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Q96C03

- MID49_HUMAN

UniProt

Q96C03 - MID49_HUMAN

Protein

Mitochondrial dynamics protein MID49

Gene

MIEF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity.4 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. mitochondrion organization Source: UniProtKB
    2. positive regulation of mitochondrial fission Source: UniProtKB
    3. positive regulation of protein homooligomerization Source: UniProtKB
    4. positive regulation of protein targeting to membrane Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mitochondrial dynamics protein MID49
    Alternative name(s):
    Mitochondrial dynamics protein of 49 kDa
    Mitochondrial elongation factor 2
    Smith-Magenis syndrome chromosomal region candidate gene 7 protein
    Gene namesi
    Name:MIEF2
    Synonyms:MID49, SMCR7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:17920. MIEF2.

    Subcellular locationi

    Mitochondrion outer membrane 1 Publication; Single-pass membrane protein 1 Publication
    Note: Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria.

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion outer membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38265.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 454454Mitochondrial dynamics protein MID49PRO_0000310445Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei13 – 131Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ96C03.
    PRIDEiQ96C03.

    PTM databases

    PhosphoSiteiQ96C03.

    Expressioni

    Tissue specificityi

    Expressed in all tissues tested with highest expression in heart and skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiQ96C03.
    BgeeiQ96C03.
    CleanExiHS_SMCR7.
    GenevestigatoriQ96C03.

    Organism-specific databases

    HPAiHPA042334.

    Interactioni

    Subunit structurei

    Interacts with DNM1L.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    DNM1LO004293EBI-750153,EBI-724571
    RABAC1Q9UI143EBI-750153,EBI-712367

    Protein-protein interaction databases

    BioGridi125921. 6 interactions.
    IntActiQ96C03. 5 interactions.
    MINTiMINT-2878566.
    STRINGi9606.ENSP00000379057.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96C03.
    SMRiQ96C03. Positions 126-454.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2222Mitochondrial intermembraneSequence AnalysisAdd
    BLAST
    Topological domaini44 – 454411CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei23 – 4321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the MID49/MID51 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG29631.
    HOGENOMiHOG000038002.
    HOVERGENiHBG054078.
    InParanoidiQ96C03.
    OMAiGPLYDGL.
    OrthoDBiEOG7K9K2S.
    PhylomeDBiQ96C03.
    TreeFamiTF331032.

    Family and domain databases

    InterProiIPR024810. Mab-21_dom.
    [Graphical view]
    PfamiPF03281. Mab-21. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96C03-1) [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

    MAEFSQKRGK RRSDEGLGSM VDFLLANARL VLGVGGAAVL GIATLAVKRF    50
    IDRATSPRDE DDTKADSWKE LSLLKATPHL QPRPPPAALS QPVLPLAPSS 100
    SAPEGPAETD PEVTPQLSSP APLCLTLQER LLAFERDRVT IPAAQVALAK 150
    QLAGDIALEL QAYFRSKFPE LPFGAFVPGG PLYDGLQAGA ADHVRLLVPL 200
    VLEPGLWSLV PGVDTVARDP RCWAVRRTQL EFCPRGSSPW DRFLVGGYLS 250
    SRVLLELLRK ALAASVNWPA IGSLLGCLIR PSMASEELLL EVQHERLELT 300
    VAVLVAVPGV DADDRLLLAW PLEGLAGNLW LQDLYPVEAA RLRALDDHDA 350
    GTRRRLLLLL CAVCRGCSAL GQLGRGHLTQ VVLRLGEDNV DWTEEALGER 400
    FLQALELLIG SLEQASLPCH FNPSVNLFSS LREEEIDDIG YALYSGLQEP 450
    EGLL 454
    Length:454
    Mass (Da):49,269
    Last modified:December 1, 2001 - v1
    Checksum:iCEE9A444C0F8BC04
    GO
    Isoform 2 (identifier: Q96C03-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         104-205: EGPAETDPEV...LLVPLVLEPG → GEAAGLRAGP...SLLGRAQDAA
         206-454: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:205
    Mass (Da):20,559
    Checksum:iAEBE5803EDD0C967
    GO
    Isoform 3 (identifier: Q96C03-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MGLSPNLDRQTM

    Note: No experimental confirmation available.

    Show »
    Length:465
    Mass (Da):50,482
    Checksum:i249469573760B777
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti249 – 2491L → F in BAB71108. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti324 – 3241G → E.
    Corresponds to variant rs12603700 [ dbSNP | Ensembl ].
    VAR_037038
    Natural varianti354 – 3541R → Q.
    Corresponds to variant rs3751981 [ dbSNP | Ensembl ].
    VAR_037039

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MGLSPNLDRQTM in isoform 3. CuratedVSP_047650
    Alternative sequencei104 – 205102EGPAE…VLEPG → GEAAGLRAGPCDHPSSPGGF GQTAGWRHRPGAAGLLSEQV PGTALWGIRAWGAALRRAAG GGCGPCASPGATGAGAGPVE PGAGRGHCGEGPSLLGRAQD AA in isoform 2. 1 PublicationVSP_029358Add
    BLAST
    Alternative sequencei206 – 454249Missing in isoform 2. 1 PublicationVSP_029359Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF467443 mRNA. Translation: AAL78340.1.
    AK056165 mRNA. Translation: BAB71108.1.
    AK128310 mRNA. Translation: BAC87377.1.
    AC127537 Genomic DNA. No translation available.
    CH471196 Genomic DNA. Translation: EAW55651.1.
    CH471196 Genomic DNA. Translation: EAW55652.1.
    BC014973 mRNA. Translation: AAH14973.1.
    CCDSiCCDS11193.1. [Q96C03-1]
    CCDS45624.1. [Q96C03-3]
    CCDS45625.1. [Q96C03-2]
    RefSeqiNP_001138372.1. NM_001144900.1. [Q96C03-2]
    NP_631901.2. NM_139162.3. [Q96C03-1]
    NP_683684.2. NM_148886.1. [Q96C03-3]
    UniGeneiHs.655555.

    Genome annotation databases

    EnsembliENST00000323019; ENSP00000323591; ENSG00000177427. [Q96C03-1]
    ENST00000395704; ENSP00000379056; ENSG00000177427. [Q96C03-2]
    ENST00000395706; ENSP00000379057; ENSG00000177427. [Q96C03-3]
    GeneIDi125170.
    KEGGihsa:125170.
    UCSCiuc002gst.3. human. [Q96C03-1]
    uc002gsu.3. human. [Q96C03-2]

    Polymorphism databases

    DMDMi74731298.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF467443 mRNA. Translation: AAL78340.1 .
    AK056165 mRNA. Translation: BAB71108.1 .
    AK128310 mRNA. Translation: BAC87377.1 .
    AC127537 Genomic DNA. No translation available.
    CH471196 Genomic DNA. Translation: EAW55651.1 .
    CH471196 Genomic DNA. Translation: EAW55652.1 .
    BC014973 mRNA. Translation: AAH14973.1 .
    CCDSi CCDS11193.1. [Q96C03-1 ]
    CCDS45624.1. [Q96C03-3 ]
    CCDS45625.1. [Q96C03-2 ]
    RefSeqi NP_001138372.1. NM_001144900.1. [Q96C03-2 ]
    NP_631901.2. NM_139162.3. [Q96C03-1 ]
    NP_683684.2. NM_148886.1. [Q96C03-3 ]
    UniGenei Hs.655555.

    3D structure databases

    ProteinModelPortali Q96C03.
    SMRi Q96C03. Positions 126-454.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125921. 6 interactions.
    IntActi Q96C03. 5 interactions.
    MINTi MINT-2878566.
    STRINGi 9606.ENSP00000379057.

    PTM databases

    PhosphoSitei Q96C03.

    Polymorphism databases

    DMDMi 74731298.

    Proteomic databases

    PaxDbi Q96C03.
    PRIDEi Q96C03.

    Protocols and materials databases

    DNASUi 125170.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000323019 ; ENSP00000323591 ; ENSG00000177427 . [Q96C03-1 ]
    ENST00000395704 ; ENSP00000379056 ; ENSG00000177427 . [Q96C03-2 ]
    ENST00000395706 ; ENSP00000379057 ; ENSG00000177427 . [Q96C03-3 ]
    GeneIDi 125170.
    KEGGi hsa:125170.
    UCSCi uc002gst.3. human. [Q96C03-1 ]
    uc002gsu.3. human. [Q96C03-2 ]

    Organism-specific databases

    CTDi 125170.
    GeneCardsi GC17P018164.
    HGNCi HGNC:17920. MIEF2.
    HPAi HPA042334.
    MIMi 615498. gene.
    neXtProti NX_Q96C03.
    PharmGKBi PA38265.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG29631.
    HOGENOMi HOG000038002.
    HOVERGENi HBG054078.
    InParanoidi Q96C03.
    OMAi GPLYDGL.
    OrthoDBi EOG7K9K2S.
    PhylomeDBi Q96C03.
    TreeFami TF331032.

    Miscellaneous databases

    GenomeRNAii 125170.
    NextBioi 35535199.
    PROi Q96C03.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96C03.
    Bgeei Q96C03.
    CleanExi HS_SMCR7.
    Genevestigatori Q96C03.

    Family and domain databases

    InterProi IPR024810. Mab-21_dom.
    [Graphical view ]
    Pfami PF03281. Mab-21. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse."
      Bi W., Yan J., Stankiewicz P., Park S.-S., Walz K., Boerkoel C.F., Potocki L., Shaffer L.G., Devriendt K., Nowaczyk M.J.M., Inoue K., Lupski J.R.
      Genome Res. 12:713-728(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    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 1 AND 2).
      Tissue: Teratocarcinoma and Thymus.
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORM 1).
      Tissue: Skin.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-13, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "MiD49 and MiD51, new components of the mitochondrial fission machinery."
      Palmer C.S., Osellame L.D., Laine D., Koutsopoulos O.S., Frazier A.E., Ryan M.T.
      EMBO Rep. 12:565-573(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, FUNCTION, INTERACTION WITH DNM1L.
    8. "MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission."
      Palmer C.S., Elgass K.D., Parton R.G., Osellame L.D., Stojanovski D., Ryan M.T.
      J. Biol. Chem. 288:27584-27593(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    9. "Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in mitochondrial fission."
      Loson O.C., Song Z., Chen H., Chan D.C.
      Mol. Biol. Cell 24:659-667(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH DNM1L.
    10. "Interchangeable adaptors regulate mitochondrial dynamin assembly for membrane scission."
      Koirala S., Guo Q., Kalia R., Bui H.T., Eckert D.M., Frost A., Shaw J.M.
      Proc. Natl. Acad. Sci. U.S.A. 110:E1342-E1351(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH DNM1L, SUBUNIT.

    Entry informationi

    Entry nameiMID49_HUMAN
    AccessioniPrimary (citable) accession number: Q96C03
    Secondary accession number(s): J3KPT3, Q6ZRD4, Q96N07
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 13, 2007
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 89 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

    Miscellaneous

    Does not bind ADP or other nucleotides, in contrast to MIEF1.By similarity

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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