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USH1G Usher syndrome 1G (autosomal recessive) [ Homo sapiens (human) ]

Gene ID: 124590, updated on 19-Jul-2014
Official Symbol
USH1Gprovided by HGNC
Official Full Name
Usher syndrome 1G (autosomal recessive)provided by HGNC
Primary source
HGNC:16356
See related
Ensembl:ENSG00000182040; HPRD:09648; MIM:607696; Vega:OTTHUMG00000178864
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SANS; ANKS4A
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]
See USH1G in Epigenomics, MapViewer
Location:
17q25.1
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (74916084..74923263, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72912176..72919351, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ferredoxin reductase Neighboring gene fatty acid desaturase 6 Neighboring gene otopetrin 2 Neighboring gene otopetrin 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ33924

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
spectrin binding IDA
Inferred from Direct Assay
more info
 
Process Evidence Code Pubs
equilibrioception IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
inner ear receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of light stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
Usher syndrome type-1G protein
Names
Usher syndrome type-1G protein
scaffold protein containing ankyrin repeats and SAM domain

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007882.1 

    Range
    4994..12176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282489.2NP_001269418.1  Usher syndrome type-1G protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC087651, AK296899, BC101096, DC403891
    UniProtKB/TrEMBL
    B4DL95
    UniProtKB/Swiss-Prot
    Q495M9
    Conserved Domains (2) summary
    cd09586
    Location:285350
    Blast Score: 304
    SAM_USH1G; SAM domain of USH1G
    smart00454
    Location:292345
    Blast Score: 93
    SAM; Sterile alpha motif
  2. NM_173477.4NP_775748.2  Usher syndrome type-1G protein isoform 1

    See proteins identical to NP_775748.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC087651, BC101096, DC403891
    Consensus CDS
    CCDS32725.1
    UniProtKB/Swiss-Prot
    Q495M9
    Related
    ENSP00000320076, OTTHUMP00000260212, ENST00000319642, OTTHUMT00000443676
    Conserved Domains (4) summary
    cd09586
    Location:388453
    Blast Score: 311
    SAM_USH1G; SAM domain of USH1G
    smart00454
    Location:395448
    Blast Score: 93
    SAM; Sterile alpha motif
    cd00204
    Location:6117
    Blast Score: 295
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:691
    Blast Score: 194
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    74916084..74923263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    68322527..68329709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    72976994..72984175
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)