Version 5.4
Homo sapiens Protein: SDHAF1
Summary
InnateDB Protein IDBP-46102.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SDHAF1
Protein Name succinate dehydrogenase complex assembly factor 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000368165
InnateDB Gene IDBG-46100 (SDHAF1)
Protein Structure
UniProt Annotation
Function Plays an essential role in succinate dehydrogenase complex (SDH) assembly, a complex involved in complex II of the mitochondrial electron transport chain. Probably acts by participating in mitochondrial biosynthesis of iron-sulfur centers for complex II (Probable). {ECO:0000305PubMed:19465911}.
Subcellular Localization Mitochondrion matrix {ECO:0000305PubMed:19465911}.
Disease Associations Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitously expressed. {ECO:0000269PubMed:19465911}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0016226 iron-sulfur cluster assembly
GO:0034553 mitochondrial respiratory chain complex II assembly
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
Protein Structure and Domains
PDB ID
InterPro IPR008011 Complex 1 LYR protein
PFAM PF05347
PF13232
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt A6NFY7
PhosphoSite PhosphoSite-A6NFY7
TrEMBL
UniProt Splice Variant
Entrez Gene 644096
UniGene
RefSeq NP_001036096
HUGO HGNC:33867
OMIM 612848
CCDS CCDS32999
HPRD
IMGT
EMBL AF038458 BC137516 BC137517
GenPept AAI37517 AAI37518

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