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

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; 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: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (74916083..74923255, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (75807868..75815042, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (72912175..72919350, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome.
Title: Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome.
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.
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.
Crystall structure shows the interactions between SANS protein domains and its partner Myo7a.
Title: Myosin 7 and its adaptors link cadherins to actin.
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.
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.
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.
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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1830 (e-PCR)
- UniSTS:53775

D17S1806 (e-PCR)
- UniSTS:46177

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	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

NG_007882.2 RefSeqGene

Range

5009..12181

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1416

mRNA and Protein(s)

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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

74916083..74923255 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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