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Protein

Transmembrane protein 43

Gene

TMEM43

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 - Biological processi

  1. nuclear membrane organization Source: MGI
Complete GO annotation...

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
ProteomesiUP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:28472. TMEM43.

Subcellular locationi

Endoplasmic reticulum By similarity. Nucleus inner membrane; Multi-pass membrane protein
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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 3130NuclearSequence AnalysisAdd
BLAST
Transmembranei32 – 5221HelicalSequence AnalysisAdd
BLAST
Topological domaini53 – 313261Perinuclear spaceSequence AnalysisAdd
BLAST
Transmembranei314 – 33421HelicalSequence AnalysisAdd
BLAST
Topological domaini335 – 34511NuclearSequence AnalysisAdd
BLAST
Transmembranei346 – 36621HelicalSequence AnalysisAdd
BLAST
Topological domaini367 – 3682Perinuclear spaceSequence Analysis
Transmembranei369 – 38921HelicalSequence AnalysisAdd
BLAST
Topological domaini390 – 40011NuclearSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum lumen Source: Ensembl
  2. Golgi apparatus Source: LIFEdb
  3. integral component of nuclear inner membrane Source: Ensembl
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti358 – 3581S → L in ARVD5. 1 Publication
VAR_044438
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851E → 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 Publication
VAR_069794
Natural varianti91 – 911I → 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 Publication
VAR_069795

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Emery-Dreifuss muscular dystrophy

Organism-specific databases

MIMi604400. phenotype.
614302. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 400399Transmembrane protein 43PRO_0000284498Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9BTV4.
PaxDbiQ9BTV4.
PeptideAtlasiQ9BTV4.
PRIDEiQ9BTV4.

PTM databases

PhosphoSiteiQ9BTV4.

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

BgeeiQ9BTV4.
CleanExiHS_TMEM43.
ExpressionAtlasiQ9BTV4. baseline and differential.
GenevestigatoriQ9BTV4.

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

Protein-protein interaction databases

BioGridi122601. 25 interactions.
IntActiQ9BTV4. 3 interactions.
MINTiMINT-1401714.
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

eggNOGiNOG72539.
GeneTreeiENSGT00390000009671.
HOGENOMiHOG000008164.
HOVERGENiHBG062125.
InParanoidiQ9BTV4.
OMAiGDYFYHS.
OrthoDBiEOG7V766S.
PhylomeDBiQ9BTV4.
TreeFamiTF324718.

Family and domain databases

InterProiIPR012430. TMEM43_fam.
[Graphical view]
PANTHERiPTHR13416. PTHR13416. 1 hit.
PfamiPF07787. DUF1625. 1 hit.
[Graphical view]

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:May 31, 2001 - v1
Checksum:i70FDDD4ED1AA11DF
GO

Sequence cautioni

The sequence BAB55396.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti196 – 1961L → P in BAC11350 (PubMed:16303743).Curated
Sequence conflicti338 – 3381P → L in AAH11719 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851E → 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 Publication
VAR_069794
Natural varianti91 – 911I → 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 Publication
VAR_069795
Natural varianti168 – 1681K → N.3 Publications
Corresponds to variant rs4685076 [ dbSNP | Ensembl ].
VAR_031751
Natural varianti179 – 1791M → T.3 Publications
Corresponds to variant rs2340917 [ dbSNP | Ensembl ].
VAR_031752
Natural varianti233 – 2331Y → C.
Corresponds to variant rs35924492 [ dbSNP | Ensembl ].
VAR_031753
Natural varianti318 – 3181A → V.
Corresponds to variant rs11924644 [ dbSNP | Ensembl ].
VAR_031754
Natural varianti358 – 3581S → L in ARVD5. 1 Publication
VAR_044438

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.2. human.

Polymorphism databases

DMDMi74733151.

Keywords - Coding sequence diversityi

Polymorphism

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.
UniGeneiHs.517817.

3D structure databases

ProteinModelPortaliQ9BTV4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122601. 25 interactions.
IntActiQ9BTV4. 3 interactions.
MINTiMINT-1401714.
STRINGi9606.ENSP00000303992.

PTM databases

PhosphoSiteiQ9BTV4.

Polymorphism databases

DMDMi74733151.

Proteomic databases

MaxQBiQ9BTV4.
PaxDbiQ9BTV4.
PeptideAtlasiQ9BTV4.
PRIDEiQ9BTV4.

Protocols and materials databases

DNASUi79188.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306077; ENSP00000303992; ENSG00000170876.
GeneIDi79188.
KEGGihsa:79188.
UCSCiuc003byk.2. human.

Organism-specific databases

CTDi79188.
GeneCardsiGC03P014142.
GeneReviewsiTMEM43.
HGNCiHGNC:28472. TMEM43.
HPAiHPA019198.
MIMi604400. phenotype.
612048. gene.
614302. phenotype.
neXtProtiNX_Q9BTV4.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG72539.
GeneTreeiENSGT00390000009671.
HOGENOMiHOG000008164.
HOVERGENiHBG062125.
InParanoidiQ9BTV4.
OMAiGDYFYHS.
OrthoDBiEOG7V766S.
PhylomeDBiQ9BTV4.
TreeFamiTF324718.

Miscellaneous databases

GeneWikiiTMEM43.
GenomeRNAii79188.
NextBioi68188.
PROiQ9BTV4.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BTV4.
CleanExiHS_TMEM43.
ExpressionAtlasiQ9BTV4. baseline and differential.
GenevestigatoriQ9BTV4.

Family and domain databases

InterProiIPR012430. TMEM43_fam.
[Graphical view]
PANTHERiPTHR13416. PTHR13416. 1 hit.
PfamiPF07787. DUF1625. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ASN-168 AND THR-179.
    Tissue: Uterus.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ASN-168 AND THR-179.
    Tissue: Placenta and Thyroid.
  4. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ASN-168 AND THR-179.
    Tissue: Brain, Ovary and Uterus.
  6. "LUMA interacts with emerin and influences its distribution at the inner nuclear membrane."
    Bengtsson L., Otto H.
    J. Cell Sci. 121:536-548(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  8. "TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy."
    Liang W.C., Mitsuhashi H., Keduka E., Nonaka I., Noguchi S., Nishino I., Hayashi Y.K.
    Ann. Neurol. 69:1005-1013(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SUN2, VARIANTS EDMD7 LYS-85 AND VAL-91, CHARACTERIZATION OF VARIANTS EDMD7 LYS-85 AND VAL-91.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  12. "Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene."
    Merner N.D., Hodgkinson K.A., Haywood A.F.M., Connors S., French V.M., Drenckhahn J.-D., Kupprion C., Ramadanova K., Thierfelder L., McKenna W., Gallagher B., Morris-Larkin L., Bassett A.S., Parfrey P.S., Young T.-L.
    Am. J. Hum. Genet. 82:809-821(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARVD5 LEU-358.

Entry informationi

Entry nameiTMM43_HUMAN
AccessioniPrimary (citable) accession number: Q9BTV4
Secondary accession number(s): Q7L4N5
, Q8NC30, Q96A63, Q96F19, Q96JX0, Q9H076
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 16, 2007
Last sequence update: May 31, 2001
Last modified: March 3, 2015
This is version 107 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.