Protein-coding gene in the species Homo sapiens
LHFPL5 |
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Identifiers |
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Aliases | LHFPL5, DFNB67, TMHS, dJ510O8.8, lipoma HMGIC fusion partner-like 5, LHFPL tetraspan subfamily member 5 |
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External IDs | OMIM: 609427; MGI: 1915382; HomoloGene: 18794; GeneCards: LHFPL5; OMA:LHFPL5 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 6 (human)[1] |
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| Band | 6p21.31 | Start | 35,797,206 bp[1] |
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End | 35,845,397 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 17 (mouse)[2] |
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| Band | 17 A3.3|17 14.77 cM | Start | 28,794,615 bp[2] |
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End | 28,804,653 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| 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
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | | 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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 6: 35.8 – 35.85 Mb | Chr 17: 28.79 – 28.8 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000197753 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062252 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.