UniProtKB - Q9BTV4 (TMM43_HUMAN)
Protein
Transmembrane protein 43
Gene
TMEM43
Organism
Homo sapiens (Human)
Status
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
- protein self-association Source: Ensembl
GO - Biological processi
- nuclear membrane organization Source: MGI
Names & Taxonomyi
Protein namesi | Recommended name: Transmembrane protein 43Alternative name(s): Protein LUMA |
Gene namesi | Name:TMEM43 ORF Names:UNQ2564/PRO6244 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28472 TMEM43 |
MIMi | 612048 gene |
neXtProti | NX_Q9BTV4 |
Subcellular locationi
Nucleus
Endoplasmic reticulum
- Endoplasmic reticulum By similarity
Note: Retained in the inner nuclear membrane through interaction with EMD and A- and B-lamins. The N- and C-termini are oriented towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen (By similarity).By similarity
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Ensembl
Golgi apparatus
- Golgi apparatus Source: LIFEdb
Nucleus
- integral component of nuclear inner membrane Source: GO_Central
Other locations
- membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 2 – 31 | NuclearSequence analysisAdd BLAST | 30 | |
Transmembranei | 32 – 52 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 53 – 313 | Perinuclear spaceSequence analysisAdd BLAST | 261 | |
Transmembranei | 314 – 334 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 335 – 345 | NuclearSequence analysisAdd BLAST | 11 | |
Transmembranei | 346 – 366 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 367 – 368 | Perinuclear spaceSequence analysis | 2 | |
Transmembranei | 369 – 389 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 390 – 400 | NuclearSequence analysisAdd BLAST | 11 |
Keywords - Cellular componenti
Endoplasmic reticulum, Membrane, NucleusPathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_044438 | 358 | S → 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069794 | 85 | E → 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_069795 | 91 | I → 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 dystrophyOrganism-specific databases
DisGeNETi | 79188 |
GeneReviewsi | TMEM43 |
MalaCardsi | TMEM43 |
MIMi | 604400 phenotype 614302 phenotype |
OpenTargetsi | ENSG00000170876 |
Orphaneti | 98853 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 |
PharmGKBi | PA134871907 |
Miscellaneous databases
Pharosi | Q9BTV4 |
Polymorphism and mutation databases
BioMutai | TMEM43 |
DMDMi | 74733151 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000284498 | 2 – 400 | Transmembrane protein 43Add BLAST | 399 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources1 Publication | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q9BTV4 |
jPOSTi | Q9BTV4 |
MassIVEi | Q9BTV4 |
MaxQBi | Q9BTV4 |
PaxDbi | Q9BTV4 |
PeptideAtlasi | Q9BTV4 |
PRIDEi | Q9BTV4 |
ProteomicsDBi | 79012 |
TopDownProteomicsi | Q9BTV4 |
PTM databases
iPTMneti | Q9BTV4 |
PhosphoSitePlusi | Q9BTV4 |
SwissPalmi | Q9BTV4 |
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
Bgeei | ENSG00000170876 Expressed in 225 organ(s), highest expression level in prostate gland |
ExpressionAtlasi | Q9BTV4 baseline and differential |
Genevisiblei | Q9BTV4 HS |
Organism-specific databases
HPAi | HPA019198 |
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 PublicationBinary interactionsi
GO - Molecular functioni
- protein self-association Source: Ensembl
Protein-protein interaction databases
BioGridi | 122601, 63 interactors |
IntActi | Q9BTV4, 49 interactors |
MINTi | Q9BTV4 |
STRINGi | 9606.ENSP00000303992 |
Family & Domainsi
Sequence similaritiesi
Belongs to the TMEM43 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG410IEFK Eukaryota ENOG410Z3TK LUCA |
GeneTreei | ENSGT00390000009671 |
HOGENOMi | HOG000008164 |
InParanoidi | Q9BTV4 |
OMAi | IIRRGDY |
OrthoDBi | 866982at2759 |
PhylomeDBi | Q9BTV4 |
TreeFami | TF324718 |
Family and domain databases
InterProi | View protein in InterPro IPR012430 TMEM43_fam |
PANTHERi | PTHR13416 PTHR13416, 1 hit |
Pfami | View protein in Pfam PF07787 TMEM43, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q9BTV4-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketF8WDL3 | F8WDL3_HUMAN | Transmembrane protein 43 | TMEM43 | 66 | Annotation score: |
Sequence cautioni
The sequence BAB55396 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 196 | L → P in BAC11350 (PubMed:16303743).Curated | 1 | |
Sequence conflicti | 338 | P → L in AAH11719 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069794 | 85 | E → 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_069795 | 91 | I → 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_031751 | 168 | K → N3 PublicationsCorresponds to variant dbSNP:rs4685076EnsemblClinVar. | 1 | |
Natural variantiVAR_031752 | 179 | M → T3 PublicationsCorresponds to variant dbSNP:rs2340917EnsemblClinVar. | 1 | |
Natural variantiVAR_031753 | 233 | Y → C. Corresponds to variant dbSNP:rs35924492EnsemblClinVar. | 1 | |
Natural variantiVAR_031754 | 318 | A → V. Corresponds to variant dbSNP:rs11924644EnsemblClinVar. | 1 | |
Natural variantiVAR_044438 | 358 | S → 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 |
CCDSi | CCDS2618.1 |
RefSeqi | NP_077310.1, NM_024334.2 |
Genome annotation databases
Ensembli | ENST00000306077; ENSP00000303992; ENSG00000170876 |
GeneIDi | 79188 |
KEGGi | hsa:79188 |
UCSCi | uc003byk.3 human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS2618.1 |
RefSeqi | NP_077310.1, NM_024334.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGridi | 122601, 63 interactors |
IntActi | Q9BTV4, 49 interactors |
MINTi | Q9BTV4 |
STRINGi | 9606.ENSP00000303992 |
PTM databases
iPTMneti | Q9BTV4 |
PhosphoSitePlusi | Q9BTV4 |
SwissPalmi | Q9BTV4 |
Polymorphism and mutation databases
BioMutai | TMEM43 |
DMDMi | 74733151 |
Proteomic databases
EPDi | Q9BTV4 |
jPOSTi | Q9BTV4 |
MassIVEi | Q9BTV4 |
MaxQBi | Q9BTV4 |
PaxDbi | Q9BTV4 |
PeptideAtlasi | Q9BTV4 |
PRIDEi | Q9BTV4 |
ProteomicsDBi | 79012 |
TopDownProteomicsi | Q9BTV4 |
Protocols and materials databases
DNASUi | 79188 |
Genome annotation databases
Ensembli | ENST00000306077; ENSP00000303992; ENSG00000170876 |
GeneIDi | 79188 |
KEGGi | hsa:79188 |
UCSCi | uc003byk.3 human |
Organism-specific databases
CTDi | 79188 |
DisGeNETi | 79188 |
GeneCardsi | TMEM43 |
GeneReviewsi | TMEM43 |
HGNCi | HGNC:28472 TMEM43 |
HPAi | HPA019198 |
MalaCardsi | TMEM43 |
MIMi | 604400 phenotype 612048 gene 614302 phenotype |
neXtProti | NX_Q9BTV4 |
OpenTargetsi | ENSG00000170876 |
Orphaneti | 98853 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 |
PharmGKBi | PA134871907 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG410IEFK Eukaryota ENOG410Z3TK LUCA |
GeneTreei | ENSGT00390000009671 |
HOGENOMi | HOG000008164 |
InParanoidi | Q9BTV4 |
OMAi | IIRRGDY |
OrthoDBi | 866982at2759 |
PhylomeDBi | Q9BTV4 |
TreeFami | TF324718 |
Miscellaneous databases
ChiTaRSi | TMEM43 human |
GeneWikii | TMEM43 |
GenomeRNAii | 79188 |
Pharosi | Q9BTV4 |
PROi | PR:Q9BTV4 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000170876 Expressed in 225 organ(s), highest expression level in prostate gland |
ExpressionAtlasi | Q9BTV4 baseline and differential |
Genevisiblei | Q9BTV4 HS |
Family and domain databases
InterProi | View protein in InterPro IPR012430 TMEM43_fam |
PANTHERi | PTHR13416 PTHR13416, 1 hit |
Pfami | View protein in Pfam PF07787 TMEM43, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TMM43_HUMAN | |
Accessioni | Q9BTV4Primary (citable) accession number: Q9BTV4 Secondary accession number(s): Q7L4N5 Q9H076 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 17, 2007 |
Last sequence update: | June 1, 2001 | |
Last modified: | October 16, 2019 | |
This is version 145 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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 proteomeDocuments
- Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot