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Aliases for SDHAF3 Gene

Aliases for SDHAF3 Gene

  • Succinate Dehydrogenase Complex Assembly Factor 3 2 3 5
  • SDH Assembly Factor 3 3 4
  • ACN9 3 4
  • Succinate Dehydrogenase Assembly Factor 3, Mitochondrial 3
  • Protein ACN9 Homolog, Mitochondrial 3
  • ACN9 Homolog (S. Cerevisiae) 2
  • ACN9 Homolog 3
  • LYRM10 3
  • DC11 3
  • Sdh7 3

External Ids for SDHAF3 Gene

Previous HGNC Symbols for SDHAF3 Gene

  • ACN9

Summaries for SDHAF3 Gene

GeneCards Summary for SDHAF3 Gene

SDHAF3 (Succinate Dehydrogenase Complex Assembly Factor 3) is a Protein Coding gene.

UniProtKB/Swiss-Prot for SDHAF3 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 SDHAF1.

Additional gene information for SDHAF3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SDHAF3 Gene

Genomics for SDHAF3 Gene

GeneHancer (GH) Regulatory Elements for SDHAF3 Gene

Promoters and enhancers for SDHAF3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I097116 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 555.3 +1.4 1416 3.6 ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 ZNF610 GLIS1 RCOR2 SDHAF3 HMGB3P21
GH07I097864 Promoter 0.5 EPDnew 9.4 +748.0 747972 0.1 ASNS SDHAF3 GC07P097867 GC07M097771 ENSG00000284707
GH07I097126 Enhancer 0.9 ENCODE 0.4 +10.0 10044 1.1 HDAC1 PKNOX1 ATF1 TAF9B ARNT NFRKB TCF12 POLR2B ZNF766 CBX5 HMGB3P21 SDHAF3
GH07I097104 Enhancer 0.8 ENCODE 0.4 -11.7 -11746 0.2 PKNOX1 ARNT SIN3A ZNF2 RAD21 ZNF335 CBX5 ARID2 ZNF143 ATF7 SDHAF3 PIR43290
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SDHAF3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SDHAF3 Gene

Genomic Locations for SDHAF3 Gene
chr7:97,116,590-97,181,763
(GRCh38/hg38)
Size:
65,174 bases
Orientation:
Plus strand
chr7:96,745,902-96,811,075
(GRCh37/hg19)

Genomic View for SDHAF3 Gene

Genes around SDHAF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDHAF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDHAF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SDHAF3 Gene

Proteins for SDHAF3 Gene

  • Protein details for SDHAF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRP4-SDHF3_HUMAN
    Recommended name:
    Succinate dehydrogenase assembly factor 3, mitochondrial
    Protein Accession:
    Q9NRP4
    Secondary Accessions:
    • A4D1J3
    • Q75MD6

    Protein attributes for SDHAF3 Gene

    Size:
    125 amino acids
    Molecular mass:
    14652 Da
    Quaternary structure:
    • Interacts with SDHB within an SDHA-SDHB subcomplex.

neXtProt entry for SDHAF3 Gene

Post-translational modifications for SDHAF3 Gene

No Post-translational modifications

Other Protein References for SDHAF3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SDHAF3 Gene

Domains & Families for SDHAF3 Gene

Protein Domains for SDHAF3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SDHAF3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NRP4

UniProtKB/Swiss-Prot:

SDHF3_HUMAN :
  • Belongs to the complex I LYR family. SDHAF3 subfamily.
Family:
  • Belongs to the complex I LYR family. SDHAF3 subfamily.
genes like me logo Genes that share domains with SDHAF3: view

Function for SDHAF3 Gene

Molecular function for SDHAF3 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 SDHAF1.

Phenotypes From GWAS Catalog for SDHAF3 Gene

genes like me logo Genes that share phenotypes with SDHAF3: view

miRNA for SDHAF3 Gene

miRTarBase miRNAs that target SDHAF3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SDHAF3 Gene

Localization for SDHAF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDHAF3 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SDHAF3 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytoskeleton 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SDHAF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005758 mitochondrial intermembrane space ISS 10103055
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with SDHAF3: view

Pathways & Interactions for SDHAF3 Gene

SuperPathways for SDHAF3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SDHAF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006105 succinate metabolic process IBA --
GO:0006111 regulation of gluconeogenesis IBA,ISS --
GO:0006979 response to oxidative stress IBA --
GO:0034553 mitochondrial respiratory chain complex II assembly IBA --
genes like me logo Genes that share ontologies with SDHAF3: view

No data available for Pathways by source and SIGNOR curated interactions for SDHAF3 Gene

Drugs & Compounds for SDHAF3 Gene

No Compound Related Data Available

Transcripts for SDHAF3 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SDHAF3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for SDHAF3 Gene

GeneLoc Exon Structure for
SDHAF3
ECgene alternative splicing isoforms for
SDHAF3

Expression for SDHAF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SDHAF3 Gene

Protein differential expression in normal tissues from HIPED for SDHAF3 Gene

This gene is overexpressed in Liver (38.1) and Heart (30.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SDHAF3 Gene



Protein tissue co-expression partners for SDHAF3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SDHAF3 Gene:

SDHAF3

Evidence on tissue expression from TISSUES for SDHAF3 Gene

  • Lymph node(4.3)
  • Bone marrow(4.2)
  • Liver(4.2)
  • Spleen(4.2)
  • Blood(4)
genes like me logo Genes that share expression patterns with SDHAF3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SDHAF3 Gene

Orthologs for SDHAF3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SDHAF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACN9 33 34
  • 98.93 (n)
dog
(Canis familiaris)
Mammalia ACN9 33 34
  • 86.67 (n)
mouse
(Mus musculus)
Mammalia Acn9 33 34
  • 84.27 (n)
Sdhaf3 16
cow
(Bos Taurus)
Mammalia ACN9 33 34
  • 83.73 (n)
oppossum
(Monodelphis domestica)
Mammalia ACN9 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACN9 33 34
  • 65.3 (n)
lizard
(Anolis carolinensis)
Reptilia ACN9 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acn9 33
  • 63.77 (n)
zebrafish
(Danio rerio)
Actinopterygii acn9 33 34
  • 59.89 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010277 33
  • 51.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14898 33 34
  • 49.17 (n)
worm
(Caenorhabditis elegans)
Secernentea F25H9.7 34
  • 31 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDH7 36
Species where no ortholog for SDHAF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)

Evolution for SDHAF3 Gene

ENSEMBL:
Gene Tree for SDHAF3 (if available)
TreeFam:
Gene Tree for SDHAF3 (if available)

Paralogs for SDHAF3 Gene

Pseudogenes.org Pseudogenes for SDHAF3 Gene

genes like me logo Genes that share paralogs with SDHAF3: view

No data available for Paralogs for SDHAF3 Gene

Variants for SDHAF3 Gene

Sequence variations from dbSNP and Humsavar for SDHAF3 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000023314 -- 97,128,052(+) C/T intron_variant
rs1000029169 -- 97,149,604(+) G/A intron_variant
rs1000075833 -- 97,128,277(+) A/G intron_variant
rs1000252917 -- 97,160,105(+) C/T intron_variant
rs1000271163 -- 97,173,355(+) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SDHAF3 Gene

Variant ID Type Subtype PubMed ID
nsv1117741 CNV deletion 24896259
esv3614223 CNV loss 21293372
esv3614222 CNV loss 21293372
esv2734857 CNV deletion 23290073
esv2662531 CNV deletion 23128226

Variation tolerance for SDHAF3 Gene

Residual Variation Intolerance Score: 62.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SDHAF3 Gene

Human Gene Mutation Database (HGMD)
SDHAF3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SDHAF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDHAF3 Gene

Disorders for SDHAF3 Gene

Additional Disease Information for SDHAF3

No disorders were found for SDHAF3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SDHAF3 Gene

Publications for SDHAF3 Gene

  1. The LYR factors SDHAF1 and SDHAF3 mediate maturation of the iron-sulfur subunit of succinate dehydrogenase. (PMID: 24954417) Na U … Winge DR (Cell metabolism 2014) 2 3 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58
  5. Acn9 is a novel protein of gluconeogenesis that is located in the mitochondrial intermembrane space. (PMID: 10103055) Dennis RA … McCammon MT (European journal of biochemistry 1999) 3 22 58

Products for SDHAF3 Gene

Sources for SDHAF3 Gene

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