CybS
Succinate-ubiquinone reductase membrane anchor subunit
QPs3
CII-4
Succinate dehydrogenase complex subunit D
Succinate-ubiquinone oxidoreductase cytochrome b small subunit

Gene name

	Name:	SDHD
	Synonyms:	SDH4

From

Homo sapiens (Human)

[TaxID: 9606]

Taxonomy

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Protein existence

1: Evidence at protein level;

References

[1]	NUCLEOTIDE SEQUENCE [MRNA]. TISSUE=Liver; PubMed=9533030 [NCBI, ExPASy, EBI, Israel, Japan] Hirawake H., Taniwaki M., Tamura A., Kojima S., Kita K.; "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."; Cytogenet. Cell Genet. 79:132-138(1997).
[2]	NUCLEOTIDE SEQUENCE [GENOMIC DNA]. DOI=10.1016/S0005-2728(99)00071-7; PubMed=10482792 [NCBI, ExPASy, EBI, Israel, Japan] Hirawake H., Taniwaki M., Tamura A., Amino H., Tomitsuka E., Kita K.; "Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase."; Biochim. Biophys. Acta 1412:295-300(1999).
[3]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. DOI=10.1093/dnares/12.2.117; PubMed=16303743 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."; DNA Res. 12:117-126(2005).
[4]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. 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.; "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."; Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
[5]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.; "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."; Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
[6]	NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. DOI=10.1038/nature04632; PubMed=16554811 [NCBI, ExPASy, EBI, Israel, Japan] Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.; "Human chromosome 11 DNA sequence and analysis including novel gene identification."; Nature 440:497-500(2006).
[7]	NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.; Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[8]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. TISSUE=Bone marrow, Brain, Lung, and Skeletal muscle; DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[9]	IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY. Colinge J., Superti-Furga G., Bennett K.L.; Submitted (OCT-2008) to UniProtKB.
[10]	VARIANT PHEOCHROMOCYTOMA LEU-81. PubMed=11156372 [NCBI, ExPASy, EBI, Israel, Japan] Gimm O., Armanios M., Dziema H., Neumann H.P.H., Eng C.; "Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma."; Cancer Res. 60:6822-6825(2000).
[11]	VARIANTS PGL1 LEU-81; TYR-92 AND LEU-102. DOI=10.1126/science.287.5454.848; PubMed=10657297 [NCBI, ExPASy, EBI, Israel, Japan] Baysal B.E., Ferrell R.E., Willett-Brozick J.E., Lawrence E.C., Myssiorek D., Bosch A., van der Mey A., Taschner P.E.M., Rubinstein W.S., Myers E.N., Richard C.W. III, Cornelisse C.J., Devilee P., Devlin B.; "Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma."; Science 287:848-851(2000).
[12]	VARIANT PGL1 CYS-114. DOI=10.1002/ajmg.1270; PubMed=11343322 [NCBI, ExPASy, EBI, Israel, Japan] Milunsky J.M., Maher T.A., Michels V.V., Milunsky A.; "Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma."; Am. J. Med. Genet. 100:311-314(2001).
[13]	VARIANT PGL1 TYR-93 DEL. DOI=10.1002/gcc.1142; PubMed=11391796 [NCBI, ExPASy, EBI, Israel, Japan] Badenhop R.F., Cherian S., Lord R.S.A., Baysal B.E., Taschner P.E.M., Schofield P.R.; "Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss."; Genes Chromosomes Cancer 31:255-263(2001).
[14]	VARIANTS PGL1 TYR-92 AND PRO-139. DOI=10.1002/gcc.1144; PubMed=11391798 [NCBI, ExPASy, EBI, Israel, Japan] Taschner P.E.M., Jansen J.C., Baysal B.E., Bosch A., Rosenberg E.H., Broecker-Vriends A.H.J.T., van Der Mey A.G.L., van Ommen G.-J.B., Cornelisse C.J., Devilee P.; "Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene."; Genes Chromosomes Cancer 31:274-281(2001).
[15]	VARIANT SER-12. DOI=10.1038/sj.onc.1204579; PubMed=11526495 [NCBI, ExPASy, EBI, Israel, Japan] Masuoka J., Brandner S., Paulus W., Soffer D., Vital A., Chimelli L., Jouvet A., Yonekawa Y., Kleihues P., Ohgaki H.; "Germline SDHD mutation in paraganglioma of the spinal cord."; Oncogene 20:5084-5086(2001).
[16]	INVOLVEMENT IN INTESTINAL CARCINOID TUMOR, AND VARIANTS SER-12 AND ARG-50. DOI=10.1002/gcc.10081; PubMed=12007193 [NCBI, ExPASy, EBI, Israel, Japan] Kytoelae S., Nord B., Elder E.E., Carling T., Kjellman M., Cedermark B., Juhlin C., Hoeoeg A., Isola J., Larsson C.; "Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas."; Genes Chromosomes Cancer 34:325-332(2002).
[17]	VARIANTS SER-12 AND ARG-50. PubMed=14500403 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas."; Cancer Res. 63:5615-5621(2003).
[18]	VARIANT PHEOCHROMOCYTOMA TYR-92. DOI=10.1056/NEJMoa020152; PubMed=12000816 [NCBI, ExPASy, EBI, Israel, Japan] The Freiburg-Warsaw-Columbus pheochromocytoma study group; Neumann H.P.H., Bausch B., McWhinney S.R., Bender B.U., Gimm O., Franke G., Schipper J., Klisch J., Altehoefer C., Zerres K., Januszewicz A., Smith W.M., Munk R., Manz T., Glaesker S., Apel T.W., Treier M., Reineke M., Walz M.K., Hoang-Vu C., Brauckhoff M., Klein-Franke A., Klose P., Schmidt H., Maier-Woelfle M., Peczkowska M., Szmigielski C., Eng C.; "Germ-line mutations in nonsyndromic pheochromocytoma."; N. Engl. J. Med. 346:1459-1466(2002).
[19]	DISCUSSION OF PATHOGENIC ROLE OF VARIANTS SER-12 AND ARG-50. DOI=10.1002/gcc.10212; PubMed=12696072 [NCBI, ExPASy, EBI, Israel, Japan] Cascon A., Ruiz-Llorente S., Cebrian A., Leton R., Telleria D., Benitez J., Robledo M.; "G12S and H50R variations are polymorphisms in the SDHD gene."; Genes Chromosomes Cancer 37:220-221(2003).
[20]	VARIANTS PLG1 LEU-81; CYS-114 AND VAL-148, AND VARIANT PHEOCHROMOCYTOMA TYR-92. DOI=10.1001/jama.292.8.943; PubMed=15328326 [NCBI, ExPASy, EBI, Israel, Japan] Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C.; "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations."; JAMA 292:943-951(2004).
[21]	ERRATUM. Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C.; JAMA 292:1686-1686(2004).
[22]	VARIANT SER-12. DOI=10.1111/j..2004.00174.x; PubMed=15032977 [NCBI, ExPASy, EBI, Israel, Japan] Leube B., Huber R., Goecke T.O., Sandmann W., Royer-Pokora B.; "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."; Clin. Genet. 65:61-63(2004).
[23]	INVOLVEMENT IN PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA. DOI=10.1056/NEJMc071191; PubMed=17804857 [NCBI, ExPASy, EBI, Israel, Japan] McWhinney S.R., Pasini B., Stratakis C.A.; "Familial gastrointestinal stromal tumors and germ-line mutations."; N. Engl. J. Med. 357:1054-1056(2007).
[24]	VARIANTS SER-12; ARG-50 AND ASN-145, CHARACTERIZATION OF VARIANTS SER-12; ARG-50 AND ASN-145, AND INVOLVEMENT IN COWDEN-LIKE DISEASE. DOI=10.1016/j.ajhg.2008.07.011; PubMed=18678321 [NCBI, ExPASy, EBI, Israel, Japan] Ni Y., Zbuk K.M., Sadler T., Patocs A., Lobo G., Edelman E., Platzer P., Orloff M.S., Waite K.A., Eng C.; "Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes."; Am. J. Hum. Genet. 83:261-268(2008).
[25]	VARIANT [LARGE SCALE ANALYSIS] SER-12. DOI=10.1038/nature07485; PubMed=18987736 [NCBI, ExPASy, EBI, Israel, Japan] Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S., Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., DiPersio J.F., Wilson R.K.; "DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."; Nature 456:66-72(2008).

Comments

FUNCTION: 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).
PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle .
SUBUNIT: 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.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
DISEASE: Defects in SDHD are a cause of hereditary paraganglioma type 1 (PGL1) [MIM:168000]; also known as familial non-chromaffin paraganglioma 1. Paraganglioma refers to rare and mostly benign tumors that arise from any component of the neuroendocrine system. 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. Penetrance of PLG1 is incomplete when the disease is transmitted through fathers. No disease phenotype is transmitted maternally.
DISEASE: Defects in SDHD are a cause of pheochromocytoma [MIM:171300]. The pheochromocytomas are catecholamine-producing, chromaffin tumors that arise in the adrenal medulla in 90% of cases. In the remaining 10% of cases, they develop in extra-adrenal sympathetic ganglia and may be referred to as "paraganglioma." Pheochromocytoma usually presents with hypertension. Approximately 10% of pheochromocytoma is hereditary. Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1 and in the proto-oncogene RET, the genetic basis for most cases of non-syndromic familial pheochromocytoma is unknown.
DISEASE: Defects in SDHD are involved in intestinal carcinoid tumor [MIM:114900]. A carcinoid tumor is a yellow circumscribed tumor arising from enterochromaffin cells, in the small intestine.
DISEASE: Defects in SDHD are a cause of paraganglioma and gastric stromal sarcoma [MIM:606864]; also called Carney-Stratakis syndrome. 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.
DISEASE: Defects in SDHD are a cause of Cowden-like syndrome [MIM:612359]. Cowden-like syndrome is a cancer predisposition syndrome associated with elevated risk for tumors of the breast, thyroid, kidney and uterus.
SIMILARITY: Belongs to the CybS family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SDHDID390.html";.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=SDHD";.
WEB RESOURCE: Name=Wikipedia; Note=SDHD entry; URL="http://en.wikipedia.org/wiki/SDHD";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

AB006202; BAA22054.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AB026906; BAA81889.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AK075360; BAG52120.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BT007238; AAP35902.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
CR456932; CAG33213.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AP002007; -; NOT_ANNOTATED_CDS; Genomic_DNA.	[EMBL / GenBank / DDBJ]
CH471065; EAW67181.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC005263; AAH05263.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC009574; AAH09574.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC012603; AAH12603.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC015188; AAH15188.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC015992; AAH15992.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC022350; AAH22350.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC070307; AAH70307.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC071755; AAH71755.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC071756; AAH71756.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI00297325; -.

NP_002993.1; -.

3D structure databases

SMR

O14521; 59-159.

ModBase

O14521.

Enzyme and pathway databases

Reactome

REACT_6305; Electron Transport Chain.

Organism-specific databases

GeneCards

GC11P111462; -.
GC11P111463; -.

H-InvDB

HIX0010122; -.
HIX0029526; -.
HIX0057022; -.

HGNC:10683; SDHD.

114900; phenotype. [NCBI / EBI]
168000; phenotype. [NCBI / EBI]
171300; phenotype. [NCBI / EBI]
602690; gene. [NCBI / EBI]
606864; phenotype. [NCBI / EBI]
612359; phenotype. [NCBI / EBI]

Orphanet

97286; Carney-Stratakis syndrome.
201; Cowden syndrome.
877; Endocrine tumor.
29072; Hereditary pheochromocytoma-paraganglioma syndrome.
717; Pheochromocytoma and secreting paraganglioma.

PharmGKB

PA35608; -.

Gene expression databases

Bgee

O14521; -.

CleanEx

HS_SDHD; -.

GermOnline

ENSG00000204370; Homo sapiens.

Ontologies

GO:0016021;	Cellular component: integral to membrane (inferred from electronic annotation from UniProtKB-KW).
GO:0005743;	Cellular component: mitochondrial inner membrane (inferred from direct assay from UniProtKB).
GO:0009055;	Molecular function: electron carrier activity (traceable author statement from UniProtKB).
GO:0020037;	Molecular function: heme binding (inferred from electronic annotation from InterPro).
GO:0000104;	Molecular function: succinate dehydrogenase activity (inferred from direct assay from UniProtKB).
GO:0022900;	Biological process: electron transport chain (inferred from electronic annotation from UniProtKB-KW).
GO:0006810;	Biological process: transport (inferred from electronic annotation from UniProtKB-KW).
GO:0006099;	Biological process: tricarboxylic acid cycle (inferred from direct assay from UniProtKB).
QuickGo view.

Family and domain databases

InterPro

IPR007992; Cyt_b_succ_DH_CybS.
Graphical view of domain structure.

PANTHER

PTHR13337; CybS; 1.

Pfam

PF05328; CybS; 1.
Pfam graphical view of domain structure.

Proteomic databases

PRIDE

O14521; -.

Genome annotation databases

Ensembl

ENSG00000204370; Homo sapiens. [Contig view]

GeneID

6392; -.

KEGG

hsa:6392; -.

Phylogenomic databases

HOGENOM

O14521; -.

HOVERGEN

O14521; -.

OMA

O14521; HWGLGQV.

Other

DrugBank

DB00139; Succinic acid.

24838; -.

SDHD; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Disease mutation; Electron transport; Heme; Iron; Membrane; Metal-binding; Mitochondrion; Mitochondrion inner membrane; Polymorphism; Transit peptide; Transmembrane; Transport; Tricarboxylic acid cycle.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`TRANSIT`	`1 56`	`56`	`Mitochondrion (Potential).`
`CHAIN`	`57 159`	`103`	`Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial.`	`PRO_0000006487`
`TOPO_DOM`	`57 63`	`7`	`Mitochondrial matrix (By similarity).`
`TRANSMEM`	`64 85`	`22`	`By similarity.`
`TOPO_DOM`	`86 90`	`5`	`Mitochondrial intermembrane (By similarity).`
`TRANSMEM`	`91 111`	`21`	`By similarity.`
`TOPO_DOM`	`112 120`	`9`	`Mitochondrial matrix (By similarity).`
`TRANSMEM`	`121 142`	`22`	`By similarity.`
`TOPO_DOM`	`143 159`	`17`	`Mitochondrial intermembrane (By similarity).`
`METAL`	`102 102`		`Iron (heme axial ligand); shared with SDHC (By similarity).`
`BINDING`	`114 114`		`Ubiquinone; shared with IP/SDHB (By similarity).`
`VARIANT`	`12 12`	`1`	`G -> S (polymorphism that may increase susceptibility for developing pheochromocytoma, paraganglioma, intestinal carcinoid tumor and breast, renal and uterus carcinoma; associated with features of Cowden-like 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; dbSNP:rs34677591 [NCBI]).`	`VAR_017870`
`VARIANT`	`50 50`	`1`	`H -> R (polymorphism that may increase susceptibility for developing paraganglioma, breast and tyroid carcinoma; may be involved in somatic Merkel cell carcinoma; associated with features of Cowden-like 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; dbSNP:rs11214077 [NCBI]).`	`VAR_017871`
`VARIANT`	`81 81`	`1`	`P -> L (in PGL1 and pheochromocytoma).`	`VAR_010038 [3D]`
`VARIANT`	`92 92`	`1`	`D -> Y (in PGL1 and pheochromocytoma).`	`VAR_010039 [3D]`
`VARIANT`	`93 93`	`1`	`Missing (in PGL1).`	`VAR_018519`
`VARIANT`	`102 102`	`1`	`H -> L (in PGL1).`	`VAR_010040 [3D]`
`VARIANT`	`114 114`	`1`	`Y -> C (in PGL1).`	`VAR_017872 [3D]`
`VARIANT`	`139 139`	`1`	`L -> P (in PGL1).`	`VAR_017873 [3D]`
`VARIANT`	`145 145`	`1`	`H -> N (found in an individual with features of Cowden-like syndrome; associated with increased manganese superoxide dismutase expression; asociated with normal reactive oxygen species; associated with no change in AKT expression but a 1.2-fold increase of MAPK expression).`	`VAR_054384 [3D]`
`VARIANT`	`148 148`	`1`	`G -> V (in PLG1).`	`VAR_054385 [3D]`
`CONFLICT`	`74 74`		`V -> F (in Ref. 8; AAH70307).`

Sequence information

Length: 159 AA [This is the length of the unprocessed precursor]

Molecular weight: 17043 Da [This is the MW of the unprocessed precursor]

CRC64: 6B1AA94831C8C3B6 [This is a checksum on the sequence]

        10         20         30         40         50         60 
MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH LSPSHHSGSK 

        70         80         90        100        110        120 
AASLHWTSER VVSVLLLGLL PAAYLNPCSA MDYSLAAALT LHGHWGLGQV VTDYVHGDAL 

       130        140        150 
QKAAKAGLLA LSALTFAGLC YFNYHDVGIC KAVAMLWKL

O14521 in FASTA format

View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools