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Protein

Succinate dehydrogenase assembly factor 1, mitochondrial

Gene

SDHAF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi612848 gene
neXtProtiNX_A6NFY7

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:rs137853193EnsemblClinVar.1
Natural variantiVAR_05809857G → R in MT-C2D. 1 PublicationCorresponds to variant dbSNP:rs137853192EnsemblClinVar.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
ProteomicsDBi1090
TopDownProteomicsiA6NFY7

PTM databases

iPTMnetiA6NFY7
PhosphoSitePlusiA6NFY7

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000205138 Expressed in 224 organ(s), highest expression level in cerebellum
GenevisibleiA6NFY7 HS

Organism-specific databases

HPAiHPA064277

Interactioni

Subunit structurei

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

Binary interactionsi

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:rs137853193EnsemblClinVar.1
Natural variantiVAR_05809857G → R in MT-C2D. 1 PublicationCorresponds to variant dbSNP:rs137853192EnsemblClinVar.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

Cross-referencesi

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

3D structure databases

ProteinModelPortaliA6NFY7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiA6NFY7
PhosphoSitePlusiA6NFY7

Polymorphism and mutation databases

BioMutaiSDHAF1

Proteomic databases

PaxDbiA6NFY7
PRIDEiA6NFY7
ProteomicsDBi1090
TopDownProteomicsiA6NFY7

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi644096
DisGeNETi644096
EuPathDBiHostDB:ENSG00000205138.3
GeneCardsiSDHAF1
HGNCiHGNC:33867 SDHAF1
HPAiHPA064277
MalaCardsiSDHAF1
MIMi252011 phenotype
612848 gene
neXtProtiNX_A6NFY7
OpenTargetsiENSG00000205138
Orphaneti3208 Isolated succinate-CoQ reductase deficiency
PharmGKBiPA165394270
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiSDHAF1 human
GenomeRNAii644096
PROiPR:A6NFY7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000205138 Expressed in 224 organ(s), highest expression level in cerebellum
GenevisibleiA6NFY7 HS

Family and domain databases

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

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 12, 2018
This is version 76 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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