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Q9NX18

- SDHF2_HUMAN

UniProt

Q9NX18 - SDHF2_HUMAN

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
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    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.1 PublicationUniRule annotation

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Succinate dehydrogenase assembly factor 2, mitochondrialUniRule annotation
    Short name:
    SDH assembly factor 2UniRule annotation
    Alternative name(s):
    Succinate dehydrogenase subunit 5, mitochondrialUniRule annotation
    Short name:
    hSDH5
    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 1 PublicationUniRule annotation

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB

    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 – 2929MitochondrionUniRule annotationAdd
    BLAST
    Chaini30 – 166137Succinate dehydrogenase assembly factor 2, mitochondrialPRO_0000294357Add
    BLAST

    Proteomic databases

    MaxQBiQ9NX18.
    PaxDbiQ9NX18.
    PRIDEiQ9NX18.

    PTM databases

    PhosphoSiteiQ9NX18.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NX18.
    BgeeiQ9NX18.
    CleanExiHS_C11orf79.
    GenevestigatoriQ9NX18.

    Organism-specific databases

    HPAiHPA039464.
    HPA039732.

    Interactioni

    Subunit structurei

    Interacts with SDHA.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.
    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

    MAVSTVFSTS SLMLALSRHS LLSPLLSVTS FRRFYRGDSP TDSQKDMIEI    50
    PLPPWQERTD ESIETKRARL LYESRKRGML ENCILLSLFA KEHLQHMTEK 100
    QLNLYDRLIN EPSNDWDIYY WATEAKPAPE IFENEVMALL RDFAKNKNKE 150
    QRLRAPDLEY LFEKPR 166
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    HOGENOMi HOG000230636.
    InParanoidi Q9NX18.
    KOi K18168.
    OMAi YLFEKPH.
    PhylomeDBi Q9NX18.
    TreeFami TF300175.

    Miscellaneous databases

    GenomeRNAii 54949.
    NextBioi 58119.
    PROi Q9NX18.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NX18.
    Bgeei Q9NX18.
    CleanExi HS_C11orf79.
    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

    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: October 1, 2014
    This is version 96 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