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USH1G USH1 protein network component sans [ Homo sapiens (human) ]

Gene ID: 124590, updated on 3-Mar-2019

Summary

Official Symbol
USH1Gprovided by HGNC
Official Full Name
USH1 protein network component sansprovided by HGNC
Primary source
HGNC:HGNC:16356
See related
Ensembl:ENSG00000182040 MIM:607696
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]
Expression
Biased expression in esophagus (RPKM 1.1), skin (RPKM 0.6) and 6 other tissues See more
Orthologs

Genomic context

See USH1G in Genome Data Viewer
Location:
17q25.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (74916083..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 Neighboring gene HID1 domain containing Neighboring gene HID1 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33924

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
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 stereocilium organization 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 
ciliary basal body IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
 
photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
Usher syndrome type-1G protein
Names
Usher syndrome 1G (autosomal recessive)
scaffold protein containing ankyrin repeats and SAM domain

NCBI Reference Sequences (RefSeq)

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_007882.2 RefSeqGene

    Range
    5001..12180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001269418.1

    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/Swiss-Prot
    Q495M9
    UniProtKB/TrEMBL
    B4DL95
    Conserved Domains (2) summary
    cd09586
    Location:285350
    SAM_USH1G; SAM domain of USH1G
    smart00454
    Location:292345
    SAM; Sterile alpha motif
  2. NM_173477.5NP_775748.2  Usher syndrome type-1G protein isoform 1

    See identical proteins and their annotated locations for 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
    ENSP00000480279.1, ENST00000614341.4
    Conserved Domains (3) summary
    cd09586
    Location:388453
    SAM_USH1G; SAM domain of USH1G
    cd00204
    Location:6117
    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 ...
    sd00045
    Location:3162
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    74916083..74923263 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524296.2XP_011522598.1  Usher syndrome type-1G protein isoform X1

    See identical proteins and their annotated locations for XP_011522598.1

    Conserved Domains (2) summary
    cd09586
    Location:285350
    SAM_USH1G; SAM domain of USH1G
    smart00454
    Location:292345
    SAM; Sterile alpha motif
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