LHFPL5

Protein-coding gene in the species Homo sapiens
LHFPL5
Identifiers
AliasesLHFPL5, DFNB67, TMHS, dJ510O8.8, lipoma HMGIC fusion partner-like 5, LHFPL tetraspan subfamily member 5
External IDsOMIM: 609427; MGI: 1915382; HomoloGene: 18794; GeneCards: LHFPL5; OMA:LHFPL5 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for LHFPL5
Genomic location for LHFPL5
Band6p21.31Start35,797,206 bp[1]
End35,845,397 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for LHFPL5
Genomic location for LHFPL5
Band17 A3.3|17 14.77 cMStart28,794,615 bp[2]
End28,804,653 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • body of pancreas

  • testicle

  • epithelium of colon

  • bone marrow cells

  • skin of abdomen

  • skin of leg

  • Brodmann area 9

  • anterior cingulate cortex

  • right frontal lobe

  • blood
Top expressed in
  • otolith organ

  • utricle

  • facial motor nucleus

  • lumbar spinal ganglion

  • vestibular sensory epithelium

  • arcuate nucleus

  • dorsomedial hypothalamic nucleus

  • supraoptic nucleus

  • median eminence

  • pontine nuclei
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
Cellular component
  • stereocilium bundle
  • integral component of membrane
  • plasma membrane
  • apical plasma membrane
  • stereocilium tip
  • membrane
Biological process
  • auditory receptor cell stereocilium organization
  • ion transport
  • hearing
  • detection of mechanical stimulus involved in sensory perception of sound
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

222662

328789

Ensembl

ENSG00000197753

ENSMUSG00000062252

UniProt

Q8TAF8

Q4KL25

RefSeq (mRNA)

NM_182548

NM_026571

RefSeq (protein)

NP_872354

NP_080847

Location (UCSC)Chr 6: 35.8 – 35.85 MbChr 17: 28.79 – 28.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Lipoma HMGIC fusion partner-like 5 is a protein that in humans is encoded by the LHFPL5 gene. [5]

Function

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. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000197753 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062252 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Lipoma HMGIC fusion partner-like 5". Retrieved 2016-06-24.

Further reading

  • Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR (2005). "A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice". Proc. Natl. Acad. Sci. U.S.A. 102 (22): 7894–9. Bibcode:2005PNAS..102.7894L. doi:10.1073/pnas.0500760102. PMC 1142366. PMID 15905332.


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This article incorporates text from the United States National Library of Medicine, which is in the public domain.