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Protein

Transmembrane protein 132E

Gene

TMEM132E

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Required for normal inner ear hair cell function and hearing.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 132E
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:26991. TMEM132E.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini26 – 803778ExtracellularSequence analysisAdd
BLAST
Transmembranei804 – 82421HelicalSequence analysisAdd
BLAST
Topological domaini825 – 984160CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

TMEM132E is located in a region involved in a heterozygous deletion of approximately 4.7 Mb; this deletion, involving the NF1 gene and contiguous genes lying in its flanking regions, is observed in a patient 17q11.2 microdeletion syndrome, a syndrome characterized by variable facial dysmorphism, mental retardation, developmental delay, and an excessive number of neurofibromas.

Several lines of evidence link the Gln-420 variant with autosomal recessive non-syndromic hearing loss. This variant has been reported in 2 siblings with prelingual, bilateral, severe to profound sensorineural hearing loss from a Chinese family of consanguineous marriage and was not found in 500 ethnically matched healthy controls. In mouse, TMEM132E is expressed in cochlea hair cells. In addition, knockdown in zebrafish affects the mechanotransduction of hair cells, a phenotype that can be rescued by wild-type human TMEM132E, but not by the Gln-420 variant.

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

PharmGKBiPA143485655.

Polymorphism and mutation databases

BioMutaiTMEM132E.
DMDMi74709535.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525Sequence analysisAdd
BLAST
Chaini26 – 984959Transmembrane protein 132EPRO_0000287103Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi91 – 911N-linked (GlcNAc...)Sequence analysis
Glycosylationi228 – 2281N-linked (GlcNAc...)Sequence analysis
Glycosylationi309 – 3091N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ6IEE7.
PeptideAtlasiQ6IEE7.
PRIDEiQ6IEE7.

PTM databases

iPTMnetiQ6IEE7.
PhosphoSiteiQ6IEE7.

Expressioni

Gene expression databases

BgeeiENSG00000181291.
CleanExiHS_TMEM132E.
ExpressionAtlasiQ6IEE7. baseline and differential.
GenevisibleiQ6IEE7. HS.

Organism-specific databases

HPAiHPA070608.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000316532.

Structurei

3D structure databases

ProteinModelPortaliQ6IEE7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM132 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4789. Eukaryota.
ENOG410XQCD. LUCA.
GeneTreeiENSGT00550000074550.
HOGENOMiHOG000154481.
HOVERGENiHBG108534.
InParanoidiQ6IEE7.
KOiK17599.
OMAiESFVVFQ.
OrthoDBiEOG091G013Z.
PhylomeDBiQ6IEE7.
TreeFamiTF314981.

Family and domain databases

InterProiIPR026307. TMEM132.
IPR031436. TMEM132_C.
IPR031437. TMEM132_M.
IPR031435. TMEM132_N.
[Graphical view]
PANTHERiPTHR13388. PTHR13388. 1 hit.
PfamiPF16070. TMEM132. 1 hit.
PF15706. TMEM132D_C. 1 hit.
PF15705. TMEM132D_N. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q6IEE7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAPGMSGRGG AALLCLSALL AHASGRSHPA SPSPPGPQAS PVLPVSYRLS
60 70 80 90 100
HTRLAFFLRE ARPPSPAVAN SSLQRSEPFV VFQTKELPVL NVSLGPFSTS
110 120 130 140 150
QVVARELLQP SSTLDIPERL TVNWKVRAFI VRSHVPASQP VVQVLFYVAG
160 170 180 190 200
RDWDDFGVTE RLPCVRLHAF RDAREHPLLR IGSISLFRPP PRRTLQEHRL
210 220 230 240 250
DSNLMIRLPD RPLKPGEVLS ILLYLAPNSS SPSSPSVEHF TLRVKAKKGV
260 270 280 290 300
TLLGTKSRSG QWHVTSELLT GAKHSTATVD VAWAQSTPLP PREGQGPLEI
310 320 330 340 350
LQLDFEMENF TSQSVKRRIM WHIDYRGHGA LPDLERAVTE LTVIQRDVQA
360 370 380 390 400
ILPLAMDTEI INTAILTGRT VAIPVKVIAI EVNGLVLDIS ALVECESDNE
410 420 430 440 450
DIIKVSSSCD YVFVSGKESR GSMNARVTFR YDVLNAPLEM TVWVPKLPLH
460 470 480 490 500
IELSDARLSQ VKGWRVPILP DRRSVRESED EDEEEEERRQ SASRGCTLQY
510 520 530 540 550
QHATLQVFTQ FHTTSSEGTD QVVTMLGPDW LVEVTDLVSD FMRVGDPRVA
560 570 580 590 600
HMVDSSTLAG LEPGTTPFKV VSPLTEAVLG ETLLTVTEEK VSITQLQAQV
610 620 630 640 650
VASLALSLRP SPGSSHTILA TTAAQQTLSF LKQEALLSLW LSYSDGTTAP
660 670 680 690 700
LSLYSPRDYG LLVSSLDEHV ATVTQDRAFP LVVAEAEGSG ELLRAELTIA
710 720 730 740 750
ESCQKTKRKS VLATTPVGLR VHFGRDEEDP TYDYPGPSQP GPGGGEDEAR
760 770 780 790 800
GAGPPGSALP APEAPGPGTA SPVVPPTEDF LPLPTGFLQV PRGLTDLEIG
810 820 830 840 850
MYALLGVFCL AILVFLINCI VFVLRYRHKR IPPEGQTSMD HSHHWVFLGN
860 870 880 890 900
GQPLRVQGEL SPPAGNPLET VPAFCHGDHH SSGSSQTSVQ SQVHGRGDGS
910 920 930 940 950
SGGSARDQAE DPASSPTSKR KRVKFTTFTT LPSEELAYDS VPAGEEDEEE
960 970 980
EEDLGWGCPD VAGPTRPTAP PDLHNYMRRI KEIA
Length:984
Mass (Da):107,094
Last modified:July 5, 2004 - v1
Checksum:iB637DB255CA73126
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti444 – 4441V → F in AAH20591 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti420 – 4201R → Q Probable disease-associated mutation found in autosomal recessive non-syndromic hearing loss. 1 Publication
Corresponds to variant rs139895222 [ dbSNP | Ensembl ].
VAR_073717

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC005691 Genomic DNA. No translation available.
BC018318 mRNA. Translation: AAH18318.1.
BC020591 mRNA. Translation: AAH20591.1.
BN000149 mRNA. Translation: CAD80169.1.
RefSeqiNP_001291367.1. NM_001304438.1.
UniGeneiHs.310482.

Genome annotation databases

EnsembliENST00000321639; ENSP00000316532; ENSG00000181291.
GeneIDi124842.
KEGGihsa:124842.
UCSCiuc002hif.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC005691 Genomic DNA. No translation available.
BC018318 mRNA. Translation: AAH18318.1.
BC020591 mRNA. Translation: AAH20591.1.
BN000149 mRNA. Translation: CAD80169.1.
RefSeqiNP_001291367.1. NM_001304438.1.
UniGeneiHs.310482.

3D structure databases

ProteinModelPortaliQ6IEE7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000316532.

PTM databases

iPTMnetiQ6IEE7.
PhosphoSiteiQ6IEE7.

Polymorphism and mutation databases

BioMutaiTMEM132E.
DMDMi74709535.

Proteomic databases

PaxDbiQ6IEE7.
PeptideAtlasiQ6IEE7.
PRIDEiQ6IEE7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321639; ENSP00000316532; ENSG00000181291.
GeneIDi124842.
KEGGihsa:124842.
UCSCiuc002hif.3. human.

Organism-specific databases

CTDi124842.
GeneCardsiTMEM132E.
H-InvDBHIX0039153.
HGNCiHGNC:26991. TMEM132E.
HPAiHPA070608.
MIMi616178. gene.
neXtProtiNX_Q6IEE7.
PharmGKBiPA143485655.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4789. Eukaryota.
ENOG410XQCD. LUCA.
GeneTreeiENSGT00550000074550.
HOGENOMiHOG000154481.
HOVERGENiHBG108534.
InParanoidiQ6IEE7.
KOiK17599.
OMAiESFVVFQ.
OrthoDBiEOG091G013Z.
PhylomeDBiQ6IEE7.
TreeFamiTF314981.

Miscellaneous databases

GenomeRNAii124842.
PROiQ6IEE7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181291.
CleanExiHS_TMEM132E.
ExpressionAtlasiQ6IEE7. baseline and differential.
GenevisibleiQ6IEE7. HS.

Family and domain databases

InterProiIPR026307. TMEM132.
IPR031436. TMEM132_C.
IPR031437. TMEM132_M.
IPR031435. TMEM132_N.
[Graphical view]
PANTHERiPTHR13388. PTHR13388. 1 hit.
PfamiPF16070. TMEM132. 1 hit.
PF15706. TMEM132D_C. 1 hit.
PF15705. TMEM132D_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiT132E_HUMAN
AccessioniPrimary (citable) accession number: Q6IEE7
Secondary accession number(s): Q8WUF4, Q8WVA5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: July 5, 2004
Last modified: September 7, 2016
This is version 80 of the entry and version 1 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 17
    Human chromosome 17: 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
  5. SIMILARITY comments
    Index of protein domains and families

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.