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Protein

Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial

Gene

SDHD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: tricarboxylic acid cycle

This protein is involved in the pathway tricarboxylic acid cycle, which is part of Carbohydrate metabolism.
View all proteins of this organism that are known to be involved in the pathway tricarboxylic acid cycle and in Carbohydrate metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi102Iron (heme axial ligand); shared with SDHCBy similarity1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei114Ubiquinone; shared with IP/SDHBBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • electron transfer activity Source: UniProtKB
  • heme binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • succinate dehydrogenase activity Source: UniProtKB
  • ubiquinone binding Source: UniProtKB

GO - Biological processi

  • mitochondrial electron transport, succinate to ubiquinone Source: GO_Central
  • tricarboxylic acid cycle Source: UniProtKB

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processElectron transport, Transport, Tricarboxylic acid cycle
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:ENSG00000150781-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-611105 Respiratory electron transport
R-HSA-71403 Citric acid cycle (TCA cycle)

SIGNOR Signaling Network Open Resource

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SIGNORi
O14521

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00223

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SDHD
Synonyms:SDH4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000204370.8

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10683 SDHD

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602690 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O14521

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini57 – 63Mitochondrial matrixBy similarity7
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei64 – 85HelicalBy similarityAdd BLAST22
Topological domaini86 – 90Mitochondrial intermembraneBy similarity5
Transmembranei91 – 111HelicalBy similarityAdd BLAST21
Topological domaini112 – 120Mitochondrial matrixBy similarity9
Transmembranei121 – 142HelicalBy similarityAdd BLAST22
Topological domaini143 – 159Mitochondrial intermembraneBy similarityAdd BLAST17

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Paragangliomas 1 (PGL1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:168000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01003881P → L in PGL1 and pheochromocytoma. 3 PublicationsCorresponds to variant dbSNP:rs80338844EnsemblClinVar.1
Natural variantiVAR_01003992D → Y in PGL1 and pheochromocytoma. 4 PublicationsCorresponds to variant dbSNP:rs80338845EnsemblClinVar.1
Natural variantiVAR_01851993Missing in PGL1. 1 Publication1
Natural variantiVAR_010040102H → L in PGL1. 1 PublicationCorresponds to variant dbSNP:rs104894302EnsemblClinVar.1
Natural variantiVAR_017872114Y → C in PGL1. 2 PublicationsCorresponds to variant dbSNP:rs104894304EnsemblClinVar.1
Natural variantiVAR_017873139L → P in PGL1. 1 PublicationCorresponds to variant dbSNP:rs80338847EnsemblClinVar.1
Natural variantiVAR_054385148G → V in PGL1. 1 Publication1
Pheochromocytoma (PCC)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:171300
Paraganglioma and gastric stromal sarcoma (PGGSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionGastrointestinal 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.
See also OMIM:606864
Mitochondrial complex II deficiency (MT-C2D)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome.
See also OMIM:252011
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07410569E → K in MT-C2D; results in impaired mitochondrial complex II assembly; results in impaired cellular respiration. 1 PublicationCorresponds to variant dbSNP:rs202198133EnsemblClinVar.1
Natural variantiVAR_07410692D → G in MT-C2D; results in highly reduced protein expression; results in impaired cellular respiration. 1 PublicationCorresponds to variant dbSNP:rs786205436EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
6392

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SDHD

MalaCards human disease database

More...
MalaCardsi
SDHD
MIMi168000 phenotype
171300 phenotype
252011 phenotype
606864 phenotype

Open Targets

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OpenTargetsi
ENSG00000204370

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
100093 Carcinoid syndrome
97286 Carney-Stratakis syndrome
201 Cowden syndrome
29072 Hereditary pheochromocytoma-paraganglioma
3208 Isolated succinate-CoQ reductase deficiency
276624 Sporadic pheochromocytoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA35608

Chemistry databases

Drug and drug target database

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DrugBanki
DB00756 Hexachlorophene
DB00139 Succinic acid
DB08689 UBIQUINONE-1

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SDHD

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 56MitochondrionSequence analysisAdd BLAST56
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000648757 – 159Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrialAdd BLAST103

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O14521

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O14521

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O14521

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O14521

PeptideAtlas

More...
PeptideAtlasi
O14521

PRoteomics IDEntifications database

More...
PRIDEi
O14521

ProteomicsDB human proteome resource

More...
ProteomicsDBi
48064

Consortium for Top Down Proteomics

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TopDownProteomicsi
O14521-1 [O14521-1]

PTM databases

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O14521

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000204370 Expressed in 230 organ(s), highest expression level in jejunal mucosa

CleanEx database of gene expression profiles

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CleanExi
HS_SDHD

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O14521 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O14521 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA045727

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112293, 11 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-561 Mitochondrial respiratory chain complex II

Protein interaction database and analysis system

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IntActi
O14521, 4 interactors

Molecular INTeraction database

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MINTi
O14521

STRING: functional protein association networks

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STRINGi
9606.ENSP00000364699

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O14521

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O14521

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CybS family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4097 Eukaryota
ENOG4111RTW LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000010003

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000290645

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG003003

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O14521

KEGG Orthology (KO)

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KOi
K00237

Identification of Orthologs from Complete Genome Data

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OMAi
KLERLWA

Database of Orthologous Groups

More...
OrthoDBi
872445at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O14521

TreeFam database of animal gene trees

More...
TreeFami
TF313310

Family and domain databases

Conserved Domains Database

More...
CDDi
cd03496 SQR_TypeC_CybS, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1300.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR007992 CybS
IPR034804 SQR/QFR_C/D

The PANTHER Classification System

More...
PANTHERi
PTHR13337 PTHR13337, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF81343 SSF81343, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH
60 70 80 90 100
LSPSHHSGSK AASLHWTSER VVSVLLLGLL PAAYLNPCSA MDYSLAAALT
110 120 130 140 150
LHGHWGLGQV VTDYVHGDAL QKAAKAGLLA LSALTFAGLC YFNYHDVGIC

KAVAMLWKL
Length:159
Mass (Da):17,043
Last modified:January 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PK73E9PK73_HUMAN
Succinate dehydrogenase [ubiquinone...
SDHD
131Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V173G3V173_HUMAN
Succinate dehydrogenase [ubiquinone...
SDHD hCG_2032955
104Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YD96H0YD96_HUMAN
Succinate dehydrogenase [ubiquinone...
SDHD
55Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YD41H0YD41_HUMAN
Succinate dehydrogenase [ubiquinone...
SDHD
101Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PNY0A0A1W2PNY0_HUMAN
Succinate dehydrogenase [ubiquinone...
SDHD
72Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti74V → F in AAH70307 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01787012G → S Polymorphism that may increase susceptibility for developing pheochromocytoma, paraganglioma, intestinal carcinoid tumor and breast, renal and uterus carcinoma; 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 PublicationsCorresponds to variant dbSNP:rs34677591EnsemblClinVar.1
Natural variantiVAR_01787150H → R Polymorphism that may increase susceptibility for developing paraganglioma, breast and thyroid carcinoma; may be involved in somatic Merkel cell carcinoma; 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 PublicationsCorresponds to variant dbSNP:rs11214077EnsemblClinVar.1
Natural variantiVAR_07410569E → K in MT-C2D; results in impaired mitochondrial complex II assembly; results in impaired cellular respiration. 1 PublicationCorresponds to variant dbSNP:rs202198133EnsemblClinVar.1
Natural variantiVAR_01003881P → L in PGL1 and pheochromocytoma. 3 PublicationsCorresponds to variant dbSNP:rs80338844EnsemblClinVar.1
Natural variantiVAR_07410692D → G in MT-C2D; results in highly reduced protein expression; results in impaired cellular respiration. 1 PublicationCorresponds to variant dbSNP:rs786205436EnsemblClinVar.1
Natural variantiVAR_01003992D → Y in PGL1 and pheochromocytoma. 4 PublicationsCorresponds to variant dbSNP:rs80338845EnsemblClinVar.1
Natural variantiVAR_01851993Missing in PGL1. 1 Publication1
Natural variantiVAR_010040102H → L in PGL1. 1 PublicationCorresponds to variant dbSNP:rs104894302EnsemblClinVar.1
Natural variantiVAR_017872114Y → C in PGL1. 2 PublicationsCorresponds to variant dbSNP:rs104894304EnsemblClinVar.1
Natural variantiVAR_017873139L → P in PGL1. 1 PublicationCorresponds to variant dbSNP:rs80338847EnsemblClinVar.1
Natural variantiVAR_054384145H → N Found in an individual with features of Cowden syndrome; unknown pathological significance; 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 PublicationCorresponds to variant dbSNP:rs121908984EnsemblClinVar.1
Natural variantiVAR_054385148G → V in PGL1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05474419 – 57Missing in isoform 2. CuratedAdd BLAST39
Alternative sequenceiVSP_05474556 – 158HSGSK…AMLWK → HWALDKLLLTMFMGMPCRKL PRQGFWHFQ in isoform 3. CuratedAdd BLAST103
Alternative sequenceiVSP_054746106 – 143GLGQV…LCYFN → LECNGAILARHDLGSARSQL TATSAFRVQAILLPQPPK in isoform 4. CuratedAdd BLAST38
Alternative sequenceiVSP_054747144 – 159Missing in isoform 4. CuratedAdd BLAST16

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS31678.1 [O14521-1]
CCDS60958.1 [O14521-4]
CCDS60959.1 [O14521-3]
CCDS60960.1 [O14521-2]

NCBI Reference Sequences

More...
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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.356270
Hs.744039

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000375549; ENSP00000364699; ENSG00000204370 [O14521-1]
ENST00000525291; ENSP00000436669; ENSG00000204370 [O14521-2]
ENST00000526592; ENSP00000432005; ENSG00000204370 [O14521-4]
ENST00000528048; ENSP00000436217; ENSG00000204370 [O14521-3]
ENST00000614349; ENSP00000480666; ENSG00000204370 [O14521-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6392

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6392

UCSC genome browser

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UCSCi
uc001pmz.5 human [O14521-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliO14521
SMRiO14521
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112293, 11 interactors
ComplexPortaliCPX-561 Mitochondrial respiratory chain complex II
IntActiO14521, 4 interactors
MINTiO14521
STRINGi9606.ENSP00000364699

Chemistry databases

DrugBankiDB00756 Hexachlorophene
DB00139 Succinic acid
DB08689 UBIQUINONE-1

PTM databases

SwissPalmiO14521

Polymorphism and mutation databases

BioMutaiSDHD

Proteomic databases

EPDiO14521
jPOSTiO14521
MaxQBiO14521
PaxDbiO14521
PeptideAtlasiO14521
PRIDEiO14521
ProteomicsDBi48064
TopDownProteomicsiO14521-1 [O14521-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6392
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375549; ENSP00000364699; ENSG00000204370 [O14521-1]
ENST00000525291; ENSP00000436669; ENSG00000204370 [O14521-2]
ENST00000526592; ENSP00000432005; ENSG00000204370 [O14521-4]
ENST00000528048; ENSP00000436217; ENSG00000204370 [O14521-3]
ENST00000614349; ENSP00000480666; ENSG00000204370 [O14521-4]
GeneIDi6392
KEGGihsa:6392
UCSCiuc001pmz.5 human [O14521-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6392
DisGeNETi6392
EuPathDBiHostDB:ENSG00000204370.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SDHD
GeneReviewsiSDHD

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0029526
HGNCiHGNC:10683 SDHD
HPAiHPA045727
MalaCardsiSDHD
MIMi168000 phenotype
171300 phenotype
252011 phenotype
602690 gene
606864 phenotype
neXtProtiNX_O14521
OpenTargetsiENSG00000204370
Orphaneti100093 Carcinoid syndrome
97286 Carney-Stratakis syndrome
201 Cowden syndrome
29072 Hereditary pheochromocytoma-paraganglioma
3208 Isolated succinate-CoQ reductase deficiency
276624 Sporadic pheochromocytoma
PharmGKBiPA35608

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4097 Eukaryota
ENOG4111RTW LUCA
GeneTreeiENSGT00390000010003
HOGENOMiHOG000290645
HOVERGENiHBG003003
InParanoidiO14521
KOiK00237
OMAiKLERLWA
OrthoDBi872445at2759
PhylomeDBiO14521
TreeFamiTF313310

Enzyme and pathway databases

UniPathwayi
UPA00223

BioCyciMetaCyc:ENSG00000150781-MONOMER
ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-71403 Citric acid cycle (TCA cycle)
SIGNORiO14521

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SDHD human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SDHD

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6392

Protein Ontology

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PROi
PR:O14521

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000204370 Expressed in 230 organ(s), highest expression level in jejunal mucosa
CleanExiHS_SDHD
ExpressionAtlasiO14521 baseline and differential
GenevisibleiO14521 HS

Family and domain databases

CDDicd03496 SQR_TypeC_CybS, 1 hit
Gene3Di1.20.1300.10, 1 hit
InterProiView protein in InterPro
IPR007992 CybS
IPR034804 SQR/QFR_C/D
PANTHERiPTHR13337 PTHR13337, 1 hit
SUPFAMiSSF81343 SSF81343, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDHSD_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O14521
Secondary accession number(s): A6ND90
, B3KQQ8, E9PIC0, E9PIG3, E9PQI9, Q53XW5, Q6IRW2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 1, 1998
Last modified: January 16, 2019
This is version 195 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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