Skip Header

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

Succinate dehydrogenase assembly factor 1, mitochondrial

Gene

SDHAF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 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. Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants. May act together with SDHAF3.2 Publications

GO - Biological processi

  • mitochondrial respiratory chain complex II assembly Source: UniProtKB

Keywordsi

Molecular functionChaperone

Names & Taxonomyi

Protein namesi
Recommended name:
Succinate dehydrogenase assembly factor 1, mitochondrial1 Publication
Short name:
SDH assembly factor 11 Publication
Short name:
SDHAF11 Publication
Alternative name(s):
LYR motif-containing protein 8
Gene namesi
Name:SDHAF11 PublicationImported
Synonyms:LYRM8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000205138.3.
HGNCiHGNC:33867. SDHAF1.

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

Mitochondrial complex II deficiency (MT-C2D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome.
See also OMIM:252011
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05809755R → P in MT-C2D. 1 PublicationCorresponds to variant dbSNP:rs137853193Ensembl.1
Natural variantiVAR_05809857G → R in MT-C2D. 1 PublicationCorresponds to variant dbSNP:rs137853192Ensembl.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi644096.
MalaCardsiSDHAF1.
MIMi252011. phenotype.
OpenTargetsiENSG00000205138.
Orphaneti3208. Isolated succinate-CoQ reductase deficiency.
PharmGKBiPA165394270.

Polymorphism and mutation databases

BioMutaiSDHAF1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003279161 – 115Succinate dehydrogenase assembly factor 1, mitochondrialAdd BLAST115

Proteomic databases

PaxDbiA6NFY7.
PRIDEiA6NFY7.
TopDownProteomicsiA6NFY7.

PTM databases

iPTMnetiA6NFY7.
PhosphoSitePlusiA6NFY7.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000205138.
GenevisibleiA6NFY7. HS.

Organism-specific databases

HPAiHPA064277.

Interactioni

Subunit structurei

Interacts with SDHB within an SDHA-SDHB subcomplex.By similarity

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi569311. 3 interactors.
DIPiDIP-62123N.
IntActiA6NFY7. 6 interactors.
STRINGi9606.ENSP00000368165.

Structurei

3D structure databases

ProteinModelPortaliA6NFY7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I LYR family. SDHAF1 subfamily.Curated

Phylogenomic databases

eggNOGiKOG4620. Eukaryota.
ENOG41122JQ. LUCA.
GeneTreeiENSGT00390000013122.
HOGENOMiHOG000235089.
InParanoidiA6NFY7.
KOiK18167.
OMAiMHIEYLY.
OrthoDBiEOG091G12E4.
PhylomeDBiA6NFY7.
TreeFamiTF344152.

Family and domain databases

InterProiView protein in InterPro
IPR008011. Complex1_LYR.
PfamiView protein in Pfam
PF05347. Complex1_LYR. 1 hit.

Sequencei

Sequence statusi: Complete.

A6NFY7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSRHSRLQRQ VLSLYRDLLR AGRGKPGAEA RVRAEFRQHA GLPRSDVLRI
60 70 80 90 100
EYLYRRGRRQ LQLLRSGHAT AMGAFVRPRA PTGEPGGVGC QPDDGDSPRN
110
PHDSTGAPET RPDGR
Length:115
Mass (Da):12,806
Last modified:July 24, 2007 - v1
Checksum:iFD4933D1495979DE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti90C → S in AAI37517 (PubMed:15489334).Curated1
Sequence conflicti90C → S in AAI37518 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05809755R → P in MT-C2D. 1 PublicationCorresponds to variant dbSNP:rs137853193Ensembl.1
Natural variantiVAR_05809857G → R in MT-C2D. 1 PublicationCorresponds to variant dbSNP:rs137853192Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF038458 Genomic DNA. No translation available.
BC137516 mRNA. Translation: AAI37517.1.
BC137517 mRNA. Translation: AAI37518.1.
CCDSiCCDS32999.1.
RefSeqiNP_001036096.1. NM_001042631.2.
UniGeneiHs.356460.

Genome annotation databases

EnsembliENST00000378887; ENSP00000368165; ENSG00000205138.
GeneIDi644096.
KEGGihsa:644096.
UCSCiuc002ocp.4. human.

Similar proteinsi

Entry informationi

Entry nameiSDHF1_HUMAN
AccessioniPrimary (citable) accession number: A6NFY7
Secondary accession number(s): B2RPM7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: July 24, 2007
Last modified: September 27, 2017
This is version 74 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

Documents

  1. Human chromosome 19
    Human chromosome 19: 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