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Q99643

- C560_HUMAN

UniProt

Q99643 - C560_HUMAN

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
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    • History
      Entry version 151 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      Previous versions | rss
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    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

    Heme group. The heme is bound between the two transmembrane subunits SDHC and SDHD By similarity.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

    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

    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

    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

    ArrayExpressiQ99643.
    BgeeiQ99643.
    CleanExiHS_SDHC.
    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...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini30 – 6233Mitochondrial matrixBy similarityAdd
    BLAST
    Topological domaini93 – 11220Mitochondrial intermembraneBy similarityAdd
    BLAST
    Topological domaini138 – 1447Mitochondrial matrixBy similarity
    Topological domaini167 – 1693Mitochondrial intermembraneBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei63 – 9230HelicalBy similarityAdd
    BLAST
    Transmembranei113 – 13725HelicalBy similarityAdd
    BLAST
    Transmembranei145 – 16622HelicalBy similarityAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome b560 family.Curated

    Keywords - Domaini

    Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG2009.
    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

    MAALLLRHVG RHCLRAHFSP QLCIRNAVPL GTTAKEEMER FWNKNIGSNR    50
    PLSPHITIYS WSLPMAMSIC HRGTGIALSA GVSLFGMSAL LLPGNFESYL 100
    ELVKSLCLGP ALIHTAKFAL VFPLMYHTWN GIRHLMWDLG KGLKIPQLYQ 150
    SGVVVLVLTV LSSMGLAAM 169
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    ArrayExpressi Q99643.
    Bgeei Q99643.
    CleanExi HS_SDHC.
    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

    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: October 1, 2014
    This is version 151 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