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Q9NX18 (SDHF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Succinate dehydrogenase assembly factor 2, mitochondrial

Short name=SDH assembly factor 2
Alternative name(s):
Succinate dehydrogenase subunit 5, mitochondrial
Short name=hSDH5
Gene names
Name:SDHAF2
Synonyms:C11orf79, PGL2, SDH5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length166 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for insertion of FAD cofactor into SDHA, the catalytic subunit of succinate dehydrogenase (SDH). SDH is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). In is unclear whether it participates in the chemistry of FAD attachment (enzymatic function) or acts as a chaperone that maintains SDHA in a conformation that is susceptible to autocatalytic FAD attachment. Ref.3

Subunit structure

Interacts with SDHA. Ref.3

Subcellular location

Mitochondrion Ref.3.

Involvement in disease

Paragangliomas 2 (PGL2) [MIM:601650]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Belongs to the SDHAF2 family.

Ontologies

Keywords
   Cellular componentMitochondrion
   DiseaseDisease mutation
   DomainTransit peptide
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmitochondrial electron transport, succinate to ubiquinone

Inferred from mutant phenotype Ref.3. Source: UniProtKB

protein-FAD linkage

Inferred from mutant phenotype Ref.3. Source: UniProtKB

   Cellular_componentmitochondrion

Inferred from direct assay Ref.3. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 2929Mitochondrion Potential
Chain30 – 166137Succinate dehydrogenase assembly factor 2, mitochondrial HAMAP-Rule MF_03057
PRO_0000294357

Natural variations

Natural variant781G → R in PGL2; abolishes interaction with SDHA and flavination of SDHA. Ref.3
VAR_058705

Sequences

Sequence LengthMass (Da)Tools
Q9NX18 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: AB31FD150E1B6ECA

FASTA16619,599
        10         20         30         40         50         60 
MAVSTVFSTS SLMLALSRHS LLSPLLSVTS FRRFYRGDSP TDSQKDMIEI PLPPWQERTD 

        70         80         90        100        110        120 
ESIETKRARL LYESRKRGML ENCILLSLFA KEHLQHMTEK QLNLYDRLIN EPSNDWDIYY 

       130        140        150        160 
WATEAKPAPE IFENEVMALL RDFAKNKNKE QRLRAPDLEY LFEKPR 

« Hide

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]"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].
Tissue: Lung.
[3]"SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma."
Hao H.-X., Khalimonchuk O., Schraders M., Dephoure N., Bayley J.-P., Kunst H., Devilee P., Cremers C.W.R.J., Schiffman J.D., Bentz B.G., Gygi S.P., Winge D.R., Kremer H., Rutter J.
Science 325:1139-1142(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PGL2 ARG-78, CHARACTERIZATION OF VARIANT PGL2 ARG-78, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SDHA.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK000494 mRNA. Translation: BAA91204.1.
BC002331 mRNA. Translation: AAH02331.1.
RefSeqNP_060311.1. NM_017841.2.
UniGeneHs.313247.

3D structure databases

ProteinModelPortalQ9NX18.
SMRQ9NX18. Positions 57-150.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120288. 18 interactions.
IntActQ9NX18. 4 interactions.
MINTMINT-1381599.
STRING9606.ENSP00000301761.

PTM databases

PhosphoSiteQ9NX18.

Polymorphism databases

DMDM74734683.

Proteomic databases

PaxDbQ9NX18.
PRIDEQ9NX18.

Protocols and materials databases

DNASU54949.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000301761; ENSP00000301761; ENSG00000167985.
GeneID54949.
KEGGhsa:54949.
UCSCuc001nrt.3. human.

Organism-specific databases

CTD54949.
GeneCardsGC11P061198.
HGNCHGNC:26034. SDHAF2.
HPAHPA039464.
HPA039732.
MIM601650. phenotype.
613019. gene.
neXtProtNX_Q9NX18.
Orphanet29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKBPA165543618.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2938.
HOGENOMHOG000230636.
InParanoidQ9NX18.
OMAYLFEKPH.
PhylomeDBQ9NX18.
TreeFamTF300175.

Gene expression databases

ArrayExpressQ9NX18.
BgeeQ9NX18.
CleanExHS_C11orf79.
GenevestigatorQ9NX18.

Family and domain databases

Gene3D1.10.150.250. 1 hit.
HAMAPMF_03057. SDHAF2.
InterProIPR005631. SDH.
IPR028882. SDHAF2.
[Graphical view]
PfamPF03937. Sdh5. 1 hit.
[Graphical view]
SUPFAMSSF109910. SSF109910. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi54949.
NextBio58119.
PROQ9NX18.
SOURCESearch...

Entry information

Entry nameSDHF2_HUMAN
AccessionPrimary (citable) accession number: Q9NX18
Entry history
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 92 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM