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

Gene ID: 124590, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:16356
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
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Genomic context

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See USH1G in Genome Data Viewer
Location:
17q25.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74916083..74923255, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75807868..75815042, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72912175..72919350, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 86 Neighboring gene ferredoxin reductase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72870273-72871173 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4853 Neighboring gene Sharpr-MPRA regulatory region 12632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72875167-72875668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72875669-72876168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72878575-72879105 Neighboring gene fatty acid desaturase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12722 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72920304-72920487 Neighboring gene Sharpr-MPRA regulatory region 12431 Neighboring gene otopetrin 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:72939523-72940722 Neighboring gene otopetrin 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  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. Aller E, et al. Ophthalmic Genet, 2007 Sep. PMID 17896313
  2. USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis. Imtiaz F, et al. Mol Vis, 2012. PMID 22876113, Free PMC Article
  3. Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum. Maria Oonk AM, et al. Ear Hear, 2015 Mar-Apr. PMID 25255398
  4. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. Kalay E, et al. J Mol Med (Berl), 2005 Dec. PMID 16283141
  5. Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome. D'Esposito F, et al. Eur J Ophthalmol, 2021 Mar. PMID 31566003

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.
    Title: Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.
  2. SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes.
    Title: SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes.
  3. Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome.
    Title: Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome.
  4. Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.
    Title: Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.
  5. The protein products of PCDH15 and USH1G function together at the stereocilia tips in the hair cells.
    Title: Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.
  6. Crystall structure shows the interactions between SANS protein domains and its partner Myo7a.
    Title: Myosin 7 and its adaptors link cadherins to actin.
  7. Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G severely affect formation of the SANS/ush2a/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes.
    Title: Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
  8. USH1G caused a non-syndromic hearing loss in a Dutch family. Compound heterozygous mutations in USH1G were found to segregate with the hearing loss, a missense (c.310A>G, p.Met104Val) and a frameshift mutation (c.780insGCAC, p.Tyr261Alafs*96).
    Title: Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.
  9. In USH1G patients, mutations in SANS eliminate Magi2 binding and thereby deregulate endocytosis, lead to defective ciliary transport modules and ultimately disrupt photoreceptor cell function inducing retinal degeneration.
    Title: Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
  10. A novel p.S243X truncating mutation in USH1G that segregated with the disease phenotype has been identified in consanguineous Saudi Arabia siblings.
    Title: USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Usher syndrome type 1G
MedGen: C1847089 OMIM: 606943 GeneReviews: Usher Syndrome Type I
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ33924

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables spectrin binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in equilibrioception IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in inner ear receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
  
involved_in photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of clathrin-dependent endocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sensory perception of light stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Cajal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary basal body IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary base IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor cell cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor inner segment IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
pre-mRNA splicing regulator USH1G
Names
Usher syndrome 1G (autosomal recessive)
scaffold protein containing ankyrin repeats and SAM domain
usher syndrome type-1G protein

NCBI Reference Sequences (RefSeq)

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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
    5009..12181
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1416

mRNA and Protein(s)

  1. NM_001282489.3 → NP_001269418.1  pre-mRNA splicing regulator USH1G 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
    UniProtKB/TrEMBL
    B4DL95
    Conserved Domains (2) summary
    cd09586
    Location:285 → 350
    SAM_USH1G; SAM domain of USH1G
    smart00454
    Location:292 → 345
    SAM; Sterile alpha motif

  2. NM_173477.5 → NP_775748.2  pre-mRNA splicing regulator USH1G 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, Q8N251
    UniProtKB/TrEMBL
    A8K189
    Related
    ENSP00000480279.1, ENST00000614341.5
    Conserved Domains (3) summary
    cd09586
    Location:388 → 453
    SAM_USH1G; SAM domain of USH1G
    cd00204
    Location:6 → 117
    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:31 → 62
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    74916083..74923255 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524296.2 → XP_011522598.1  pre-mRNA splicing regulator USH1G isoform X1

    See identical proteins and their annotated locations for XP_011522598.1

    UniProtKB/TrEMBL
    B4DL95
    Conserved Domains (2) summary
    cd09586
    Location:285 → 350
    SAM_USH1G; SAM domain of USH1G
    smart00454
    Location:292 → 345
    SAM; Sterile alpha motif

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    75807868..75815042 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314993.1 → XP_054170968.1  pre-mRNA splicing regulator USH1G isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q495M9.1 GenPept UniProtKB/Swiss-Prot:Q495M9

Gene LinkOut

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