Reviewed, UniProtKB/Swiss-Prot Q99643 (C560_HUMAN)

Names and origin

Protein names

Recommended name:
    Succinate dehydrogenase cytochrome b560 subunit, mitochondrial
Alternative name(s):
    Succinate dehydrogenase complex subunit C
    Integral membrane protein CII-3
    QPs-1
      Short name=QPs1
    Succinate-ubiquinone oxidoreductase cytochrome B large subunit
      Short name=CYBL

Gene names

Name:	SDHC
Synonyms:	CYB560, SDH3

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	169 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Mono-heme cytochrome b. May act as a mediator of low potential couples in an electron flow through cardiac complex II. Is involved in system II of the mitochondrial electron transport chain which is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).
Pathway	Carbohydrate metabolism; tricarboxylic acid cycle.
Subunit structure	Forms part of complex II containing four subunits: a 70 kDa flavoprotein (FP), a 27 kDa iron-sulfur protein (IP), and two other membrane-anchoring proteins, QPS1 (CII-3) and QPS2 (CII-4).
Subcellular location	Mitochondrion inner membrane; Multi-pass membrane protein.
Involvement in disease	Defects in SDHC are the cause of autosomal dominant non-chromaffin paragangliomas type 3 (PGL3) [MIM:605373]. Non-chromaffin paragangliomas are usually benign, neural crest derived tumors of parasympathetic ganglia. Ref.8 Defects in SDHC are a cause of paraganglioma and gastric stromal sarcoma [MIM:606864]; also known as Carney-Stratakis syndrome. Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance.
Sequence similarities	Belongs to the cytochrome b560 family.

Ontologies

Keywords
Biological process	Electron transport Transport Tricarboxylic acid cycle
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Domain	Transit peptide Transmembrane
Ligand	Heme Iron Metal-binding
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	electron transport chain Inferred from electronic annotation. Source: UniProtKB-KW transport Inferred from electronic annotation. Source: UniProtKB-KW tricarboxylic acid cycle Ref.2 Traceable author statement. Source: UniProtKB
Cellular component	integral to membrane Ref.2 Traceable author statement. Source: UniProtKB mitochondrial inner membrane Inferred from Experiment. Source: Reactome respiratory chain complex II Ref.2 Traceable author statement. Source: UniProtKB
Molecular function	electron carrier activity Inferred from electronic annotation. Source: InterPro iron ion binding Inferred from electronic annotation. Source: UniProtKB-KW succinate dehydrogenase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 29	29	Mitochondrion By similarity
	Chain	30 – 169	140	Succinate dehydrogenase cytochrome b560 subunit, mitochondrial		PRO_0000003634
Regions
	Transmembrane	71 – 93	23	Potential
	Transmembrane	105 – 127	23	Potential
	Transmembrane	147 – 168	22	Potential
Sites
	Metal binding	127	1	Iron (heme axial ligand) Probable

Sequences

	Sequence		Length	Mass (Da)
	Q99643-1 [UniParc]. Last modified May 1, 1997. Version 1. Checksum: DF7CBD6D0CD49500	FASTA	169	18,610
	10 20 30 40 50 60 MAALLLRHVG RHCLRAHFSP QLCIRNAVPL GTTAKEEMER FWNKNIGSNR PLSPHITIYS 70 80 90 100 110 120 WSLPMAMSIC HRGTGIALSA GVSLFGMSAL LLPGNFESYL ELVKSLCLGP ALIHTAKFAL 130 140 150 160 VFPLMYHTWN GIRHLMWDLG KGLKIPQLYQ SGVVVLVLTV LSSMGLAAM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The cDNA sequence of human CII-3, an integral membrane protein subunit of complex II of the mitochondria electron transport chain." Au H.C., Raval P.J., Scheffler I.E. Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23." Hirawake H., Taniwaki M., Tamura A., Kojima S., Kita K. Cytogenet. Cell Genet. 79:132-138(1997) [PubMed: 9533030] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver.
[3]	"Characterization of the human SDHC gene encoding one of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria." Elbehti-Green A., Au H.C., Mascarello J.T., Ream-Robinson D., Scheffler I.E. Gene 213:133-140(1998) [PubMed: 9714607] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain, Mammary gland and Skeletal muscle.
[7]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[8]	"Mutations in SDHC cause autosomal dominant paraganglioma, type 3." Niemann S., Mueller U. Nat. Genet. 26:268-270(2000) [PubMed: 11062460] [Abstract] Cited for: INVOLVEMENT IN PGL3.
[9]	"Familial gastrointestinal stromal tumors and germ-line mutations." McWhinney S.R., Pasini B., Stratakis C.A. N. Engl. J. Med. 357:1054-1056(2007) [PubMed: 17804857] [Abstract] Cited for: INVOLVEMENT IN PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Wikipedia

SDHC entry

Cross-references

Sequence databases

EMBLGenBankDDBJ

U57877 mRNA. Translation: AAB41838.1.
D49737 mRNA. Translation: BAA31998.1.
AF039594 , AF039589, AF039590, AF039591, AF039592, AF039593 Genomic DNA. Translation: AAC27993.1.
AL592295 Genomic DNA. Translation: CAH70271.1.
CH471121 Genomic DNA. Translation: EAW52600.1.
BC020808 mRNA. Translation: AAH20808.1.
BC033626 mRNA. Translation: AAH33626.1.
BC066329 mRNA. Translation: AAH66329.1.

IPI

IPI00016968.

RefSeq

NP_001030588.1.
NP_001030589.1.
NP_001030590.1.
NP_002992.1.

UniGene

Hs.444472
Hs.591486

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1ZP0	X-ray	3.50	C	30-169	[»]

SMR

Q99643. Positions 32-169.

ModBase

Search...

Protein-protein interaction databases

STRING

Q99643.

Proteomic databases

PRIDE

Q99643.

Genome annotation databases

Ensembl

ENST00000367975; ENSP00000356953; ENSG00000143252; Homo sapiens. [Genome view]

GeneID

6391.

KEGG

hsa:6391.

NMPDR

fig|9606.3.peg.2487.

UCSC

uc001gag.1. human.

Organism-specific databases

CTD

6391.

GeneCards

GC01P159550.

H-InvDB

HIX0001245.
HIX0039582.

HGNC

HGNC:10682. SDHC.

MIM

602413. gene.
605373. phenotype.
606864. phenotype.

Orphanet

97286. Carney-Stratakis syndrome.
29072. Hereditary pheochromocytoma-paraganglioma syndrome.

PharmGKB

PA35607.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

Q99643.

HOVERGEN

Q99643.

OMA

VMSICHR

Enzyme and pathway databases

BioCyc

MetaCyc:ENSG00000143252-MON.

Reactome

REACT_1046. Pyruvate metabolism and TCA cycle.
REACT_1505. Integration of energy metabolism.
REACT_15380. Diabetes pathways.

Gene expression databases

ArrayExpress

Q99643.

Bgee

Q99643.

CleanEx

HS_SDHC.

Genevestigator

Q99643.

GermOnline

ENSG00000143252. Homo sapiens.

Family and domain databases

InterPro

IPR000701. Succ_DH_cyt_bsu.
IPR018495. Succ_DH_cyt_bsu_CS.
IPR014314. Succ_DH_cytb556.
IPR014361. Succ_DH_cytb560.
[Graphical view]

Pfam

PF01127. Sdh_cyt. 1 hit.
[Graphical view]

PIRSF

PIRSF000178. SDH_cyt_b560. 1 hit.

TIGRFAMs

TIGR02970. succ_dehyd_cytB. 1 hit.

PROSITE

PS01000. SDH_CYT_1. 1 hit.
PS01001. SDH_CYT_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

DrugBank

DB00139. Succinic acid.

NextBio

24828.

SOURCE

Search...

Entry information

Entry name

C560_HUMAN

Accession

Primary (citable) accession number: Q99643
Secondary accession number(s): Q5VTH3

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	May 1, 1997
Last modified:	November 24, 2009
This is version 105 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.