Format

Send to:

Choose Destination

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

Gene ID: 6391, updated on 11-Sep-2019

Summary

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
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

Genomic context

See SDHC in Genome Data Viewer
Location:
1q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (161314376..161375340)
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 tRNA-Val (anticodon CAC) 1-1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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 stroma 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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
electron transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme binding IBA
Inferred from Biological aspect of Ancestor
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 (ubiquinone) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
aerobic respiration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aerobic respiration TAS
Traceable Author Statement
more info
PubMed 
mitochondrial electron transport, succinate to ubiquinone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
respiratory chain complex II TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001035511.2NP_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, ENST00000342751.8
    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_001035512.2NP_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, ENST00000432287.6
    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_001035513.2NP_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, ENST00000392169.6
    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_001278172.2NP_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, ENST00000513009.5
    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, ENST00000367975.6
    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_103459.2 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 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    161314376..161375340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center