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Protein

LHFPL tetraspan subfamily member 5 protein

Gene

LHFPL5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation (By similarity).By similarity

GO - Biological processi

Keywordsi

Biological processIon transport, Transport

Protein family/group databases

TCDBi1.A.82.1.1 the lhfpl tetraspan protein (ltsp) family

Names & Taxonomyi

Protein namesi
Recommended name:
LHFPL tetraspan subfamily member 5 proteinImported
Alternative name(s):
Lipoma HMGIC fusion partner-like 5 proteinImported
Tetraspan membrane protein of hair cell stereociliaBy similarity
Gene namesi
Name:LHFPL5Imported
Synonyms:TMHSBy similarity
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000197753.8
HGNCiHGNC:21253 LHFPL5
MIMi609427 gene
neXtProtiNX_Q8TAF8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 24CytoplasmicSequence analysisAdd BLAST24
Transmembranei25 – 45HelicalSequence analysisAdd BLAST21
Topological domaini46 – 99ExtracellularSequence analysisAdd BLAST54
Transmembranei100 – 120HelicalSequence analysisAdd BLAST21
Topological domaini121 – 128CytoplasmicSequence analysis8
Transmembranei129 – 149HelicalSequence analysisAdd BLAST21
Topological domaini150 – 178ExtracellularSequence analysisAdd BLAST29
Transmembranei179 – 199HelicalSequence analysisAdd BLAST21
Topological domaini200 – 219CytoplasmicSequence analysisAdd BLAST20

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 67 (DFNB67)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:610265
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032055127Y → C in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs104893975Ensembl.1
Natural variantiVAR_079038158R → W in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs753739358Ensembl.1
Natural variantiVAR_032056165T → M in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs104893976Ensembl.1
Natural variantiVAR_032057176R → L in DFNB67. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi222662
GeneReviewsiLHFPL5
MalaCardsiLHFPL5
MIMi610265 phenotype
OpenTargetsiENSG00000197753
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA134943389

Polymorphism and mutation databases

BioMutaiLHFPL5
DMDMi74751349

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002859221 – 219LHFPL tetraspan subfamily member 5 proteinAdd BLAST219

Proteomic databases

PaxDbiQ8TAF8
PeptideAtlasiQ8TAF8
PRIDEiQ8TAF8

Expressioni

Gene expression databases

BgeeiENSG00000197753
CleanExiHS_LHFPL5
GenevisibleiQ8TAF8 HS

Organism-specific databases

HPAiHPA055110

Interactioni

Subunit structurei

Found in a complex with TMIE and PCDH15. Interacts with PCDH15; this interaction is required for efficient localization to hair bundles. Interacts with TOMT.By similarity

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi128811, 3 interactors
IntActiQ8TAF8, 6 interactors
STRINGi9606.ENSP00000353346

Structurei

3D structure databases

ProteinModelPortaliQ8TAF8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the LHFP family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4026 Eukaryota
ENOG410XSUB LUCA
GeneTreeiENSGT00550000074479
HOGENOMiHOG000294163
HOVERGENiHBG056723
InParanoidiQ8TAF8
OMAiYWIGDSI
OrthoDBiEOG091G0H85
PhylomeDBiQ8TAF8
TreeFamiTF321143

Family and domain databases

InterProiView protein in InterPro
IPR019372 LHFPL
PANTHERiPTHR12489 PTHR12489, 1 hit
PfamiView protein in Pfam
PF10242 L_HMGIC_fpl, 1 hit

Sequencei

Sequence statusi: Complete.

Q8TAF8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVKLLPAQEA AKIYHTNYVR NSRAVGVMWG TLTICFSVLV MALFIQPYWI
60 70 80 90 100
GDSVNTPQAG YFGLFSYCVG NVLSSELICK GGPLDFSSIP SRAFKTAMFF
110 120 130 140 150
VALGMFLIIG SIICFSLFFI CNTATVYKIC AWMQLAAATG LMIGCLVYPD
160 170 180 190 200
GWDSSEVRRM CGEQTGKYTL GHCTIRWAFM LAILSIGDAL ILSFLAFVLG
210
YRQDKLLPDD YKADGTEEV
Length:219
Mass (Da):24,201
Last modified:June 1, 2002 - v1
Checksum:i1972C1A8F0FAE545
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti4L → M in BAG54378 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032055127Y → C in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs104893975Ensembl.1
Natural variantiVAR_079038158R → W in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs753739358Ensembl.1
Natural variantiVAR_032056165T → M in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs104893976Ensembl.1
Natural variantiVAR_032057176R → L in DFNB67. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK126841 mRNA Translation: BAG54378.1
AL157823 Genomic DNA No translation available.
BC028630 mRNA Translation: AAH28630.1
CCDSiCCDS4812.1
RefSeqiNP_872354.1, NM_182548.3
UniGeneiHs.367947

Genome annotation databases

EnsembliENST00000360215; ENSP00000353346; ENSG00000197753
GeneIDi222662
KEGGihsa:222662
UCSCiuc003olg.2 human

Similar proteinsi

Entry informationi

Entry nameiLHPL5_HUMAN
AccessioniPrimary (citable) accession number: Q8TAF8
Secondary accession number(s): B3KX66
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: June 1, 2002
Last modified: April 25, 2018
This is version 121 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health