U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

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

    Summary

    Go to the top of the page Help
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    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

    Go to the top of the page Help

    Alleles

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

    General gene information

    Go to the top of the page Help

    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

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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.

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools