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Q9NX18

- SDHF2_HUMAN

UniProt

Q9NX18 - SDHF2_HUMAN

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Protein

Succinate dehydrogenase assembly factor 2, mitochondrial

Gene

SDHAF2

Organism
Homo sapiens (Human)
Status
Reviewed - 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.1 PublicationUniRule annotation

GO - Biological processi

  1. mitochondrial electron transport, succinate to ubiquinone Source: UniProtKB
  2. negative regulation of canonical Wnt signaling pathway Source: MGI
  3. negative regulation of epithelial to mesenchymal transition Source: MGI
  4. protein dephosphorylation Source: MGI
  5. protein-FAD linkage Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:26034. SDHAF2.

Subcellular locationi

Mitochondrion matrix 1 PublicationUniRule annotation

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781G → R in PGL2; abolishes interaction with SDHA and flavination of SDHA. 1 Publication
VAR_058705

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi601650. phenotype.
Orphaneti29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKBiPA165543618.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2929MitochondrionSequence AnalysisAdd
BLAST
Chaini30 – 166137Succinate dehydrogenase assembly factor 2, mitochondrialPRO_0000294357Add
BLAST

Proteomic databases

MaxQBiQ9NX18.
PaxDbiQ9NX18.
PRIDEiQ9NX18.

PTM databases

PhosphoSiteiQ9NX18.

Expressioni

Gene expression databases

BgeeiQ9NX18.
CleanExiHS_C11orf79.
ExpressionAtlasiQ9NX18. baseline and differential.
GenevestigatoriQ9NX18.

Organism-specific databases

HPAiHPA039464.
HPA039732.

Interactioni

Subunit structurei

Interacts with SDHA within the SDH catalytic dimer.1 PublicationUniRule annotation

Protein-protein interaction databases

BioGridi120288. 18 interactions.
IntActiQ9NX18. 4 interactions.
MINTiMINT-1381599.
STRINGi9606.ENSP00000301761.

Structurei

3D structure databases

ProteinModelPortaliQ9NX18.
SMRiQ9NX18. Positions 57-150.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SDHAF2 family.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG2938.
GeneTreeiENSGT00390000001149.
HOGENOMiHOG000230636.
InParanoidiQ9NX18.
KOiK18168.
OMAiYLFEKPH.
PhylomeDBiQ9NX18.
TreeFamiTF300175.

Family and domain databases

Gene3Di1.10.150.250. 1 hit.
HAMAPiMF_03057. SDHAF2.
InterProiIPR005631. SDH.
IPR028882. SDHAF2.
[Graphical view]
PfamiPF03937. Sdh5. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781G → R in PGL2; abolishes interaction with SDHA and flavination of SDHA. 1 Publication
VAR_058705

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.3. human.

Polymorphism databases

DMDMi74734683.

Cross-referencesi

Web resourcesi

TCA Cycle Gene Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000494 mRNA. Translation: BAA91204.1 .
BC002331 mRNA. Translation: AAH02331.1 .
CCDSi CCDS8007.1.
RefSeqi NP_060311.1. NM_017841.2.
UniGenei Hs.313247.

3D structure databases

ProteinModelPortali Q9NX18.
SMRi Q9NX18. Positions 57-150.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120288. 18 interactions.
IntActi Q9NX18. 4 interactions.
MINTi MINT-1381599.
STRINGi 9606.ENSP00000301761.

PTM databases

PhosphoSitei Q9NX18.

Polymorphism databases

DMDMi 74734683.

Proteomic databases

MaxQBi Q9NX18.
PaxDbi Q9NX18.
PRIDEi Q9NX18.

Protocols and materials databases

DNASUi 54949.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000301761 ; ENSP00000301761 ; ENSG00000167985 .
GeneIDi 54949.
KEGGi hsa:54949.
UCSCi uc001nrt.3. human.

Organism-specific databases

CTDi 54949.
GeneCardsi GC11P061198.
GeneReviewsi SDHAF2.
HGNCi HGNC:26034. SDHAF2.
HPAi HPA039464.
HPA039732.
MIMi 601650. phenotype.
613019. gene.
neXtProti NX_Q9NX18.
Orphaneti 29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKBi PA165543618.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2938.
GeneTreei ENSGT00390000001149.
HOGENOMi HOG000230636.
InParanoidi Q9NX18.
KOi K18168.
OMAi YLFEKPH.
PhylomeDBi Q9NX18.
TreeFami TF300175.

Miscellaneous databases

ChiTaRSi SDHAF2. human.
GenomeRNAii 54949.
NextBioi 58119.
PROi Q9NX18.
SOURCEi Search...

Gene expression databases

Bgeei Q9NX18.
CleanExi HS_C11orf79.
ExpressionAtlasi Q9NX18. baseline and differential.
Genevestigatori Q9NX18.

Family and domain databases

Gene3Di 1.10.150.250. 1 hit.
HAMAPi MF_03057. SDHAF2.
InterProi IPR005631. SDH.
IPR028882. SDHAF2.
[Graphical view ]
Pfami PF03937. Sdh5. 1 hit.
[Graphical view ]
SUPFAMi SSF109910. SSF109910. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: VARIANT PGL2 ARG-78, CHARACTERIZATION OF VARIANT PGL2 ARG-78, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SDHA.

Entry informationi

Entry nameiSDHF2_HUMAN
AccessioniPrimary (citable) accession number: Q9NX18
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: October 1, 2000
Last modified: November 26, 2014
This is version 98 of the entry and version 1 of the sequence. [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

External Data

Dasty 3