Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Tetraspan membrane protein of hair cell stereocilia

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

Complete GO annotation...

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

BioCyciZFISH:G66-31610-MONOMER.

Protein family/group databases

TCDBi1.A.82.1.1. the hair cell mechanotransduction channel (hcmc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Tetraspan membrane protein of hair cell stereocilia
Alternative name(s):
Lipoma HMGIC fusion partner-like 5 protein
Gene namesi
Name:LHFPL5
Synonyms:TMHS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21253. LHFPL5.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 67 (DFNB67)2 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 rs104893975dbSNPEnsembl.1
Natural variantiVAR_032056165T → M in DFNB67. 1 PublicationCorresponds to variant rs104893976dbSNPEnsembl.1
Natural variantiVAR_032057176R → L in DFNB67. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi222662.
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 – 219Tetraspan membrane protein of hair cell stereociliaAdd BLAST219

Proteomic databases

PaxDbiQ8TAF8.
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.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC155Q8N6L05EBI-2820517,EBI-749265
GGT7Q9UJ143EBI-2820517,EBI-1058791

Protein-protein interaction databases

BioGridi128811. 2 interactors.
IntActiQ8TAF8. 3 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.
OMAiYKADGQE.
OrthoDBiEOG091G0H85.
PhylomeDBiQ8TAF8.
TreeFamiTF321143.

Family and domain databases

InterProiIPR019372. Lipome_HGMIC_fus_partner-like.
[Graphical view]
PfamiPF10242. L_HMGIC_fpl. 1 hit.
[Graphical view]

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 rs104893975dbSNPEnsembl.1
Natural variantiVAR_032056165T → M in DFNB67. 1 PublicationCorresponds to variant rs104893976dbSNPEnsembl.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. Translation: CAI21643.1.
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.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK126841 mRNA. Translation: BAG54378.1.
AL157823 Genomic DNA. Translation: CAI21643.1.
BC028630 mRNA. Translation: AAH28630.1.
CCDSiCCDS4812.1.
RefSeqiNP_872354.1. NM_182548.3.
UniGeneiHs.367947.

3D structure databases

ProteinModelPortaliQ8TAF8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128811. 2 interactors.
IntActiQ8TAF8. 3 interactors.
STRINGi9606.ENSP00000353346.

Protein family/group databases

TCDBi1.A.82.1.1. the hair cell mechanotransduction channel (hcmc) family.

Polymorphism and mutation databases

BioMutaiLHFPL5.
DMDMi74751349.

Proteomic databases

PaxDbiQ8TAF8.
PRIDEiQ8TAF8.

Protocols and materials databases

DNASUi222662.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi222662.
DisGeNETi222662.
GeneCardsiLHFPL5.
GeneReviewsiLHFPL5.
HGNCiHGNC:21253. LHFPL5.
HPAiHPA055110.
MalaCardsiLHFPL5.
MIMi609427. gene.
610265. phenotype.
neXtProtiNX_Q8TAF8.
OpenTargetsiENSG00000197753.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA134943389.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4026. Eukaryota.
ENOG410XSUB. LUCA.
GeneTreeiENSGT00550000074479.
HOGENOMiHOG000294163.
HOVERGENiHBG056723.
InParanoidiQ8TAF8.
OMAiYKADGQE.
OrthoDBiEOG091G0H85.
PhylomeDBiQ8TAF8.
TreeFamiTF321143.

Enzyme and pathway databases

BioCyciZFISH:G66-31610-MONOMER.

Miscellaneous databases

GenomeRNAii222662.
PROiQ8TAF8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197753.
CleanExiHS_LHFPL5.
GenevisibleiQ8TAF8. HS.

Family and domain databases

InterProiIPR019372. Lipome_HGMIC_fus_partner-like.
[Graphical view]
PfamiPF10242. L_HMGIC_fpl. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTMHS_HUMAN
AccessioniPrimary (citable) accession number: Q8TAF8
Secondary accession number(s): B3KX66
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: June 1, 2002
Last modified: November 30, 2016
This is version 111 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.