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Aliases for SDHAF1 Gene

Aliases for SDHAF1 Gene

  • Succinate Dehydrogenase Complex Assembly Factor 1 2 3
  • LYR Motif-Containing Protein 8 3 4
  • LYR Motif Containing 8 2 3
  • SDH Assembly Factor 1 3 4
  • LYRM8 3 4
  • Succinate Dehydrogenase Assembly Factor 1, Mitochondrial 3

External Ids for SDHAF1 Gene

Summaries for SDHAF1 Gene

Entrez Gene Summary for SDHAF1 Gene

  • The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]

GeneCards Summary for SDHAF1 Gene

SDHAF1 (Succinate Dehydrogenase Complex Assembly Factor 1) is a Protein Coding gene. Diseases associated with SDHAF1 include mitochondrial complex ii deficiency and mitochondrial respiratory chain complex ii deficiency, sdhaf1-related.

UniProtKB/Swiss-Prot for SDHAF1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SDHAF1 Gene

Genomics for SDHAF1 Gene

Genomic Location for SDHAF1 Gene

Start:
35,995,188 bp from pter
End:
35,996,318 bp from pter
Size:
1,131 bases
Orientation:
Plus strand

Genomic View for SDHAF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SDHAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SDHAF1 Gene

No data available for Regulatory Elements for SDHAF1 Gene

Proteins for SDHAF1 Gene

  • Protein details for SDHAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NFY7-SDHF1_HUMAN
    Recommended name:
    Succinate dehydrogenase assembly factor 1, mitochondrial
    Protein Accession:
    A6NFY7
    Secondary Accessions:
    • B2RPM7

    Protein attributes for SDHAF1 Gene

    Size:
    115 amino acids
    Molecular mass:
    12806 Da
    Quaternary structure:
    • Interacts with SDHB within an SDHA-SDHB subcomplex.

neXtProt entry for SDHAF1 Gene

Proteomics data for SDHAF1 Gene at MOPED

Post-translational modifications for SDHAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SDHAF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SDHAF1 Gene

Domains for SDHAF1 Gene

Gene Families for SDHAF1 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors
  • LYRM :LYR motif containing

Protein Domains for SDHAF1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

SDHF1_HUMAN
Family:
  • Belongs to the complex I LYR family. SDHAF1 subfamily.:
    • A6NFY7
genes like me logo Genes that share domains with SDHAF1: view

Function for SDHAF1 Gene

Molecular function for SDHAF1 Gene

UniProtKB/Swiss-Prot Function: 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.

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SDHAF1 Gene

Localization for SDHAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDHAF1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SDHAF1 Gene COMPARTMENTS Subcellular localization image for SDHAF1 gene
Compartment Confidence
mitochondrion 5
nucleus 1

Gene Ontology (GO) - Cellular Components for SDHAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 19465911
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with SDHAF1: view

Pathways for SDHAF1 Gene

SuperPathways for SDHAF1 Gene

No Data Available

Interacting Proteins for SDHAF1 Gene

Gene Ontology (GO) - Biological Process for SDHAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016226 iron-sulfur cluster assembly NAS 19465911
GO:0034553 mitochondrial respiratory chain complex II assembly IMP 19465911
genes like me logo Genes that share ontologies with SDHAF1: view

No data available for Pathways by source for SDHAF1 Gene

Transcripts for SDHAF1 Gene

mRNA/cDNA for SDHAF1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SDHAF1 Gene

Succinate dehydrogenase complex assembly factor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SDHAF1 Gene

No ASD Table

Relevant External Links for SDHAF1 Gene

GeneLoc Exon Structure for
SDHAF1
ECgene alternative splicing isoforms for
SDHAF1

Expression for SDHAF1 Gene

mRNA expression in normal human tissues for SDHAF1 Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SDHAF1 Gene

SOURCE GeneReport for Unigene cluster for SDHAF1 Gene Hs.356460

mRNA Expression by UniProt/SwissProt for SDHAF1 Gene

A6NFY7-SDHF1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expressions with SDHAF1: view

Orthologs for SDHAF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SDHAF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SDHAF1 36
  • 98.55 (n)
  • 98.26 (a)
SDHAF1 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SDHAF1 36
  • 83.48 (n)
  • 80 (a)
SDHAF1 37
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 81 (a)
OneToMany
-- 37
  • 71 (a)
OneToMany
SDHAF1 36
  • 85.22 (n)
  • 82.61 (a)
mouse
(Mus musculus)
Mammalia Sdhaf1 36
  • 80.58 (n)
  • 80 (a)
Sdhaf1 16
Sdhaf1 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SDHAF1 37
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732873 36
  • 55.69 (n)
  • 54.88 (a)
zebrafish
(Danio rerio)
Actinopterygii sdhaf1 36
  • 56.44 (n)
  • 53.33 (a)
sdhaf1 37
  • 46 (a)
OneToOne
Species with no ortholog for SDHAF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SDHAF1 Gene

ENSEMBL:
Gene Tree for SDHAF1 (if available)
TreeFam:
Gene Tree for SDHAF1 (if available)

Paralogs for SDHAF1 Gene

No data available for Paralogs for SDHAF1 Gene

Variants for SDHAF1 Gene

Sequence variations from dbSNP and Humsavar for SDHAF1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs7925 -- 35,996,244(+) GGGGC(A/G)ACATT utr-variant-3-prime
rs1063123 -- 35,996,123(+) CCCTT(C/T)TGGAA utr-variant-3-prime
rs4806246 -- 35,994,175(+) GGGTT(C/G)CAGTC upstream-variant-2KB
rs4806247 -- 35,994,573(+) CGAAC(C/T)GGTag upstream-variant-2KB
rs7250058 -- 35,995,039(+) CACGT(C/T)CCCTA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SDHAF1 Gene

Variant ID Type Subtype PubMed ID
nsv911638 CNV Loss 21882294
dgv51n68 CNV Loss 17160897
nsv911641 CNV Loss 21882294

Relevant External Links for SDHAF1 Gene

HapMap Linkage Disequilibrium report
SDHAF1
Human Gene Mutation Database (HGMD)
SDHAF1

Disorders for SDHAF1 Gene

(1) OMIM Diseases for SDHAF1 Gene (612848)

UniProtKB/Swiss-Prot

SDHF1_HUMAN
  • Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SDHAF1 Gene

genes like me logo Genes that share disorders with SDHAF1: view

Publications for SDHAF1 Gene

  1. SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. (PMID: 19465911) Ghezzi D. … Zeviani M. (Nat. Genet. 2009) 2 3 4
  2. Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. (PMID: 22995659) Ohlenbusch A. … Brockmann K. (Orphanet J Rare Dis 2012) 3
  3. The role of complex II in disease. (PMID: 23174333) Hoekstra A.S. … Bayley J.P. (Biochim. Biophys. Acta 2013) 3
  4. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4

Products for SDHAF1 Gene

Sources for SDHAF1 Gene

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