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Protein

Transmembrane inner ear expressed protein

Gene

TMIE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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.

GO - Biological processi

Complete GO annotation...

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

HGNCiHGNC:30800. TMIE.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini28 – 5730ExtracellularSequence analysisAdd
BLAST
Transmembranei58 – 7821HelicalSequence analysisAdd
BLAST
Topological domaini79 – 15678CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti81 – 811R → C in DFNB6. 1 Publication
Corresponds to variant rs28942096 [ dbSNP | Ensembl ].
VAR_021524
Natural varianti84 – 841R → W in DFNB6. 1 Publication
Corresponds to variant rs28942097 [ dbSNP | Ensembl ].
VAR_021525
Natural varianti92 – 921R → W in DFNB6. 1 Publication
Corresponds to variant rs28941781 [ dbSNP | Ensembl ].
VAR_021526

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

MalaCardsiTMIE.
MIMi600971. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA134972473.

Polymorphism and mutation databases

BioMutaiTMIE.
DMDMi212276469.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727Sequence analysisAdd
BLAST
Chaini28 – 156129Transmembrane inner ear expressed proteinPRO_0000022555Add
BLAST

Proteomic databases

PaxDbiQ8NEW7.
PRIDEiQ8NEW7.

PTM databases

iPTMnetiQ8NEW7.
PhosphoSiteiQ8NEW7.

Expressioni

Tissue specificityi

Expressed in many tissues.1 Publication

Gene expression databases

BgeeiQ8NEW7.
CleanExiHS_TMIE.
GenevisibleiQ8NEW7. HS.

Organism-specific databases

HPAiHPA038298.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000324775.

Structurei

3D structure databases

ProteinModelPortaliQ8NEW7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi123 – 15634Lys-richAdd
BLAST

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IYQZ. Eukaryota.
ENOG4111RFP. LUCA.
GeneTreeiENSGT00390000005082.
HOGENOMiHOG000060175.
HOVERGENiHBG079268.
InParanoidiQ8NEW7.
OMAiCCIFNCR.
OrthoDBiEOG79PJS0.
PhylomeDBiQ8NEW7.
TreeFamiTF332314.

Family and domain databases

InterProiIPR032006. TMIE.
[Graphical view]
PfamiPF16038. TMIE. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti131 – 1311Missing in AAL89820 (PubMed:12145746).Curated
Sequence conflicti131 – 1311Missing in AAI26259 (PubMed:15489334).Curated
Sequence conflicti131 – 1311Missing in AAI26261 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti81 – 811R → C in DFNB6. 1 Publication
Corresponds to variant rs28942096 [ dbSNP | Ensembl ].
VAR_021524
Natural varianti84 – 841R → W in DFNB6. 1 Publication
Corresponds to variant rs28942097 [ dbSNP | Ensembl ].
VAR_021525
Natural varianti92 – 921R → W in DFNB6. 1 Publication
Corresponds to variant rs28941781 [ dbSNP | Ensembl ].
VAR_021526

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.
GeneIDi259236.
KEGGihsa:259236.
UCSCiuc010hjk.2. human.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8NEW7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000324775.

Protein family/group databases

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

PTM databases

iPTMnetiQ8NEW7.
PhosphoSiteiQ8NEW7.

Polymorphism and mutation databases

BioMutaiTMIE.
DMDMi212276469.

Proteomic databases

PaxDbiQ8NEW7.
PRIDEiQ8NEW7.

Protocols and materials databases

DNASUi259236.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi259236.
GeneCardsiTMIE.
GeneReviewsiTMIE.
H-InvDBHIX0030769.
HGNCiHGNC:30800. TMIE.
HPAiHPA038298.
MalaCardsiTMIE.
MIMi600971. phenotype.
607237. gene.
neXtProtiNX_Q8NEW7.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA134972473.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IYQZ. Eukaryota.
ENOG4111RFP. LUCA.
GeneTreeiENSGT00390000005082.
HOGENOMiHOG000060175.
HOVERGENiHBG079268.
InParanoidiQ8NEW7.
OMAiCCIFNCR.
OrthoDBiEOG79PJS0.
PhylomeDBiQ8NEW7.
TreeFamiTF332314.

Miscellaneous databases

GenomeRNAii259236.
PROiQ8NEW7.
SOURCEiSearch...

Gene expression databases

BgeeiQ8NEW7.
CleanExiHS_TMIE.
GenevisibleiQ8NEW7. HS.

Family and domain databases

InterProiIPR032006. TMIE.
[Graphical view]
PfamiPF16038. TMIE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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. 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].

Entry informationi

Entry nameiTMIE_HUMAN
AccessioniPrimary (citable) accession number: Q8NEW7
Secondary accession number(s): A0AV93, A8K0R0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: November 4, 2008
Last modified: June 8, 2016
This is version 92 of the entry and version 2 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 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

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.