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Protein

Succinate dehydrogenase assembly factor 2, mitochondrial

Gene

SDHAF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi613019 gene
neXtProtiNX_Q9NX18

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

Binary interactionsi

WithEntry#Exp.IntActNotes
SDHAP310402EBI-713250,EBI-1057265

Protein-protein interaction databases

BioGridi12028830 interactors.
DIPiDIP-61728N
IntActiQ9NX18 16 interactors.
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

Gene3Di1.10.150.2501 hit
HAMAPiMF_03057 SDHAF2, 1 hit
InterProiView protein in InterPro
IPR005631 SDH
IPR036714 SDH_sf
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: March 28, 2018
This is version 124 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