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O14521

- DHSD_HUMAN

UniProt

O14521 - DHSD_HUMAN

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Protein
Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Gene
SDHD, SDH4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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) By similarity.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi102 – 1021Iron (heme axial ligand); shared with SDHC By similarity
Binding sitei114 – 1141Ubiquinone; shared with IP/SDHB By similarity

GO - Molecular functioni

  1. electron carrier activity Source: UniProtKB
  2. heme binding Source: UniProtKB
  3. metal ion binding Source: UniProtKB-KW
  4. succinate dehydrogenase activity Source: UniProtKB
  5. ubiquinone binding Source: UniProtKB

GO - Biological processi

  1. cellular metabolic process Source: Reactome
  2. respiratory electron transport chain Source: Reactome
  3. small molecule metabolic process Source: Reactome
  4. tricarboxylic acid cycle Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Electron transport, Transport, Tricarboxylic acid cycle

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000150781-MONOMER.
ReactomeiREACT_1785. Citric acid cycle (TCA cycle).
REACT_22393. Respiratory electron transport.
UniPathwayiUPA00223.

Names & Taxonomyi

Protein namesi
Recommended name:
Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Short name:
CybS
Alternative name(s):
CII-4
QPs3
Succinate dehydrogenase complex subunit D
Succinate-ubiquinone oxidoreductase cytochrome b small subunit
Succinate-ubiquinone reductase membrane anchor subunit
Gene namesi
Name:SDHD
Synonyms:SDH4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:10683. SDHD.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini57 – 637Mitochondrial matrix By similarity
Transmembranei64 – 8522Helical; By similarity
Add
BLAST
Topological domaini86 – 905Mitochondrial intermembrane By similarity
Transmembranei91 – 11121Helical; By similarity
Add
BLAST
Topological domaini112 – 1209Mitochondrial matrix By similarity
Transmembranei121 – 14222Helical; By similarity
Add
BLAST
Topological domaini143 – 15917Mitochondrial intermembrane By similarity
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial envelope Source: ProtInc
  3. mitochondrial inner membrane Source: UniProtKB
  4. mitochondrial respiratory chain complex II Source: UniProtKB
  5. mitochondrion Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Paragangliomas 1 (PGL1) [MIM:168000]: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti81 – 811P → L in PGL1 and pheochromocytoma. 3 Publications
VAR_010038
Natural varianti92 – 921D → Y in PGL1 and pheochromocytoma. 4 Publications
VAR_010039
Natural varianti93 – 931Missing in PGL1. 1 Publication
VAR_018519
Natural varianti102 – 1021H → L in PGL1. 1 Publication
VAR_010040
Natural varianti114 – 1141Y → C in PGL1. 2 Publications
VAR_017872
Natural varianti139 – 1391L → P in PGL1. 1 Publication
VAR_017873
Natural varianti148 – 1481G → V in PGL1. 1 Publication
VAR_054385
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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Intestinal carcinoid tumor (ICT) [MIM:114900]: A yellow, well-differentiated, circumscribed tumor that arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the gastrointestinal tract.
Note: Disease susceptibility is associated with variations 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Cowden syndrome 3 (CWS3) [MIM:615106]: 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.
Note: The disease may be caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi114900. phenotype.
168000. phenotype.
171300. phenotype.
606864. phenotype.
615106. phenotype.
Orphaneti100093. Carcinoid tumor and carcinoid syndrome.
97286. Carney-Stratakis syndrome.
201. Cowden syndrome.
29072. Hereditary pheochromocytoma-paraganglioma.
3208. Isolated succinate-CoQ reductase deficiency.
PharmGKBiPA35608.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 5656Mitochondrion Reviewed prediction
Add
BLAST
Chaini57 – 159103Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
PRO_0000006487Add
BLAST

Proteomic databases

MaxQBiO14521.
PaxDbiO14521.
PRIDEiO14521.

Expressioni

Gene expression databases

ArrayExpressiO14521.
BgeeiO14521.
CleanExiHS_SDHD.
GenevestigatoriO14521.

Organism-specific databases

HPAiHPA045727.

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

BioGridi112293. 1 interaction.
STRINGi9606.ENSP00000364699.

Structurei

3D structure databases

ProteinModelPortaliO14521.
SMRiO14521. Positions 59-159.

Family & Domainsi

Sequence similaritiesi

Belongs to the CybS family.

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG264646.
HOGENOMiHOG000290645.
HOVERGENiHBG003003.
InParanoidiO14521.
KOiK00237.
OMAiHTGFGNI.
PhylomeDBiO14521.
TreeFamiTF313310.

Family and domain databases

InterProiIPR007992. CybS.
[Graphical view]
PANTHERiPTHR13337. PTHR13337. 1 hit.
PfamiPF05328. CybS. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O14521-1) [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

MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH    50
LSPSHHSGSK AASLHWTSER VVSVLLLGLL PAAYLNPCSA MDYSLAAALT 100
LHGHWGLGQV VTDYVHGDAL QKAAKAGLLA LSALTFAGLC YFNYHDVGIC 150
KAVAMLWKL 159
Length:159
Mass (Da):17,043
Last modified:January 1, 1998 - v1
Checksum:i6B1AA94831C8C3B6
GO
Isoform 2 (identifier: O14521-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     19-57: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.

Show »
Length:120
Mass (Da):12,615
Checksum:i697849862CBB23D2
GO
Isoform 3 (identifier: O14521-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     56-158: HSGSKAASLH...ICKAVAMLWK → HWALDKLLLTMFMGMPCRKLPRQGFWHFQ

Note: No experimental confirmation available. Gene prediction based on EST data.

Show »
Length:85
Mass (Da):9,720
Checksum:i590AF9A98DD8AE76
GO
Isoform 4 (identifier: O14521-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     106-143: GLGQVVTDYV...LTFAGLCYFN → LECNGAILAR...QAILLPQPPK
     144-159: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.

Show »
Length:143
Mass (Da):15,361
Checksum:iE348643A604EDC0F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121G → S Polymorphism that may increase susceptibility for developing pheochromocytoma, paraganglioma, intestinal carcinoid tumor and breast, renal and uterus carcinoma; may be associated with Cowden syndrome; associated with increased manganese superoxide dismutase expression; associated with increased reactive oxygen species; associated with 1.9-fold increase in both AKT and MAPK expression. 7 Publications
Corresponds to variant rs34677591 [ dbSNP | Ensembl ].
VAR_017870
Natural varianti50 – 501H → R Polymorphism that may increase susceptibility for developing paraganglioma, breast and thyroid carcinoma; may be involved in somatic Merkel cell carcinoma; may be associated with Cowden syndrome; associated with increased manganese superoxide dismutase expression; associated with increased reactive oxygen species; associated with a 2.0-fold increase in AKT expression and a 1.7-fold increase in MAPK expression. 4 Publications
Corresponds to variant rs11214077 [ dbSNP | Ensembl ].
VAR_017871
Natural varianti81 – 811P → L in PGL1 and pheochromocytoma. 3 Publications
VAR_010038
Natural varianti92 – 921D → Y in PGL1 and pheochromocytoma. 4 Publications
VAR_010039
Natural varianti93 – 931Missing in PGL1. 1 Publication
VAR_018519
Natural varianti102 – 1021H → L in PGL1. 1 Publication
VAR_010040
Natural varianti114 – 1141Y → C in PGL1. 2 Publications
VAR_017872
Natural varianti139 – 1391L → P in PGL1. 1 Publication
VAR_017873
Natural varianti145 – 1451H → N Found in an individual with features of Cowden syndrome; associated with increased manganese superoxide dismutase expression; associated with normal reactive oxygen species; associated with no change in AKT expression but a 1.2-fold increase of MAPK expression. 1 Publication
Corresponds to variant rs11214077 [ dbSNP | Ensembl ].
VAR_054384
Natural varianti148 – 1481G → V in PGL1. 1 Publication
VAR_054385

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei19 – 5739Missing in isoform 2.
VSP_054744Add
BLAST
Alternative sequencei56 – 158103HSGSK…AMLWK → HWALDKLLLTMFMGMPCRKL PRQGFWHFQ in isoform 3.
VSP_054745Add
BLAST
Alternative sequencei106 – 14338GLGQV…LCYFN → LECNGAILARHDLGSARSQL TATSAFRVQAILLPQPPK in isoform 4.
VSP_054746Add
BLAST
Alternative sequencei144 – 15916Missing in isoform 4.
VSP_054747Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti74 – 741V → F in AAH70307. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB006202 mRNA. Translation: BAA22054.1.
AB026906 Genomic DNA. Translation: BAA81889.1.
AK075360 mRNA. Translation: BAG52120.1.
BT007238 mRNA. Translation: AAP35902.1.
CR456932 mRNA. Translation: CAG33213.1.
AP002007 Genomic DNA. No translation available.
CH471065 Genomic DNA. Translation: EAW67181.1.
BC005263 mRNA. Translation: AAH05263.1.
BC009574 mRNA. Translation: AAH09574.1.
BC012603 mRNA. Translation: AAH12603.1.
BC015188 mRNA. Translation: AAH15188.1.
BC015992 mRNA. Translation: AAH15992.1.
BC022350 mRNA. Translation: AAH22350.1.
BC070307 mRNA. Translation: AAH70307.1.
BC071755 mRNA. Translation: AAH71755.1.
BC071756 mRNA. Translation: AAH71756.1.
CCDSiCCDS31678.1. [O14521-1]
CCDS60958.1. [O14521-4]
CCDS60959.1. [O14521-3]
CCDS60960.1. [O14521-2]
RefSeqiNP_001263432.1. NM_001276503.1. [O14521-3]
NP_001263433.1. NM_001276504.1. [O14521-2]
NP_001263435.1. NM_001276506.1. [O14521-4]
NP_002993.1. NM_003002.3. [O14521-1]
UniGeneiHs.356270.
Hs.744039.

Genome annotation databases

EnsembliENST00000375549; ENSP00000364699; ENSG00000204370.
ENST00000525291; ENSP00000436669; ENSG00000204370.
ENST00000526592; ENSP00000432005; ENSG00000204370.
ENST00000528048; ENSP00000436217; ENSG00000204370.
GeneIDi6392.
KEGGihsa:6392.
UCSCiuc001pmz.4. human. [O14521-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Wikipedia

SDHD entry

TCA Cycle Gene Mutation Database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB006202 mRNA. Translation: BAA22054.1 .
AB026906 Genomic DNA. Translation: BAA81889.1 .
AK075360 mRNA. Translation: BAG52120.1 .
BT007238 mRNA. Translation: AAP35902.1 .
CR456932 mRNA. Translation: CAG33213.1 .
AP002007 Genomic DNA. No translation available.
CH471065 Genomic DNA. Translation: EAW67181.1 .
BC005263 mRNA. Translation: AAH05263.1 .
BC009574 mRNA. Translation: AAH09574.1 .
BC012603 mRNA. Translation: AAH12603.1 .
BC015188 mRNA. Translation: AAH15188.1 .
BC015992 mRNA. Translation: AAH15992.1 .
BC022350 mRNA. Translation: AAH22350.1 .
BC070307 mRNA. Translation: AAH70307.1 .
BC071755 mRNA. Translation: AAH71755.1 .
BC071756 mRNA. Translation: AAH71756.1 .
CCDSi CCDS31678.1. [O14521-1 ]
CCDS60958.1. [O14521-4 ]
CCDS60959.1. [O14521-3 ]
CCDS60960.1. [O14521-2 ]
RefSeqi NP_001263432.1. NM_001276503.1. [O14521-3 ]
NP_001263433.1. NM_001276504.1. [O14521-2 ]
NP_001263435.1. NM_001276506.1. [O14521-4 ]
NP_002993.1. NM_003002.3. [O14521-1 ]
UniGenei Hs.356270.
Hs.744039.

3D structure databases

ProteinModelPortali O14521.
SMRi O14521. Positions 59-159.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112293. 1 interaction.
STRINGi 9606.ENSP00000364699.

Chemistry

DrugBanki DB00139. Succinic acid.

Proteomic databases

MaxQBi O14521.
PaxDbi O14521.
PRIDEi O14521.

Protocols and materials databases

DNASUi 6392.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000375549 ; ENSP00000364699 ; ENSG00000204370 .
ENST00000525291 ; ENSP00000436669 ; ENSG00000204370 .
ENST00000526592 ; ENSP00000432005 ; ENSG00000204370 .
ENST00000528048 ; ENSP00000436217 ; ENSG00000204370 .
GeneIDi 6392.
KEGGi hsa:6392.
UCSCi uc001pmz.4. human. [O14521-1 ]

Organism-specific databases

CTDi 6392.
GeneCardsi GC11P111991.
GeneReviewsi SDHD.
H-InvDB HIX0029526.
HGNCi HGNC:10683. SDHD.
HPAi HPA045727.
MIMi 114900. phenotype.
168000. phenotype.
171300. phenotype.
602690. gene.
606864. phenotype.
615106. phenotype.
neXtProti NX_O14521.
Orphaneti 100093. Carcinoid tumor and carcinoid syndrome.
97286. Carney-Stratakis syndrome.
201. Cowden syndrome.
29072. Hereditary pheochromocytoma-paraganglioma.
3208. Isolated succinate-CoQ reductase deficiency.
PharmGKBi PA35608.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG264646.
HOGENOMi HOG000290645.
HOVERGENi HBG003003.
InParanoidi O14521.
KOi K00237.
OMAi HTGFGNI.
PhylomeDBi O14521.
TreeFami TF313310.

Enzyme and pathway databases

UniPathwayi UPA00223 .
BioCyci MetaCyc:ENSG00000150781-MONOMER.
Reactomei REACT_1785. Citric acid cycle (TCA cycle).
REACT_22393. Respiratory electron transport.

Miscellaneous databases

ChiTaRSi SDHD. human.
GeneWikii SDHD.
GenomeRNAii 6392.
NextBioi 24838.
PROi O14521.
SOURCEi Search...

Gene expression databases

ArrayExpressi O14521.
Bgeei O14521.
CleanExi HS_SDHD.
Genevestigatori O14521.

Family and domain databases

InterProi IPR007992. CybS.
[Graphical view ]
PANTHERi PTHR13337. PTHR13337. 1 hit.
Pfami PF05328. CybS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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.
  2. "Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase."
    Hirawake H., Taniwaki M., Tamura A., Amino H., Tomitsuka E., Kita K.
    Biochim. Biophys. Acta 1412:295-300(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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: Bone marrow, Brain, Lung and Skeletal muscle.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma."
    Gimm O., Armanios M., Dziema H., Neumann H.P.H., Eng C.
    Cancer Res. 60:6822-6825(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PHEOCHROMOCYTOMA LEU-81.
  11. Cited for: VARIANTS PGL1 LEU-81; TYR-92 AND LEU-102.
  12. "Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma."
    Milunsky J.M., Maher T.A., Michels V.V., Milunsky A.
    Am. J. Med. Genet. 100:311-314(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PGL1 CYS-114.
  13. "Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss."
    Badenhop R.F., Cherian S., Lord R.S.A., Baysal B.E., Taschner P.E.M., Schofield P.R.
    Genes Chromosomes Cancer 31:255-263(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PGL1 TYR-93 DEL.
  14. Cited for: VARIANTS PGL1 TYR-92 AND PRO-139.
  15. Cited for: VARIANT SER-12.
  16. "Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas."
    Kytoelae S., Nord B., Elder E.E., Carling T., Kjellman M., Cedermark B., Juhlin C., Hoeoeg A., Isola J., Larsson C.
    Genes Chromosomes Cancer 34:325-332(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN INTESTINAL CARCINOID TUMOR, VARIANTS SER-12 AND ARG-50.
  17. "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 SER-12 AND ARG-50.
  18. Cited for: VARIANT PHEOCHROMOCYTOMA TYR-92.
  19. Cited for: DISCUSSION OF PATHOGENIC ROLE OF VARIANTS SER-12 AND ARG-50.
  20. Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148, VARIANT PHEOCHROMOCYTOMA TYR-92.
  21. "SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism."
    Leube B., Huber R., Goecke T.O., Sandmann W., Royer-Pokora B.
    Clin. Genet. 65:61-63(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-12.
  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 SER-12; ARG-50 AND ASN-145, CHARACTERIZATION OF VARIANTS SER-12; ARG-50 AND ASN-145, INVOLVEMENT IN CWS3.
  24. Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-12.

Entry informationi

Entry nameiDHSD_HUMAN
AccessioniPrimary (citable) accession number: O14521
Secondary accession number(s): A6ND90
, B3KQQ8, E9PIC0, E9PIG3, E9PQI9, Q53XW5, Q6IRW2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 1, 1998
Last modified: September 3, 2014
This is version 157 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 11
    Human chromosome 11: 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

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