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Q8NEW7 (TMIE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane inner ear expressed protein
Gene names
Name:TMIE
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length156 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Unknown. The protein may play some role in a cellular membrane location. May reside within an internal membrane compartment and function in pathways such as those involved in protein and/or vesicle trafficking. Alternatively, the mature protein may be localized in the plasma membrane and serve as a site of interaction for other molecules through its highly charged C-terminal domain.

Subcellular location

Membrane; Single-pass type I membrane protein Potential.

Tissue specificity

Expressed in many tissues. Ref.1

Involvement in disease

Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971]: 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.1

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2727 Potential
Chain28 – 156129Transmembrane inner ear expressed protein
PRO_0000022555

Regions

Topological domain28 – 5730Extracellular Potential
Transmembrane58 – 7821Helical; Potential
Topological domain79 – 15678Cytoplasmic Potential
Compositional bias123 – 15634Lys-rich

Natural variations

Natural variant811R → C in DFNB6. Ref.1
Corresponds to variant rs28942096 [ dbSNP | Ensembl ].
VAR_021524
Natural variant841R → W in DFNB6. Ref.1
Corresponds to variant rs28942097 [ dbSNP | Ensembl ].
VAR_021525
Natural variant921R → W in DFNB6. Ref.1
Corresponds to variant rs28941781 [ dbSNP | Ensembl ].
VAR_021526

Experimental info

Sequence conflict1311Missing in AAL89820. Ref.1
Sequence conflict1311Missing in AAI26259. Ref.4
Sequence conflict1311Missing in AAI26261. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q8NEW7 [UniParc].

Last modified November 4, 2008. Version 2.
Checksum: 457DC5D0C5F66F03

FASTA15617,241
        10         20         30         40         50         60 
MAGWPGAGPL CVLGGAALGV CLAGVAGQLV EPSTAPPKPK PPPLTKETVV FWDMRLWHVV 

        70         80         90        100        110        120 
GIFSLFVLSI IITLCCVFNC RVPRTRKEIE ARYLQRKAAK MYTDKLETVP PLNELTEVPG 

       130        140        150 
EDKKKKKKKK KDSVDTVAIK VEEDEKNEAK KKKGEK 

« Hide

References

« Hide 'large scale' references
[1]"Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus."
Naz S., Giguere C.M., Kohrman D.C., Mitchem K.L., Riazuddin S., Morell R.J., Ramesh A., Srisailpathy S., Deshmukh D., Riazuddin S., Griffith A.J., Friedman T.B., Smith R.J.H., Wilcox E.R.
Am. J. Hum. Genet. 71:632-636(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS DFNB6 CYS-81; TRP-84 AND TRP-92.
[2]"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. expand/collapse author list , 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.
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY081842 mRNA. Translation: AAL89820.1.
AK289625 mRNA. Translation: BAF82314.1.
CH471055 Genomic DNA. Translation: EAW64781.1.
BC126258 mRNA. Translation: AAI26259.1.
BC126260 mRNA. Translation: AAI26261.1.
RefSeqNP_671729.2. NM_147196.2.
UniGeneHs.185777.

3D structure databases

ProteinModelPortalQ8NEW7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000324775.

Protein family/group databases

TCDB9.A.30.1.2. the putative tmie gentamiein uptake mechanosensitive channel (tmie) family.

PTM databases

PhosphoSiteQ8NEW7.

Polymorphism databases

DMDM212276469.

Proteomic databases

PaxDbQ8NEW7.
PRIDEQ8NEW7.

Protocols and materials databases

DNASU259236.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000326431; ENSP00000324775; ENSG00000181585.
GeneID259236.
KEGGhsa:259236.
UCSCuc010hjk.1. human.

Organism-specific databases

CTD259236.
GeneCardsGC03P046717.
H-InvDBHIX0030769.
HGNCHGNC:30800. TMIE.
HPAHPA038298.
MIM600971. phenotype.
607237. gene.
neXtProtNX_Q8NEW7.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBPA134972473.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41940.
HOGENOMHOG000060175.
HOVERGENHBG079268.
InParanoidQ8NEW7.
OMARGAGPLW.
OrthoDBEOG79PJS0.
PhylomeDBQ8NEW7.
TreeFamTF332314.

Gene expression databases

BgeeQ8NEW7.
CleanExHS_TMIE.
GenevestigatorQ8NEW7.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi259236.
NextBio93074.
PROQ8NEW7.
SOURCESearch...

Entry information

Entry nameTMIE_HUMAN
AccessionPrimary (citable) accession number: Q8NEW7
Secondary accession number(s): A0AV93, A8K0R0
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: November 4, 2008
Last modified: February 19, 2014
This is version 80 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM