LHFPL5

Protein identityUniProt · HPA

UniProt accession

Q8TAF8

Gene

LHFPL5

Ensembl

ENSG00000197753

Chromosome

6

Canonical length

219 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

Subcellular location

Vesicles

OverviewNCBI 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. 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. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

219 residues, UniProt reviewed canonical sequence.

>Q8TAF8|LHFPL5
     1  MVKLLPAQEA AKIYHTNYVR NSRAVGVMWG TLTICFSVLV MALFIQPYWI GDSVNTPQAG
    61  YFGLFSYCVG NVLSSELICK GGPLDFSSIP SRAFKTAMFF VALGMFLIIG SIICFSLFFI
   121  CNTATVYKIC AWMQLAAATG LMIGCLVYPD GWDSSEVRRM CGEQTGKYTL GHCTIRWAFM
   181  LAILSIGDAL ILSFLAFVLG YRQDKLLPDD YKADGTEEV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LHFPL5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

17 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LHFPL5.

Disease | AllUniProt

Conditions LHFPL5 is implicated in, by any mechanism.

• Deafness, autosomal recessive, 67 (DFNB67) MIM:610265

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 184 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 67
• Hearing loss, autosomal recessive
• Ear malformation
• Autosomal recessive non-syndromic intellectual disability
• Deafness

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.43

gnomAD pLI

0

gnomAD missense Z

0.3

DepMap mean gene effect

-0.09

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• auditory receptor cell stereocilium organization
• detection of mechanical stimulus involved in sensory perception
• detection of mechanical stimulus involved in sensory perception of sound
• monoatomic ion transport
• sensory perception of sound

Cellular components

• apical plasma membrane
• plasma membrane
• stereocilium tip

Protein domainsUniProt · Pfam · InterPro

• Lipoma HMGIC fusion partner-like protein
• Lipoma HMGIC fusion partner-like protein

KeywordsUniProt

• Cell membrane
• Deafness
• Ion transport
• Membrane
• Non-syndromic deafness
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of LHFPL5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TOMT
• GGT7