Lhfpl5 lipoma HMGIC fusion partner-like 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lhfpl5provided by MGI
Official Full Name: lipoma HMGIC fusion partner-like 5provided by MGI
Primary source: MGI:MGI:1915382
See related: Ensembl:ENSMUSG00000062252 AllianceGenome:MGI:1915382
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tmhs; hscy; 9330179O15Rik
Summary: Acts upstream of or within auditory receptor cell stereocilium organization and detection of mechanical stimulus involved in sensory perception of sound. Located in apical plasma membrane and stereocilium tip. Is expressed in several structures, including cranial ganglion; genitourinary system; inner ear; lung; and superior cervical ganglion. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 67. Orthologous to human LHFPL5 (LHFPL tetraspan subfamily member 5). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in CNS E18 (RPKM 2.7), cerebellum adult (RPKM 2.4) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 A3.3; 17 14.77 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (28794330..28802567)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (28575369..28583593)

Chromosome 17 - NC_000083.7 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?

LHFPL5 is a key element in force transmission from the tip link to the hair cell mechanotransducer channel.
Title: LHFPL5 is a key element in force transmission from the tip link to the hair cell mechanotransducer channel.
Alternative Splicing of Three Genes Encoding Mechanotransduction-Complex Proteins in Auditory Hair Cells.
Title: Alternative Splicing of Three Genes Encoding Mechanotransduction-Complex Proteins in Auditory Hair Cells.
LHFPL5 forms extensive interactions with the PCDH15 transmembrane helices and stabilizes the overall PCDH15-LHFPL5 assembly.
Title: Structure of mouse protocadherin 15 of the stereocilia tip link in complex with LHFPL5.
data show that LHFPL5 is already present in the MET apparatus at P0 but requires PCDH15 at P3 to remain there. Shaft/ankle link localisation suggests it interacts with link proteins other than PCDH15
Title: Spatiotemporal changes in the distribution of LHFPL5 in mice cochlear hair bundles during development and in the absence of PCDH15.
TMHS is an integral component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel.
Title: TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells.
Hurry-scurry (hscy)-2J, a mutation of Tmhs, causes abnormal splicing from a cryptic splice site within exon 2 that is predicted to produce a functionally null protein lacking 51 amino acids of the wild-type sequence.
Title: Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation.
TMHS localizes to the apical membrane of inner ear hair cells during stereocilia formation suggesting a function in hair bundle morphogenesis; a missense mutation underlies deafness in hurry-scurry mice.
Title: A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (2) 1 citation
Spontaneous (1) 1 citation
Targeted (2) 1 citation

General gene information

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Markers

Tmhs (e-PCR), detects polymorphism
- UniSTS:507419

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within auditory receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of mechanical stimulus involved in sensory perception	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in stereocilium bundle	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium tip	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: LHFPL tetraspan subfamily member 5 protein

Names: lipoma HMGIC fusion partner-like 5 protein; tetraspan membrane protein of hair cell stereocilia; tetraspan transmembrane protein, hair cell stereocilia

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_026571.2 → NP_080847.2 LHFPL tetraspan subfamily member 5 protein

See identical proteins and their annotated locations for NP_080847.2

Status: VALIDATED

Source sequence(s)

BC099483, BY721459

Consensus CDS

CCDS37530.1

UniProtKB/Swiss-Prot

B2KF30, Q4KL25

Related

ENSMUSP00000079598.7, ENSMUST00000080780.8

Conserved Domains (1) summary

pfam10242
Location:25 → 202

L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

28794330..28802567

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006524433.5 → XP_006524496.1 LHFPL tetraspan subfamily member 5 protein isoform X1

See identical proteins and their annotated locations for XP_006524496.1

UniProtKB/TrEMBL

B2RWL4

Conserved Domains (1) summary

pfam10242
Location:25 → 202

L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein