Homo sapiens Gene: SDHD
Summary
InnateDB Gene IDBG-71313.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SDHD
Gene Name succinate dehydrogenase complex, subunit D, integral membrane protein
Synonyms CBT1; CII-4; CWS3; cybS; PGL; PGL1; QPs3; SDH4;
Species Homo sapiens
Ensembl Gene ENSG00000204370
Encoded Proteins
succinate dehydrogenase complex, subunit D, integral membrane protein
succinate dehydrogenase complex, subunit D, integral membrane protein
succinate dehydrogenase complex, subunit D, integral membrane protein
succinate dehydrogenase complex, subunit D, integral membrane protein
succinate dehydrogenase complex, subunit D, integral membrane protein
succinate dehydrogenase complex, subunit D, integral membrane protein
succinate dehydrogenase complex, subunit D, integral membrane protein
succinate dehydrogenase complex, subunit D, integral membrane protein
succinate dehydrogenase complex, subunit D, integral membrane protein
Protein Structure
Entrez Gene
Summary This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:112086773-112120013
Strand Forward strand
Band q23.1
Transcripts
ENST00000375549 ENSP00000364699
ENST00000528182 ENSP00000435475
ENST00000528048 ENSP00000436217
ENST00000528021 ENSP00000432465
ENST00000526592 ENSP00000432005
ENST00000525291 ENSP00000436669
ENST00000530923 ENSP00000432946
ENST00000534010 ENSP00000433202
ENST00000614349 ENSP00000480666
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000104 succinate dehydrogenase activity
GO:0009055 electron carrier activity
GO:0020037 heme binding
GO:0046872 metal ion binding
GO:0048039 ubiquinone binding
Biological Process
GO:0006099 tricarboxylic acid cycle
GO:0022904 respiratory electron transport chain
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005740 mitochondrial envelope
GO:0005743 mitochondrial inner membrane
GO:0005749 mitochondrial respiratory chain complex II
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway
Citric acid cycle (TCA cycle) pathway
The citric acid (TCA) cycle and respiratory electron transport pathway
Metabolism pathway
Respiratory electron transport pathway
KEGG
Citrate cycle (TCA cycle) pathway
Oxidative phosphorylation pathway
Alzheimer's disease pathway
Parkinson's disease pathway
Huntington's disease pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O14521
TrEMBL E9PK73 G3V173
UniProt Splice Variant
Entrez Gene 6392
UniGene Hs.703682 Hs.732662
RefSeq NM_001276503 NM_001276504 NM_001276506 NM_003002
HUGO HGNC:10683
OMIM 602690
CCDS CCDS31678 CCDS60958 CCDS60959 CCDS60960
HPRD 04069
IMGT
EMBL AB006202 AB026906 AK075360 AP002007 BC005263 BC009574 BC012603 BC015188 BC015992 BC022350 BC070307 BC071755 BC071756 BT007238 CH471065 CR456932
GenPept AAH05263 AAH09574 AAH12603 AAH15188 AAH15992 AAH22350 AAH70307 AAH71755 AAH71756 AAP35902 BAA22054 BAA81889 BAG52120 CAG33213 EAW67181 EAW67183
ImmGen SDHD (murine)
RNA Seq Atlas 6392