TMIE_HUMAN
ID TMIE_HUMAN Reviewed; 156 AA.
AC Q8NEW7; A0AV93; A8K0R0;
DT 29-MAR-2005, integrated into UniProtKB/Swiss-Prot.
DT 04-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Transmembrane inner ear expressed protein;
DE Flags: Precursor;
GN Name=TMIE;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANTS DFNB6 CYS-81;
RP TRP-84 AND TRP-92.
RX PubMed=12145746; DOI=10.1086/342193;
RA Naz S., Giguere C.M., Kohrman D.C., Mitchem K.L., Riazuddin S.,
RA Morell R.J., Ramesh A., Srisailpathy S., Deshmukh D., Riazuddin S.,
RA Griffith A.J., Friedman T.B., Smith R.J.H., Wilcox E.R.;
RT "Mutations in a novel gene, TMIE, are associated with hearing loss linked
RT to the DFNB6 locus.";
RL Am. J. Hum. Genet. 71:632-636(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Amygdala;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Unknown. The protein may play some role in a cellular
CC membrane location. May reside within an internal membrane compartment
CC and function in pathways such as those involved in protein and/or
CC vesicle trafficking. Alternatively, the mature protein may be localized
CC in the plasma membrane and serve as a site of interaction for other
CC molecules through its highly charged C-terminal domain.
CC -!- SUBUNIT: Interacts with TOMT. {ECO:0000250|UniProtKB:Q8K467}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in many tissues.
CC {ECO:0000269|PubMed:12145746}.
CC -!- DISEASE: Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971]: A form
CC of non-syndromic sensorineural hearing loss. Sensorineural deafness
CC results from damage to the neural receptors of the inner ear, the nerve
CC pathways to the brain, or the area of the brain that receives sound
CC information. {ECO:0000269|PubMed:12145746}. Note=The disease is caused
CC by variants affecting the gene represented in this entry.
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DR EMBL; AY081842; AAL89820.1; -; mRNA.
DR EMBL; AK289625; BAF82314.1; -; mRNA.
DR EMBL; CH471055; EAW64781.1; -; Genomic_DNA.
DR EMBL; BC126258; AAI26259.1; -; mRNA.
DR EMBL; BC126260; AAI26261.1; -; mRNA.
DR CCDS; CCDS43081.1; -.
DR RefSeq; NP_671729.2; NM_147196.2.
DR AlphaFoldDB; Q8NEW7; -.
DR SMR; Q8NEW7; -.
DR BioGRID; 129230; 31.
DR IntAct; Q8NEW7; 1.
DR STRING; 9606.ENSP00000324775; -.
DR TCDB; 1.A.9.1.22; the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.
DR TCDB; 8.A.116.1.2; the transmembrane inner ear (tmie) family.
DR GlyGen; Q8NEW7; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NEW7; -.
DR PhosphoSitePlus; Q8NEW7; -.
DR BioMuta; TMIE; -.
DR DMDM; 212276469; -.
DR jPOST; Q8NEW7; -.
DR MassIVE; Q8NEW7; -.
DR PaxDb; Q8NEW7; -.
DR PeptideAtlas; Q8NEW7; -.
DR PRIDE; Q8NEW7; -.
DR Antibodypedia; 29762; 78 antibodies from 19 providers.
DR DNASU; 259236; -.
DR Ensembl; ENST00000643606.3; ENSP00000494576.2; ENSG00000181585.7.
DR GeneID; 259236; -.
DR KEGG; hsa:259236; -.
DR MANE-Select; ENST00000643606.3; ENSP00000494576.2; NM_147196.3; NP_671729.2.
DR UCSC; uc010hjk.2; human.
DR CTD; 259236; -.
DR DisGeNET; 259236; -.
DR GeneCards; TMIE; -.
DR GeneReviews; TMIE; -.
DR HGNC; HGNC:30800; TMIE.
DR HPA; ENSG00000181585; Tissue enhanced (brain, choroid plexus, pituitary gland).
DR MalaCards; TMIE; -.
DR MIM; 600971; phenotype.
DR MIM; 607237; gene.
DR neXtProt; NX_Q8NEW7; -.
DR OpenTargets; ENSG00000181585; -.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR PharmGKB; PA134972473; -.
DR VEuPathDB; HostDB:ENSG00000181585; -.
DR eggNOG; ENOG502RY3K; Eukaryota.
DR GeneTree; ENSGT00390000005082; -.
DR HOGENOM; CLU_106776_1_0_1; -.
DR InParanoid; Q8NEW7; -.
DR OMA; CCIFNCR; -.
DR OrthoDB; 1622008at2759; -.
DR PhylomeDB; Q8NEW7; -.
DR TreeFam; TF332314; -.
DR PathwayCommons; Q8NEW7; -.
DR Reactome; R-HSA-9662360; Sensory processing of sound by inner hair cells of the cochlea.
DR Reactome; R-HSA-9662361; Sensory processing of sound by outer hair cells of the cochlea.
DR BioGRID-ORCS; 259236; 10 hits in 1065 CRISPR screens.
DR GenomeRNAi; 259236; -.
DR Pharos; Q8NEW7; Tbio.
DR PRO; PR:Q8NEW7; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8NEW7; protein.
DR Bgee; ENSG00000181585; Expressed in hypothalamus and 122 other tissues.
DR ExpressionAtlas; Q8NEW7; baseline and differential.
DR Genevisible; Q8NEW7; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0042472; P:inner ear morphogenesis; IBA:GO_Central.
DR GO; GO:0007605; P:sensory perception of sound; IBA:GO_Central.
DR InterPro; IPR032006; TMIE.
DR PANTHER; PTHR28635; PTHR28635; 1.
DR Pfam; PF16038; TMIE; 1.
PE 1: Evidence at protein level;
KW Deafness; Disease variant; Membrane; Non-syndromic deafness;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..27
FT /evidence="ECO:0000255"
FT CHAIN 28..156
FT /note="Transmembrane inner ear expressed protein"
FT /id="PRO_0000022555"
FT TOPO_DOM 28..57
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 58..78
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 79..156
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 113..135
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 81
FT /note="R -> C (in DFNB6; dbSNP:rs28942096)"
FT /evidence="ECO:0000269|PubMed:12145746"
FT /id="VAR_021524"
FT VARIANT 84
FT /note="R -> W (in DFNB6; dbSNP:rs28942097)"
FT /evidence="ECO:0000269|PubMed:12145746"
FT /id="VAR_021525"
FT VARIANT 92
FT /note="R -> W (in DFNB6; dbSNP:rs28941781)"
FT /evidence="ECO:0000269|PubMed:12145746"
FT /id="VAR_021526"
FT CONFLICT 131
FT /note="Missing (in Ref. 1; AAL89820 and 4; AAI26259/
FT AAI26261)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 156 AA; 17241 MW; 457DC5D0C5F66F03 CRC64;
MAGWPGAGPL CVLGGAALGV CLAGVAGQLV EPSTAPPKPK PPPLTKETVV FWDMRLWHVV
GIFSLFVLSI IITLCCVFNC RVPRTRKEIE ARYLQRKAAK MYTDKLETVP PLNELTEVPG
EDKKKKKKKK KDSVDTVAIK VEEDEKNEAK KKKGEK
