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UniProtKB - Q9BTV4 (TMM43_HUMAN)

Entry version 153 (10 Feb 2021)
Sequence version 1 (01 Jun 2001)
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Protein

Transmembrane protein 43

Gene

TMEM43

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

  • nuclear membrane organization Source: MGI
Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BTV4

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transmembrane protein 43
Alternative name(s):
Protein LUMA
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TMEM43
ORF Names:UNQ2564/PRO6244
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:28472, TMEM43

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612048, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BTV4

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000170876.7

<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

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini2 – 31NuclearSequence analysisAdd BLAST30
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5)1 Publication
The disease is caused by variants 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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 variants 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 OMIM
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 variant, Emery-Dreifuss muscular dystrophy

Organism-specific databases

DisGeNET

More...DisGeNETi		79188

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		TMEM43

MalaCards human disease database

More...MalaCardsi		TMEM43
MIMi604400, phenotype
614302, phenotype

Open Targets

More...OpenTargetsi		ENSG00000170876

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134871907

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BTV4, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TMEM43

Domain mapping of disease mutations (DMDM)

More...DMDMi		74733151

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002844982 – 400Transmembrane protein 43Add BLAST399

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-1646

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BTV4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BTV4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BTV4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BTV4

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BTV4

PeptideAtlas

More...PeptideAtlasi		Q9BTV4

PRoteomics IDEntifications database

More...PRIDEi		Q9BTV4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79012

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q9BTV4

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9BTV4, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BTV4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BTV4

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9BTV4

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000170876, Expressed in prostate gland and 235 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BTV4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BTV4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000170876, Low tissue specificity

<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>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		122601, 102 interactors

Protein interaction database and analysis system

More...IntActi		Q9BTV4, 59 interactors

Molecular INTeraction database

More...MINTi		Q9BTV4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000303992

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BTV4, protein

<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

Belongs to the TMEM43 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QSR2, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000009671

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_042602_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BTV4

Identification of Orthologs from Complete Genome Data

More...OMAi		HTWWWRF

Database of Orthologous Groups

More...OrthoDBi		866982at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BTV4

TreeFam database of animal gene trees

More...TreeFami		TF324718

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR012430, TMEM43_fam

The PANTHER Classification System

More...PANTHERi		PTHR13416, PTHR13416, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07787, TMEM43, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i70FDDD4ED1AA11DF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WDL3F8WDL3_HUMAN
Transmembrane protein 43
TMEM43
66Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<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

The sequence BAB55396 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000306077; ENSP00000303992; ENSG00000170876

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79188

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79188

UCSC genome browser

More...UCSCi		uc003byk.3, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

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

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi122601, 102 interactors
IntActiQ9BTV4, 59 interactors
MINTiQ9BTV4
STRINGi9606.ENSP00000303992

PTM databases

GlyGeniQ9BTV4, 1 site
iPTMnetiQ9BTV4
PhosphoSitePlusiQ9BTV4
SwissPalmiQ9BTV4

Genetic variation databases

BioMutaiTMEM43
DMDMi74733151

Proteomic databases

CPTACiCPTAC-1646
EPDiQ9BTV4
jPOSTiQ9BTV4
MassIVEiQ9BTV4
MaxQBiQ9BTV4
PaxDbiQ9BTV4
PeptideAtlasiQ9BTV4
PRIDEiQ9BTV4
ProteomicsDBi79012
TopDownProteomicsiQ9BTV4

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		10951, 117 antibodies

The DNASU plasmid repository

More...DNASUi		79188

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79188
DisGeNETi79188

GeneCards: human genes, protein and diseases

More...GeneCardsi		TMEM43
GeneReviewsiTMEM43
HGNCiHGNC:28472, TMEM43
HPAiENSG00000170876, Low tissue specificity
MalaCardsiTMEM43
MIMi604400, phenotype
612048, gene
614302, phenotype
neXtProtiNX_Q9BTV4
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
VEuPathDBiHostDB:ENSG00000170876.7

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QSR2, Eukaryota
GeneTreeiENSGT00390000009671
HOGENOMiCLU_042602_1_0_1
InParanoidiQ9BTV4
OMAiHTWWWRF
OrthoDBi866982at2759
PhylomeDBiQ9BTV4
TreeFamiTF324718

Enzyme and pathway databases

PathwayCommonsiQ9BTV4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		79188, 2 hits in 876 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		TMEM43, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TMEM43

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		79188
PharosiQ9BTV4, Tbio

Protein Ontology

More...PROi		PR:Q9BTV4
RNActiQ9BTV4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000170876, Expressed in prostate gland and 235 other tissues
ExpressionAtlasiQ9BTV4, baseline and differential
GenevisibleiQ9BTV4, HS

Family and domain databases

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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTMM43_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BTV4
Secondary accession number(s): Q7L4N5
, Q8NC30, Q96A63, Q96F19, Q96JX0, Q9H076
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: June 1, 2001
Last modified: February 10, 2021
This is version 153 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<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

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
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