ush1c.S USH1 protein network component harmonin S homeolog [Xenopus laevis (African clawed frog)] - Gene

Summary

Official Symbol: ush1c.S
Official Full Name: USH1 protein network component harmonin S homeolog
Primary source: Xenbase:XB-GENE-6078774
Locus tag: XELAEV_18024663mg
See related: EnsemblRapid:ENSXLAG00005004401 AllianceGenome:Xenbase:XB-GENE-6078774
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Xenopus laevis
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Amphibia; Batrachia; Anura; Pipoidea; Pipidae; Xenopodinae; Xenopus; Xenopus
Also known as: ush1c; ush1c.L
Summary: Predicted to act upstream of or within inner ear development; retinal cone cell development; and sensory perception of sound. Predicted to be located in several cellular components, including cilium; photoreceptor inner segment; and stereocilium tip. Predicted to be part of stereocilia ankle link complex. Human ortholog(s) of this gene implicated in Usher syndrome; Usher syndrome type 1; Usher syndrome type 1C; and autosomal recessive nonsyndromic deafness 18A. Orthologous to human USH1C (USH1 protein network component harmonin). [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

Location:: chromosome: 4S

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
101	current	Xenopus_laevis_v10.1 (GCF_017654675.1)	4S	NC_054378.1 (23420926..23461123)
100	previous assembly	Xenopus_laevis_v2 (GCF_001663975.1)	4S	NC_030731.1 (22871415..22911948)

Chromosome 4S - NC_054378.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by Xenbase

Process	Evidence Code	Pubs
acts_upstream_of_or_within inner ear auditory receptor cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within inner ear receptor cell stereocilium organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retinal cone cell development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sensory perception of sound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
part_of stereocilia ankle link complex	IEA Inferred from Electronic Annotation more info
located_in stereocilium tip	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: USH1 protein network component harmonin S homeolog

Names: USH1 protein network component harmonin L homeolog; Usher syndrome 1C (autosomal recessive, severe); Usher syndrome 1C L homeolog

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.

mRNA and Protein(s)

NM_001096425.1 → NP_001089894.1 USH1 protein network component harmonin S homeolog

See identical proteins and their annotated locations for NP_001089894.1

Status: PROVISIONAL

Source sequence(s)

BC108635

UniProtKB/TrEMBL

Q2VPL1

Related

ENSXLAP00005013159.1, ENSXLAT00005013339.1

Conserved Domains (3) summary

cd00992
Location:85 → 165

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd07353
Location:2 → 80

harmonin_N; N-terminal protein-binding module of harmonin

pfam17380
Location:303 → 386

DUF5401; Family of unknown function (DUF5401)

RefSeqs of Annotated Genomes: Xenopus laevis Annotation Release 101 details...

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

Reference Xenopus_laevis_v10.1 Primary Assembly

Genomic

NC_054378.1 Reference Xenopus_laevis_v10.1 Primary Assembly

Range

23420926..23461123

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_041591456.1 → XP_041447390.1 USH1 protein network component harmonin S homeolog isoform X5

UniProtKB/TrEMBL

A0A8J1N2K5

Conserved Domains (4) summary

PHA03247
Location:594 → 751

PHA03247; large tegument protein UL36; Provisional

cd00992
Location:118 → 198

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd07353
Location:35 → 113

harmonin_N; N-terminal protein-binding module of harmonin

pfam17380
Location:336 → 419

DUF5401; Family of unknown function (DUF5401)
XM_041591453.1 → XP_041447387.1 USH1 protein network component harmonin S homeolog isoform X1

UniProtKB/TrEMBL

A0A8J1N033

Conserved Domains (3) summary

cd00992
Location:118 → 198

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd07353
Location:35 → 113

harmonin_N; N-terminal protein-binding module of harmonin

pfam17380
Location:336 → 419

DUF5401; Family of unknown function (DUF5401)
XM_041591454.1 → XP_041447388.1 USH1 protein network component harmonin S homeolog isoform X2

UniProtKB/TrEMBL

A0A8J1N1T9

Conserved Domains (3) summary

cd00992
Location:118 → 198

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd07353
Location:35 → 113

harmonin_N; N-terminal protein-binding module of harmonin

pfam17380
Location:336 → 419

DUF5401; Family of unknown function (DUF5401)
XM_041591455.1 → XP_041447389.1 USH1 protein network component harmonin S homeolog isoform X3

UniProtKB/TrEMBL

A0A8J1MZS6

Related

ENSXLAP00005013181.1, ENSXLAT00005013361.1

Conserved Domains (3) summary

cd00992
Location:118 → 198

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd07353
Location:35 → 113

harmonin_N; N-terminal protein-binding module of harmonin

pfam17380
Location:336 → 419

DUF5401; Family of unknown function (DUF5401)
XM_018259768.2 → XP_018115257.1 USH1 protein network component harmonin S homeolog isoform X4

UniProtKB/TrEMBL

A0A8J0V9C0

Related

ENSXLAP00005013170.1, ENSXLAT00005013350.1