SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9NX18

- SDHF2_HUMAN

UniProt

Q9NX18 - SDHF2_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Succinate dehydrogenase assembly factor 2, mitochondrial
Gene
SDHAF2, C11orf79, PGL2, SDH5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 Publication

GO - Molecular functioni

  1. protein binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. mitochondrial electron transport, succinate to ubiquinone Source: UniProtKB
  2. protein-FAD linkage Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:SDHAF2
Synonyms:C11orf79, PGL2, SDH5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:26034. SDHAF2.

Subcellular locationi

Mitochondrion 1 Publication

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 2929Mitochondrion Reviewed prediction
Add
BLAST
Chaini30 – 166137Succinate dehydrogenase assembly factor 2, mitochondrialUniRule annotation
PRO_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 Publication

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ9NX18.
SMRiQ9NX18. Positions 57-150.

Family & Domainsi

Sequence similaritiesi

Belongs to the SDHAF2 family.

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...

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

« 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: July 9, 2014
This is version 95 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

Similar proteinsi