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O95202

- LETM1_HUMAN

UniProt

O95202 - LETM1_HUMAN

Protein

LETM1 and EF-hand domain-containing protein 1, mitochondrial

Gene

LETM1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain. Required for the maintenance of the tubular shape and cristae organization.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi676 – 68813PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. calcium ion binding Source: ProtInc
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. cristae formation Source: UniProtKB

    Keywords - Ligandi

    Calcium, Metal-binding

    Protein family/group databases

    TCDBi2.A.97.1.1. the mitochondrial inner membrane k(+)/h(+) and ca(2+)/h(+) exchanger (letm1) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    LETM1 and EF-hand domain-containing protein 1, mitochondrial
    Alternative name(s):
    Leucine zipper-EF-hand-containing transmembrane protein 1
    Gene namesi
    Name:LETM1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:6556. LETM1.

    Subcellular locationi

    Mitochondrion inner membrane 3 Publications; Single-pass membrane protein 3 Publications

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane Source: UniProtKB
    3. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti280. Wolf-Hirschhorn syndrome.
    PharmGKBiPA30335.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 115115MitochondrionSequence AnalysisAdd
    BLAST
    Chaini116 – 739624LETM1 and EF-hand domain-containing protein 1, mitochondrialPRO_0000017694Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei597 – 5971N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO95202.
    PaxDbiO95202.
    PeptideAtlasiO95202.
    PRIDEiO95202.

    PTM databases

    PhosphoSiteiO95202.

    Expressioni

    Gene expression databases

    ArrayExpressiO95202.
    BgeeiO95202.
    CleanExiHS_LETM1.
    GenevestigatoriO95202.

    Organism-specific databases

    HPAiHPA011029.
    HPA011100.

    Interactioni

    Subunit structurei

    Can form 2 complexes: a major (300 kDa) and a minor complex (500-600 kDa). Interacts with BCS1L.1 Publication

    Protein-protein interaction databases

    BioGridi110145. 8 interactions.
    IntActiO95202. 6 interactions.
    MINTiMINT-3002664.
    STRINGi9606.ENSP00000305653.

    Structurei

    3D structure databases

    ProteinModelPortaliO95202.
    SMRiO95202. Positions 252-418.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini116 – 20893Mitochondrial intermembraneSequence AnalysisAdd
    BLAST
    Topological domaini230 – 739510Mitochondrial matrixSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei209 – 22921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini150 – 418269LETM1Add
    BLAST
    Domaini663 – 69836EF-handPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili115 – 13622Sequence AnalysisAdd
    BLAST
    Coiled coili462 – 49029Sequence AnalysisAdd
    BLAST
    Coiled coili537 – 62791Sequence AnalysisAdd
    BLAST
    Coiled coili708 – 73932Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi18 – 214Poly-Pro

    Sequence similaritiesi

    Contains 1 EF-hand domain.PROSITE-ProRule annotation
    Contains 1 LETM1 domain.Curated

    Keywords - Domaini

    Coiled coil, Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG243495.
    HOGENOMiHOG000290246.
    HOVERGENiHBG052322.
    InParanoidiO95202.
    KOiK17800.
    OMAiHQEIPTS.
    OrthoDBiEOG79PJNQ.
    PhylomeDBiO95202.
    TreeFamiTF316321.

    Family and domain databases

    Gene3Di1.10.238.10. 1 hit.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR002048. EF_hand_dom.
    IPR011685. LETM1.
    [Graphical view]
    PfamiPF07766. LETM1. 1 hit.
    [Graphical view]
    PROSITEiPS00018. EF_HAND_1. 1 hit.
    PS50222. EF_HAND_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O95202-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MASILLRSCR GRAPARLPPP PRYTVPRGSP GDPAHLSCAS TLGLRNCLNV    50
    PFGCCTPIHP VYTSSRGDHL GCWALRPECL RIVSRAPWTS TSVGFVAVGP 100
    QCLPVRGWHS SRPVRDDSVV EKSLKSLKDK NKKLEEGGPV YSPPAEVVVK 150
    KSLGQRVLDE LKHYYHGFRL LWIDTKIAAR MLWRILNGHS LTRRERRQFL 200
    RICADLFRLV PFLVFVVVPF MEFLLPVAVK LFPNMLPSTF ETQSLKEERL 250
    KKELRVKLEL AKFLQDTIEE MALKNKAAKG SATKDFSVFF QKIRETGERP 300
    SNEEIMRFSK LFEDELTLDN LTRPQLVALC KLLELQSIGT NNFLRFQLTM 350
    RLRSIKADDK LIAEEGVDSL NVKELQAACR ARGMRALGVT EDRLRGQLKQ 400
    WLDLHLHQEI PTSLLILSRA MYLPDTLSPA DQLKSTLQTL PEIVAKEAQV 450
    KVAEVEGEQV DNKAKLEATL QEEAAIQQEH REKELQKRSE VAKDFEPERV 500
    VAAPQRPGTE PQPEMPDTVL QSETLKDTAP VLEGLKEEEI TKEEIDILSD 550
    ACSKLQEQKK SLTKEKEELE LLKEDVQDYS EDLQEIKKEL SKTGEEKYVE 600
    ESKASKRLTK RVQQMIGQID GLISQLEMDQ QAGKLAPANG MPTGENVISV 650
    AELINAMKQV KHIPESKLTS LAAALDENKD GKVNIDDLVK VIELVDKEDV 700
    HISTSQVAEI VATLEKEEKV EEKEKAKEKA EKEVAEVKS 739
    Length:739
    Mass (Da):83,354
    Last modified:May 1, 1999 - v1
    Checksum:i942E9138F299D94F
    GO
    Isoform 2 (identifier: O95202-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-48: MASILLRSCRGRAPARLPPPPRYTVPRGSPGDPAHLSCASTLGLRNCL → MRHTWPFR
         292-294: KIR → QVL
         295-739: Missing.

    Note: May be due to intron retention. No experimental confirmation available.

    Show »
    Length:254
    Mass (Da):29,291
    Checksum:i5510CB4D93FFDDDE
    GO
    Isoform 3 (identifier: O95202-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         292-294: KIR → QVL
         295-739: Missing.

    Note: May be due to intron retention.

    Show »
    Length:294
    Mass (Da):33,245
    Checksum:i5C8B98ECA4D20E42
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4848MASIL…LRNCL → MRHTWPFR in isoform 2. 2 PublicationsVSP_037814Add
    BLAST
    Alternative sequencei292 – 2943KIR → QVL in isoform 2 and isoform 3. 2 PublicationsVSP_037815
    Alternative sequencei295 – 739445Missing in isoform 2 and isoform 3. 2 PublicationsVSP_037816Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF061025 mRNA. Translation: AAD13138.1.
    AK293572 mRNA. Translation: BAG57043.1.
    AK310563 mRNA. No translation available.
    AL133650 mRNA. Translation: CAB63769.2. Sequence problems.
    BC014500 mRNA. Translation: AAH14500.1.
    BC021208 mRNA. Translation: AAH21208.1.
    CCDSiCCDS3355.1. [O95202-1]
    PIRiT43494.
    RefSeqiNP_036450.1. NM_012318.2. [O95202-1]
    UniGeneiHs.120165.

    Genome annotation databases

    EnsembliENST00000302787; ENSP00000305653; ENSG00000168924. [O95202-1]
    GeneIDi3954.
    KEGGihsa:3954.
    UCSCiuc003gdv.3. human. [O95202-1]
    uc011bvg.2. human. [O95202-3]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF061025 mRNA. Translation: AAD13138.1 .
    AK293572 mRNA. Translation: BAG57043.1 .
    AK310563 mRNA. No translation available.
    AL133650 mRNA. Translation: CAB63769.2 . Sequence problems.
    BC014500 mRNA. Translation: AAH14500.1 .
    BC021208 mRNA. Translation: AAH21208.1 .
    CCDSi CCDS3355.1. [O95202-1 ]
    PIRi T43494.
    RefSeqi NP_036450.1. NM_012318.2. [O95202-1 ]
    UniGenei Hs.120165.

    3D structure databases

    ProteinModelPortali O95202.
    SMRi O95202. Positions 252-418.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110145. 8 interactions.
    IntActi O95202. 6 interactions.
    MINTi MINT-3002664.
    STRINGi 9606.ENSP00000305653.

    Protein family/group databases

    TCDBi 2.A.97.1.1. the mitochondrial inner membrane k(+)/h(+) and ca(2+)/h(+) exchanger (letm1) family.

    PTM databases

    PhosphoSitei O95202.

    Proteomic databases

    MaxQBi O95202.
    PaxDbi O95202.
    PeptideAtlasi O95202.
    PRIDEi O95202.

    Protocols and materials databases

    DNASUi 3954.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000302787 ; ENSP00000305653 ; ENSG00000168924 . [O95202-1 ]
    GeneIDi 3954.
    KEGGi hsa:3954.
    UCSCi uc003gdv.3. human. [O95202-1 ]
    uc011bvg.2. human. [O95202-3 ]

    Organism-specific databases

    CTDi 3954.
    GeneCardsi GC04M001781.
    HGNCi HGNC:6556. LETM1.
    HPAi HPA011029.
    HPA011100.
    MIMi 604407. gene.
    neXtProti NX_O95202.
    Orphaneti 280. Wolf-Hirschhorn syndrome.
    PharmGKBi PA30335.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG243495.
    HOGENOMi HOG000290246.
    HOVERGENi HBG052322.
    InParanoidi O95202.
    KOi K17800.
    OMAi HQEIPTS.
    OrthoDBi EOG79PJNQ.
    PhylomeDBi O95202.
    TreeFami TF316321.

    Miscellaneous databases

    ChiTaRSi LETM1. human.
    GeneWikii LETM1.
    GenomeRNAii 3954.
    NextBioi 15513.
    PROi O95202.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95202.
    Bgeei O95202.
    CleanExi HS_LETM1.
    Genevestigatori O95202.

    Family and domain databases

    Gene3Di 1.10.238.10. 1 hit.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR002048. EF_hand_dom.
    IPR011685. LETM1.
    [Graphical view ]
    Pfami PF07766. LETM1. 1 hit.
    [Graphical view ]
    PROSITEi PS00018. EF_HAND_1. 1 hit.
    PS50222. EF_HAND_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients."
      Endele S., Fuhry M., Pak S.-J., Zabel B.U., Winterpacht A.
      Genomics 60:218-225(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "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] (ISOFORMS 2 AND 3).
      Tissue: Cerebellum and Thymus.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    4. "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] (ISOFORM 1).
      Tissue: Brain and Skin.
    5. "LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein."
      Schlickum S., Moghekar A., Simpson J.C., Steglich C., O'Brien R.J., Winterpacht A., Endele S.U.
      Genomics 83:254-261(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    6. "The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome."
      Nowikovsky K., Froschauer E.M., Zsurka G., Samaj J., Reipert S., Kolisek M., Wiesenberger G., Schweyen R.J.
      J. Biol. Chem. 279:30307-30315(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    7. "Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L."
      Tamai S., Iida H., Yokota S., Sayano T., Kiguchiya S., Ishihara N., Hayashi J., Mihara K., Oka T.
      J. Cell Sci. 121:2588-2600(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, INTERACTION WITH BCS1L.
    8. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-597, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiLETM1_HUMAN
    AccessioniPrimary (citable) accession number: O95202
    Secondary accession number(s): B4DED2, Q9UF65
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 12, 2005
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 119 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 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3