for USH1G was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for USH1G Gene

ENSEMBL:
Gene Tree for USH1G (if available)
TreeFam:
Gene Tree for USH1G (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USH1G: view image

Paralogs for USH1G Gene

Paralogs for USH1G Gene

(4) SIMAP similar genes for USH1G Gene using alignment to 2 proteins:

  • USH1G_HUMAN
  • J3KSN5_HUMAN
genes like me logo Genes that share paralogs with USH1G: view

Variants for USH1G Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USH1G Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
667348 Uncertain Significance: not specified 74,920,385(-) C/T MISSENSE_VARIANT
710781 Likely Benign: not provided 74,920,464(-) C/T SYNONYMOUS_VARIANT
805738 Uncertain Significance: not provided 74,919,699(-) T/G MISSENSE_VARIANT
805739 Uncertain Significance: not provided 74,923,009(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
808316 Uncertain Significance: not provided 74,920,007(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for USH1G Gene

Structural Variations from Database of Genomic Variants (DGV) for USH1G Gene

Variant ID Type Subtype PubMed ID
nsv1056788 CNV gain 25217958
nsv457909 CNV gain 19166990
nsv518292 CNV loss 19592680
nsv576026 CNV gain 21841781
nsv833540 CNV loss 17160897
nsv952367 CNV deletion 24416366

Variation tolerance for USH1G Gene

Residual Variation Intolerance Score: 57.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.52; 64.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USH1G Gene

Human Gene Mutation Database (HGMD)
USH1G
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USH1G

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USH1G Gene

Disorders for USH1G Gene

MalaCards: The human disease database

(28) MalaCards diseases for USH1G Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
usher syndrome, type ig
  • ush1g
usher syndrome, type i
  • ush1
branchiootic syndrome 1
  • bos1
usher syndrome
  • retinitis pigmentosa-deafness syndrome
usher syndrome, type iiia
  • ush3a
- elite association - COSMIC cancer census association via MalaCards
Search USH1G in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

USH1G_HUMAN
  • Usher syndrome 1G (USH1G) [MIM:606943]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. {ECO:0000269 PubMed:12588794, ECO:0000269 PubMed:16283141, ECO:0000269 PubMed:20142502}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=The first cases with non-syndromic sensorineural hearing loss based on mutations in USH1G. The hearing loss has an onset during early childhood, is progressive, and has a downsloping audiogram configuration. Ophthalmic and vestibular abnormalities are absent. {ECO:0000269 PubMed:25255398}.

Additional Disease Information for USH1G

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with USH1G: view

No data available for Genatlas for USH1G Gene

Publications for USH1G Gene

  1. The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. (PMID: 20142502) Yan J … Zhang M (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 23 54
  2. Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome. (PMID: 17896313) Aller E … Millán J (Ophthalmic genetics 2007) 3 23 41 54
  3. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. (PMID: 16283141) Kalay E … Kremer H (Journal of molecular medicine (Berlin, Germany) 2005) 3 4 23 54
  4. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. (PMID: 12588794) Weil D … Petit C (Human molecular genetics 2003) 2 3 4 54
  5. Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum. (PMID: 25255398) Maria Oonk AM … Pennings RJ (Ear and hearing 2015) 3 4 54

Products for USH1G Gene

Sources for USH1G Gene