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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
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

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

HGNCiHGNC:33867. SDHAF1.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial matrix Source: UniProtKB-SubCell
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex II deficiency (MT-C2D)
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551R → P in MT-C2D. 1 Publication
Corresponds to variant rs137853193 [ dbSNP | Ensembl ].
VAR_058097
Natural varianti57 – 571G → R in MT-C2D. 1 Publication
Corresponds to variant rs137853192 [ dbSNP | Ensembl ].
VAR_058098

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiSDHAF1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 115115Succinate dehydrogenase assembly factor 1, mitochondrialPRO_0000327916Add
BLAST

Proteomic databases

PaxDbiA6NFY7.
PeptideAtlasiA6NFY7.
PRIDEiA6NFY7.
TopDownProteomicsiA6NFY7.

PTM databases

iPTMnetiA6NFY7.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiA6NFY7.
GenevisibleiA6NFY7. HS.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

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.
OrthoDBiEOG7S7SH7.
PhylomeDBiA6NFY7.
TreeFamiTF344152.

Family and domain databases

InterProiIPR008011. Complex1_LYR.
[Graphical view]
PfamiPF05347. Complex1_LYR. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti90 – 901C → S in AAI37517 (PubMed:15489334).Curated
Sequence conflicti90 – 901C → S in AAI37518 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551R → P in MT-C2D. 1 Publication
Corresponds to variant rs137853193 [ dbSNP | Ensembl ].
VAR_058097
Natural varianti57 – 571G → R in MT-C2D. 1 Publication
Corresponds to variant rs137853192 [ dbSNP | Ensembl ].
VAR_058098

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.

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

STRINGi9606.ENSP00000368165.

PTM databases

iPTMnetiA6NFY7.

Polymorphism and mutation databases

BioMutaiSDHAF1.

Proteomic databases

PaxDbiA6NFY7.
PeptideAtlasiA6NFY7.
PRIDEiA6NFY7.
TopDownProteomicsiA6NFY7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi644096.
GeneCardsiSDHAF1.
HGNCiHGNC:33867. SDHAF1.
MalaCardsiSDHAF1.
MIMi252011. phenotype.
612848. gene.
neXtProtiNX_A6NFY7.
Orphaneti3208. Isolated succinate-CoQ reductase deficiency.
PharmGKBiPA165394270.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4620. Eukaryota.
ENOG41122JQ. LUCA.
GeneTreeiENSGT00390000013122.
HOGENOMiHOG000235089.
InParanoidiA6NFY7.
KOiK18167.
OMAiMHIEYLY.
OrthoDBiEOG7S7SH7.
PhylomeDBiA6NFY7.
TreeFamiTF344152.

Miscellaneous databases

ChiTaRSiSDHAF1. human.
GenomeRNAii644096.
PROiA6NFY7.
SOURCEiSearch...

Gene expression databases

BgeeiA6NFY7.
GenevisibleiA6NFY7. HS.

Family and domain databases

InterProiIPR008011. Complex1_LYR.
[Graphical view]
PfamiPF05347. Complex1_LYR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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: Brain.
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  4. "SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy."
    Ghezzi D., Goffrini P., Uziel G., Horvath R., Klopstock T., Lochmuller H., D'Adamo P., Gasparini P., Strom T.M., Prokisch H., Invernizzi F., Ferrero I., Zeviani M.
    Nat. Genet. 41:654-656(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MT-C2D PRO-55 AND ARG-57, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  5. "The LYR factors SDHAF1 and SDHAF3 mediate maturation of the iron-sulfur subunit of succinate dehydrogenase."
    Na U., Yu W., Cox J., Bricker D.K., Brockmann K., Rutter J., Thummel C.S., Winge D.R.
    Cell Metab. 20:253-266(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.

Entry informationi

Entry nameiSDHF1_HUMAN
AccessioniPrimary (citable) accession number: A6NFY7
Secondary accession number(s): B2RPM7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: July 24, 2007
Last modified: July 6, 2016
This is version 65 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 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.