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SDHD succinate dehydrogenase complex, subunit D, integral membrane protein [ Homo sapiens (human) ]

Gene ID: 6392, updated on 26-Aug-2014
Official Symbol
SDHDprovided by HGNC
Official Full Name
succinate dehydrogenase complex, subunit D, integral membrane proteinprovided by HGNC
Primary source
HGNC:10683
See related
Ensembl:ENSG00000204370; HPRD:04069; MIM:602690; Vega:OTTHUMG00000166997
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PGL; CBT1; CWS3; PGL1; QPs3; SDH4; cybS; CII-4
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]
See SDHD in Epigenomics, MapViewer
Location:
11q23
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (112086824..112095801)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111957548..111966525)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene dihydrolipoamide S-acetyltransferase Neighboring gene PIH1 domain containing 2 Neighboring gene chromosome 11 open reading frame 57 Neighboring gene translocase of inner mitochondrial membrane 8 homolog B (yeast) Neighboring gene interleukin 18 Neighboring gene testis expressed 12

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in SDHD that are pathogenic or expected to be pathogenic.

GuidelinePubMed
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
electron carrier activity TAS
Traceable Author Statement
more info
PubMed 
heme binding ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
succinate dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquinone binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cellular metabolic process TAS
Traceable Author Statement
more info
 
respiratory electron transport chain TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
tricarboxylic acid cycle IDA
Inferred from Direct Assay
more info
PubMed 
tricarboxylic acid cycle IEA
Inferred from Electronic Annotation
more info
 
tricarboxylic acid cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial envelope TAS
Traceable Author Statement
more info
PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex II ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Names
succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
succinate-ubiquinone reductase membrane anchor subunit
succinate-ubiquinone oxidoreductase cytochrome b small subunit

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012337.2 

    Range
    4978..13955
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276503.1NP_001263432.1  succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon, which results in a frameshift, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AI753083, AP002007, BC015188, BQ932668, CD105572
    Consensus CDS
    CCDS60959.1
    UniProtKB/Swiss-Prot
    O14521
  2. NM_001276504.1NP_001263433.1  succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate coding exon, but retains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AI753083, AP002007, BC015188, BF211358, BQ932668
    Consensus CDS
    CCDS60960.1
    UniProtKB/Swiss-Prot
    O14521
    Conserved Domains (1) summary
    cd03496
    Location:21119
    Blast Score: 288
    SQR_TypeC_CybS; SQR catalyzes the oxidation of succinate to fumarate coupled to the reduction of quinone to quinol. Eukaryotic SQRs reduce high potential quinones such as ubiquinone. SQR is also called succinate dehydrogenase or Complex II, and is part of the citric ...
  3. NM_001276506.1NP_001263435.1  succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate coding exon, which results in a frameshift, compared to variant 1. The encoded isoform (d) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AI753083, AP002007, BC015188, BG492859, BQ932668
    Consensus CDS
    CCDS60958.1
    UniProtKB/Swiss-Prot
    O14521
    Conserved Domains (1) summary
    cl00881
    Location:60105
    Blast Score: 117
    SQR_QFR_TM; Succinate:quinone oxidoreductase (SQR) and Quinol:fumarate reductase (QFR) family, transmembrane subunits; SQR catalyzes the oxidation of succinate to fumarate coupled to the reduction of quinone to quinol, while QFR catalyzes the reverse reaction. SQR, ...
  4. NM_003002.3NP_002993.1  succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform a precursor

    See proteins identical to NP_002993.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AI753083, AP002007, BC015188, BQ932668
    Consensus CDS
    CCDS31678.1
    UniProtKB/Swiss-Prot
    O14521
    Related
    ENSP00000364699, OTTHUMP00000234720, ENST00000375549, OTTHUMT00000392351
    Conserved Domains (1) summary
    cd03496
    Location:60158
    Blast Score: 295
    SQR_TypeC_CybS; SQR catalyzes the oxidation of succinate to fumarate coupled to the reduction of quinone to quinol. Eukaryotic SQRs reduce high potential quinones such as ubiquinone. SQR is also called succinate dehydrogenase or Complex II, and is part of the citric ...

RNA

  1. NR_077060.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI753083, AP002007, BC015188, BE567994, BQ932668

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    112086824..112095801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    107881580..107890557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    111840726..111849704
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)