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Aliases for USH1G Gene

Aliases for USH1G Gene

  • Usher Syndrome 1G (Autosomal Recessive) 2 3
  • Scaffold Protein Containing Ankyrin Repeats And SAM Domain 3 4
  • SANS 3 4
  • Usher Syndrome Type-1G Protein 3
  • ANKS4A 3
  • SANS, 6

External Ids for USH1G Gene

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 (Usher Syndrome 1G (Autosomal Recessive)) is a Protein Coding gene. Diseases associated with USH1G include usher syndrome, type 1g and usher syndrome, type 1f. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is ANKS4B.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USH1G Gene

Genomics for USH1G Gene

Genomic Location for USH1G Gene

Start:
74,916,084 bp from pter
End:
74,923,263 bp from pter
Size:
7,180 bases
Orientation:
Minus strand

Genomic View for USH1G Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for USH1G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USH1G Gene

Regulatory Elements 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

Proteomics data for USH1G Gene at MOPED

Post-translational modifications for USH1G Gene

No Post-translational modifications

Other Protein References for USH1G Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for USH1G Gene

Domains for USH1G Gene

Gene Families for USH1G Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing
  • SAMD :Sterile alpha motif (SAM) domain containing

Protein Domains for USH1G Gene

Suggested Antigen Peptide Sequences for USH1G Gene

Graphical View of Domain Structure for InterPro Entry

Q495M9

UniProtKB/Swiss-Prot:

USH1G_HUMAN
Domain:
  • Contains 1 SAM (sterile alpha motif) domain.:
    • Q495M9
Similarity:
  • Contains 3 ANK repeats.:
    • Q495M9
genes like me logo Genes that share domains with USH1G: view

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.

Gene Ontology (GO) - Molecular Function for USH1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19028668
GO:0030507 spectrin binding IDA 23704327
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

Animal Models for USH1G Gene

MGI Knock Outs for USH1G:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for USH1G Gene COMPARTMENTS Subcellular localization image for USH1G gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 5
nucleus 3

Gene Ontology (GO) - Cellular Components for USH1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0015629 actin cytoskeleton ISS 12588794
genes like me logo Genes that share ontologies with USH1G: view

Pathways for USH1G Gene

SuperPathways for USH1G Gene

No Data Available

Interacting Proteins for USH1G Gene

Selected Interacting proteins: Q495M9-USH1G_HUMAN for USH1G Gene via MINT I2D

Symbol External ID(s) Details
USH1C
MYO7A
--
  • Q7RTU8 21

Gene Ontology (GO) - Biological Process for USH1G Gene

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

No data available for Pathways by source for USH1G Gene

Transcripts for USH1G Gene

mRNA/cDNA for USH1G Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for USH1G Gene

Usher syndrome 1G (autosomal recessive):
Representative Sequences:

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

No ASD Table

Relevant External Links for USH1G Gene

GeneLoc Exon Structure for
USH1G
ECgene alternative splicing isoforms for
USH1G

Expression for USH1G Gene

mRNA expression in normal human tissues 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 (20.9), Skin - Sun Exposed (Lower leg) (6.8), Testis (4.8), and Skin - Not Sun Exposed (Suprapubic) (4.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for USH1G Gene

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.
genes like me logo Genes that share expressions with USH1G: view

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 35
  • 99.28 (n)
  • 99.78 (a)
USH1G 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia USH1G 35
  • 91.47 (n)
  • 95.01 (a)
USH1G 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia USH1G 35
  • 92.41 (n)
  • 96.28 (a)
USH1G 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ush1g 35
  • 90.82 (n)
  • 96.31 (a)
Ush1g 16
Ush1g 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia USH1G 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ush1g 35
  • 90.46 (n)
  • 95.88 (a)
chicken
(Gallus gallus)
Aves USH1G 35
  • 76.2 (n)
  • 77.95 (a)
USH1G 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia USH1G 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ush1g 35
  • 73.32 (n)
  • 73.46 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100330314 35
  • 69.51 (n)
  • 71.55 (a)
ush1g 36
  • 60 (a)
OneToMany
USH1G (1 of 2) 36
  • 68 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007027 35
  • 48.4 (n)
  • 38.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sans 35
  • 46.97 (n)
  • 36.4 (a)
Sans 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for USH1G:
  • 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)

Paralogs for USH1G Gene

Paralogs for USH1G Gene

Selected SIMAP similar genes for USH1G Gene using alignment to 2 proteins:

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

Variants for USH1G Gene

Sequence variations from dbSNP and Humsavar for USH1G Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs525483 -- 74,921,202(+) GGGCC(C/G)TGTCT intron-variant
rs690469 -- 74,921,157(+) CCGGG(A/G)TGAGC intron-variant
rs690470 -- 74,921,154(+) AGCCC(C/G)GGATG intron-variant
rs690566 -- 74,916,980(+) ACACG(C/T)ACACA utr-variant-3-prime
rs1013013 -- 74,916,770(+) GCTGG(A/G)ACACA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv518292 CNV Loss 19592680
nsv908744 CNV Loss 21882294
nsv833540 CNV Loss 17160897
dgv3254n71 CNV Loss 21882294
nsv457909 CNV Gain 19166990

Relevant External Links for USH1G Gene

HapMap Linkage Disequilibrium report
USH1G
Human Gene Mutation Database (HGMD)
USH1G
Locus Specific Mutation Databases (LSDB)
USH1G

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

Disorders for USH1G Gene

(1) OMIM Diseases for USH1G Gene (607696)

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}. 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}.

(3) University of Copenhagen DISEASES for USH1G Gene

(1) Novoseek inferred disease relationships for USH1G Gene

Disease -log(P) Hits PubMed IDs
usher syndrome 95.6 7

Relevant External Links for USH1G

GeneTests
USH1G
GeneReviews
USH1G
Genetic Association Database (GAD)
USH1G
Human Genome Epidemiology (HuGE) Navigator
USH1G
genes like me logo Genes that share disorders with USH1G: view

Publications for USH1G Gene

  1. 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. … MillA!n J. (Ophthalmic Genet. 2007) 3 23 48
  2. The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. (PMID: 20142502) Yan J. … Zhang M. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4 23
  3. 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. (Hum. Mol. Genet. 2003) 2 3 4
  4. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. (PMID: 16283141) Kalay E. … Kremer H. (J. Mol. Med. 2005) 3 4 23
  5. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. (PMID: 19028668) Schneider E. … Haaf T. (Hum. Mol. Genet. 2009) 3 4

Products for USH1G Gene

Sources for USH1G Gene

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