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Protein

Succinate dehydrogenase cytochrome b560 subunit, mitochondrial

Gene

SDHC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).

Cofactori

hemeBy similarityNote: The heme is bound between the two transmembrane subunits SDHC and SDHD.By similarity

Pathway: tricarboxylic acid cycle

This protein is involved in the pathway tricarboxylic acid cycle, which is part of Carbohydrate metabolism.
View all proteins of this organism that are known to be involved in the pathway tricarboxylic acid cycle and in Carbohydrate metabolism.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi127 – 1271Iron (heme axial ligand); shared with SDHDBy similarity

GO - Molecular functioni

GO - Biological processi

  • aerobic respiration Source: UniProtKB
  • cellular metabolic process Source: Reactome
  • mitochondrial electron transport, succinate to ubiquinone Source: GO_Central
  • oxidation-reduction process Source: UniProtKB
  • respiratory electron transport chain Source: Reactome
  • small molecule metabolic process Source: Reactome
  • tricarboxylic acid cycle Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Electron transport, Transport, Tricarboxylic acid cycle

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS07014-MONOMER.
BRENDAi1.3.5.1. 2681.
ReactomeiREACT_1785. Citric acid cycle (TCA cycle).
REACT_22393. Respiratory electron transport.
UniPathwayiUPA00223.

Names & Taxonomyi

Protein namesi
Recommended name:
Succinate dehydrogenase cytochrome b560 subunit, mitochondrial
Alternative name(s):
Integral membrane protein CII-3
QPs-1
Short name:
QPs1
Succinate dehydrogenase complex subunit C
Succinate-ubiquinone oxidoreductase cytochrome B large subunit
Short name:
CYBL
Gene namesi
Name:SDHC
Synonyms:CYB560, SDH3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:10682. SDHC.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini30 – 6233Mitochondrial matrixBy similarityAdd
BLAST
Transmembranei63 – 9230HelicalBy similarityAdd
BLAST
Topological domaini93 – 11220Mitochondrial intermembraneBy similarityAdd
BLAST
Transmembranei113 – 13725HelicalBy similarityAdd
BLAST
Topological domaini138 – 1447Mitochondrial matrixBy similarity
Transmembranei145 – 16622HelicalBy similarityAdd
BLAST
Topological domaini167 – 1693Mitochondrial intermembraneBy similarity

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
  • mitochondrial inner membrane Source: UniProtKB
  • mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • respiratory chain complex II Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Paragangliomas 3 (PGL3)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear.

See also OMIM:605373
Paraganglioma and gastric stromal sarcoma (PGGSS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionGastrointestinal 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.

See also OMIM:606864

Organism-specific databases

MIMi605373. phenotype.
606864. phenotype.
Orphaneti97286. Carney-Stratakis syndrome.
201. Cowden syndrome.
44890. Gastrointestinal stromal tumor.
29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKBiPA35607.

Chemistry

DrugBankiDB00139. Succinic acid.

Polymorphism and mutation databases

BioMutaiSDHC.
DMDMi5915811.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2929MitochondrionBy similarityAdd
BLAST
Chaini30 – 169140Succinate dehydrogenase cytochrome b560 subunit, mitochondrialPRO_0000003634Add
BLAST

Proteomic databases

MaxQBiQ99643.
PaxDbiQ99643.
PRIDEiQ99643.

PTM databases

PhosphoSiteiQ99643.

Expressioni

Gene expression databases

BgeeiQ99643.
CleanExiHS_SDHC.
ExpressionAtlasiQ99643. baseline and differential.
GenevisibleiQ99643. HS.

Interactioni

Subunit structurei

Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD.

Protein-protein interaction databases

BioGridi112292. 5 interactions.
IntActiQ99643. 4 interactions.
MINTiMINT-3059494.
STRINGi9606.ENSP00000356953.

Structurei

3D structure databases

ProteinModelPortaliQ99643.
SMRiQ99643. Positions 32-169.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome b560 family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG2009.
GeneTreeiENSGT00390000000566.
HOGENOMiHOG000160253.
HOVERGENiHBG003187.
InParanoidiQ99643.
KOiK00236.
OMAiHSWNGLR.
OrthoDBiEOG7SV0WV.
PhylomeDBiQ99643.
TreeFamiTF313317.

Family and domain databases

InterProiIPR018495. Succ_DH_cyt_bsu_CS.
IPR014314. Succ_DH_cytb556.
IPR000701. Succ_DH_Fumarate_Rdtase_TM-su.
[Graphical view]
PfamiPF01127. Sdh_cyt. 1 hit.
[Graphical view]
TIGRFAMsiTIGR02970. succ_dehyd_cytB. 1 hit.
PROSITEiPS01000. SDH_CYT_1. 1 hit.
PS01001. SDH_CYT_2. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q99643-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAALLLRHVG RHCLRAHFSP QLCIRNAVPL GTTAKEEMER FWNKNIGSNR
60 70 80 90 100
PLSPHITIYS WSLPMAMSIC HRGTGIALSA GVSLFGMSAL LLPGNFESYL
110 120 130 140 150
ELVKSLCLGP ALIHTAKFAL VFPLMYHTWN GIRHLMWDLG KGLKIPQLYQ
160
SGVVVLVLTV LSSMGLAAM
Length:169
Mass (Da):18,610
Last modified:May 1, 1997 - v1
Checksum:iDF7CBD6D0CD49500
GO
Isoform 2 (identifier: Q99643-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     81-169: GVSLFGMSAL...VLSSMGLAAM → DVGPRKRPED...PAWEKFSLFV

Show »
Length:150
Mass (Da):16,650
Checksum:i971579A96F795D90
GO
Isoform 3 (identifier: Q99643-3) [UniParc]FASTAAdd to basket

Also known as: CII-3b

The sequence of this isoform differs from the canonical sequence as follows:
     27-60: Missing.

Show »
Length:135
Mass (Da):14,770
Checksum:i5F7A8BC812112D75
GO
Isoform 4 (identifier: Q99643-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     27-60: Missing.
     81-169: GVSLFGMSAL...VLSSMGLAAM → DVGPRKRPED...PAWEKFSLFV

Show »
Length:116
Mass (Da):12,810
Checksum:i36DFFD8CC2E6D4E8
GO
Isoform 5 (identifier: Q99643-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     7-59: Missing.

Show »
Length:116
Mass (Da):12,474
Checksum:iAC702AE33DD1F118
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei7 – 5953Missing in isoform 5. 1 PublicationVSP_041381Add
BLAST
Alternative sequencei27 – 6034Missing in isoform 3 and isoform 4. 2 PublicationsVSP_041382Add
BLAST
Alternative sequencei81 – 16989GVSLF…GLAAM → DVGPRKRPEDSPAIPVWSGC PGSYCVVLYGAGSHVKKGGS QHHLPTHYYIHPSFCLSFLS PAWEKFSLFV in isoform 2 and isoform 4. 2 PublicationsVSP_041383Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U57877 mRNA. Translation: AAB41838.1.
D49737 mRNA. Translation: BAA31998.1.
AF039594
, AF039589, AF039590, AF039591, AF039592, AF039593 Genomic DNA. Translation: AAC27993.1.
AF081495 Genomic DNA. Translation: AAC31940.1.
AB201252 mRNA. Translation: BAE46977.1.
AB211234 mRNA. Translation: BAE46978.1.
AB211235 mRNA. Translation: BAE46979.1.
AB212048 mRNA. Translation: BAE46980.1.
AK294305 mRNA. Translation: BAG57586.1.
AL592295 Genomic DNA. Translation: CAH70271.1.
CH471121 Genomic DNA. Translation: EAW52600.1.
CH471121 Genomic DNA. Translation: EAW52604.1.
BC020808 mRNA. Translation: AAH20808.1.
BC033626 mRNA. Translation: AAH33626.1.
BC066329 mRNA. Translation: AAH66329.1.
CCDSiCCDS1230.1. [Q99643-1]
CCDS41431.1. [Q99643-2]
CCDS41432.1. [Q99643-5]
CCDS44263.1. [Q99643-3]
CCDS60330.1. [Q99643-4]
RefSeqiNP_001030588.1. NM_001035511.1. [Q99643-2]
NP_001030589.1. NM_001035512.1. [Q99643-3]
NP_001030590.1. NM_001035513.1. [Q99643-5]
NP_001265101.1. NM_001278172.1. [Q99643-4]
NP_002992.1. NM_003001.3. [Q99643-1]
UniGeneiHs.444472.

Genome annotation databases

EnsembliENST00000342751; ENSP00000356952; ENSG00000143252. [Q99643-2]
ENST00000367975; ENSP00000356953; ENSG00000143252. [Q99643-1]
ENST00000392169; ENSP00000376009; ENSG00000143252. [Q99643-5]
ENST00000432287; ENSP00000390558; ENSG00000143252. [Q99643-3]
ENST00000513009; ENSP00000423260; ENSG00000143252. [Q99643-4]
GeneIDi6391.
KEGGihsa:6391.
UCSCiuc001gag.3. human. [Q99643-1]
uc001gah.3. human. [Q99643-3]
uc001gai.3. human. [Q99643-2]
uc001gaj.3. human. [Q99643-5]
uc001gak.3. human. [Q99643-4]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Wikipedia

SDHC entry

TCA Cycle Gene Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U57877 mRNA. Translation: AAB41838.1.
D49737 mRNA. Translation: BAA31998.1.
AF039594
, AF039589, AF039590, AF039591, AF039592, AF039593 Genomic DNA. Translation: AAC27993.1.
AF081495 Genomic DNA. Translation: AAC31940.1.
AB201252 mRNA. Translation: BAE46977.1.
AB211234 mRNA. Translation: BAE46978.1.
AB211235 mRNA. Translation: BAE46979.1.
AB212048 mRNA. Translation: BAE46980.1.
AK294305 mRNA. Translation: BAG57586.1.
AL592295 Genomic DNA. Translation: CAH70271.1.
CH471121 Genomic DNA. Translation: EAW52600.1.
CH471121 Genomic DNA. Translation: EAW52604.1.
BC020808 mRNA. Translation: AAH20808.1.
BC033626 mRNA. Translation: AAH33626.1.
BC066329 mRNA. Translation: AAH66329.1.
CCDSiCCDS1230.1. [Q99643-1]
CCDS41431.1. [Q99643-2]
CCDS41432.1. [Q99643-5]
CCDS44263.1. [Q99643-3]
CCDS60330.1. [Q99643-4]
RefSeqiNP_001030588.1. NM_001035511.1. [Q99643-2]
NP_001030589.1. NM_001035512.1. [Q99643-3]
NP_001030590.1. NM_001035513.1. [Q99643-5]
NP_001265101.1. NM_001278172.1. [Q99643-4]
NP_002992.1. NM_003001.3. [Q99643-1]
UniGeneiHs.444472.

3D structure databases

ProteinModelPortaliQ99643.
SMRiQ99643. Positions 32-169.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112292. 5 interactions.
IntActiQ99643. 4 interactions.
MINTiMINT-3059494.
STRINGi9606.ENSP00000356953.

Chemistry

DrugBankiDB00139. Succinic acid.

PTM databases

PhosphoSiteiQ99643.

Polymorphism and mutation databases

BioMutaiSDHC.
DMDMi5915811.

Proteomic databases

MaxQBiQ99643.
PaxDbiQ99643.
PRIDEiQ99643.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342751; ENSP00000356952; ENSG00000143252. [Q99643-2]
ENST00000367975; ENSP00000356953; ENSG00000143252. [Q99643-1]
ENST00000392169; ENSP00000376009; ENSG00000143252. [Q99643-5]
ENST00000432287; ENSP00000390558; ENSG00000143252. [Q99643-3]
ENST00000513009; ENSP00000423260; ENSG00000143252. [Q99643-4]
GeneIDi6391.
KEGGihsa:6391.
UCSCiuc001gag.3. human. [Q99643-1]
uc001gah.3. human. [Q99643-3]
uc001gai.3. human. [Q99643-2]
uc001gaj.3. human. [Q99643-5]
uc001gak.3. human. [Q99643-4]

Organism-specific databases

CTDi6391.
GeneCardsiGC01P161285.
GeneReviewsiSDHC.
HGNCiHGNC:10682. SDHC.
MIMi602413. gene.
605373. phenotype.
606864. phenotype.
neXtProtiNX_Q99643.
Orphaneti97286. Carney-Stratakis syndrome.
201. Cowden syndrome.
44890. Gastrointestinal stromal tumor.
29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKBiPA35607.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG2009.
GeneTreeiENSGT00390000000566.
HOGENOMiHOG000160253.
HOVERGENiHBG003187.
InParanoidiQ99643.
KOiK00236.
OMAiHSWNGLR.
OrthoDBiEOG7SV0WV.
PhylomeDBiQ99643.
TreeFamiTF313317.

Enzyme and pathway databases

UniPathwayiUPA00223.
BioCyciMetaCyc:HS07014-MONOMER.
BRENDAi1.3.5.1. 2681.
ReactomeiREACT_1785. Citric acid cycle (TCA cycle).
REACT_22393. Respiratory electron transport.

Miscellaneous databases

GeneWikiiSuccinate_dehydrogenase_complex_subunit_C.
GenomeRNAii6391.
NextBioi24828.
PROiQ99643.
SOURCEiSearch...

Gene expression databases

BgeeiQ99643.
CleanExiHS_SDHC.
ExpressionAtlasiQ99643. baseline and differential.
GenevisibleiQ99643. HS.

Family and domain databases

InterProiIPR018495. Succ_DH_cyt_bsu_CS.
IPR014314. Succ_DH_cytb556.
IPR000701. Succ_DH_Fumarate_Rdtase_TM-su.
[Graphical view]
PfamiPF01127. Sdh_cyt. 1 hit.
[Graphical view]
TIGRFAMsiTIGR02970. succ_dehyd_cytB. 1 hit.
PROSITEiPS01000. SDH_CYT_1. 1 hit.
PS01001. SDH_CYT_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] (ISOFORM 1).
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "A human succinate-ubiquinone oxidoreductase CII-3 subunit gene ending in a polymorphic dinucleotide repeat is located within the sulfonylurea receptor (SUR) gene."
    Wohllk N., Thomas P.M., Huang E., Cote G.J.
    Mol. Genet. Metab. 65:187-190(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    Tissue: Peripheral blood.
  5. "Homo sapiens succinate dehydrogenase complex, subunit C mRNA, alternative splicing variants."
    Hiatomi H., Kitano S., Kawano K., Hibi N.
    Submitted (OCT-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4 AND 5).
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Amygdala.
  7. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain, Mammary gland and Skeletal muscle.
  10. "Mutations in SDHC cause autosomal dominant paraganglioma, type 3."
    Niemann S., Mueller U.
    Nat. Genet. 26:268-270(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PGL3.
  11. "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] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PGGSS.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiC560_HUMAN
AccessioniPrimary (citable) accession number: Q99643
Secondary accession number(s): O75609
, Q3C259, Q3C2D8, Q3C2H4, Q5VTH3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 1, 1997
Last modified: June 24, 2015
This is version 158 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.