UniProtKB - Q8TAF8 (LHPL5_HUMAN)
Protein
LHFPL tetraspan subfamily member 5 protein
Gene
LHFPL5
Organism
Homo sapiens (Human)
Status
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
- auditory receptor cell stereocilium organization Source: Ensembl
- detection of mechanical stimulus involved in sensory perception Source: GO_Central
- detection of mechanical stimulus involved in sensory perception of sound Source: Ensembl
- ion transport Source: UniProtKB-KW
- sensory perception of sound Source: GO_Central
Keywordsi
Biological process | Ion transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q8TAF8 |
SIGNORi | Q8TAF8 |
Protein family/group databases
TCDBi | 1.A.82.1.1, the lhfpl tetraspan protein (ltsp) family |
Names & Taxonomyi
Protein namesi | Recommended name: LHFPL tetraspan subfamily member 5 proteinImportedAlternative name(s): Lipoma HMGIC fusion partner-like 5 proteinImported Tetraspan membrane protein of hair cell stereociliaBy similarity |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:21253, LHFPL5 |
MIMi | 609427, gene |
neXtProti | NX_Q8TAF8 |
VEuPathDBi | HostDB:ENSG00000197753.8 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein Sequence analysis
Note: Efficient localization to the plasma membrane requires the presence of PCDH15.By similarity
Plasma Membrane
- apical plasma membrane Source: Ensembl
- plasma membrane Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: GO_Central
- stereocilium tip Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 24 | CytoplasmicSequence analysisAdd BLAST | 24 | |
Transmembranei | 25 – 45 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 46 – 99 | ExtracellularSequence analysisAdd BLAST | 54 | |
Transmembranei | 100 – 120 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 121 – 128 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 129 – 149 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 150 – 178 | ExtracellularSequence analysisAdd BLAST | 29 | |
Transmembranei | 179 – 199 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 200 – 219 | CytoplasmicSequence analysisAdd BLAST | 20 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Deafness, autosomal recessive, 67 (DFNB67)4 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032055 | 127 | Y → C in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs104893975EnsemblClinVar. | 1 | |
Natural variantiVAR_079038 | 158 | R → W in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs753739358EnsemblClinVar. | 1 | |
Natural variantiVAR_032056 | 165 | T → M in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs104893976EnsemblClinVar. | 1 | |
Natural variantiVAR_032057 | 176 | R → L in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs774466373Ensembl. | 1 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 222662 |
GeneReviewsi | LHFPL5 |
MalaCardsi | LHFPL5 |
MIMi | 610265, phenotype |
OpenTargetsi | ENSG00000197753 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA134943389 |
Miscellaneous databases
Pharosi | Q8TAF8, Tbio |
Genetic variation databases
BioMutai | LHFPL5 |
DMDMi | 74751349 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000285922 | 1 – 219 | LHFPL tetraspan subfamily member 5 proteinAdd BLAST | 219 |
Proteomic databases
PaxDbi | Q8TAF8 |
PRIDEi | Q8TAF8 |
ProteomicsDBi | 73878 |
Expressioni
Gene expression databases
Bgeei | ENSG00000197753, Expressed in body of pancreas and 51 other tissues |
ExpressionAtlasi | Q8TAF8, baseline and differential |
Genevisiblei | Q8TAF8, HS |
Organism-specific databases
HPAi | ENSG00000197753, Group enriched (bone marrow, brain, epididymis, pancreas) |
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 similarityBinary interactionsi
Q8TAF8
Protein-protein interaction databases
BioGRIDi | 128811, 127 interactors |
IntActi | Q8TAF8, 125 interactors |
STRINGi | 9606.ENSP00000353346 |
Miscellaneous databases
RNActi | Q8TAF8, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the LHFP family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4026, Eukaryota |
GeneTreei | ENSGT00990000203541 |
HOGENOMi | CLU_084868_1_2_1 |
InParanoidi | Q8TAF8 |
OMAi | WIVFTIT |
OrthoDBi | 1219117at2759 |
PhylomeDBi | Q8TAF8 |
TreeFami | TF321143 |
Family and domain databases
InterProi | View protein in InterPro IPR019372, LHFPL |
PANTHERi | PTHR12489, PTHR12489, 1 hit |
Pfami | View protein in Pfam PF10242, L_HMGIC_fpl, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q8TAF8-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A494C136 | A0A494C136_HUMAN | LHFPL tetraspan subfamily member 5 ... | LHFPL5 | 163 | Annotation score: | ||
A0A494BZZ7 | A0A494BZZ7_HUMAN | LHFPL tetraspan subfamily member 5 ... | LHFPL5 | 153 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 4 | L → M in BAG54378 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032055 | 127 | Y → C in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs104893975EnsemblClinVar. | 1 | |
Natural variantiVAR_079038 | 158 | R → W in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs753739358EnsemblClinVar. | 1 | |
Natural variantiVAR_032056 | 165 | T → M in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs104893976EnsemblClinVar. | 1 | |
Natural variantiVAR_032057 | 176 | R → L in DFNB67. 1 PublicationCorresponds to variant dbSNP:rs774466373Ensembl. | 1 |
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 |
CCDSi | CCDS4812.1 |
RefSeqi | NP_872354.1, NM_182548.3 |
Genome annotation databases
Ensembli | ENST00000360215; ENSP00000353346; ENSG00000197753 ENST00000651132; ENSP00000498322; ENSG00000197753 ENST00000651676; ENSP00000498699; ENSG00000197753 |
GeneIDi | 222662 |
KEGGi | hsa:222662 |
UCSCi | uc003olg.2, human |
Similar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS4812.1 |
RefSeqi | NP_872354.1, NM_182548.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 128811, 127 interactors |
IntActi | Q8TAF8, 125 interactors |
STRINGi | 9606.ENSP00000353346 |
Protein family/group databases
TCDBi | 1.A.82.1.1, the lhfpl tetraspan protein (ltsp) family |
Genetic variation databases
BioMutai | LHFPL5 |
DMDMi | 74751349 |
Proteomic databases
PaxDbi | Q8TAF8 |
PRIDEi | Q8TAF8 |
ProteomicsDBi | 73878 |
Protocols and materials databases
Antibodypediai | 55280, 86 antibodies |
DNASUi | 222662 |
Genome annotation databases
Ensembli | ENST00000360215; ENSP00000353346; ENSG00000197753 ENST00000651132; ENSP00000498322; ENSG00000197753 ENST00000651676; ENSP00000498699; ENSG00000197753 |
GeneIDi | 222662 |
KEGGi | hsa:222662 |
UCSCi | uc003olg.2, human |
Organism-specific databases
CTDi | 222662 |
DisGeNETi | 222662 |
GeneCardsi | LHFPL5 |
GeneReviewsi | LHFPL5 |
HGNCi | HGNC:21253, LHFPL5 |
HPAi | ENSG00000197753, Group enriched (bone marrow, brain, epididymis, pancreas) |
MalaCardsi | LHFPL5 |
MIMi | 609427, gene 610265, phenotype |
neXtProti | NX_Q8TAF8 |
OpenTargetsi | ENSG00000197753 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA134943389 |
VEuPathDBi | HostDB:ENSG00000197753.8 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4026, Eukaryota |
GeneTreei | ENSGT00990000203541 |
HOGENOMi | CLU_084868_1_2_1 |
InParanoidi | Q8TAF8 |
OMAi | WIVFTIT |
OrthoDBi | 1219117at2759 |
PhylomeDBi | Q8TAF8 |
TreeFami | TF321143 |
Enzyme and pathway databases
PathwayCommonsi | Q8TAF8 |
SIGNORi | Q8TAF8 |
Miscellaneous databases
BioGRID-ORCSi | 222662, 9 hits in 924 CRISPR screens |
ChiTaRSi | LHFPL5, human |
GenomeRNAii | 222662 |
Pharosi | Q8TAF8, Tbio |
PROi | PR:Q8TAF8 |
RNActi | Q8TAF8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000197753, Expressed in body of pancreas and 51 other tissues |
ExpressionAtlasi | Q8TAF8, baseline and differential |
Genevisiblei | Q8TAF8, HS |
Family and domain databases
InterProi | View protein in InterPro IPR019372, LHFPL |
PANTHERi | PTHR12489, PTHR12489, 1 hit |
Pfami | View protein in Pfam PF10242, L_HMGIC_fpl, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LHPL5_HUMAN | |
Accessioni | Q8TAF8Primary (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: | April 7, 2021 | |
This is version 142 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families