Homo sapiens Gene: SDHD

Summary
InnateDB Gene IDBG-71313.5
Last Modified 2012-02-14   [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
IDBP-71315 succinate dehydrogenase complex, subunit D, integral membrane protein
IDBP-593535 succinate dehydrogenase complex, subunit D, integral membrane protein
IDBP-590010 succinate dehydrogenase complex, subunit D, integral membrane protein
IDBP-585197 succinate dehydrogenase complex, subunit D, integral membrane protein
IDBP-590856 succinate dehydrogenase complex, subunit D, integral membrane protein
IDBP-585713 succinate dehydrogenase complex, subunit D, integral membrane protein
IDBP-601121 succinate dehydrogenase complex, subunit D, integral membrane protein
IDBP-592829 succinate dehydrogenase complex, subunit D, integral membrane protein
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: 111957497-111990353
Strand Forward strand
Band q23.1
Transcripts
ENST00000375549  ENSP00000364699
ENST00000528182  ENSP00000435475
ENST00000528048  ENSP00000436217
ENST00000528021  ENSP00000432465
ENST00000526592  ENSP00000432005
ENST00000525291  ENSP00000436669
ENST00000530923  ENSP00000432946
ENST00000534010  ENSP00000433202
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0000104 succinate dehydrogenase activity
GO:0005506 iron ion binding
GO:0009055 electron carrier activity
GO:0020037 heme binding
GO:0048039 ubiquinone binding
Biological Process
GO:0006099 tricarboxylic acid cycle
GO:0006121 mitochondrial electron transport, succinate to ubiquinone
GO:0022904 respiratory electron transport chain
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 to membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000000171 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000016266 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_1785 Citric acid cycle (TCA cycle)
REACT_22393 Respiratory electron transport
KEGG
hsa05010  Alzheimer`s disease
hsa00020  Citrate cycle (TCA cycle)
hsa05016  Huntington`s disease
hsa01100  Metabolic pathways
hsa00190  Oxidative phosphorylation
hsa05012  Parkinson`s disease
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O14521 
TrEMBL E9PIC0 E9PIG3 E9PK73 E9PQI9 G3V173
UniProt Splice Variant
Entrez Gene 6392 
UniGene Hs.703682 Hs.732662
RefSeq NM_003002 
HUGO 10683 
OMIM 602690
CCDS CCDS31678 
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