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Q96C03

- MID49_HUMAN

UniProt

Q96C03 - MID49_HUMAN

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Protein
Mitochondrial dynamics protein MID49
Gene
MIEF2, MID49, SMCR7
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2222Mitochondrial intermembrane Reviewed prediction
Add
BLAST
Transmembranei23 – 4321Helical; Reviewed prediction
Add
BLAST
Topological domaini44 – 454411Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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 MID49
PRO_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.

Family & Domainsi

Sequence similaritiesi

Belongs to the MID49/MID51 family.

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

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.
VSP_047650
Alternative sequencei104 – 205102EGPAE…VLEPG → GEAAGLRAGPCDHPSSPGGF GQTAGWRHRPGAAGLLSEQV PGTALWGIRAWGAALRRAAG GGCGPCASPGATGAGAGPVE PGAGRGHCGEGPSLLGRAQD AA in isoform 2.
VSP_029358Add
BLAST
Alternative sequencei206 – 454249Missing in isoform 2.
VSP_029359Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti249 – 2491L → F in BAB71108. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 88 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

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