TMEM43

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

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

nuclear membrane organization
Source: MGI
Inferred from direct assayⁱ
- 18230648

View the complete GO annotation on QuickGO ...

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Transmembrane protein 43 Alternative name(s): Protein LUMA
Gene namesⁱ	Name:TMEM43 ORF Names:UNQ2564/PRO6244
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 3

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000170876.7
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:28472 TMEM43
MIMⁱ	612048 gene
neXtProtⁱ	NX_Q9BTV4

Topology

Feature key	Position(s)	DescriptionActions	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, 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.

Feature 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.

Keywords - Diseaseⁱ

Cardiomyopathy, Disease mutation, Emery-Dreifuss muscular dystrophy

Organism-specific databases

DisGeNET More...DisGeNETⁱ	79188
GeneReviewsⁱ	TMEM43
MalaCards human disease database More...MalaCardsⁱ	TMEM43
MIMⁱ	604400 phenotype 614302 phenotype
Open Targets More...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

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

Acetylation

Proteomic databases

EPDⁱ	Q9BTV4
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9BTV4
PaxDbⁱ	Q9BTV4
PeptideAtlas More...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
CleanExⁱ	HS_TMEM43
ExpressionAtlasⁱ	Q9BTV4 baseline and differential
Genevisibleⁱ	Q9BTV4 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA019198

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 Publication

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
GRAMD2B	Q96HH9	5	EBI-721293,EBI-2832937
SIAH1	Q8IUQ4	3	EBI-721293,EBI-747107
SIAH1	Q8IUQ4-2	3	EBI-721293,EBI-11522811

Show more details

GO - Molecular functionⁱ

protein self-association Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	122601, 54 interactors
IntActⁱ	Q9BTV4, 36 interactors
Molecular INTeraction database More...MINTⁱ	Q9BTV4
STRINGⁱ	9606.ENSP00000303992

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9BTV4
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the TMEM43 family.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410IEFK Eukaryota ENOG410Z3TK LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000009671
HOGENOMⁱ	HOG000008164
HOVERGENⁱ	HBG062125
InParanoidⁱ	Q9BTV4
OMAⁱ	GDYFYHS
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0A4D
PhylomeDBⁱ	Q9BTV4
TreeFamⁱ	TF324718

Family and domain databases

InterProⁱ	View protein in InterPro IPR012430 TMEM43_fam
PANTHERⁱ	PTHR13416 PTHR13416, 1 hit
Pfam protein domain database More...Pfamⁱ	View 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]FASTA Add 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 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	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS2618.1
NCBI Reference Sequences More...RefSeqⁱ	NP_077310.1, NM_024334.2
UniGeneⁱ	Hs.517817

Genome annotation databases

Ensemblⁱ	ENST00000306077; ENSP00000303992; ENSG00000170876
GeneIDⁱ	79188
KEGGⁱ	hsa:79188
UCSC genome browser More...UCSCⁱ	uc003byk.3 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length
Q9BTV4	Transmembrane protein 43 isoform 1		HUMAN		400
UPI000175BE58		HUMAN		365

Protein	Similar proteins		Species	Score	Length
Q9BTV4	Transmembrane protein 43 isoform 1		HUMAN		400
UPI0006D8EBDF		wild yak		500
UPI000950F895		BOSIN		452
UPI0005FB8590		OVIMU		416
UPI0009056601		PANPR		403
+103

Protein	Similar proteins		Species	Score	Length
Q9BTV4	Transmembrane protein 43 isoform 1		HUMAN		400
UPI0006D8EBDF		wild yak		500
UPI000950F895		BOSIN		452
UPI0005FB8590		OVIMU		416
UPI00072D9A5D		ACIJB		403
+221

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS2618.1
NCBI Reference Sequences More...RefSeqⁱ	NP_077310.1, NM_024334.2
UniGeneⁱ	Hs.517817

3D structure databases

ProteinModelPortalⁱ	Q9BTV4
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	122601, 54 interactors
IntActⁱ	Q9BTV4, 36 interactors
Molecular INTeraction database More...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
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9BTV4
PaxDbⁱ	Q9BTV4
PeptideAtlas More...PeptideAtlasⁱ	Q9BTV4
PRIDEⁱ	Q9BTV4
ProteomicsDBⁱ	79012
TopDownProteomicsⁱ	Q9BTV4

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	79188
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000306077; ENSP00000303992; ENSG00000170876
GeneIDⁱ	79188
KEGGⁱ	hsa:79188
UCSC genome browser More...UCSCⁱ	uc003byk.3 human

Organism-specific databases

CTDⁱ	79188
DisGeNET More...DisGeNETⁱ	79188
EuPathDBⁱ	HostDB:ENSG00000170876.7
GeneCardsⁱ	TMEM43
GeneReviewsⁱ	TMEM43
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:28472 TMEM43
Human Protein Atlas More...HPAⁱ	HPA019198
MalaCards human disease database More...MalaCardsⁱ	TMEM43
MIMⁱ	604400 phenotype 612048 gene 614302 phenotype
neXtProtⁱ	NX_Q9BTV4
Open Targets More...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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IEFK Eukaryota ENOG410Z3TK LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000009671
HOGENOMⁱ	HOG000008164
HOVERGENⁱ	HBG062125
InParanoidⁱ	Q9BTV4
OMAⁱ	GDYFYHS
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0A4D
PhylomeDBⁱ	Q9BTV4
TreeFamⁱ	TF324718

Miscellaneous databases

ChiTaRSⁱ	TMEM43 human
GeneWikiⁱ	TMEM43
GenomeRNAiⁱ	79188
Protein Ontology More...PROⁱ	PR:Q9BTV4
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000170876
CleanExⁱ	HS_TMEM43
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
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF07787 TMEM43, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	TMM43_HUMAN
Accessionⁱ	Q9BTV4Primary (citable) accession number: Q9BTV4 Secondary accession number(s): Q7L4N5 , Q8NC30, Q96A63, Q96F19, Q96JX0, Q9H076
Entry historyⁱ	Integrated 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 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 proteome

Documents

Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
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
SIMILARITY comments
Index of protein domains and families

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UniRef

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Supporting data

UniProtKB - Q9BTV4 (TMM43_HUMAN)

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Transmembrane protein 43

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Endoplasmic reticulum

Nucleus

Endoplasmic reticulum

Golgi apparatus

Nucleus

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequence cautionⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ