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Protein

Transmembrane protein 114

Gene

TMEM114

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 114Imported
Gene namesi
Name:TMEM114Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000232258.6
HGNCiHGNC:33227 TMEM114
MIMi611579 gene
neXtProtiNX_B3SHH9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei7 – 27HelicalSequence analysisAdd BLAST21
Transmembranei106 – 126HelicalSequence analysisAdd BLAST21
Transmembranei134 – 154HelicalSequence analysisAdd BLAST21
Transmembranei189 – 209HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Chromosomal aberrations involving TMEM114 may be a cause of congenital and juvenile cataracts. Translocation t(16;22) (p13.3;q11.2).1 Publication

Organism-specific databases

DisGeNETi283953
OpenTargetsiENSG00000232258
PharmGKBiPA162405852

Polymorphism and mutation databases

BioMutaiTMEM114

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003527591 – 223Transmembrane protein 114Add BLAST223

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi55N-linked (GlcNAc...) asparagineBy similarity1
Glycosylationi89N-linked (GlcNAc...) asparagineBy similarity1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiB3SHH9
PRIDEiB3SHH9

PTM databases

iPTMnetiB3SHH9
PhosphoSitePlusiB3SHH9

Expressioni

Developmental stagei

Detected in the eye at gestational days 53-54 and at gestational week 10.1 Publication

Gene expression databases

BgeeiENSG00000232258
CleanExiHS_TMEM114
ExpressionAtlasiB3SHH9 baseline and differential

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000454261

Structurei

3D structure databases

ProteinModelPortaliB3SHH9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PMP-22/EMP/MP20 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF9Y Eukaryota
ENOG4111IMB LUCA
GeneTreeiENSGT00390000011615
HOGENOMiHOG000154605
HOVERGENiHBG076521
InParanoidiB3SHH9
OMAiPLMNPFW
OrthoDBiEOG091G0OBW
PhylomeDBiB3SHH9

Family and domain databases

InterProiView protein in InterPro
IPR004031 PMP22/EMP/MP20/Claudin
PfamiView protein in Pfam
PF13903 Claudin_2, 1 hit

Sequencei

Sequence statusi: Complete.

B3SHH9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRVHLGGLAG AAALTGALSF VLLAAAIGTD FWYIIDTERL ERTGPGAQDL
60 70 80 90 100
LGSINRSQPE PLSSHSGLWR TCRVQSPCTP LMNPFRLENV TVSESSRQLL
110 120 130 140 150
TMHGTFVILL PLSLILMVFG GMTGFLSFLL QAYLLLLLTG ILFLFGAMVT
160 170 180 190 200
LAGISVYIAY SAAAFREALC LLEEKALLDQ VDISFGWSLA LGWISFIAEL
210 220
LTGAAFLAAA RELSLRRRQD QAI
Length:223
Mass (Da):24,166
Last modified:October 14, 2008 - v2
Checksum:i7D5D62698712B3CD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti205A → P in BF727259 (PubMed:12107413).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05870735I → T1 PublicationCorresponds to variant dbSNP:rs1048548807Ensembl.1
Natural variantiVAR_058708147A → V1 PublicationCorresponds to variant dbSNP:rs141472774Ensembl.1
Natural variantiVAR_058709206F → L1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EF424218 Genomic DNA Translation: ABN55916.1
BF727259 mRNA No translation available.
BC150511 mRNA No translation available.
CCDSiCCDS73825.1
RefSeqiNP_001139808.1, NM_001146336.1
UniGeneiHs.150849
Hs.459847
Hs.517683

Genome annotation databases

EnsembliENST00000620492; ENSP00000484263; ENSG00000232258
GeneIDi283953
KEGGihsa:283953
UCSCiuc032dql.1 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTM114_HUMAN
AccessioniPrimary (citable) accession number: B3SHH9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 14, 2008
Last sequence update: October 14, 2008
Last modified: February 28, 2018
This is version 68 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health