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

Identity

Other names	SDH1 (succinate dehydrogenase 1)
HGNC	SDHB
Location	1p36.1-p35

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.END_PROTEIN_DESCRIPTION

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	SDHB   10681
Entrez_Gene	SDHB  6390  succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
	Cards
Atlas	SDHBID388
GeneCards	SDHB
Ensembl	SDHB [Search_View]   ENSG00000117118 [Gene_View]
Genatlas	SDHB
GeneLynx	SDHB
eGenome	SDHB
euGene	6390
	Genomic and cartography
GoldenPath	SDHB  -     chr1:17217812-17253252 -  1p36.1-p35   [Description]    (hg18-Mar_2006)
Ensembl	SDHB - 1p36.1-p35 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	SDHB
	Gene and transcription
Genbank	AK312056 [ ENTREZ ]
Genbank	BC007840 [ ENTREZ ]
Genbank	BF796275 [ ENTREZ ]
Genbank	BU554163 [ ENTREZ ]
Genbank	CR593493 [ ENTREZ ]
RefSeq	NM_003000 [ SRS ]    NM_003000 [ ENTREZ ]
RefSeq	AC_000044 [ SRS ]    AC_000044 [ ENTREZ ]
RefSeq	AC_000133 [ SRS ]    AC_000133 [ ENTREZ ]
RefSeq	NC_000001 [ SRS ]    NC_000001 [ ENTREZ ]
RefSeq	NT_004610 [ SRS ]    NT_004610 [ ENTREZ ]
RefSeq	NW_001838572 [ SRS ]    NW_001838572 [ ENTREZ ]
RefSeq	NW_927841 [ SRS ]    NW_927841 [ ENTREZ ]
AceView	SDHB AceView - NCBI
Unigene	Hs.465924 [ SRS ]    Hs.465924 [ NCBI ]     HS465924 [ spliceNest ]
Fast-db	7840 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P21912 [ SRS]    P21912 [ EXPASY ]     P21912 [ INTERPRO ]     P21912 [ UNIPROT ]
Prosite	PS00197 2FE2S_FER_1 [ SRS ]    PS00197 2FE2S_FER_1 [ Expasy ]
Prosite	PS51085 2FE2S_FER_2 [ SRS ]    PS51085 2FE2S_FER_2 [ Expasy ]
Prosite	PS00198 4FE4S_FER_1 [ SRS ]    PS00198 4FE4S_FER_1 [ Expasy ]
Prosite	PS51379 4FE4S_FER_2 [ SRS ]    PS51379 4FE4S_FER_2 [ Expasy ]
Interpro	IPR006058 2Fe2S_fd_BS [ SRS ]    IPR006058 2Fe2S_fd_BS [ EBI ]
Interpro	IPR001450 4Fe4S_Fe_S_bd [ SRS ]    IPR001450 4Fe4S_Fe_S_bd [ EBI ]
Interpro	IPR012675 b-grasp_ferredoxin-like [ SRS ]    IPR012675 b-grasp_ferredoxin-like [ EBI ]
Interpro	IPR001041 Ferredoxin [ SRS ]    IPR001041 Ferredoxin [ EBI ]
Interpro	IPR012285 Fum_reductase_C [ SRS ]    IPR012285 Fum_reductase_C [ EBI ]
Interpro	IPR004489 Succ_DHase/fum_Rdtase_Fe-S [ SRS ]    IPR004489 Succ_DHase/fum_Rdtase_Fe-S [ EBI ]
CluSTr	P21912
Pfam	PF00111 Fer2 [ SRS ]    PF00111 Fer2 [ Sanger ]    pfam00111 [ NCBI-CDD ]
Blocks	P21912
HPRD	01707
	Protein Interaction databases
DIP	P21912
IntAct	P21912
	Polymorphism : SNP, mutations, diseases
OMIM	115310;171300;185470;606864    [ map ]
GENECLINICS	115310;171300;185470;606864
SNP	SDHB [dbSNP-NCBI]
SNP	NM_003000 [SNP-NCI]
SNP	SDHB [GeneSNPs - Utah]  SDHB] [HGBASE - SRS]
HAPMAP	SDHB [HAPMAP]
COSMIC	SDHB [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	SDHB
	General knowledge
Family Browser	SDHB [UCSC Family Browser]
SOURCE	NM_003000
SMD	Hs.465924
SAGE	Hs.465924
Enzyme	1.3.5.1 [ Enzyme-Expasy ]   1.3.5.1 [ Enzyme-SRS ]   1.3.5.1 [ IntEnz-EBI ]   1.3.5.1 [ BRENDA ]   1.3.5.1 [ KEGG ]   1.3.5.1 [ WIT ]
GO	iron ion binding [Amigo]  iron ion binding
GO	mitochondrion [Amigo]  mitochondrion
GO	mitochondrial inner membrane [Amigo]  mitochondrial inner membrane
GO	mitochondrial inner membrane [Amigo]  mitochondrial inner membrane
GO	tricarboxylic acid cycle [Amigo]  tricarboxylic acid cycle
GO	transport [Amigo]  transport
GO	succinate dehydrogenase (ubiquinone) activity [Amigo]  succinate dehydrogenase (ubiquinone) activity
GO	electron carrier activity [Amigo]  electron carrier activity
GO	membrane [Amigo]  membrane
GO	oxidoreductase activity [Amigo]  oxidoreductase activity
GO	metal ion binding [Amigo]  metal ion binding
GO	2 iron, 2 sulfur cluster binding [Amigo]  2 iron, 2 sulfur cluster binding
GO	3 iron, 4 sulfur cluster binding [Amigo]  3 iron, 4 sulfur cluster binding
GO	4 iron, 4 sulfur cluster binding [Amigo]  4 iron, 4 sulfur cluster binding
GO	oxidation reduction [Amigo]  oxidation reduction
KEGG	Citrate cycle (TCA cycle)
KEGG	Oxidative phosphorylation
PubGene	SDHB
TreeFam	SDHB
CTD	6390 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SDHB Related clones (RZPD - Berlin)
	PubMed
PubMed	44 Pubmed reference(s) in LocusLink

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, Skˆ�ldberg 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

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Last year publications	automatic search in PubMed

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Contributor(s)

Written	04-2002	Anne-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 : Mon Aug 11 21:17:23 2008