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Q99643

- C560_HUMAN

UniProt

Q99643 - C560_HUMAN

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Protein

Succinate dehydrogenase cytochrome b560 subunit, mitochondrial

Gene

SDHC

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Pathwayi

Sites

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

GO - Molecular functioni

  1. electron carrier activity Source: InterPro
  2. heme binding Source: UniProtKB
  3. metal ion binding Source: UniProtKB-KW
  4. succinate dehydrogenase activity Source: InterPro

GO - Biological processi

  1. aerobic respiration Source: UniProtKB
  2. cellular metabolic process Source: Reactome
  3. oxidation-reduction process Source: UniProtKB
  4. respiratory electron transport chain Source: Reactome
  5. small molecule metabolic process Source: Reactome
  6. 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.
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: 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

  1. integral component of membrane Source: UniProtKB
  2. mitochondrial inner membrane Source: UniProtKB
  3. mitochondrial respiratory chain complex II Source: UniProtKB
  4. mitochondrion Source: UniProtKB
  5. 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) [MIM:605373]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Organism-specific databases

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

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.
GenevestigatoriQ99643.

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. 4 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.
OMAiLTLKGAY.
OrthoDBiEOG7SV0WV.
PhylomeDBiQ99643.
TreeFamiTF313317.

Family and domain databases

InterProiIPR018495. Succ_DH_cyt_bsu_CS.
IPR014314. Succ_DH_cytb556.
IPR014361. Succ_DH_cytb560.
IPR000701. Succ_DH_Fumarate_Rdtase_TM-su.
[Graphical view]
PfamiPF01127. Sdh_cyt. 1 hit.
[Graphical view]
PIRSFiPIRSF000178. SDH_cyt_b560. 1 hit.
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. Align

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]

Polymorphism databases

DMDMi5915811.

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 .
CCDSi CCDS1230.1. [Q99643-1 ]
CCDS41431.1. [Q99643-2 ]
CCDS41432.1. [Q99643-5 ]
CCDS44263.1. [Q99643-3 ]
CCDS60330.1. [Q99643-4 ]
RefSeqi NP_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 ]
UniGenei Hs.444472.

3D structure databases

ProteinModelPortali Q99643.
SMRi Q99643. Positions 32-169.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112292. 4 interactions.
IntActi Q99643. 4 interactions.
MINTi MINT-3059494.
STRINGi 9606.ENSP00000356953.

Chemistry

DrugBanki DB00139. Succinic acid.

PTM databases

PhosphoSitei Q99643.

Polymorphism databases

DMDMi 5915811.

Proteomic databases

MaxQBi Q99643.
PaxDbi Q99643.
PRIDEi Q99643.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000342751 ; ENSP00000356952 ; ENSG00000143252 . [Q99643-2 ]
ENST00000367975 ; ENSP00000356953 ; ENSG00000143252 . [Q99643-1 ]
ENST00000392169 ; ENSP00000376009 ; ENSG00000143252 . [Q99643-5 ]
ENST00000432287 ; ENSP00000390558 ; ENSG00000143252 . [Q99643-3 ]
ENST00000513009 ; ENSP00000423260 ; ENSG00000143252 . [Q99643-4 ]
GeneIDi 6391.
KEGGi hsa:6391.
UCSCi uc001gag.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

CTDi 6391.
GeneCardsi GC01P161285.
GeneReviewsi SDHC.
HGNCi HGNC:10682. SDHC.
MIMi 602413. gene.
605373. phenotype.
606864. phenotype.
neXtProti NX_Q99643.
Orphaneti 97286. Carney-Stratakis syndrome.
201. Cowden syndrome.
44890. Gastrointestinal stromal tumor.
29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKBi PA35607.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2009.
GeneTreei ENSGT00390000000566.
HOGENOMi HOG000160253.
HOVERGENi HBG003187.
InParanoidi Q99643.
KOi K00236.
OMAi LTLKGAY.
OrthoDBi EOG7SV0WV.
PhylomeDBi Q99643.
TreeFami TF313317.

Enzyme and pathway databases

UniPathwayi UPA00223 .
BioCyci MetaCyc:HS07014-MONOMER.
Reactomei REACT_1785. Citric acid cycle (TCA cycle).
REACT_22393. Respiratory electron transport.

Miscellaneous databases

GeneWikii Succinate_dehydrogenase_complex_subunit_C.
GenomeRNAii 6391.
NextBioi 24828.
PROi Q99643.
SOURCEi Search...

Gene expression databases

Bgeei Q99643.
CleanExi HS_SDHC.
ExpressionAtlasi Q99643. baseline and differential.
Genevestigatori Q99643.

Family and domain databases

InterProi IPR018495. Succ_DH_cyt_bsu_CS.
IPR014314. Succ_DH_cytb556.
IPR014361. Succ_DH_cytb560.
IPR000701. Succ_DH_Fumarate_Rdtase_TM-su.
[Graphical view ]
Pfami PF01127. Sdh_cyt. 1 hit.
[Graphical view ]
PIRSFi PIRSF000178. SDH_cyt_b560. 1 hit.
TIGRFAMsi TIGR02970. succ_dehyd_cytB. 1 hit.
PROSITEi PS01000. SDH_CYT_1. 1 hit.
PS01001. SDH_CYT_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: November 26, 2014
This is version 153 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