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Protein

Transmembrane inner ear expressed protein

Gene

TMIE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

Protein family/group databases

TCDBi9.A.30.1.2 the putative tmie gentamiein uptake mechanosensitive channel (tmie) family

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane inner ear expressed protein
Gene namesi
Name:TMIE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000181585.3
HGNCiHGNC:30800 TMIE
MIMi607237 gene
neXtProtiNX_Q8NEW7

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini28 – 57ExtracellularSequence analysisAdd BLAST30
Transmembranei58 – 78HelicalSequence analysisAdd BLAST21
Topological domaini79 – 156CytoplasmicSequence analysisAdd BLAST78

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 6 (DFNB6)1 Publication
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:600971
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02152481R → C in DFNB6. 1 PublicationCorresponds to variant dbSNP:rs28942096EnsemblClinVar.1
Natural variantiVAR_02152584R → W in DFNB6. 1 PublicationCorresponds to variant dbSNP:rs28942097EnsemblClinVar.1
Natural variantiVAR_02152692R → W in DFNB6. 1 PublicationCorresponds to variant dbSNP:rs28941781EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi259236
GeneReviewsiTMIE
MalaCardsiTMIE
MIMi600971 phenotype
OpenTargetsiENSG00000181585
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA134972473

Polymorphism and mutation databases

BioMutaiTMIE
DMDMi212276469

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
ChainiPRO_000002255528 – 156Transmembrane inner ear expressed proteinAdd BLAST129

Proteomic databases

PaxDbiQ8NEW7
PRIDEiQ8NEW7
ProteomicsDBi73225

PTM databases

iPTMnetiQ8NEW7
PhosphoSitePlusiQ8NEW7

Expressioni

Tissue specificityi

Expressed in many tissues.1 Publication

Gene expression databases

BgeeiENSG00000181585
CleanExiHS_TMIE
GenevisibleiQ8NEW7 HS

Organism-specific databases

HPAiHPA038298

Interactioni

Subunit structurei

Interacts with TOMT.By similarity

Protein-protein interaction databases

BioGridi129230, 3 interactors
STRINGi9606.ENSP00000324775

Structurei

3D structure databases

ProteinModelPortaliQ8NEW7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi123 – 156Lys-richAdd BLAST34

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IYQZ Eukaryota
ENOG4111RFP LUCA
GeneTreeiENSGT00390000005082
HOGENOMiHOG000060175
HOVERGENiHBG079268
InParanoidiQ8NEW7
OMAiCCIFNCR
OrthoDBiEOG091G188E
PhylomeDBiQ8NEW7
TreeFamiTF332314

Family and domain databases

InterProiView protein in InterPro
IPR032006 TMIE
PANTHERiPTHR28635 PTHR28635, 1 hit
PfamiView protein in Pfam
PF16038 TMIE, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8NEW7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAGWPGAGPL CVLGGAALGV CLAGVAGQLV EPSTAPPKPK PPPLTKETVV
60 70 80 90 100
FWDMRLWHVV GIFSLFVLSI IITLCCVFNC RVPRTRKEIE ARYLQRKAAK
110 120 130 140 150
MYTDKLETVP PLNELTEVPG EDKKKKKKKK KDSVDTVAIK VEEDEKNEAK

KKKGEK
Length:156
Mass (Da):17,241
Last modified:November 4, 2008 - v2
Checksum:i457DC5D0C5F66F03
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti131Missing in AAL89820 (PubMed:12145746).Curated1
Sequence conflicti131Missing in AAI26259 (PubMed:15489334).Curated1
Sequence conflicti131Missing in AAI26261 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02152481R → C in DFNB6. 1 PublicationCorresponds to variant dbSNP:rs28942096EnsemblClinVar.1
Natural variantiVAR_02152584R → W in DFNB6. 1 PublicationCorresponds to variant dbSNP:rs28942097EnsemblClinVar.1
Natural variantiVAR_02152692R → W in DFNB6. 1 PublicationCorresponds to variant dbSNP:rs28941781EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS43081.1
RefSeqiNP_671729.2, NM_147196.2
UniGeneiHs.185777

Genome annotation databases

EnsembliENST00000326431; ENSP00000324775; ENSG00000181585
ENST00000643606; ENSP00000494576; ENSG00000181585
GeneIDi259236
KEGGihsa:259236
UCSCiuc010hjk.2 human

Similar proteinsi

Entry informationi

Entry nameiTMIE_HUMAN
AccessioniPrimary (citable) accession number: Q8NEW7
Secondary accession number(s): A0AV93, A8K0R0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: November 4, 2008
Last modified: June 20, 2018
This is version 103 of the entry and version 2 of the sequence. See 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 3
    Human chromosome 3: 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

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