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Q9BTV4

- TMM43_HUMAN

UniProt

Q9BTV4 - TMM43_HUMAN

Protein

Transmembrane protein 43

Gene

TMEM43

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    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

    1. protein binding Source: UniProtKB

    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.By similarity

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.By similarity1 Publication

    Protein-protein interaction databases

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

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BTV4.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 3130NuclearSequence AnalysisAdd
    BLAST
    Topological domaini53 – 313261Perinuclear spaceSequence AnalysisAdd
    BLAST
    Topological domaini335 – 34511NuclearSequence AnalysisAdd
    BLAST
    Topological domaini367 – 3682Perinuclear spaceSequence Analysis
    Topological domaini390 – 40011NuclearSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei32 – 5221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei314 – 33421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei346 – 36621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei369 – 38921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TMEM43 family.Curated

    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.

    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:
    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

    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: October 1, 2014
    This is version 103 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