Q96C03 (MID49_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mitochondrial dynamic protein MID49

Alternative name(s):
Mitochondrial dynamic protein of 49 kDa
Smith-Magenis syndrome chromosomal region candidate gene 7 protein

Gene names

Name:	SMCR7
Synonyms:	MID49

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	454 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Mitochondrial outer membrane protein which regulates mitochondrial morphology. Mitochondrial morphology is controlled by two opposites processes: fusion and fission. Can directly recruit the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. Ref.6
Subunit structure	Interacts with DNM1L. Ref.6
Subcellular location	Mitochondrion outer membrane; Single-pass membrane protein. Note: Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria. Ref.6
Tissue specificity	Expressed in all tissues tested with highest expression in heart and skeletal muscle. Ref.1
Sequence similarities	Belongs to the MID49/MID51 family.

Ontologies

Keywords
Cellular component	Membrane Mitochondrion Mitochondrion outer membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mitochondrion organization Inferred from direct assay Ref.6. Source: UniProtKB
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial outer membrane Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
RABAC1	Q9UI14	3	EBI-750153,EBI-712367

Alternative products

This entry describes 2 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 454	454	Mitochondrial dynamic protein MID49		PRO_0000310445
Regions
	Topological domain	1 – 22	22	Mitochondrial intermembrane Potential
	Transmembrane	23 – 43	21	Helical; Potential
	Topological domain	44 – 454	411	Cytoplasmic Potential
Amino acid modifications
	Modified residue	13	1	Phosphoserine Ref.5
Natural variations
	Alternative sequence	104 – 205	102	EGPAE…VLEPG → GEAAGLRAGPCDHPSSPGGF GQTAGWRHRPGAAGLLSEQV PGTALWGIRAWGAALRRAAG GGCGPCASPGATGAGAGPVE PGAGRGHCGEGPSLLGRAQD AA in isoform 2.		VSP_029358
	Alternative sequence	206 – 454	249	Missing in isoform 2.		VSP_029359
	Natural variant	324	1	G → E. Corresponds to variant rs12603700 [ dbSNP | Ensembl ].		VAR_037038
	Natural variant	354	1	R → Q. Corresponds to variant rs3751981 [ dbSNP | Ensembl ].		VAR_037039
Experimental info
	Sequence conflict	249	1	L → F in BAB71108. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: CEE9A444C0F8BC04	FASTA	454	49,269
	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
	Isoform 2 [UniParc]. Checksum: AEBE5803EDD0C967	FASTA	205	20,559
	10 20 30 40 50 60 MAEFSQKRGK RRSDEGLGSM VDFLLANARL VLGVGGAAVL GIATLAVKRF IDRATSPRDE 70 80 90 100 110 120 DDTKADSWKE LSLLKATPHL QPRPPPAALS QPVLPLAPSS SAPGEAAGLR AGPCDHPSSP 130 140 150 160 170 180 GGFGQTAGWR HRPGAAGLLS EQVPGTALWG IRAWGAALRR AAGGGCGPCA SPGATGAGAG 190 200 PVEPGAGRGH CGEGPSLLGR AQDAA

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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].
[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: Skin.
[5]	"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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"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.
+	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. CH471196 Genomic DNA. Translation: EAW55651.1. CH471196 Genomic DNA. Translation: EAW55652.1. BC014973 mRNA. Translation: AAH14973.1.
IPI	IPI00060146. IPI00443814.
RefSeq	NP_001138372.1. NM_001144900.1. NP_631901.2. NM_139162.3. NP_683684.2. NM_148886.1.
UniGene	Hs.655555.
3D structure databases
ProteinModelPortal	Q96C03.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96C03. 3 interactions.
MINT	MINT-2878566.
STRING	9606.ENSP00000379057.
PTM databases
PhosphoSite	Q96C03.
Polymorphism databases
DMDM	74731298.
Proteomic databases
PaxDb	Q96C03.
PRIDE	Q96C03.
Protocols and materials databases
DNASU	125170.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000323019; ENSP00000323591; ENSG00000177427. ENST00000395704; ENSP00000379056; ENSG00000177427.
GeneID	125170.
KEGG	hsa:125170.
UCSC	uc002gst.3. human. uc002gsu.3. human.
Organism-specific databases
CTD	125170.
GeneCards	GC17P018163.
HGNC	HGNC:17920. SMCR7.
HPA	HPA042334.
neXtProt	NX_Q96C03.
PharmGKB	PA38265.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG29631.
HOGENOM	HOG000038002.
HOVERGEN	HBG054078.
InParanoid	Q96C03.
OrthoDB	EOG4ZW5BK.
PhylomeDB	Q96C03.
Gene expression databases
ArrayExpress	Q96C03.
Bgee	Q96C03.
CleanEx	HS_SMCR7.
Genevestigator	Q96C03.
Family and domain databases
InterPro	IPR024810. Mab-21_dom. [Graphical view]
Pfam	PF03281. Mab-21. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	125170.
NextBio	81506.

Entry information

Entry name

MID49_HUMAN

Accession

Primary (citable) accession number: Q96C03
Secondary accession number(s): Q6ZRD4, Q96N07

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 13, 2007
Last sequence update:	December 1, 2001
Last modified:	April 3, 2013
This is version 76 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.