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    SDHC succinate dehydrogenase complex subunit C [ Homo sapiens (human) ]

    Gene ID: 6391, updated on 5-Nov-2017
    Official Symbol
    SDHCprovided by HGNC
    Official Full Name
    succinate dehydrogenase complex subunit Cprovided by HGNC
    Primary source
    HGNC:HGNC:10682
    See related
    Ensembl:ENSG00000143252 MIM:602413; Vega:OTTHUMG00000034468
    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
    CYBL; PGL3; QPS1; SDH3; CYB560
    Summary
    This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in kidney (RPKM 80.5), liver (RPKM 66.7) and 25 other tissues See more
    Orthologs
    Location:
    1q23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (161314376..161364751)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161284166..161334541)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985221 Neighboring gene myelin protein zero Neighboring gene cilia and flagella associated protein 126 Neighboring gene ribonucleotide reductase M2 polypeptide pseudogene 2 Neighboring gene transfer RNA-Val (CAC) 1-1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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 SDHC that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Gastrointestinal stromal tumor
    MedGen: C0238198 OMIM: 606764 GeneReviews: Not available
    Compare labs
    Paraganglioma and gastric stromal sarcoma
    MedGen: C1847319 OMIM: 606864 GeneReviews: Not available
    Compare labs
    Paragangliomas 3 Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2015-08-27)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2015-08-27)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    electron transfer activity IEA
    Inferred from Electronic Annotation
    more info
     
    heme binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    succinate dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    aerobic respiration TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrial electron transport, succinate to ubiquinone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    oxidation-reduction process TAS
    Traceable Author Statement
    more info
    PubMed 
    tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    tricarboxylic acid cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane TAS
    Traceable Author Statement
    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, succinate dehydrogenase complex (ubiquinone) IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    respiratory chain complex II TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    succinate dehydrogenase cytochrome b560 subunit, mitochondrial
    Names
    cytochrome B large subunit of complex II
    integral membrane protein CII-3b
    large subunit of cytochrome b
    succinate dehydrgenase cytochrome b
    succinate dehydrogenase 3, integral membrane subunit
    succinate dehydrogenase complex subunit C integral membrane protein 15kDa
    succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD
    succinate-ubiquinone oxidoreductase cytochrome B large 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_012767.1 RefSeqGene

      Range
      5001..55376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_317

    mRNA and Protein(s)

    1. NM_001035511.1NP_001030588.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001030588.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as delta5) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB211235, AL592295, BG724095, D49737
      Consensus CDS
      CCDS41431.1
      UniProtKB/Swiss-Prot
      Q99643
      Related
      ENSP00000356952.3, OTTHUMP00000217417, ENST00000342751.8, OTTHUMT00000359060
      Conserved Domains (1) summary
      cl00881
      Location:5079
      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, ...
    2. NM_001035512.1NP_001030589.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 3 precursor

      See identical proteins and their annotated locations for NP_001030589.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as delta3) lacks an alternate exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AB211234, AL592295, BG724095, D49737
      Consensus CDS
      CCDS44263.1
      UniProtKB/Swiss-Prot
      Q99643
      Related
      ENSP00000390558.2, OTTHUMP00000217418, ENST00000432287.6, OTTHUMT00000359062
      Conserved Domains (1) summary
      cd03499
      Location:19118
      SQR_TypeC_SdhC; Succinate:quinone oxidoreductase (SQR) Type C subfamily, Succinate dehydrogenase C (SdhC) subunit; composed of bacterial SdhC and eukaryotic large cytochrome b binding (CybL) proteins. SQR catalyzes the oxidation of succinate to fumarate coupled to the ...
    3. NM_001035513.1NP_001030590.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 4 precursor

      See identical proteins and their annotated locations for NP_001030590.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as delta2+3) lacks two alternate exons in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AB201252, AL592295, BG724095, D49737
      Consensus CDS
      CCDS41432.1
      UniProtKB/Swiss-Prot
      Q99643
      UniProtKB/TrEMBL
      A0A0S2Z4C9
      Related
      ENSP00000376009.2, OTTHUMP00000217419, ENST00000392169.6, OTTHUMT00000359063
      Conserved Domains (1) summary
      cd03499
      Location:8115
      SQR_TypeC_SdhC; Succinate:quinone oxidoreductase (SQR) Type C subfamily, Succinate dehydrogenase C (SdhC) subunit; composed of bacterial SdhC and eukaryotic large cytochrome b binding (CybL) proteins. SQR catalyzes the oxidation of succinate to fumarate coupled to the ...
    4. NM_001278172.1NP_001265101.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 5 precursor

      See identical proteins and their annotated locations for NP_001265101.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as delta 3+5), lacks two alternate exons, which results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB212048, AL592295, BG724095
      Consensus CDS
      CCDS60330.1
      UniProtKB/Swiss-Prot
      Q99643
      Related
      ENSP00000423260.1, OTTHUMP00000217420, ENST00000513009.5, OTTHUMT00000359064
      Conserved Domains (1) summary
      cl00881
      Location:1945
      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, ...
    5. NM_003001.3NP_002992.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_002992.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL592295, BC033626, BG724095
      Consensus CDS
      CCDS1230.1
      UniProtKB/Swiss-Prot
      Q99643
      UniProtKB/TrEMBL
      A0A0S2Z4B7
      Related
      ENSP00000356953.2, OTTHUMP00000032375, ENST00000367975.6, OTTHUMT00000083316
      Conserved Domains (1) summary
      cd03499
      Location:50152
      SQR_TypeC_SdhC; Succinate:quinone oxidoreductase (SQR) Type C subfamily, Succinate dehydrogenase C (SdhC) subunit; composed of bacterial SdhC and eukaryotic large cytochrome b binding (CybL) proteins. SQR catalyzes the oxidation of succinate to fumarate coupled to the ...

    RNA

    1. NR_103459.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL592295, BG724095, DA751501

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      161314376..161364751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      162680387..162730796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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