Version 5.4
Homo sapiens Protein: SMCR7L
Summary
InnateDB Protein IDBP-293405.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SMCR7L
Protein Name Smith-Magenis syndrome chromosome region, candidate 7-like
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000385191
InnateDB Gene IDBG-8371 (SMCR7L)
Protein Structure
UniProt Annotation
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}.
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}.
Disease Associations
Tissue Specificity Expression is relatively high in heart, skeletal muscle, pancreas and kidney. {ECO:0000269PubMed:21701560}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0019003 GDP binding
GO:0042802 identical protein binding
GO:0043531 ADP binding
Biological Process
GO:0000266 mitochondrial fission
GO:0090141 positive regulation of mitochondrial fission
GO:0090314 positive regulation of protein targeting to membrane
Cellular Component
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NQG6
PhosphoSite PhosphoSite-Q9NQG6
TrEMBL B0QY94
UniProt Splice Variant
Entrez Gene 54471
UniGene Hs.715159
RefSeq XP_005261709
HUGO HGNC:25979
OMIM 615497
CCDS CCDS13995
HPRD 13371
IMGT
EMBL AL022312 AL365515 BC002587 BC008327 CH471095
GenPept AAH02587 AAH08327 CAB97211 CAI19178 EAW60335 EAW60336 EAW60337

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca