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Protein

LHFPL tetraspan subfamily member 5 protein

Gene

LHFPL5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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.

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 Publication1
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. 2 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. Lipome_HGMIC_fus_partner-like.
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 Publication1
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: November 22, 2017
This is version 118 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

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families