InnateDB Protein
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IDBP-33825.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SMCR7
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Protein Name
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Smith-Magenis syndrome chromosome region, candidate 7
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000323591
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InnateDB Gene
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IDBG-33823 (SMCR7)
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Protein Structure
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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. {ECO:0000269PubMed:21508961, ECO:0000269PubMed:23283981, ECO:0000269PubMed:23530241, ECO:0000269PubMed:23921378}.
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Subcellular Localization |
Mitochondrion outer membrane {ECO:0000269PubMed:21508961}; Single-pass membrane protein {ECO:0000269PubMed:21508961}. Note=Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria.
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Disease Associations |
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Tissue Specificity |
Expressed in all tissues tested with highest expression in heart and skeletal muscle. {ECO:0000269PubMed:11997338}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
9
[view]
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Protein-Protein |
9
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0007005
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mitochondrion organization
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GO:0032464
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positive regulation of protein homooligomerization
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GO:0090141
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positive regulation of mitochondrial fission
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GO:0090314
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positive regulation of protein targeting to membrane
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96C03
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PhosphoSite |
PhosphoSite-Q96C03
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
125170
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UniGene |
Hs.655555
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RefSeq |
NP_631901
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HUGO |
HGNC:17920
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OMIM |
615498
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CCDS |
CCDS11193
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HPRD |
18074
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IMGT |
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EMBL |
AC127537
AF467443
AK056165
AK128310
BC014973
CH471196
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GenPept |
AAH14973
AAL78340
BAB71108
BAC87377
EAW55651
EAW55652
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