Aliases for SDHAF4 Gene

Aliases for SDHAF4 Gene

  • Succinate Dehydrogenase Complex Assembly Factor 4 2 3 5
  • Succinate Dehydrogenase Assembly Factor 4, Mitochondrial 3 4
  • SDH Assembly Factor 4 3 4
  • C6orf57 3 4
  • 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 Summary 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).

Additional gene information for SDHAF4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SDHAF4 Gene

Genomics for SDHAF4 Gene

GeneHancer (GH) Regulatory Elements for SDHAF4 Gene

Promoters and enhancers for SDHAF4 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
GH06J070566 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 508.7 +0.4 405 2.2 ZNF217 EP300 SIN3A NRF1 POLR2G PHF8 ZFX ZIC2 POLR2A ZBTB11 SDHAF4 HSALNG0051143 ENSG00000237643
GH06J070567 Promoter 0.9 Ensembl 500.7 -0.8 -816 0.2 MYC TRIM25 NCOR1 TBP BCOR TAL1 ZNF395 ZNF318 CBX1 HDAC2 SDHAF4 RF00994-912
GH06J070666 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 +101.4 101377 3 HNRNPK ZNF217 EP300 SIN3A NRF1 POLR2G PHF8 TEAD4 ZFX POLR2A SMAP1 SDHAF4 B3GAT2 piR-61861-021
GH06J070410 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.4 -153.3 -153291 5.3 ZBTB40 ZSCAN5C NRF1 POLR2G SP1 GTF2E2 PHF8 JUND ZNF10 SIX5 FAM135A FAM135A-AS1 lnc-SDHAF4-1 ENSG00000237643 SDHAF4 lnc-FAM135A-3
GH06J070537 Enhancer 0.7 Ensembl 17.4 -28.5 -28517 2.8 BCL11A ZNF384 MEF2B SPI1 BATF IRF4 NFATC3 TBX21 JUNB ZNF217 SDHAF4 RNU7-48P ENSG00000237643 RF00994-912 FAM135A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SDHAF4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SDHAF4

Genomic Locations for SDHAF4 Gene

Genomic Locations for SDHAF4 Gene
chr6:70,566,917-70,589,569
(GRCh38/hg38)
Size:
22,653 bases
Orientation:
Plus strand
chr6:71,276,620-71,299,272
(GRCh37/hg19)
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 StructureGene Density

RefSeq DNA sequence for SDHAF4 Gene

Proteins for SDHAF4 Gene

  • 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

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

Protein Domains for SDHAF4 Gene

Blocks:
  • Protein of unknown function DUF1674
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SDHAF4 Gene

GenScript: Design optimal peptide antigens:
  • UPF0369 protein C6orf57 (CF057_HUMAN)

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

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).

Phenotypes From GWAS Catalog for SDHAF4 Gene

Gene Ontology (GO) - Molecular Function for SDHAF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008177 contributes_to succinate dehydrogenase (ubiquinone) activity ISS,IEA 24954416
genes like me logo Genes that share ontologies with SDHAF4: view
genes like me logo Genes that share phenotypes with SDHAF4: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for SDHAF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA --
GO:0005749 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) ISS 24954416
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with SDHAF4: view

Pathways & Interactions for SDHAF4 Gene

PathCards logo

SuperPathways for SDHAF4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SDHAF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003407 neural retina development IGI 24954416
GO:0034553 mitochondrial respiratory chain complex II assembly IEA,IGI 24954416
GO:0045087 innate immune response IEA --
GO:0045333 cellular respiration IGI,IEA 24954416
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

No Compound Related Data Available

Transcripts for SDHAF4 Gene

mRNA/cDNA for SDHAF4 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for SDHAF4 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SDHAF4

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

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 31
  • 100 (a)
OneToOne
C6H6orf57 30
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia C12H6orf57 30
  • 88.47 (n)
C6ORF57 31
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C9H6orf57 30
  • 82.61 (n)
MGC137021 31
  • 53 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1110058L19Rik 31 30
  • 79.85 (n)
OneToOne
Sdhaf4 17
rat
(Rattus norvegicus)
Mammalia LOC685888 30
  • 78.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C6orf57 31
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C6orf57 31
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves C6ORF57 30
  • 69.6 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 58 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c6orf57 30
  • 63.45 (n)
zebrafish
(Danio rerio)
Actinopterygii si:busm1-265n4.4 30
  • 63.53 (n)
C13H6orf57 31
  • 53 (a)
OneToOne
Dr.16925 30
fruit fly
(Drosophila melanogaster)
Insecta CG7224 31
  • 30 (a)
OneToMany
CG15283 31
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W02D3.12 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SDHAF4: view image

Paralogs for SDHAF4 Gene

No data available for Paralogs for SDHAF4 Gene

Variants for SDHAF4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SDHAF4 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs1048886 - p.Gln46Arg
rs34711085 - p.Arg57Cys

Additional dbSNP identifiers (rs#s) for SDHAF4 Gene

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)

Additional Variant Information 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

Additional Disease Information for 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 JG … Rutter J (Cell metabolism 2014) 2 3 4 54
  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 54
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 54

Products for SDHAF4 Gene

Sources for SDHAF4 Gene