Free for academic non-profit institutions. Other users need a Commercial license

SDHAF4 Gene(Protein Coding)

Succinate Dehydrogenase Complex Assembly Factor 4

GCID:
GC06P070566
GIFtS:
37
Genes Participants
UDN Logo

Aliases for SDHAF4 Gene

Aliases for SDHAF4 Gene

  • Succinate Dehydrogenase Complex Assembly Factor 4 2 3 5
  • SDH Assembly Factor 4 3 4
  • C6orf57 3 4
  • Succinate Dehydrogenase Assembly Factor 4, Mitochondrial 3
  • Chromosome 6 Open Reading Frame 57 2
  • UPF0369 Protein C6orf57 3
  • Sdh8 3

External Ids for SDHAF4 Gene

Previous HGNC Symbols for SDHAF4 Gene

  • C6orf57

Summaries for SDHAF4 Gene

GeneCards Summary for SDHAF4 Gene

SDHAF4 (Succinate Dehydrogenase Complex Assembly Factor 4) is a Protein Coding gene.

UniProtKB/Swiss-Prot for SDHAF4 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 (PubMed:24954416). Binds to the flavoprotein subunit SDHA in its FAD-bound form, blocking the generation of excess reactive oxigen species (ROS) and facilitating its assembly with the iron-sulfur protein subunit SDHB into the SDH catalytic dimer (By similarity).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SDHAF4 Gene

Genomics for SDHAF4 Gene

Products:

  1. Regulatory Element

Regulatory Elements for SDHAF4 Gene

Enhancers for SDHAF4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G070666 1.1 ENCODE 11.1 +101.4 101351 3.0 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 KLF13 SMAP1 SDHAF4 B3GAT2 GC06M070679
GH06G070378 1 ENCODE dbSUPER 11.8 -187.0 -187026 2.8 BHLHE40 JUNB MAFG EBF1 DPF2 ATF2 HIC1 MAFF ZNF316 ARID3A SDHAF4 EVADR LOC105377848 GC06P070315
GH06G070410 1.4 ENCODE dbSUPER 8.3 -153.3 -153291 5.3 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 EVADR SDHAF4 LOC105377849 FAM135A
GH06G070390 1.6 Ensembl ENCODE dbSUPER 5.8 -171.3 -171345 10.6 HDGF HNRNPUL1 PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A FEZF1 ZNF2 EVADR SDHAF4 LOC105377847
GH06G070506 0.4 ENCODE 8.5 -59.3 -59260 2.9 NFE2 ZBTB40 EVADR SDHAF4 GC06P070515 LOC105377849
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SDHAF4 on UCSC Golden Path with GeneCards custom track

Promoters for SDHAF4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000198667 283 1201 HDGF MLX CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

Genomic Location for SDHAF4 Gene

Chromosome:
6
Start:
70,566,917 bp from pter
End:
70,589,569 bp from pter
Size:
22,653 bases
Orientation:
Plus strand

Genomic View for SDHAF4 Gene

Genes around SDHAF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDHAF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDHAF4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SDHAF4 Gene

Proteins for SDHAF4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SDHAF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VUM1-SDHF4_HUMAN
    Recommended name:
    Succinate dehydrogenase assembly factor 4, mitochondrial
    Protein Accession:
    Q5VUM1
    Secondary Accessions:
    • E1P532

    Protein attributes for SDHAF4 Gene

    Size:
    108 amino acids
    Molecular mass:
    12213 Da
    Quaternary structure:
    • Interacts with SDHA in its FAD-bound form.

neXtProt entry for SDHAF4 Gene

Protein Expression for SDHAF4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SDHAF4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SDHAF4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SDHAF4 Gene

Domains & Families for SDHAF4 Gene

Gene Families for SDHAF4 Gene

HGNC:

Protein Domains for SDHAF4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SDHAF4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VUM1

UniProtKB/Swiss-Prot:

SDHF4_HUMAN :
  • Belongs to the SDHAF4 family.
Family:
  • Belongs to the SDHAF4 family.
genes like me logo Genes that share domains with SDHAF4: view

Function for SDHAF4 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SDHAF4 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 (PubMed:24954416). Binds to the flavoprotein subunit SDHA in its FAD-bound form, blocking the generation of excess reactive oxigen species (ROS) and facilitating its assembly with the iron-sulfur protein subunit SDHB into the SDH catalytic dimer (By similarity).
genes like me logo Genes that share phenotypes with SDHAF4: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SDHAF4 Gene

Localization for SDHAF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDHAF4 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 SDHAF4 gene
Compartment Confidence
mitochondrion 5
nucleus 3

Gene Ontology (GO) - Cellular Components for SDHAF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with SDHAF4: view

Pathways & Interactions for SDHAF4 Gene

SuperPathways for SDHAF4 Gene

PathCards logo More details on SuperPathways for SDHAF4
No Data Available

Gene Ontology (GO) - Biological Process for SDHAF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with SDHAF4: view

No data available for Pathways by source and SIGNOR curated interactions for SDHAF4 Gene

Drugs & Compounds for SDHAF4 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for SDHAF4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SDHAF4 Gene

(1) REFSEQ mRNAs :
(42) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SDHAF4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5
SP1: -
SP2: -
SP3: - -

Relevant External Links for SDHAF4 Gene

GeneLoc Exon Structure for
SDHAF4
ECgene alternative splicing isoforms for
SDHAF4

Expression for SDHAF4 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SDHAF4 Gene

mRNA expression in normal human tissues for SDHAF4 Gene
mRNA expression by GTEx for SDHAF4 Gene

Protein differential expression in normal tissues from HIPED for SDHAF4 Gene

This gene is overexpressed in Nasal epithelium (60.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SDHAF4 Gene



NURSA nuclear receptor signaling pathways regulating expression of SDHAF4 Gene:

SDHAF4
genes like me logo Genes that share expression patterns with SDHAF4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SDHAF4 Gene

Orthologs for SDHAF4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SDHAF4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia C6orf57 35
  • 100 (a)
 OneToOne
C6H6orf57 34
  • 99.69 (n)
dog
(Canis familiaris)
 Mammalia C12H6orf57 34
  • 88.47 (n)
C6ORF57 35
  • 85 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia C9H6orf57 34
  • 82.61 (n)
MGC137021 35
  • 53 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia 1110058L19Rik 34 35
  • 79.85 (n)
Sdhaf4 16
rat
(Rattus norvegicus)
 Mammalia LOC685888 34
  • 78.85 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia C6orf57 35
  • 65 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia C6orf57 35
  • 60 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves C6ORF57 34
  • 69.6 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 58 (a)
 OneToMany
-- 35
  • 54 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia c6orf57 34
  • 63.45 (n)
zebrafish
(Danio rerio)
 Actinopterygii si:busm1-265n4.4 34
  • 63.53 (n)
C13H6orf57 35
  • 53 (a)
 OneToOne
Dr.16925 34
fruit fly
(Drosophila melanogaster)
 Insecta CG7224 35
  • 30 (a)
 OneToMany
CG15283 35
  • 27 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea W02D3.12 35
  • 38 (a)
 OneToOne
Species where no ortholog for SDHAF4 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 SDHAF4 Gene

ENSEMBL:
Gene Tree for SDHAF4 (if available)
TreeFam:
Gene Tree for SDHAF4 (if available)

Paralogs for SDHAF4 Gene

No data available for Paralogs for SDHAF4 Gene

Variants for SDHAF4 Gene

Sequence variations from dbSNP and Humsavar for SDHAF4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000112844 -- 70,585,667(+) AATTC(A/G)TGGAG intron-variant
rs1000187244 -- 70,585,208(+) AGAGT(A/T)AGGTA intron-variant
rs1000422459 -- 70,573,512(+) ACCTG(C/T)CTCAG intron-variant
rs1000455519 -- 70,573,180(+) GTCTC(C/T)ATGCG intron-variant
rs1000649552 -- 70,589,385(+) GGTCT(C/G)GAACT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for SDHAF4 Gene

Variant ID Type Subtype PubMed ID
nsv1027049 CNV gain 25217958
nsv524328 CNV gain 19592680

Variation tolerance for SDHAF4 Gene

Residual Variation Intolerance Score: 73.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.37; 81.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SDHAF4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SDHAF4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDHAF4 Gene

Disorders for SDHAF4 Gene

Relevant External Links for SDHAF4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SDHAF4

No disorders were found for SDHAF4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SDHAF4 Gene

Publications for SDHAF4 Gene

  1. SDHAF4 promotes mitochondrial succinate dehydrogenase activity and prevents neurodegeneration. (PMID: 24954416) Van Vranken J.G. … Rutter J. (Cell Metab. 2014) 2 3 4 64
  2. 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) 3 4 64
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for SDHAF4 Gene

Sources for SDHAF4 Gene

Content
Loading form....