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Protein

Transmembrane protein 43

Gene

TMEM43

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

Functioni

May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

  • nuclear membrane organization Source: MGI

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 43
Alternative name(s):
Protein LUMA
Gene namesi
Name:TMEM43
ORF Names:UNQ2564/PRO6244
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000170876.7
HGNCiHGNC:28472 TMEM43
MIMi612048 gene
neXtProtiNX_Q9BTV4

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
Topological domaini2 – 31NuclearSequence analysisAdd BLAST30
Transmembranei32 – 52HelicalSequence analysisAdd BLAST21
Topological domaini53 – 313Perinuclear spaceSequence analysisAdd BLAST261
Transmembranei314 – 334HelicalSequence analysisAdd BLAST21
Topological domaini335 – 345NuclearSequence analysisAdd BLAST11
Transmembranei346 – 366HelicalSequence analysisAdd BLAST21
Topological domaini367 – 368Perinuclear spaceSequence analysis2
Transmembranei369 – 389HelicalSequence analysisAdd BLAST21
Topological domaini390 – 400NuclearSequence analysisAdd BLAST11

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
See also OMIM:604400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044438358S → L in ARVD5. 1 PublicationCorresponds to variant dbSNP:rs63750743EnsemblClinVar.1
Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
See also OMIM:614302
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06979485E → K in EDMD7; the mutant protein forms predominantly monomers with very few dimers indicating a defect in oligomerization; overexpression in HeLa cells results in abnormal nuclear structures and decreased nuclear localization of both EMD and SUN2 with mislocalization of EMD to the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs397514044EnsemblClinVar.1
Natural variantiVAR_06979591I → V in EDMD7; the mutant protein is able to form oligomers; overexpression in HeLa cells results in abnormal nuclear structures and decreased nuclear localization of both EMD and SUN2 with mislocalization of EMD to the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs144811578EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Emery-Dreifuss muscular dystrophy

Organism-specific databases

DisGeNETi79188
GeneReviewsiTMEM43
MalaCardsiTMEM43
MIMi604400 phenotype
614302 phenotype
OpenTargetsiENSG00000170876
Orphaneti98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
PharmGKBiPA134871907

Polymorphism and mutation databases

BioMutaiTMEM43
DMDMi74733151

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002844982 – 400Transmembrane protein 43Add BLAST399

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9BTV4
MaxQBiQ9BTV4
PaxDbiQ9BTV4
PeptideAtlasiQ9BTV4
PRIDEiQ9BTV4
ProteomicsDBi79012
TopDownProteomicsiQ9BTV4

PTM databases

iPTMnetiQ9BTV4
PhosphoSitePlusiQ9BTV4
SwissPalmiQ9BTV4

Expressioni

Tissue specificityi

Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.1 Publication

Gene expression databases

BgeeiENSG00000170876
CleanExiHS_TMEM43
ExpressionAtlasiQ9BTV4 baseline and differential
GenevisibleiQ9BTV4 HS

Organism-specific databases

HPAiHPA019198

Interactioni

Subunit structurei

Can form oligomers through the transmembrane domains. Interacts with EMD; the interaction retains EMD at the inner nuclear membrane. Interacts with LMNA and LMNB2 (By similarity). Interacts with SUN2.By similarity1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122601, 54 interactors
IntActiQ9BTV4, 36 interactors
MINTiQ9BTV4
STRINGi9606.ENSP00000303992

Structurei

3D structure databases

ProteinModelPortaliQ9BTV4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM43 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEFK Eukaryota
ENOG410Z3TK LUCA
GeneTreeiENSGT00390000009671
HOGENOMiHOG000008164
HOVERGENiHBG062125
InParanoidiQ9BTV4
OMAiGDYFYHS
OrthoDBiEOG091G0A4D
PhylomeDBiQ9BTV4
TreeFamiTF324718

Family and domain databases

InterProiView protein in InterPro
IPR012430 TMEM43_fam
PANTHERiPTHR13416 PTHR13416, 1 hit
PfamiView protein in Pfam
PF07787 TMEM43, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q9BTV4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAANYSSTST RREHVKVKTS SQPGFLERLS ETSGGMFVGL MAFLLSFYLI
60 70 80 90 100
FTNEGRALKT ATSLAEGLSL VVSPDSIHSV APENEGRLVH IIGALRTSKL
110 120 130 140 150
LSDPNYGVHL PAVKLRRHVE MYQWVETEES REYTEDGQVK KETRYSYNTE
160 170 180 190 200
WRSEIINSKN FDREIGHKNP SAMAVESFMA TAPFVQIGRF FLSSGLIDKV
210 220 230 240 250
DNFKSLSLSK LEDPHVDIIR RGDFFYHSEN PKYPEVGDLR VSFSYAGLSG
260 270 280 290 300
DDPDLGPAHV VTVIARQRGD QLVPFSTKSG DTLLLLHHGD FSAEEVFHRE
310 320 330 340 350
LRSNSMKTWG LRAAGWMAMF MGLNLMTRIL YTLVDWFPVF RDLVNIGLKA
360 370 380 390 400
FAFCVATSLT LLTVAAGWLF YRPLWALLIA GLALVPILVA RTRVPAKKLE
Length:400
Mass (Da):44,876
Last modified:June 1, 2001 - v1
Checksum:i70FDDD4ED1AA11DF
GO

Sequence cautioni

The sequence BAB55396 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti196L → P in BAC11350 (PubMed:16303743).Curated1
Sequence conflicti338P → L in AAH11719 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06979485E → K in EDMD7; the mutant protein forms predominantly monomers with very few dimers indicating a defect in oligomerization; overexpression in HeLa cells results in abnormal nuclear structures and decreased nuclear localization of both EMD and SUN2 with mislocalization of EMD to the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs397514044EnsemblClinVar.1
Natural variantiVAR_06979591I → V in EDMD7; the mutant protein is able to form oligomers; overexpression in HeLa cells results in abnormal nuclear structures and decreased nuclear localization of both EMD and SUN2 with mislocalization of EMD to the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs144811578EnsemblClinVar.1
Natural variantiVAR_031751168K → N3 PublicationsCorresponds to variant dbSNP:rs4685076EnsemblClinVar.1
Natural variantiVAR_031752179M → T3 PublicationsCorresponds to variant dbSNP:rs2340917EnsemblClinVar.1
Natural variantiVAR_031753233Y → C. Corresponds to variant dbSNP:rs35924492EnsemblClinVar.1
Natural variantiVAR_031754318A → V. Corresponds to variant dbSNP:rs11924644EnsemblClinVar.1
Natural variantiVAR_044438358S → L in ARVD5. 1 PublicationCorresponds to variant dbSNP:rs63750743EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136916 mRNA Translation: CAB66850.1
AY358625 mRNA Translation: AAQ88988.1
AK027466 mRNA Translation: BAB55131.1
AK027757 mRNA Translation: BAB55348.1
AK027827 mRNA Translation: BAB55396.1 Different initiation.
AK027877 mRNA Translation: BAB55425.1
AK075010 mRNA Translation: BAC11350.1
BC003125 mRNA Translation: AAH03125.1
BC008054 mRNA Translation: AAH08054.2
BC011719 mRNA Translation: AAH11719.1
CCDSiCCDS2618.1
RefSeqiNP_077310.1, NM_024334.2
UniGeneiHs.517817

Genome annotation databases

EnsembliENST00000306077; ENSP00000303992; ENSG00000170876
GeneIDi79188
KEGGihsa:79188
UCSCiuc003byk.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTMM43_HUMAN
AccessioniPrimary (citable) accession number: Q9BTV4
Secondary accession number(s): Q7L4N5
, Q8NC30, Q96A63, Q96F19, Q96JX0, Q9H076
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: June 1, 2001
Last modified: July 18, 2018
This is version 137 of the entry and version 1 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

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
  5. SIMILARITY comments
    Index of protein domains and families

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