Q8TAF8 (TMHS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Tetraspan membrane protein of hair cell stereocilia

Alternative name(s):
Lipoma HMGIC fusion partner-like 5 protein

Gene names

Name:	LHFPL5
Synonyms:	TMHS

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	219 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May function in hair bundle morphogenesis By similarity.
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Involvement in disease	Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.4
Sequence similarities	Belongs to the LHFP family.

Ontologies

Keywords
Cellular component	Membrane
Disease	Deafness Disease mutation Non-syndromic deafness
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	auditory receptor cell stereocilium organization Inferred from electronic annotation. Source: Compara sensory perception of sound Inferred from electronic annotation. Source: Compara
Cellular_component	apical plasma membrane Inferred from electronic annotation. Source: Compara integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 219	219	Tetraspan membrane protein of hair cell stereocilia		PRO_0000285922
Regions
	Transmembrane	25 – 45	21	Helical; Potential
	Transmembrane	59 – 79	21	Helical; Potential
	Transmembrane	100 – 120	21	Helical; Potential
	Transmembrane	129 – 149	21	Helical; Potential
	Transmembrane	179 – 199	21	Helical; Potential
Natural variations
	Natural variant	127	1	Y → C in DFNB67. Ref.4		VAR_032055
	Natural variant	165	1	T → M in DFNB67. Ref.3		VAR_032056
	Natural variant	176	1	R → L in DFNB67. Ref.3		VAR_032057

Sequences

	Sequence		Length	Mass (Da)
	Q8TAF8 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: 1972C1A8F0FAE545	FASTA	219	24,201
	10 20 30 40 50 60 MVKLLPAQEA AKIYHTNYVR NSRAVGVMWG TLTICFSVLV MALFIQPYWI GDSVNTPQAG 70 80 90 100 110 120 YFGLFSYCVG NVLSSELICK GGPLDFSSIP SRAFKTAMFF VALGMFLIIG SIICFSLFFI 130 140 150 160 170 180 CNTATVYKIC AWMQLAAATG LMIGCLVYPD GWDSSEVRRM CGEQTGKYTL GHCTIRWAFM 190 200 210 LAILSIGDAL ILSFLAFVLG YRQDKLLPDD YKADGTEEV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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].
[2]	"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.
[3]	"Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss." Kalay E., Li Y., Uzumcu A., Uyguner O., Collin R.W., Caylan R., Ulubil-Emiroglu M., Kersten F.F.J., Hafiz G., van Wijk E., Kayserili H., Rohmann E., Wagenstaller J., Hoefsloot L.H., Strom T.M., Nuernberg G., Baserer N., den Hollander A.I. , Cremers F.P.M., Cremers C.W.R.J., Becker C., Brunner H.G., Nuernberg P., Karaguzel A., Basaran S., Kubisch C., Kremer H., Wollnik B. Hum. Mutat. 27:633-639(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DFNB67 MET-165 AND LEU-176.
[4]	"Mutations of human TMHS cause recessively inherited non-syndromic hearing loss." Shabbir M.I., Ahmed Z.M., Khan S.Y., Riazuddin S., Waryah A.M., Khan S.N., Camps R.D., Ghosh M., Kabra M., Belyantseva I.A., Friedman T.B., Riazuddin S. J. Med. Genet. 43:634-640(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DFNB67 CYS-127.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	BC028630 mRNA. Translation: AAH28630.1. AL157823 Genomic DNA. Translation: CAI21643.1.
IPI	IPI00290403.
RefSeq	NP_872354.1. NM_182548.3.
UniGene	Hs.367947.
3D structure databases
ProteinModelPortal	Q8TAF8.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8TAF8. 1 interaction.
STRING	9606.ENSP00000353346.
Polymorphism databases
DMDM	74751349.
Proteomic databases
PaxDb	Q8TAF8.
PRIDE	Q8TAF8.
Protocols and materials databases
DNASU	222662.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000360215; ENSP00000353346; ENSG00000197753. ENST00000373853; ENSP00000362960; ENSG00000197753.
GeneID	222662.
KEGG	hsa:222662.
UCSC	uc003olg.1. human.
Organism-specific databases
CTD	222662.
GeneCards	GC06P035773.
HGNC	HGNC:21253. LHFPL5.
HPA	HPA055110.
MIM	609427. gene. 610265. phenotype.
neXtProt	NX_Q8TAF8.
Orphanet	90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKB	PA134943389.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG240753.
HOGENOM	HOG000294163.
HOVERGEN	HBG056723.
InParanoid	Q8TAF8.
OMA	VKRMCGD.
OrthoDB	EOG4CRM12.
PhylomeDB	Q8TAF8.
Gene expression databases
Bgee	Q8TAF8.
CleanEx	HS_LHFPL5.
Genevestigator	Q8TAF8.
Family and domain databases
InterPro	IPR019372. Lipome_HGMIC_fus_partner-like. [Graphical view]
Pfam	PF10242. L_HGMIC_fpl. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	222662.
NextBio	91655.
SOURCE	Search...

Entry information

Entry name

TMHS_HUMAN

Accession

Primary (citable) accession number: Q8TAF8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 1, 2007
Last sequence update:	June 1, 2002
Last modified:	May 1, 2013
This is version 80 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.