InnateDB Protein
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IDBP-8373.7
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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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SMCR7L
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Protein Name
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Smith-Magenis syndrome chromosome region, candidate 7-like
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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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ENSP00000327124
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InnateDB Gene
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IDBG-8371 (SMCR7L)
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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 and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assembly of DNM1L into long, oligomeric tubules with a spiral pattern, as opposed to the ring-like DNM1L oligomers observed in the absence of bound ADP. Does not require ADP for its function in recruiting DNM1L. {ECO:0000269PubMed:21508961, ECO:0000269PubMed:21701560, ECO:0000269PubMed:23283981, ECO:0000269PubMed:23530241, ECO:0000269PubMed:23921378, ECO:0000269PubMed:24515348}.
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Subcellular Localization |
Mitochondrion outer membrane {ECO:0000269PubMed:21508961, ECO:0000269PubMed:21701560, ECO:0000269PubMed:24515348}; Single-pass membrane protein {ECO:0000269PubMed:21508961, ECO:0000269PubMed:21701560, ECO:0000269PubMed:24515348}.
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Disease Associations |
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Tissue Specificity |
Expression is relatively high in heart, skeletal muscle, pancreas and kidney. {ECO:0000269PubMed:21701560}.
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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 11 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
11
[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:0000266
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mitochondrial fission
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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 |
Q9NQG6
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PhosphoSite |
PhosphoSite-Q9NQG6
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TrEMBL |
B0QY94
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UniProt Splice Variant |
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Entrez Gene |
54471
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UniGene |
Hs.715159
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RefSeq |
NP_061881
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HUGO |
HGNC:25979
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OMIM |
615497
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CCDS |
CCDS13995
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HPRD |
13371
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IMGT |
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EMBL |
AL022312
AL365515
BC002587
BC008327
CH471095
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GenPept |
AAH02587
AAH08327
CAB97211
CAI19178
EAW60335
EAW60336
EAW60337
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