Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SDHB (succinate dehydrogenase complex II, subunit B, iron-sulfur protein or IP)

Identity

Other namesSDH1 (succinate dehydrogenase 1)
HGNC (Hugo) SDHB
Location 1p36.1-p35
Location_base_pair Starts at 17217812 and ends at 17253252 bp from pter ( according to hg18-Mar_2006)  [Mapping]

DNA/RNA

Description 1123 bp, 8 exons

Protein

Description 280 amino acids and 31 kDa
Expression widely expressed
Localisation mitochondrial inner membrane
Function The complex II (succinate-ubiquinone oxidoreductase) is un key component of the mitochondrial respiratory chain and the tricarboxylic acid cycle. It is involved in the oxidation of succinate (succinate + ubiquinone = fumarate + ubiquinol) and carries electrons from FADH to CoQ. It is composed of four nuclear-encoded subunits. The subunit B protein or iron-sulfur protein, which binds three different iron-sulfur clusters, is directly involved in the catalytic activity of succinate dehydrogenase.
Homology The complex II includes SDHD (cybS) and SDHC (cybL) which are also implicated in paragangliomas and pheochromocytomas.

Mutations

Germinal Germline mutations cause hereditary paraganglioma, non-familial paraganglioma, familial and sporadic pheochromocytomas. Different germline mutations have been reported: i) a nonsense mutation (R90X) in a family with cervical paraganglioma and ectopic pheochromocytoma, ii) a missense mutation (P197R) in a family with extraadrenal pheochromocytoma and a 1bp deletion in a sporadic pheochromocytoma, iii) a missense (P131R) mutation and 1 bp insertion (M71fsX80) in familial paraganglioma and a nonsense mutation (Q59X) in sporadic paraganglioma.
Somatic Loss of wild type allele in tumor DNA is usually observed.

Implicated in

Entity Hereditary paraganglioma type 4
Note Alias: Familial non chromaffin paragangliomas 4; Familial glomus tumor; Familial and sporadic pheochromocytoma
Disease Hereditary paraganglioma type 4 (PGL4) is a rare autosomal dominant disorder non maternally imprinted. Paragangliomas are slow growing highly vascular tumor, usually benigns, derived from crest-neural cells. They are preferentially located in the neck (carotid body and glomus vagal) and head (glomus jugulare and tympanicum). They may be associated with adrenal or extraadrenal pheochromocytomas which produce catecholamines.
Prognosis It depends on extent of the disease at the time of diagnosis.
  

External links

Nomenclature
HGNC (Hugo)SDHB   10681
Entrez_Gene (NCBI)SDHB  6390  succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
Cards
AtlasSDHBID388
GeneCards (Weizmann)SDHB
Ensembl (Hinxton)ENSG00000117118 [Gene_View]  SDHB [Vega]
AceView (NCBI)SDHB
Genatlas (Paris)SDHB
euGene (Indiana)6390
SOURCE (Stanford)NM_003000
Genomic and cartography
GoldenPath (UCSC)SDHB  -     chr1:17217812-17253252 -  1p36.1-p35   [Description]    (hg18-Mar_2006)
EnsemblSDHB - 1p36.1-p35 [CytoView]
Mapping of homologs : NCBISDHB [Mapview]
OMIM115310   171300   185470   606864   612359   
Gene and transcription
Gene : Genbank (Entrez)AK312056 BC007840 BF796275 BU554163 CR593493
Reference sequence (RefSeq transcript) :SRSNM_003000
Reference transcript : EntrezNM_003000
RefSeq genomic : SRSAC_000044 AC_000133 NC_000001 NT_004610 NW_001838572 NW_927841
RefSeq genomic : EntrezAC_000044 AC_000133 NC_000001 NT_004610 NW_001838572 NW_927841
Consensus coding sequences : CCDS NCBISDHB
Cluster EST : UnigeneHs.465924 [ SRS ] Hs.465924 [ NCBI ]
Alternative Splicing : Fast-db (Paris)7840
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP21912 (SRS) P21912 (Expasy) P21912 (Uniprot)
With graphics : InterProP21912
Splice isoforms : VarSplice FASTAP21912(VarSplice FASTA)
Domaine pattern : Prosite (SRS)2FE2S_FER_1 (PS00197)    2FE2S_FER_2 (PS51085)    4FE4S_FER_1 (PS00198)    4FE4S_FER_2 (PS51379)   
Domain pattern : Prosite (Expaxy)2FE2S_FER_1 (PS00197)    2FE2S_FER_2 (PS51085)    4FE4S_FER_1 (PS00198)    4FE4S_FER_2 (PS51379)   
Domains : Interpro (SRS)2Fe2S_fd_BS    4Fe4S_Fe_S_bd    b-grasp_ferredoxin-like    Ferredoxin    Fum_reductase_C    Succ_DHase/fum_Rdtase_Fe-S   
Domains : Interpro (EBI)2Fe2S_fd_BS    4Fe4S_Fe_S_bd    b-grasp_ferredoxin-like    Ferredoxin    Fum_reductase_C    Succ_DHase/fum_Rdtase_Fe-S   
Related proteins : CluSTrP21912
Domain families : Pfam SRSFer2 (PF00111)   
Domain families : Pfam SangerFer2 (PF00111)   
Domain families : Pfam NCBIpfam00111   
Blocks (Seattle)P21912
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD01707
Protein Interaction databases
DIP (DOE-UCLA)P21912
IntAct (EBI)P21912
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBISDHB
SNP : GeneSNP UtahSDHB
SNP : HGBaseSDHB
Genetic variants : HAPMAPSDHB
Somatic Mutations in Cancer : COSMICSDHB 
Mutations and Diseases : HGMDSDHB
Hereditary diseases : OMIM115310    171300    185470    606864    612359   
Hereditary diseases : GENETests115310    171300    185470    606864    612359   
Diseases : Genetic AssociationSDHB
General knowledge
Homologs : HomoloGeneSDHB
Homology/Alignments : Family Browser UCSCSDHB
Phylogenetic Trees/Animal Genes : TreeFamSDHB
Catalytic activity : Enzyme1.3.5.1 [ Enzyme-Expasy ]   1.3.5.1 [ Enzyme-SRS ]   1.3.5.1 [ IntEnz-EBI ]   1.3.5.1 [ BRENDA ]   1.3.5.1 [ KEGG ]   
Chemical/Protein Interactions : CTD6390
Keywords Ontology : AmiGOiron ion binding  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  tricarboxylic acid cycle  transport  succinate dehydrogenase (ubiquinone) activity  electron carrier activity  membrane  oxidoreductase activity  electron transport chain  metal ion binding  2 iron, 2 sulfur cluster binding  3 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster binding  
Keywords Ontology : EGO-EBIiron ion binding  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  tricarboxylic acid cycle  transport  succinate dehydrogenase (ubiquinone) activity  electron carrier activity  membrane  oxidoreductase activity  electron transport chain  metal ion binding  2 iron, 2 sulfur cluster binding  3 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster binding  
Pathways : BIOCARTA
Pathways : KEGGCitrate cycle (TCA cycle)Oxidative phosphorylation
Other databases
Probes
Probes : ImagenesSDHB Related clones (RZPD - Berlin)
Literature
PubMed50 Pubmed reference(s) in Entrez
PubGeneSDHB

Bibliography

RASSF1A is part of a complex similar to the Drosophila Hippo/Salvador/Lats tumor-suppressor network.
Guo C, Tommasi S, Liu L, Yee JK, Dammann R, Pfeifer GP
Current biology : CB. 2007 ; 17 (8) : 700-705.
PMID 17379520
 
The gene for the iron sulfur protein of succinate dehydrogenase (SDH-IP) maps to human chromosome 1p35-36.1.
Leckschat S, Ream-Robinson D, Scheffler IE
Somatic cell and molecular genetics. 1993 ; 19 (5) : 505-511.
PMID 8291026
 
Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase.
Au HC, Ream-Robinson D, Bellew LA, Broomfield PL, Saghbini M, Scheffler IE
Gene. 1995 ; 159 (2) : 249-253.
PMID 7622059
 
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.
Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skˆldberg F, Husebye ES, Eng C, Maher ER
American journal of human genetics. 2001 ; 69 (1) : 49-54.
PMID 11404820
 
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH 3rd, Myers EN, Ferrell RE, Rubinstein WS
Journal of medical genetics. 2002 ; 39 (3) : 178-183.
PMID 11897817
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written04-2002Anne-Paule Gimenez-Roqueplo
Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, 20-40, rue Leblanc, 75908 Paris cedex 15, France

Citation

This paper should be referenced as such :
Gimenez-Roqueplo AP . SDHB (succinate dehydrogenase complex II, subunit B, iron-sulfur protein or IP). Atlas Genet Cytogenet Oncol Haematol. April 2002 .
URL : http://AtlasGeneticsOncology.org/Genes/SDHBID388.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 16:36:50 CEST 2009

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.