SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa [Homo sapiens] - Gene

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Summary

Official Symbol: SDHCprovided by HGNC
Official Full Name: succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDaprovided by HGNC
Primary source: HGNC:10682
See related: Ensembl:ENSG00000143252; HPRD:03878; 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. Several related pseudogenes are located in different genomic regions. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 1q23.3

Sequence :: Chromosome: 1; NC_000001.10 (161284166..161334541)

See SDHC in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Case Report: present a 32-year-old man with a familial SDHC mutation who manifests synchronous paragangliomas of the carotid body and the thoracic aortopulmonary window.
Title: Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.
mammalian cells over expressing mutations in SDHC demonstrate low-dose/low-LET radiation sensitization that is mediated by increased levels of O*- and HO.
Title: Sensitivity to low-dose/low-LET ionizing radiation in mammalian cells harboring mutations in succinate dehydrogenase subunit C is governed by mitochondria-derived reactive oxygen species.
Approximately 15% of all pheochromocytomas or paragangliomas are associated with germline SDH mutation.
Title: Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes.
Observational study of genetic testing. (HuGE Navigator)
Title: Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD.
no clear association was found between gene variants involved in oxygen sensing and chemoresponsiveness, although some mutations in the SDHB and SDHD genes deserve further investigations in a larger population.
Title: A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia?
Gene deletions of SDHD and SDHC represent a substantial proportion of all mutations, and must be considered in paraganglioma patients shown to be negative for mutations by sequencing.
Title: Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia?
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience.
investigated 11 patients with the dyad of 'paraganglioma and gastric stromal sarcoma'; in eight, from 7 unrelated families, the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively)
Title: Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

Submit: New GeneRIF Correction See all (18)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Gastrointestinal stromal tumor

MIM: 606764

Paraganglioma and gastric stromal sarcoma

MIM: 606864

Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:112292	BioGRID:106889	ARHGDIA	BioGRID	PubMed	Two-hybrid
BioGRID:112292	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112292	BioGRID:108822	XRCC6	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
electron carrier 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
oxidation-reduction process	TAS Traceable Author Statement more info	PubMed
respiratory electron transport chain	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info
transport	IEA Inferred from Electronic Annotation more info
tricarboxylic acid cycle	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
integral to membrane	TAS Traceable Author Statement more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
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
respiratory chain complex II	TAS Traceable Author Statement more info	PubMed
succinate dehydrogenase complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: succinate dehydrogenase cytochrome b560 subunit, mitochondrial

Names: succinate dehydrogenase cytochrome b560 subunit, mitochondrial; QPs-1; integral membrane protein CII-3; integral membrane protein CII-3b; cytochrome B large subunit of complex II; succinate dehydrogenase complex subunit C; succinate-ubiquinone oxidoreductase cytochrome B large subunit; succinate-ubiquinone oxidoreducatase cytochrome B large subunit

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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

NG_012767.1 RefSeqGene

Range

5001..55376

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AB211235, AL592295, BG724095, D49737

Consensus CDS

CCDS41431.1

UniProtKB/Swiss-Prot

Q99643

Related

ENSP00000356952, OTTHUMP00000217417, ENST00000342751, OTTHUMT00000359060

Conserved Domains (1) summary

cd03499
Location:50 – 79
Blast Score: 127

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 ...
NM_001035512.1 → NP_001030589.1 succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the coding region compared to variant 1 but maintains the reading frame. 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, OTTHUMP00000217418, ENST00000432287, OTTHUMT00000359062

Conserved Domains (1) summary

cd03499
Location:19 – 134
Blast Score: 213

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 ...
NM_001035513.1 → NP_001030590.1 succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 4 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two exons in the 5' coding region compared to variant 1 but maintains the reading frame. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AB201252, AL592295, BG724095, D49737

Consensus CDS

CCDS41432.1

UniProtKB/Swiss-Prot

Q99643

Related

ENSP00000376009, OTTHUMP00000217419, ENST00000392169, OTTHUMT00000359063

Conserved Domains (1) summary

cd03499
Location:8 – 99
Blast Score: 189

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 ...
NM_003001.3 → NP_002992.1 succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL592295, BC033626, BG724095

Consensus CDS

CCDS1230.1

UniProtKB/Swiss-Prot

Q99643

Related

ENSP00000356953, OTTHUMP00000032375, ENST00000367975, OTTHUMT00000083316

Conserved Domains (1) summary

cd03499
Location:50 – 168
Blast Score: 265

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 ...

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

161284166..161334541

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

132641002..132691319

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF039594.1	AAC27993.1
genomic	AL592295.25	CAH70271.1
genomic	CH471121.2	EAW52597.1
		EAW52598.1
		EAW52599.1
		EAW52600.1
		EAW52601.1
		EAW52602.1
		EAW52603.1
		EAW52604.1
mRNA	AB201252.1	BAE46977.1
mRNA	AB211234.1	BAE46978.1
mRNA	AB211235.1	BAE46979.1
mRNA	AB212048.1	BAE46980.1
mRNA	AK131051.1	None
mRNA	AK293687.1	BAG57126.1
mRNA	AK294305.1	BAG57586.1
mRNA	BC012735.2	None
mRNA	BC020808.1	AAH20808.1
mRNA	BC033626.1	AAH33626.1
mRNA	BC066329.1	AAH66329.1
mRNA	BG724095.1	None
mRNA	CR457102.1	CAG33383.1
mRNA	D49737.1	BAA31998.1
mRNA	U57877.1	AAB41838.1