LHFPL5 Membrane Protein Introduction

Introduction of LHFPL5

LHFPL5, LHFPL tetraspan subfamily member 5, is a protein that in humans is encoded by the LHFPL5 gene. This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. In the inner ear, it may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel.

Basic Information of LHFPL5
Protein Name	LHFPL tetraspan subfamily member 5 protein
Gene Name	LHFPL5
Aliases	Lipoma HMGIC fusion partner-like 5 protein, Tetraspan membrane protein of hair cell stereocilia, TMHS
Organism	Homo sapiens (Human)
UniProt ID	Q8TAF8
TransmLHFPL5rane Times	4
Length (aa)	219
Sequence	MVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVNTPQAGYFGLFSYCVGNVLSSELICKGGPLDFSSIPSRAFKTAMFFVALGMFLIIGSIICFSLFFICNTATVYKICAWMQLAAATGLMIGCLVYPDGWDSSEVRRMCGEQTGKYTLGHCTIRWAFMLAILSIGDALILSFLAFVLGYRQDKLLPDDYKADGTEEV

Function of LHFPL5 Membrane Protein

LHFPL5 can regulate transducer channel conductance and it is required for fast channel adaptation. It has been reported that mutations in this gene result in deafness in humans. Also, it is proposed to function in hair bundle morphogenesis. LHFPL5 is already present in the MET apparatus at P0 but requires PCDH15 at P3 to remain there. Shaft/ankle link localization suggests that LHFPL5 can interact with link proteins other than PCDH15. In addition, LHFPL5 is important for the normal function of the human cochlea. Moreover, LHFPL5 is one of the components of the sensory mechanotransduction machinery in stereocilia. In hair cells, it is responsible for sensory transduction. Furthermore, LHFPL5 mutation is associated with hearing the loss in the Pakistani population and deafness in humans.

Fig.1 Tetraspan membrane protein in hair cell stereocilia (TMHS)/LHFPL5 bind to PCDH15 and are constituents of the sensory mechanoelectrical transduction (MET) machinery. (Qiu, 2018)

Application of LHFPL5 Membrane Protein in Literature

Mahendrasingam S., et al. Spatiotemporal changes in the distribution of LHFPL5 in mice cochlear hair bundles during development and in the absence of PCDH15. PLoS One. 2017, 12(10): e0185285. PubMed ID: 29069081

This article indicates that LHFPL5 is already present in the MET apparatus at P0 but requires PCDH15 at P3 to remain there. Shaft/ankle link localization suggests that it can interact with link proteins other than PCDH15.
Kalay E., et al. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2006, 27(7): 633-9. PubMed ID: 16752389

This article shows that LHFPL5 is essential for normal function of the human cochlea.
Qiu X. and Müller U. Mechanically Gated Ion Channels in Mammalian Hair Cells. Front Cell Neurosci. 2018, 12:100. PubMed ID: 29755320

This study suggests that LHFPL5 is one of the components of the sensory mechanotransduction machinery in stereocilia which is responsible for sensory transduction in hair cells.
Shang H., et al. Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis. Biomed Res Int. 2018, 15; 2018: 3103986. PubMed ID: 29568747

This article demonstrates that LHFPL5 is identified as one of the deafness autosomal recessive (DFNB) genes. The custom capture panel in this study provides an efficient and comprehensive diagnosis for known deafness genes in small families.
Wang R., et al. Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. Genet Test Mol Biomarkers. 2017, 21(5): 316-321. PubMed ID: 28281779

This article indicates that LHFPL5 mutation is associated with hearing the loss in the Pakistani population. In addition, this study highlights the fact that compound heterozygous mutations, although rare, can occur in consanguineous families.

LHFPL5 Preparation Options

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Reference

Qiu X and Müller U. (2018). Mechanically Gated Ion Channels in Mammalian Hair Cells. Front Cell Neurosci. 11, 12: 100.

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