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Q96C03 (MID49_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:MIEF2
Synonyms:MID49, SMCR7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length454 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.7 Ref.8 Ref.9 Ref.10

Subunit structure

Interacts with DNM1L. Ref.7 Ref.9 Ref.10

Subcellular location

Mitochondrion outer membrane; Single-pass membrane protein. Note: Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria. Ref.7

Tissue specificity

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

Miscellaneous

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

Sequence similarities

Belongs to the MID49/MID51 family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

DNM1LO004293EBI-750153,EBI-724571
RABAC1Q9UI143EBI-750153,EBI-712367

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96C03-1)

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.
Isoform 2 (identifier: Q96C03-2)

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.
Isoform 3 (identifier: Q96C03-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGLSPNLDRQTM
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 454454Mitochondrial dynamics protein MID49
PRO_0000310445

Regions

Topological domain1 – 2222Mitochondrial intermembrane Potential
Transmembrane23 – 4321Helical; Potential
Topological domain44 – 454411Cytoplasmic Potential

Amino acid modifications

Modified residue131Phosphoserine Ref.6

Natural variations

Alternative sequence11M → MGLSPNLDRQTM in isoform 3.
VSP_047650
Alternative sequence104 – 205102EGPAE…VLEPG → GEAAGLRAGPCDHPSSPGGF GQTAGWRHRPGAAGLLSEQV PGTALWGIRAWGAALRRAAG GGCGPCASPGATGAGAGPVE PGAGRGHCGEGPSLLGRAQD AA in isoform 2.
VSP_029358
Alternative sequence206 – 454249Missing in isoform 2.
VSP_029359
Natural variant3241G → E.
Corresponds to variant rs12603700 [ dbSNP | Ensembl ].
VAR_037038
Natural variant3541R → Q.
Corresponds to variant rs3751981 [ dbSNP | Ensembl ].
VAR_037039

Experimental info

Sequence conflict2491L → F in BAB71108. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: CEE9A444C0F8BC04

FASTA45449,269
        10         20         30         40         50         60 
MAEFSQKRGK RRSDEGLGSM VDFLLANARL VLGVGGAAVL GIATLAVKRF IDRATSPRDE 

        70         80         90        100        110        120 
DDTKADSWKE LSLLKATPHL QPRPPPAALS QPVLPLAPSS SAPEGPAETD PEVTPQLSSP 

       130        140        150        160        170        180 
APLCLTLQER LLAFERDRVT IPAAQVALAK QLAGDIALEL QAYFRSKFPE LPFGAFVPGG 

       190        200        210        220        230        240 
PLYDGLQAGA ADHVRLLVPL VLEPGLWSLV PGVDTVARDP RCWAVRRTQL EFCPRGSSPW 

       250        260        270        280        290        300 
DRFLVGGYLS SRVLLELLRK ALAASVNWPA IGSLLGCLIR PSMASEELLL EVQHERLELT 

       310        320        330        340        350        360 
VAVLVAVPGV DADDRLLLAW PLEGLAGNLW LQDLYPVEAA RLRALDDHDA GTRRRLLLLL 

       370        380        390        400        410        420 
CAVCRGCSAL GQLGRGHLTQ VVLRLGEDNV DWTEEALGER FLQALELLIG SLEQASLPCH 

       430        440        450 
FNPSVNLFSS LREEEIDDIG YALYSGLQEP EGLL 

« Hide

Isoform 2 [UniParc].

Checksum: AEBE5803EDD0C967
Show »

FASTA20520,559
Isoform 3 [UniParc].

Checksum: 249469573760B777
Show »

FASTA46550,482

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001138372.1. NM_001144900.1.
NP_631901.2. NM_139162.3.
NP_683684.2. NM_148886.1.
UniGeneHs.655555.

3D structure databases

ProteinModelPortalQ96C03.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125921. 6 interactions.
IntActQ96C03. 5 interactions.
MINTMINT-2878566.
STRING9606.ENSP00000379057.

PTM databases

PhosphoSiteQ96C03.

Polymorphism databases

DMDM74731298.

Proteomic databases

PaxDbQ96C03.
PRIDEQ96C03.

Protocols and materials databases

DNASU125170.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000323019; ENSP00000323591; ENSG00000177427. [Q96C03-1]
ENST00000395704; ENSP00000379056; ENSG00000177427. [Q96C03-2]
ENST00000395706; ENSP00000379057; ENSG00000177427. [Q96C03-3]
GeneID125170.
KEGGhsa:125170.
UCSCuc002gst.3. human. [Q96C03-1]
uc002gsu.3. human. [Q96C03-2]

Organism-specific databases

CTD125170.
GeneCardsGC17P018164.
HGNCHGNC:17920. MIEF2.
HPAHPA042334.
MIM615498. gene.
neXtProtNX_Q96C03.
PharmGKBPA38265.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG29631.
HOGENOMHOG000038002.
HOVERGENHBG054078.
InParanoidQ96C03.
OMAKFPELPF.
OrthoDBEOG7K9K2S.
PhylomeDBQ96C03.
TreeFamTF331032.

Gene expression databases

ArrayExpressQ96C03.
BgeeQ96C03.
CleanExHS_SMCR7.
GenevestigatorQ96C03.

Family and domain databases

InterProIPR024810. Mab-21_dom.
[Graphical view]
PfamPF03281. Mab-21. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi125170.
NextBio35535199.
PROQ96C03.
SOURCESearch...

Entry information

Entry nameMID49_HUMAN
AccessionPrimary (citable) accession number: Q96C03
Secondary accession number(s): J3KPT3, Q6ZRD4, Q96N07
Entry history
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: December 1, 2001
Last modified: April 16, 2014
This is version 85 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM