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Q9BTV4

- TMM43_HUMAN

UniProt

Q9BTV4 - TMM43_HUMAN

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Protein

Transmembrane protein 43

Gene
TMEM43, UNQ2564/PRO6244
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. protein binding Source: UniProtKB
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: 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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 3130Nuclear Reviewed predictionAdd
BLAST
Transmembranei32 – 5221Helical; Reviewed predictionAdd
BLAST
Topological domaini53 – 313261Perinuclear space Reviewed predictionAdd
BLAST
Transmembranei314 – 33421Helical; Reviewed predictionAdd
BLAST
Topological domaini335 – 34511Nuclear Reviewed predictionAdd
BLAST
Transmembranei346 – 36621Helical; Reviewed predictionAdd
BLAST
Topological domaini367 – 3682Perinuclear space Reviewed prediction
Transmembranei369 – 38921Helical; Reviewed predictionAdd
BLAST
Topological domaini390 – 40011Nuclear Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-SubCell
  2. Golgi apparatus Source: LIFEdb
  3. integral component of membrane Source: UniProtKB-KW
  4. nuclear inner membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti358 – 3581S → L in ARVD5. 1 Publication
VAR_044438
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.1 Publication
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

ArrayExpressiQ9BTV4.
BgeeiQ9BTV4.
CleanExiHS_TMEM43.
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 SUN2.1 Publication

Protein-protein interaction databases

BioGridi122601. 16 interactions.
IntActiQ9BTV4. 3 interactions.
MINTiMINT-1401714.
STRINGi9606.ENSP00000303992.

Structurei

3D structure databases

ProteinModelPortaliQ9BTV4.

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM43 family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG72539.
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

MAANYSSTST RREHVKVKTS SQPGFLERLS ETSGGMFVGL MAFLLSFYLI    50
FTNEGRALKT ATSLAEGLSL VVSPDSIHSV APENEGRLVH IIGALRTSKL 100
LSDPNYGVHL PAVKLRRHVE MYQWVETEES REYTEDGQVK KETRYSYNTE 150
WRSEIINSKN FDREIGHKNP SAMAVESFMA TAPFVQIGRF FLSSGLIDKV 200
DNFKSLSLSK LEDPHVDIIR RGDFFYHSEN PKYPEVGDLR VSFSYAGLSG 250
DDPDLGPAHV VTVIARQRGD QLVPFSTKSG DTLLLLHHGD FSAEEVFHRE 300
LRSNSMKTWG LRAAGWMAMF MGLNLMTRIL YTLVDWFPVF RDLVNIGLKA 350
FAFCVATSLT LLTVAAGWLF YRPLWALLIA GLALVPILVA RTRVPAKKLE 400
Length:400
Mass (Da):44,876
Last modified:June 1, 2001 - v1
Checksum:i70FDDD4ED1AA11DF
GO

Sequence cautioni

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti196 – 1961L → P in BAC11350. 1 Publication
Sequence conflicti338 – 3381P → L in AAH11719. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.517817.

3D structure databases

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

Protein-protein interaction databases

BioGridi 122601. 16 interactions.
IntActi Q9BTV4. 3 interactions.
MINTi MINT-1401714.
STRINGi 9606.ENSP00000303992.

PTM databases

PhosphoSitei Q9BTV4.

Polymorphism databases

DMDMi 74733151.

Proteomic databases

MaxQBi Q9BTV4.
PaxDbi Q9BTV4.
PeptideAtlasi Q9BTV4.
PRIDEi Q9BTV4.

Protocols and materials databases

DNASUi 79188.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000306077 ; ENSP00000303992 ; ENSG00000170876 .
GeneIDi 79188.
KEGGi hsa:79188.
UCSCi uc003byk.2. human.

Organism-specific databases

CTDi 79188.
GeneCardsi GC03P014142.
GeneReviewsi TMEM43.
HGNCi HGNC:28472. TMEM43.
HPAi HPA019198.
MIMi 604400. phenotype.
612048. gene.
614302. phenotype.
neXtProti NX_Q9BTV4.
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 NOG72539.
HOGENOMi HOG000008164.
HOVERGENi HBG062125.
InParanoidi Q9BTV4.
OMAi GDYFYHS.
OrthoDBi EOG7V766S.
PhylomeDBi Q9BTV4.
TreeFami TF324718.

Miscellaneous databases

GeneWikii TMEM43.
GenomeRNAii 79188.
NextBioi 68188.
PROi Q9BTV4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BTV4.
Bgeei Q9BTV4.
CleanExi HS_TMEM43.
Genevestigatori Q9BTV4.

Family and domain databases

InterProi IPR012430. TMEM43_fam.
[Graphical view ]
PANTHERi PTHR13416. PTHR13416. 1 hit.
Pfami PF07787. DUF1625. 1 hit.
[Graphical view ]
ProtoNeti Search...

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(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.
    , 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. 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.

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 17, 2007
Last sequence update: June 1, 2001
Last modified: September 3, 2014
This is version 102 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

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