Version 5.4
Homo sapiens Protein: IBA57
Summary
InnateDB Protein IDBP-107214.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IBA57
Protein Name IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000355672
InnateDB Gene IDBG-107212 (IBA57)
Protein Structure
UniProt Annotation
Function Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. {ECO:0000269PubMed:23462291}.
Subcellular Localization Mitochondrion {ECO:0000269PubMed:22323289, ECO:0000269PubMed:23462291}.
Disease Associations Multiple mitochondrial dysfunctions syndrome 3 (MMDS3) [MIM:615330]: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. {ECO:0000269PubMed:23462291}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in skin fibroblasts and skeletal muscle (at protein level). {ECO:0000269PubMed:23462291}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004047 aminomethyltransferase activity
GO:0044822 poly(A) RNA binding
Biological Process
GO:0006546 glycine catabolic process
GO:0006783 heme biosynthetic process
GO:0032259 methylation
Cellular Component
GO:0005739 mitochondrion
Protein Structure and Domains
PDB ID
InterPro IPR006222 Glycine cleavage T-protein, N-terminal
IPR013977 Glycine cleavage T-protein, C-terminal barrel domain
IPR017703 YgfZ/GcvT conserved site
PFAM PF01571
PF08669
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q5T440
PhosphoSite PhosphoSite-Q5T440
TrEMBL G5EA38
UniProt Splice Variant
Entrez Gene 200205
UniGene Hs.237017
RefSeq NP_001010867
HUGO HGNC:27302
OMIM 615316
CCDS CCDS31046
HPRD 17318
IMGT
EMBL AL359510 CH471098
GenPept EAW69862

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