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P21912

- SDHB_HUMAN

UniProt

P21912 - SDHB_HUMAN

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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

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

Protein has several cofactor binding sites:

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. succinate dehydrogenase (ubiquinone) activity Source: UniProtKB-EC
  7. 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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP21912.
CleanExiHS_SDHB.
ExpressionAtlasiP21912. baseline and differential.
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.
GeneTreeiENSGT00390000013558.
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

        10         20         30         40         50
MAAVVALSLR RRLPATTLGG ACLQASRGAQ TAAATAPRIK KFAIYRWDPD
60 70 80 90 100
KAGDKPHMQT YEVDLNKCGP MVLDALIKIK NEVDSTLTFR RSCREGICGS
110 120 130 140 150
CAMNINGGNT LACTRRIDTN LNKVSKIYPL PHMYVIKDLV PDLSNFYAQY
160 170 180 190 200
KSIEPYLKKK DESQEGKQQY LQSIEEREKL DGLYECILCA CCSTSCPSYW
210 220 230 240 250
WNGDKYLGPA VLMQAYRWMI DSRDDFTEER LAKLQDPFSL YRCHTIMNCT
260 270 280
RTCPKGLNPG KAIAEIKKMM ATYKEKKASV
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00390000013558.
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

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

Gene expression databases

Bgeei P21912.
CleanExi HS_SDHB.
ExpressionAtlasi P21912. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 173 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