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

Gene ID: 328789, updated on 2-Nov-2024

Summary

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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, Nov 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

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See Lhfpl5 in Genome Data Viewer
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_000083.7Genomic Context describing neighboring genes Neighboring gene colipase-like 2 Neighboring gene STARR-seq mESC enhancer starr_42221 Neighboring gene microRNA 6969 Neighboring gene colipase, pancreatic Neighboring gene STARR-seq mESC enhancer starr_42224 Neighboring gene serine/arginine-rich protein specific kinase 1 Neighboring gene STARR-seq mESC enhancer starr_42228 Neighboring gene solute carrier family 26, member 8 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:28828272-28828381

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The tetraspan LHFPL5 is critical to establish maximal force sensitivity of the mechanotransduction channel of cochlear hair cells. Qiu X, et al. Cell Rep, 2023 Mar 28. PMID 36917610, Free PMC Article
  2. Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation. Longo-Guess CM, et al. Mamm Genome, 2007 Sep. PMID 17876667, Free PMC Article
  3. Localization of TMC1 and LHFPL5 in auditory hair cells in neonatal and adult mice. Li X, et al. FASEB J, 2019 Jun. PMID 30808210
  4. Surgery-free video-oculography in mouse models: enabling quantitative and short-interval longitudinal assessment of vestibular function. Yang X, et al. Neurosci Lett, 2019 Mar 23. PMID 30597229
  5. Structure of mouse protocadherin 15 of the stereocilia tip link in complex with LHFPL5. Ge J, et al. Elife, 2018 Aug 2. PMID 30070639, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
Submit: New GeneRIF Correction

Variation

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Alleles

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

General gene information

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Markers

Homology

Clone Names

  • MGC117706

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)

  1. 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

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    28794330..28802567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4KL25.1 GenPept UniProtKB/Swiss-Prot:Q4KL25

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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