Version 5.4
Homo sapiens Protein: SFXN4
Summary
InnateDB Protein IDBP-91068.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SFXN4
Protein Name sideroflexin 4
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000347924
InnateDB Gene IDBG-91064 (SFXN4)
Protein Structure
UniProt Annotation
Function Potential iron transporter. {ECO:0000250}.
Subcellular Localization Mitochondrion inner membrane {ECO:0000269PubMed:24119684}; Multi-pass membrane protein {ECO:0000269PubMed:24119684}.
Disease Associations Combined oxidative phosphorylation deficiency 18 (COXPD18) [MIM:615578]: An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia. {ECO:0000269PubMed:24119684}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008324 cation transmembrane transporter activity
Biological Process
GO:0006812 cation transport
GO:0055072 iron ion homeostasis
GO:0055085 transmembrane transport
Cellular Component
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
Protein Structure and Domains
PDB ID
InterPro IPR004686 Tricarboxylate/iron carrier
PFAM PF03820
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6P4A7
PhosphoSite PhosphoSite-Q6P4A7
TrEMBL E9PGB5
UniProt Splice Variant
Entrez Gene 119559
UniGene
RefSeq NP_998814
HUGO HGNC:16088
OMIM 615564
CCDS CCDS7610
HPRD 18046
IMGT
EMBL AF336980 AL355598 AL355861 AY269785 BC063562
GenPept AAH63562 AAP23066 AAP97074 CAI14126 CAI15801

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