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Q9BTV4 (TMM43_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane protein 43
Alternative name(s):
Protein LUMA
Gene names
Name:TMEM43
ORF Names:UNQ2564/PRO6244
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length400 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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. Ref.8

Subcellular location

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.

Tissue specificity

Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis. Ref.6

Involvement in disease

Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) [MIM:604400]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the TMEM43 family.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.7
Chain2 – 400399Transmembrane protein 43
PRO_0000284498

Regions

Topological domain2 – 3130Nuclear Potential
Transmembrane32 – 5221Helical; Potential
Topological domain53 – 313261Perinuclear space Potential
Transmembrane314 – 33421Helical; Potential
Topological domain335 – 34511Nuclear Potential
Transmembrane346 – 36621Helical; Potential
Topological domain367 – 3682Perinuclear space Potential
Transmembrane369 – 38921Helical; Potential
Topological domain390 – 40011Nuclear Potential

Amino acid modifications

Modified residue21N-acetylalanine Ref.7

Natural variations

Natural variant851E → 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. Ref.8
VAR_069794
Natural variant911I → 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. Ref.8
VAR_069795
Natural variant1681K → N. Ref.1 Ref.3 Ref.5
Corresponds to variant rs4685076 [ dbSNP | Ensembl ].
VAR_031751
Natural variant1791M → T. Ref.1 Ref.3 Ref.5
Corresponds to variant rs2340917 [ dbSNP | Ensembl ].
VAR_031752
Natural variant2331Y → C.
Corresponds to variant rs35924492 [ dbSNP | Ensembl ].
VAR_031753
Natural variant3181A → V.
Corresponds to variant rs11924644 [ dbSNP | Ensembl ].
VAR_031754
Natural variant3581S → L in ARVD5. Ref.11
VAR_044438

Experimental info

Sequence conflict1961L → P in BAC11350. Ref.4
Sequence conflict3381P → L in AAH11719. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q9BTV4 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 70FDDD4ED1AA11DF

FASTA40044,876
        10         20         30         40         50         60 
MAANYSSTST RREHVKVKTS SQPGFLERLS ETSGGMFVGL MAFLLSFYLI FTNEGRALKT 

        70         80         90        100        110        120 
ATSLAEGLSL VVSPDSIHSV APENEGRLVH IIGALRTSKL LSDPNYGVHL PAVKLRRHVE 

       130        140        150        160        170        180 
MYQWVETEES REYTEDGQVK KETRYSYNTE WRSEIINSKN FDREIGHKNP SAMAVESFMA 

       190        200        210        220        230        240 
TAPFVQIGRF FLSSGLIDKV DNFKSLSLSK LEDPHVDIIR RGDFFYHSEN PKYPEVGDLR 

       250        260        270        280        290        300 
VSFSYAGLSG DDPDLGPAHV VTVIARQRGD QLVPFSTKSG DTLLLLHHGD FSAEEVFHRE 

       310        320        330        340        350        360 
LRSNSMKTWG LRAAGWMAMF MGLNLMTRIL YTLVDWFPVF RDLVNIGLKA FAFCVATSLT 

       370        380        390        400 
LLTVAAGWLF YRPLWALLIA GLALVPILVA RTRVPAKKLE 

« Hide

References

« Hide 'large scale' references
[1]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ASN-168 AND THR-179.
Tissue: Uterus.
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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(2004) [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. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [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(2004) [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(2008) [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(2009) [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(2011) [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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"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(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ARVD5 LEU-358.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_077310.1. NM_024334.2.
UniGeneHs.517817.

3D structure databases

ProteinModelPortalQ9BTV4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122601. 15 interactions.
IntActQ9BTV4. 3 interactions.
MINTMINT-1401714.
STRING9606.ENSP00000303992.

PTM databases

PhosphoSiteQ9BTV4.

Polymorphism databases

DMDM74733151.

Proteomic databases

PaxDbQ9BTV4.
PeptideAtlasQ9BTV4.
PRIDEQ9BTV4.

Protocols and materials databases

DNASU79188.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000306077; ENSP00000303992; ENSG00000170876.
GeneID79188.
KEGGhsa:79188.
UCSCuc003byk.2. human.

Organism-specific databases

CTD79188.
GeneCardsGC03P014142.
HGNCHGNC:28472. TMEM43.
HPAHPA019198.
MIM604400. phenotype.
612048. gene.
614302. phenotype.
neXtProtNX_Q9BTV4.
Orphanet98853. 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.
PharmGKBPA134871907.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG72539.
HOGENOMHOG000008164.
HOVERGENHBG062125.
InParanoidQ9BTV4.
OMAYFYHSEN.
OrthoDBEOG7V766S.
PhylomeDBQ9BTV4.
TreeFamTF324718.

Gene expression databases

ArrayExpressQ9BTV4.
BgeeQ9BTV4.
CleanExHS_TMEM43.
GenevestigatorQ9BTV4.

Family and domain databases

InterProIPR012430. TMEM43_fam.
[Graphical view]
PANTHERPTHR13416. PTHR13416. 1 hit.
PfamPF07787. DUF1625. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTMEM43.
GenomeRNAi79188.
NextBio68188.
PROQ9BTV4.
SOURCESearch...

Entry information

Entry nameTMM43_HUMAN
AccessionPrimary (citable) accession number: Q9BTV4
Secondary accession number(s): Q7L4N5 expand/collapse secondary AC list , Q8NC30, Q96A63, Q96F19, Q96JX0, Q9H076
Entry history
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: June 1, 2001
Last modified: March 19, 2014
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM