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Protein

Succinate dehydrogenase assembly factor 2, mitochondrial

Gene

SDHAF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer.UniRule annotation1 Publication

GO - Biological processi

  • mitochondrial electron transport, succinate to ubiquinone Source: UniProtKB
  • mitochondrial respiratory chain complex II assembly Source: GO_Central
  • negative regulation of canonical Wnt signaling pathway Source: MGI
  • negative regulation of epithelial to mesenchymal transition Source: MGI
  • protein dephosphorylation Source: MGI
  • protein-FAD linkage Source: UniProtKB
  • tricarboxylic acid cycle Source: GO_Central

Keywordsi

Molecular functionChaperone

Enzyme and pathway databases

SIGNORiQ9NX18.

Names & Taxonomyi

Protein namesi
Recommended name:
Succinate dehydrogenase assembly factor 2, mitochondrialUniRule annotation
Short name:
SDH assembly factor 2UniRule annotation
Short name:
SDHAF2UniRule annotation
Gene namesi
Name:SDHAF2UniRule annotation
Synonyms:C11orf79, PGL2UniRule annotation, SDH5UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000167985.6.
HGNCiHGNC:26034. SDHAF2.

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

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Paragangliomas 2 (PGL2)1 Publication
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. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear.
See also OMIM:601650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05870578G → R in PGL2; abolishes interaction with SDHA and flavination of SDHA. 1 PublicationCorresponds to variant dbSNP:rs113560320Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi54949.
GeneReviewsiSDHAF2.
MalaCardsiSDHAF2.
MIMi601650. phenotype.
OpenTargetsiENSG00000167985.
Orphaneti29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKBiPA165543618.

Polymorphism and mutation databases

BioMutaiSDHAF2.
DMDMi74734683.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 29MitochondrionSequence analysisAdd BLAST29
ChainiPRO_000029435730 – 166Succinate dehydrogenase assembly factor 2, mitochondrialAdd BLAST137

Proteomic databases

EPDiQ9NX18.
MaxQBiQ9NX18.
PaxDbiQ9NX18.
PeptideAtlasiQ9NX18.
PRIDEiQ9NX18.
TopDownProteomicsiQ9NX18.

PTM databases

iPTMnetiQ9NX18.
PhosphoSitePlusiQ9NX18.

Expressioni

Gene expression databases

BgeeiENSG00000167985.
CleanExiHS_C11orf79.
ExpressionAtlasiQ9NX18. baseline and differential.
GenevisibleiQ9NX18. HS.

Organism-specific databases

HPAiHPA039464.
HPA039732.

Interactioni

Subunit structurei

Interacts with SDHA within the SDH catalytic dimer.UniRule annotation1 Publication

Protein-protein interaction databases

BioGridi120288. 29 interactors.
DIPiDIP-61728N.
IntActiQ9NX18. 16 interactors.
MINTiMINT-1381599.
STRINGi9606.ENSP00000301761.

Structurei

3D structure databases

ProteinModelPortaliQ9NX18.
SMRiQ9NX18.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SDHAF2 family.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3326. Eukaryota.
COG2938. LUCA.
GeneTreeiENSGT00390000001149.
HOGENOMiHOG000230636.
InParanoidiQ9NX18.
KOiK18168.
OMAiIYYWATD.
OrthoDBiEOG091G0VSZ.
PhylomeDBiQ9NX18.
TreeFamiTF300175.

Family and domain databases

HAMAPiMF_03057. SDHAF2. 1 hit.
InterProiView protein in InterPro
IPR005631. SDH.
IPR028882. SDHAF2.
PfamiView protein in Pfam
PF03937. Sdh5. 1 hit.
SUPFAMiSSF109910. SSF109910. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Q9NX18-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAVSTVFSTS SLMLALSRHS LLSPLLSVTS FRRFYRGDSP TDSQKDMIEI
60 70 80 90 100
PLPPWQERTD ESIETKRARL LYESRKRGML ENCILLSLFA KEHLQHMTEK
110 120 130 140 150
QLNLYDRLIN EPSNDWDIYY WATEAKPAPE IFENEVMALL RDFAKNKNKE
160
QRLRAPDLEY LFEKPR
Length:166
Mass (Da):19,599
Last modified:October 1, 2000 - v1
Checksum:iAB31FD150E1B6ECA
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05870578G → R in PGL2; abolishes interaction with SDHA and flavination of SDHA. 1 PublicationCorresponds to variant dbSNP:rs113560320Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000494 mRNA. Translation: BAA91204.1.
BC002331 mRNA. Translation: AAH02331.1.
CCDSiCCDS8007.1.
RefSeqiNP_060311.1. NM_017841.2.
UniGeneiHs.313247.

Genome annotation databases

EnsembliENST00000301761; ENSP00000301761; ENSG00000167985.
GeneIDi54949.
KEGGihsa:54949.
UCSCiuc001nrt.4. human.

Similar proteinsi

Entry informationi

Entry nameiSDHF2_HUMAN
AccessioniPrimary (citable) accession number: Q9NX18
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: October 1, 2000
Last modified: September 27, 2017
This is version 121 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families