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P21912

- SDHB_HUMAN

UniProt

P21912 - SDHB_HUMAN

Protein

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial

Gene

SDHB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 171 (01 Oct 2014)
      Sequence version 3 (02 May 2002)
      Previous versions | rss
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    Functioni

    Iron-sulfur protein (IP) 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).

    Catalytic activityi

    Succinate + a quinone = fumarate + a quinol.

    Cofactori

    Binds 1 2Fe-2S cluster.By similarity
    Binds 1 3Fe-4S cluster.By similarity
    Binds 1 4Fe-4S cluster.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi93 – 931Iron-sulfur 1 (2Fe-2S)By similarity
    Metal bindingi98 – 981Iron-sulfur 1 (2Fe-2S)By similarity
    Metal bindingi101 – 1011Iron-sulfur 1 (2Fe-2S)By similarity
    Metal bindingi113 – 1131Iron-sulfur 1 (2Fe-2S)By similarity
    Metal bindingi186 – 1861Iron-sulfur 2 (4Fe-4S)By similarity
    Metal bindingi189 – 1891Iron-sulfur 2 (4Fe-4S)By similarity
    Metal bindingi192 – 1921Iron-sulfur 2 (4Fe-4S)By similarity
    Metal bindingi196 – 1961Iron-sulfur 3 (3Fe-4S)By similarity
    Binding sitei201 – 2011Ubiquinone; shared with DHSDBy similarity
    Metal bindingi243 – 2431Iron-sulfur 3 (3Fe-4S)By similarity
    Metal bindingi249 – 2491Iron-sulfur 3 (3Fe-4S)By similarity
    Metal bindingi253 – 2531Iron-sulfur 2 (4Fe-4S)By similarity

    GO - Molecular functioni

    1. 2 iron, 2 sulfur cluster binding Source: UniProtKB
    2. 3 iron, 4 sulfur cluster binding Source: UniProtKB
    3. 4 iron, 4 sulfur cluster binding Source: UniProtKB
    4. electron carrier activity Source: InterPro
    5. metal ion binding Source: UniProtKB-KW
    6. protein binding Source: UniProtKB
    7. succinate dehydrogenase (ubiquinone) activity Source: UniProtKB-EC
    8. ubiquinone binding Source: UniProtKB

    GO - Biological processi

    1. aerobic respiration Source: ProtInc
    2. cellular metabolic process Source: Reactome
    3. respiratory electron transport chain Source: Reactome
    4. small molecule metabolic process Source: Reactome
    5. succinate metabolic process Source: Ensembl
    6. tricarboxylic acid cycle Source: Reactome

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Electron transport, Transport, Tricarboxylic acid cycle

    Keywords - Ligandi

    2Fe-2S, 3Fe-4S, 4Fe-4S, Iron, Iron-sulfur, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000117118-MONOMER.
    ReactomeiREACT_1785. Citric acid cycle (TCA cycle).
    REACT_22393. Respiratory electron transport.
    UniPathwayiUPA00223; UER01006.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial (EC:1.3.5.1)
    Alternative name(s):
    Iron-sulfur subunit of complex II
    Short name:
    Ip
    Gene namesi
    Name:SDHB
    Synonyms:SDH, SDH1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:10681. SDHB.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. mitochondrial inner membrane Source: UniProtKB
    3. mitochondrial respiratory chain complex II Source: UniProtKB
    4. mitochondrion Source: ProtInc

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.7 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Paragangliomas 4 (PGL4) [MIM:115310]: 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti46 – 461R → Q in pheochromocytoma and PGL4. 3 Publications
    VAR_054377
    Natural varianti131 – 1311P → R in PGL4. 1 Publication
    VAR_018518
    Natural varianti132 – 1321H → P in PGL4. 1 Publication
    VAR_037621
    Natural varianti197 – 1971P → R in PGL4. 2 Publications
    VAR_017868
    Natural varianti242 – 2421R → H in familial malignant paraganglioma and pheochromocytoma, pheochromocytoma and PGL4. 3 Publications
    VAR_017869
    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.
    Cowden syndrome 2 (CWS2) [MIM:612359]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31A → G in CWS2; uncertain pathological significance; associated with increased manganese superoxide dismutase expression and normal levels of reactive oxygen species; associated with a 1.2-fold increase in AKT expression and 1.3-fold change in MAPK expression. 1 Publication
    Corresponds to variant rs11203289 [ dbSNP | Ensembl ].
    VAR_054374
    Natural varianti163 – 1631S → P in CWS2; uncertain pathological significance; associated with increased manganese superoxide dismutase function and increased levels of reactive oxygen species; associated with a 2.7-fold change in AKT expression and a 1.7-fold increase in MAPK expression. 1 Publication
    Corresponds to variant rs33927012 [ dbSNP | Ensembl ].
    VAR_054382

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi115310. phenotype.
    171300. phenotype.
    606864. phenotype.
    612359. phenotype.
    Orphaneti97286. Carney-Stratakis syndrome.
    201. Cowden syndrome.
    44890. Gastrointestinal stromal tumor.
    29072. Hereditary pheochromocytoma-paraganglioma.
    3208. Isolated succinate-CoQ reductase deficiency.
    PharmGKBiPA35606.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 2828MitochondrionAdd
    BLAST
    Chaini29 – 280252Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialPRO_0000010355Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei51 – 511N6-acetyllysineBy similarity
    Modified residuei55 – 551N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP21912.
    PaxDbiP21912.
    PeptideAtlasiP21912.
    PRIDEiP21912.

    2D gel databases

    UCD-2DPAGEP21912.

    PTM databases

    PhosphoSiteiP21912.

    Expressioni

    Gene expression databases

    ArrayExpressiP21912.
    BgeeiP21912.
    CleanExiHS_SDHB.
    GenevestigatoriP21912.

    Organism-specific databases

    HPAiCAB009822.
    HPA002867.
    HPA002868.

    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.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    SDHAP310402EBI-1056481,EBI-1057265

    Protein-protein interaction databases

    BioGridi112291. 45 interactions.
    IntActiP21912. 10 interactions.
    MINTiMINT-3009566.
    STRINGi9606.ENSP00000364649.

    Structurei

    3D structure databases

    ProteinModelPortaliP21912.
    SMRiP21912. Positions 37-275.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini40 – 133942Fe-2S ferredoxin-typePROSITE-ProRule annotationAdd
    BLAST
    Domaini176 – 206314Fe-4S ferredoxin-typePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 2Fe-2S ferredoxin-type domain.PROSITE-ProRule annotation
    Contains 1 4Fe-4S ferredoxin-type domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0479.
    HOGENOMiHOG000160590.
    HOVERGENiHBG005483.
    InParanoidiP21912.
    KOiK00235.
    OMAiIMNCSRT.
    OrthoDBiEOG7H4DTN.
    PhylomeDBiP21912.
    TreeFamiTF300754.

    Family and domain databases

    Gene3Di3.10.20.30. 1 hit.
    InterProiIPR001041. 2Fe-2S_ferredoxin-type.
    IPR006058. 2Fe2S_fd_BS.
    IPR017896. 4Fe4S_Fe-S-bd.
    IPR017900. 4Fe4S_Fe_S_CS.
    IPR012675. Beta-grasp_dom.
    IPR009051. Helical_ferredxn.
    IPR004489. Succ_DH/fum_Rdtase_Fe-S.
    IPR025192. Succ_DH/fum_Rdtase_N.
    [Graphical view]
    PfamiPF13085. Fer2_3. 1 hit.
    [Graphical view]
    SUPFAMiSSF46548. SSF46548. 1 hit.
    SSF54292. SSF54292. 1 hit.
    TIGRFAMsiTIGR00384. dhsB. 1 hit.
    PROSITEiPS00197. 2FE2S_FER_1. 1 hit.
    PS51085. 2FE2S_FER_2. 1 hit.
    PS00198. 4FE4S_FER_1. 1 hit.
    PS51379. 4FE4S_FER_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    P21912-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAAVVALSLR RRLPATTLGG ACLQASRGAQ TAAATAPRIK KFAIYRWDPD    50
    KAGDKPHMQT YEVDLNKCGP MVLDALIKIK NEVDSTLTFR RSCREGICGS 100
    CAMNINGGNT LACTRRIDTN LNKVSKIYPL PHMYVIKDLV PDLSNFYAQY 150
    KSIEPYLKKK DESQEGKQQY LQSIEEREKL DGLYECILCA CCSTSCPSYW 200
    WNGDKYLGPA VLMQAYRWMI DSRDDFTEER LAKLQDPFSL YRCHTIMNCT 250
    RTCPKGLNPG KAIAEIKKMM ATYKEKKASV 280
    Length:280
    Mass (Da):31,630
    Last modified:May 2, 2002 - v3
    Checksum:iED12E7C3BA7B6D13
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti19 – 213GGA → WRT in AAA35708. (PubMed:2302193)Curated
    Sequence conflicti19 – 213GGA → WRT in BAA01089. (PubMed:2302193)Curated
    Sequence conflicti62 – 621E → K in AAA81167. (PubMed:7622059)Curated
    Sequence conflicti62 – 621E → K in AAA35708. (PubMed:2302193)Curated
    Sequence conflicti62 – 621E → K in BAA01089. (PubMed:2302193)Curated
    Sequence conflicti67 – 671K → NR in AAA80581. (PubMed:7622059)Curated
    Sequence conflicti151 – 1511K → R no nucleotide entry (PubMed:2494655)Curated
    Sequence conflicti172 – 1721Q → E no nucleotide entry (PubMed:2494655)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31A → G in CWS2; uncertain pathological significance; associated with increased manganese superoxide dismutase expression and normal levels of reactive oxygen species; associated with a 1.2-fold increase in AKT expression and 1.3-fold change in MAPK expression. 1 Publication
    Corresponds to variant rs11203289 [ dbSNP | Ensembl ].
    VAR_054374
    Natural varianti29 – 291A → AQ in pheochromocytoma. 1 Publication
    VAR_035063
    Natural varianti40 – 401K → E.1 Publication
    VAR_054375
    Natural varianti43 – 431A → P in pheochromocytoma. 1 Publication
    VAR_054376
    Natural varianti46 – 461R → G in pheochromocytoma. 3 Publications
    VAR_035064
    Natural varianti46 – 461R → Q in pheochromocytoma and PGL4. 3 Publications
    VAR_054377
    Natural varianti53 – 531G → R in pheochromocytoma. 1 Publication
    VAR_054378
    Natural varianti65 – 651L → H in pheochromocytoma. 1 Publication
    VAR_054379
    Natural varianti65 – 651L → P in pheochromocytoma. 1 Publication
    VAR_054380
    Natural varianti87 – 871L → S in pheochromocytoma. 2 Publications
    VAR_018517
    Natural varianti100 – 1001S → F in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function. 1 Publication
    VAR_037620
    Natural varianti101 – 1011C → Y in pheochromocytoma. 2 Publications
    VAR_035065
    Natural varianti127 – 1271I → N in pheochromocytoma. 1 Publication
    VAR_054381
    Natural varianti131 – 1311P → R in PGL4. 1 Publication
    VAR_018518
    Natural varianti132 – 1321H → P in PGL4. 1 Publication
    VAR_037621
    Natural varianti163 – 1631S → P in CWS2; uncertain pathological significance; associated with increased manganese superoxide dismutase function and increased levels of reactive oxygen species; associated with a 2.7-fold change in AKT expression and a 1.7-fold increase in MAPK expression. 1 Publication
    Corresponds to variant rs33927012 [ dbSNP | Ensembl ].
    VAR_054382
    Natural varianti192 – 1921C → R in pheochromocytoma. 2 Publications
    VAR_035066
    Natural varianti196 – 1961C → Y in pheochromocytoma. 2 Publications
    VAR_035067
    Natural varianti197 – 1971P → R in PGL4. 2 Publications
    VAR_017868
    Natural varianti230 – 2301R → C in pheochromocytoma. 1 Publication
    Corresponds to variant rs138996609 [ dbSNP | Ensembl ].
    VAR_054383
    Natural varianti242 – 2421R → H in familial malignant paraganglioma and pheochromocytoma, pheochromocytoma and PGL4. 3 Publications
    VAR_017869

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U17248 mRNA. Translation: AAA81167.1.
    U17886
    , U17296, U17880, U17881, U17882, U17883, U17884, U17885 Genomic DNA. Translation: AAA80581.1.
    AK312056 mRNA. Translation: BAG34992.1.
    AL049569 Genomic DNA. Translation: CAB96822.1.
    CH471134 Genomic DNA. Translation: EAW94828.1.
    BC007840 mRNA. Translation: AAH07840.1.
    DQ403007 mRNA. Translation: ABD77140.1.
    D10245 mRNA. Translation: BAA01089.1.
    M32246 mRNA. Translation: AAA35708.1.
    CCDSiCCDS176.1.
    PIRiI38895.
    RefSeqiNP_002991.2. NM_003000.2.
    UniGeneiHs.465924.

    Genome annotation databases

    EnsembliENST00000375499; ENSP00000364649; ENSG00000117118.
    GeneIDi6390.
    KEGGihsa:6390.
    UCSCiuc001bae.3. human.

    Polymorphism databases

    DMDMi20455488.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    TCA Cycle Gene Mutation Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U17248 mRNA. Translation: AAA81167.1 .
    U17886
    , U17296 , U17880 , U17881 , U17882 , U17883 , U17884 , U17885 Genomic DNA. Translation: AAA80581.1 .
    AK312056 mRNA. Translation: BAG34992.1 .
    AL049569 Genomic DNA. Translation: CAB96822.1 .
    CH471134 Genomic DNA. Translation: EAW94828.1 .
    BC007840 mRNA. Translation: AAH07840.1 .
    DQ403007 mRNA. Translation: ABD77140.1 .
    D10245 mRNA. Translation: BAA01089.1 .
    M32246 mRNA. Translation: AAA35708.1 .
    CCDSi CCDS176.1.
    PIRi I38895.
    RefSeqi NP_002991.2. NM_003000.2.
    UniGenei Hs.465924.

    3D structure databases

    ProteinModelPortali P21912.
    SMRi P21912. Positions 37-275.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112291. 45 interactions.
    IntActi P21912. 10 interactions.
    MINTi MINT-3009566.
    STRINGi 9606.ENSP00000364649.

    Chemistry

    DrugBanki DB00139. Succinic acid.

    PTM databases

    PhosphoSitei P21912.

    Polymorphism databases

    DMDMi 20455488.

    2D gel databases

    UCD-2DPAGE P21912.

    Proteomic databases

    MaxQBi P21912.
    PaxDbi P21912.
    PeptideAtlasi P21912.
    PRIDEi P21912.

    Protocols and materials databases

    DNASUi 6390.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000375499 ; ENSP00000364649 ; ENSG00000117118 .
    GeneIDi 6390.
    KEGGi hsa:6390.
    UCSCi uc001bae.3. human.

    Organism-specific databases

    CTDi 6390.
    GeneCardsi GC01M017345.
    GeneReviewsi SDHB.
    HGNCi HGNC:10681. SDHB.
    HPAi CAB009822.
    HPA002867.
    HPA002868.
    MIMi 115310. phenotype.
    171300. phenotype.
    185470. gene.
    606864. phenotype.
    612359. phenotype.
    neXtProti NX_P21912.
    Orphaneti 97286. Carney-Stratakis syndrome.
    201. Cowden syndrome.
    44890. Gastrointestinal stromal tumor.
    29072. Hereditary pheochromocytoma-paraganglioma.
    3208. Isolated succinate-CoQ reductase deficiency.
    PharmGKBi PA35606.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0479.
    HOGENOMi HOG000160590.
    HOVERGENi HBG005483.
    InParanoidi P21912.
    KOi K00235.
    OMAi IMNCSRT.
    OrthoDBi EOG7H4DTN.
    PhylomeDBi P21912.
    TreeFami TF300754.

    Enzyme and pathway databases

    UniPathwayi UPA00223 ; UER01006 .
    BioCyci MetaCyc:ENSG00000117118-MONOMER.
    Reactomei REACT_1785. Citric acid cycle (TCA cycle).
    REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    GeneWikii SDHB.
    GenomeRNAii 6390.
    NextBioi 24824.
    PROi P21912.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P21912.
    Bgeei P21912.
    CleanExi HS_SDHB.
    Genevestigatori P21912.

    Family and domain databases

    Gene3Di 3.10.20.30. 1 hit.
    InterProi IPR001041. 2Fe-2S_ferredoxin-type.
    IPR006058. 2Fe2S_fd_BS.
    IPR017896. 4Fe4S_Fe-S-bd.
    IPR017900. 4Fe4S_Fe_S_CS.
    IPR012675. Beta-grasp_dom.
    IPR009051. Helical_ferredxn.
    IPR004489. Succ_DH/fum_Rdtase_Fe-S.
    IPR025192. Succ_DH/fum_Rdtase_N.
    [Graphical view ]
    Pfami PF13085. Fer2_3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46548. SSF46548. 1 hit.
    SSF54292. SSF54292. 1 hit.
    TIGRFAMsi TIGR00384. dhsB. 1 hit.
    PROSITEi PS00197. 2FE2S_FER_1. 1 hit.
    PS51085. 2FE2S_FER_2. 1 hit.
    PS00198. 4FE4S_FER_1. 1 hit.
    PS51379. 4FE4S_FER_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase."
      Au H.C., Ream-Robinson D., Bellew L.A., Broomfield P.L.E., Saghbini M., Scheffler I.E.
      Gene 159:249-253(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Tissue: Liver.
    2. "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].
      Tissue: Uterus.
    3. "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].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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].
      Tissue: Brain.
    6. "Housekeeping genes for phylogenetic analysis of eutherian relationships."
      Kullberg M., Nilsson M.A., Arnason U., Harley E.H., Janke A.
      Mol. Biol. Evol. 23:1493-1503(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 10-264.
    7. "Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria."
      Kita K., Oya H., Gennis R.B., Ackrell B.A.C., Kasahara M.
      Biochem. Biophys. Res. Commun. 166:101-108(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 19-280.
      Tissue: Liver.
    8. "Use of the DNA polymerase chain reaction for homology probing: isolation of partial cDNA or genomic clones encoding the iron-sulfur protein of succinate dehydrogenase from several species."
      Gould S.J., Subramani S., Scheffler I.E.
      Proc. Natl. Acad. Sci. U.S.A. 86:1934-1938(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 107-249.
      Tissue: Fibroblast.
    9. Erratum
      Gould S.J., Subramani S., Scheffler I.E.
      Proc. Natl. Acad. Sci. U.S.A. 90:2556-2556(1993)
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma."
      Astuti D., Latif F., Dallol A., Dahia P.L.M., Douglas F., George E., Skoeldberg F., Husebye E.S., Eng C., Maher E.R.
      Am. J. Hum. Genet. 69:49-54(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PGL4 ARG-197, VARIANT PHEOCHROMOCYTOMA SER-87.
    12. "Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene."
      Young A.L., Baysal B.E., Deb A., Young W.F. Jr.
      J. Clin. Endocrinol. Metab. 87:4101-4105(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FAMILIAL MALIGNANT PARAGANGLIOMA HIS-242.
    13. "Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas."
      Baysal B.E., Willett-Brozick J.E., Lawrence E.C., Drovdlic C.M., Savul S.A., McLeod D.R., Yee H.A., Brackmann D.E., Slattery W.H. III, Myers E.N., Ferrell R.E., Rubinstein W.S.
      J. Med. Genet. 39:178-183(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PGL4 ARG-131.
    14. Cited for: VARIANTS PHEOCHROMOCYTOMA GLN-29 INS; GLY-46; TYR-101; ARG-192; TYR-196 AND HIS-242.
    15. "Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas."
      Gimenez-Roqueplo A.-P., Favier J., Rustin P., Rieubland C., Crespin M., Nau V., Khau Van Kien P., Corvol P., Plouin P.-F., Jeunemaitre X.
      Cancer Res. 63:5615-5621(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PHEOCHROMOCYTOMA PRO-43; GLN-46; GLY-46 AND CYS-230.
    16. "Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility."
      Astuti D., Hart-Holden N., Latif F., Lalloo F., Black G.C., Lim C., Moran A., Grossman A.B., Hodgson S.V., Freemont A., Ramsden R., Eng C., Evans D.G.R., Maher E.R.
      Clin. Endocrinol. (Oxf.) 59:728-733(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PHEOCHROMOCYTOMA ASN-127, VARIANT PGL4 ARG-197.
    17. "Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas."
      Benn D.E., Croxson M.S., Tucker K., Bambach C.P., Richardson A.L., Delbridge L., Pullan P.T., Hammond J., Marsh D.J., Robinson B.G.
      Oncogene 22:1358-1364(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PHEOCHROMOCYTOMA GLN-46 AND HIS-65.
    18. "K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma."
      McDonnell C.M., Benn D.E., Marsh D.J., Robinson B.G., Zacharin M.R.
      Clin. Endocrinol. (Oxf.) 61:510-514(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLU-40.
    19. Cited for: VARIANTS PHEOCHROMOCYTOMA GLY-46; GLN-46; ARG-53; PRO-65; SER-87; TYR-101; ARG-192; TYR-196 AND HIS-242, VARIANTS PGL4 GLN-46 AND HIS-242.
    20. "A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas."
      Maier-Woelfle M., Braendle M., Komminoth P., Saremaslani P., Schmid S., Locher T., Heitz P.U., Krull I., Galeazzi R.L., Schmid C., Perren A.
      J. Clin. Endocrinol. Metab. 89:362-367(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PGL4 PRO-132.
    21. Cited for: VARIANT PHEOCHROMOCYTOMA PHE-100.
    22. "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.
    23. "Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes."
      Ni Y., Zbuk K.M., Sadler T., Patocs A., Lobo G., Edelman E., Platzer P., Orloff M.S., Waite K.A., Eng C.
      Am. J. Hum. Genet. 83:261-268(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CWS2 GLY-3 AND PRO-163, CHARACTERIZATION OF VARIANTS CWS2 GLY-3 AND PRO-163.

    Entry informationi

    Entry nameiSDHB_HUMAN
    AccessioniPrimary (citable) accession number: P21912
    Secondary accession number(s): B2R545, Q0QEY7, Q9NQ12
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 1, 1991
    Last sequence update: May 2, 2002
    Last modified: October 1, 2014
    This is version 171 of the entry and version 3 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. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3