T132E_HUMAN
ID T132E_HUMAN Reviewed; 1074 AA.
AC Q6IEE7; A0A0J9YW40; Q8WUF4; Q8WVA5;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 10-APR-2019, sequence version 2.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=Transmembrane protein 132E {ECO:0000305};
DE Flags: Precursor;
GN Name=TMEM132E {ECO:0000312|HGNC:HGNC:26991};
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 340-1074.
RC TISSUE=Adrenal cortex, and Brain;
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).
RN [3]
RP IDENTIFICATION, AND DISEASE.
RX PubMed=14569139; DOI=10.1136/jmg.40.10.e116;
RA Kehrer-Sawatzki H., Tinschert S., Jenne D.E.;
RT "Heterogeneity of breakpoints in non-LCR-mediated large constitutional
RT deletions of the 17q11.2 NF1 tumour suppressor region.";
RL J. Med. Genet. 40:E116-E116(2003).
RN [4]
RP INVOLVEMENT IN DFNB99, VARIANT GLN-510, FUNCTION, AND VARIANT DFNB99
RP GLN-510.
RX PubMed=25331638; DOI=10.1002/humu.22712;
RA Li J., Zhao X., Xin Q., Shan S., Jiang B., Jin Y., Yuan H., Dai P.,
RA Xiao R., Zhang Q., Xiao J., Shao C., Gong Y., Liu Q.;
RT "Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-
RT recessive nonsyndromic hearing loss DFNB99.";
RL Hum. Mutat. 36:98-105(2015).
CC -!- FUNCTION: Required for normal inner ear hair cell function and hearing.
CC {ECO:0000269|PubMed:25331638}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- DISEASE: Note=TMEM132E is located in a region involved in a
CC heterozygous deletion of approximately 4.7 Mb; this deletion, involving
CC the NF1 gene and contiguous genes lying in its flanking regions, is
CC observed in a patient with 17q11.2 microdeletion syndrome, a syndrome
CC characterized by variable facial dysmorphism, intellectual disability,
CC developmental delay, and an excessive number of neurofibromas.
CC {ECO:0000269|PubMed:14569139}.
CC -!- DISEASE: Deafness, autosomal recessive, 99 (DFNB99) [MIM:618481]: A
CC form of non-syndromic deafness characterized by prelingual, bilateral,
CC severe-to-profound 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:25331638}. Note=The disease is caused
CC by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TMEM132 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAD80169.1; Type=Miscellaneous discrepancy; Note=Artifactual sequence.; Evidence={ECO:0000305};
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DR EMBL; AC005691; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC018318; AAH18318.1; -; mRNA.
DR EMBL; BC020591; AAH20591.1; -; mRNA.
DR EMBL; BN000149; CAD80169.1; ALT_SEQ; mRNA.
DR CCDS; CCDS11283.2; -.
DR RefSeq; NP_001291367.1; NM_001304438.1.
DR AlphaFoldDB; Q6IEE7; -.
DR SMR; Q6IEE7; -.
DR BioGRID; 125892; 2.
DR STRING; 9606.ENSP00000316532; -.
DR TCDB; 8.A.143.1.5; the tmem132 (tmem132) family.
DR GlyGen; Q6IEE7; 6 sites, 2 O-linked glycans (2 sites).
DR iPTMnet; Q6IEE7; -.
DR PhosphoSitePlus; Q6IEE7; -.
DR BioMuta; TMEM132E; -.
DR DMDM; 74709535; -.
DR MassIVE; Q6IEE7; -.
DR PaxDb; Q6IEE7; -.
DR PeptideAtlas; Q6IEE7; -.
DR PRIDE; Q6IEE7; -.
DR ProteomicsDB; 66409; -.
DR Antibodypedia; 55084; 66 antibodies from 15 providers.
DR DNASU; 124842; -.
DR Ensembl; ENST00000631683.2; ENSP00000487800.2; ENSG00000181291.8.
DR GeneID; 124842; -.
DR KEGG; hsa:124842; -.
DR MANE-Select; ENST00000631683.2; ENSP00000487800.2; NM_001304438.2; NP_001291367.1.
DR UCSC; uc002hif.3; human.
DR CTD; 124842; -.
DR DisGeNET; 124842; -.
DR GeneCards; TMEM132E; -.
DR HGNC; HGNC:26991; TMEM132E.
DR HPA; ENSG00000181291; Tissue enriched (brain).
DR MalaCards; TMEM132E; -.
DR MIM; 616178; gene.
DR MIM; 618481; phenotype.
DR neXtProt; NX_Q6IEE7; -.
DR OpenTargets; ENSG00000181291; -.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR PharmGKB; PA143485655; -.
DR VEuPathDB; HostDB:ENSG00000181291; -.
DR eggNOG; KOG4789; Eukaryota.
DR GeneTree; ENSGT00940000158479; -.
DR HOGENOM; CLU_009871_0_1_1; -.
DR InParanoid; Q6IEE7; -.
DR OMA; QCKSTNE; -.
DR OrthoDB; 598074at2759; -.
DR PhylomeDB; Q6IEE7; -.
DR TreeFam; TF314981; -.
DR PathwayCommons; Q6IEE7; -.
DR BioGRID-ORCS; 124842; 4 hits in 1066 CRISPR screens.
DR ChiTaRS; TMEM132E; human.
DR GenomeRNAi; 124842; -.
DR Pharos; Q6IEE7; Tdark.
DR PRO; PR:Q6IEE7; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6IEE7; protein.
DR Bgee; ENSG00000181291; Expressed in kidney epithelium and 128 other tissues.
DR ExpressionAtlas; Q6IEE7; baseline and differential.
DR Genevisible; Q6IEE7; HS.
DR GO; GO:0044297; C:cell body; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0035677; P:posterior lateral line neuromast hair cell development; IGI:UniProtKB.
DR InterPro; IPR026307; TMEM132.
DR InterPro; IPR031436; TMEM132_C.
DR InterPro; IPR031437; TMEM132_M.
DR InterPro; IPR031435; TMEM132_N.
DR PANTHER; PTHR13388; PTHR13388; 1.
DR Pfam; PF16070; TMEM132; 1.
DR Pfam; PF15706; TMEM132D_C; 1.
DR Pfam; PF15705; TMEM132D_N; 1.
PE 1: Evidence at protein level;
KW Deafness; Disease variant; Glycoprotein; Membrane; Non-syndromic deafness;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..25
FT /evidence="ECO:0000255"
FT CHAIN 26..1074
FT /note="Transmembrane protein 132E"
FT /id="PRO_0000287103"
FT TOPO_DOM 26..893
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 894..914
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 915..1074
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 202..226
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 241..264
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 563..585
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 814..867
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 946..1063
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 848..862
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 969..988
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1009..1024
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1030..1046
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 70
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 91
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 318
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 399
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 510
FT /note="R -> Q (in DFNB99; dbSNP:rs139895222)"
FT /evidence="ECO:0000269|PubMed:25331638"
FT /id="VAR_073717"
FT CONFLICT 534
FT /note="V -> F (in Ref. 2; AAH20591)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1074 AA; 116150 MW; 26257CBDD25FE880 CRC64;
MAPGMSGRGG AALLCLSALL AHASGRSHPA SPSPPGPQAS PVLPVSYRLS HTRLAFFLRE
ARPPSPAVAN SSLQRSEPFV VFQTKELPVL NVSLGPFSTS QVVARELLQP SSTLDIPERL
TVNWKVRAFI VRSHVPASQP VVQVLFYVAG RDWDDFGVTE RLPCVRLHAF RDAREVKSSC
RLSGGLATCL VRAELPLAWF GPPAPAAPPT ARRKSPDGLE PEATGESQQA ELYYTLHAPD
ASGGCGGSRR GAGPGVGARA ESPTQHPLLR IGSISLFRPP PRRTLQEHRL DSNLMIRLPD
RPLKPGEVLS ILLYLAPNSS SPSSPSVEHF TLRVKAKKGV TLLGTKSRSG QWHVTSELLT
GAKHSTATVD VAWAQSTPLP PREGQGPLEI LQLDFEMENF TSQSVKRRIM WHIDYRGHGA
LPDLERAVTE LTVIQRDVQA ILPLAMDTEI INTAILTGRT VAIPVKVIAI EVNGLVLDIS
ALVECESDNE DIIKVSSSCD YVFVSGKESR GSMNARVTFR YDVLNAPLEM TVWVPKLPLH
IELSDARLSQ VKGWRVPILP DRRSVRESED EDEEEEERRQ SASRGCTLQY QHATLQVFTQ
FHTTSSEGTD QVVTMLGPDW LVEVTDLVSD FMRVGDPRVA HMVDSSTLAG LEPGTTPFKV
VSPLTEAVLG ETLLTVTEEK VSITQLQAQV VASLALSLRP SPGSSHTILA TTAAQQTLSF
LKQEALLSLW LSYSDGTTAP LSLYSPRDYG LLVSSLDEHV ATVTQDRAFP LVVAEAEGSG
ELLRAELTIA ESCQKTKRKS VLATTPVGLR VHFGRDEEDP TYDYPGPSQP GPGGGEDEAR
GAGPPGSALP APEAPGPGTA SPVVPPTEDF LPLPTGFLQV PRGLTDLEIG MYALLGVFCL
AILVFLINCI VFVLRYRHKR IPPEGQTSMD HSHHWVFLGN GQPLRVQGEL SPPAGNPLET
VPAFCHGDHH SSGSSQTSVQ SQVHGRGDGS SGGSARDQAE DPASSPTSKR KRVKFTTFTT
LPSEELAYDS VPAGEEDEEE EEDLGWGCPD VAGPTRPTAP PDLHNYMRRI KEIA
