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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

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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2424CytoplasmicSequence analysisAdd
BLAST
Transmembranei25 – 4521HelicalSequence analysisAdd
BLAST
Topological domaini46 – 9954ExtracellularSequence analysisAdd
BLAST
Transmembranei100 – 12021HelicalSequence analysisAdd
BLAST
Topological domaini121 – 1288CytoplasmicSequence analysis
Transmembranei129 – 14921HelicalSequence analysisAdd
BLAST
Topological domaini150 – 17829ExtracellularSequence analysisAdd
BLAST
Transmembranei179 – 19921HelicalSequence analysisAdd
BLAST
Topological domaini200 – 21920CytoplasmicSequence analysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti127 – 1271Y → C in DFNB67. 1 Publication
VAR_032055
Natural varianti165 – 1651T → M in DFNB67. 1 Publication
VAR_032056
Natural varianti176 – 1761R → L in DFNB67. 1 Publication
VAR_032057

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

MalaCardsiLHFPL5.
MIMi610265. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA134943389.

Polymorphism and mutation databases

BioMutaiLHFPL5.
DMDMi74751349.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 219219Tetraspan membrane protein of hair cell stereociliaPRO_0000285922Add
BLAST

Proteomic databases

PaxDbiQ8TAF8.
PRIDEiQ8TAF8.

Expressioni

Gene expression databases

BgeeiQ8TAF8.
CleanExiHS_LHFPL5.
GenevisibleiQ8TAF8. HS.

Organism-specific databases

HPAiHPA055110.

Interactioni

Subunit structurei

Interacts with PCDH15; this interaction is required for efficient localization to hair bundles.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC155Q8N6L03EBI-2820517,EBI-749265
GGT7Q9UJ143EBI-2820517,EBI-1058791

Protein-protein interaction databases

BioGridi128811. 2 interactions.
IntActiQ8TAF8. 3 interactions.
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.
OMAiCFSILMV.
OrthoDBiEOG7X6M0W.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti4 – 41L → M in BAG54378 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti127 – 1271Y → C in DFNB67. 1 Publication
VAR_032055
Natural varianti165 – 1651T → M in DFNB67. 1 Publication
VAR_032056
Natural varianti176 – 1761R → L in DFNB67. 1 Publication
VAR_032057

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.
XP_011512705.1. XM_011514403.1.
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.
XP_011512705.1. XM_011514403.1.
UniGeneiHs.367947.

3D structure databases

ProteinModelPortaliQ8TAF8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128811. 2 interactions.
IntActiQ8TAF8. 3 interactions.
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.
GeneCardsiLHFPL5.
GeneReviewsiLHFPL5.
HGNCiHGNC:21253. LHFPL5.
HPAiHPA055110.
MalaCardsiLHFPL5.
MIMi609427. gene.
610265. phenotype.
neXtProtiNX_Q8TAF8.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA134943389.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4026. Eukaryota.
ENOG410XSUB. LUCA.
GeneTreeiENSGT00550000074479.
HOGENOMiHOG000294163.
HOVERGENiHBG056723.
InParanoidiQ8TAF8.
OMAiCFSILMV.
OrthoDBiEOG7X6M0W.
PhylomeDBiQ8TAF8.
TreeFamiTF321143.

Miscellaneous databases

GenomeRNAii222662.
PROiQ8TAF8.
SOURCEiSearch...

Gene expression databases

BgeeiQ8TAF8.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Amygdala.
  2. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  4. Cited for: VARIANTS DFNB67 MET-165 AND LEU-176.
  5. Cited for: VARIANT DFNB67 CYS-127.

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: June 8, 2016
This is version 106 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.