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Aliases for SDHAF1 Gene

Aliases for SDHAF1 Gene

  • Succinate Dehydrogenase Complex Assembly Factor 1 2 3 5
  • 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

Previous GeneCards Identifiers for SDHAF1 Gene

  • GC19P041178
  • GC19P036486
  • GC19P032991

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.

Additional gene information for SDHAF1 Gene

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

Genomics for SDHAF1 Gene

Regulatory Elements for SDHAF1 Gene

Enhancers for SDHAF1 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
GH19H035461 1.9 FANTOM5 Ensembl ENCODE dbSUPER 37.9 -532.2 -532237 1.9 HDGF PKNOX1 ZNF493 ZFP64 ZNF121 ATF7 KLF7 RUNX3 ZNF202 SP3 TMEM147-AS1 HAUS5 ZNF599 PROSER3 KMT2B RBM42 ZNF146 SDHAF1 ZNF792 ZFP82
GH19H035946 1.6 FANTOM5 Ensembl ENCODE 38.2 -47.8 -47796 0.8 HDGF ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF302 ZNF416 ZNF143 ZNF548 ZNF567 ZNF345 ZNF850 TMEM147-AS1 PROSER3 HAUS5 ZNF790 ZNF529 KMT2B ZNF790-AS1
GH19H035882 1.3 Ensembl ENCODE 38 -112.9 -112888 0.2 PKNOX1 ZNF493 ZFP64 ARID4B FEZF1 ZNF121 ZNF302 ZNF143 KLF7 RUNX3 TMEM147-AS1 ZNF345 ZNF567 HAUS5 ZNF850 KMT2B ZNF790 PROSER3 ZNF566 ZNF146
GH19H035322 1.3 ENCODE dbSUPER 37.9 -671.4 -671367 2.6 HDGF PKNOX1 ZNF493 ZFP64 ZNF121 ZNF302 ATF7 KLF7 ZNF548 RUNX3 TMEM147-AS1 HAUS5 ZNF599 KMT2B PROSER3 ZNF146 ZNF181 ZNF792 RBM42 ZNF30
GH19H035701 2 FANTOM5 Ensembl ENCODE dbSUPER 20.3 -292.6 -292588 1.6 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZNF416 ZNF143 ZNF548 FOS ZNF567 PROSER3 TMEM147-AS1 ZNF599 HAUS5 U2AF1L4 KMT2B ENSG00000267049 ZNF792 ZNF146
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SDHAF1 on UCSC Golden Path with GeneCards custom track

Promoters for SDHAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109098 112 1401 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Locations for SDHAF1 Gene

Genomic Locations for SDHAF1 Gene
chr19:35,995,188-35,996,318
(GRCh38/hg38)
Size:
1,131 bases
Orientation:
Plus strand
chr19:36,486,090-36,487,220
(GRCh37/hg19)

Genomic View for SDHAF1 Gene

Genes around SDHAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDHAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDHAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for SDHAF1 Gene

Gene Families for SDHAF1 Gene

Protein Domains for SDHAF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SDHAF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6NFY7

UniProtKB/Swiss-Prot:

SDHF1_HUMAN :
  • Belongs to the complex I LYR family. SDHAF1 subfamily.
Family:
  • Belongs to the complex I LYR family. SDHAF1 subfamily.
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.

Phenotypes From GWAS Catalog for SDHAF1 Gene

Gene Ontology (GO) - Molecular Function for SDHAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24606901
genes like me logo Genes that share ontologies with SDHAF1: view

Phenotypes for SDHAF1 Gene

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

Human Phenotype Ontology for SDHAF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
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 SDHAF1 gene
Compartment Confidence
mitochondrion 5
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SDHAF1 Gene

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

Pathways & Interactions 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: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 and SIGNOR curated interactions for SDHAF1 Gene

Drugs & Compounds for SDHAF1 Gene

No Compound Related Data Available

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for SDHAF1 Gene

Protein differential expression in normal tissues from HIPED for SDHAF1 Gene

This gene is overexpressed in Liver (22.0), Frontal cortex (17.6), Testis (13.2), and Fetal Brain (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SDHAF1 Gene



Protein tissue co-expression partners for SDHAF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SDHAF1 Gene:

SDHAF1

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.

Evidence on tissue expression from TISSUES for SDHAF1 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SDHAF1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
Thorax:
  • heart
  • heart valve
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SDHAF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SDHAF1 Gene

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 33 34
  • 98.55 (n)
dog
(Canis familiaris)
Mammalia SDHAF1 33
  • 85.22 (n)
-- 34
  • 81 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SDHAF1 33 34
  • 83.48 (n)
mouse
(Mus musculus)
Mammalia Sdhaf1 33 16 34
  • 80.58 (n)
oppossum
(Monodelphis domestica)
Mammalia SDHAF1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732873 33
  • 55.69 (n)
zebrafish
(Danio rerio)
Actinopterygii sdhaf1 33 34
  • 56.44 (n)
Species where no ortholog for SDHAF1 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)
  • 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
rs137853192 Pathogenic, Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] 35,995,443(+) GCCGC(C/G)GGCGG reference, missense
rs137853193 Pathogenic, Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] 35,995,438(+) GTACC(A/C/G)CCGCG reference, missense
rs768768823 Pathogenic 35,995,430(+) GAGTA(A/C)CTGTA reference, stop-gained
rs115204084 Likely benign 35,995,778(+) AGGGG(G/T)CCTAG utr-variant-3-prime
rs76336581 Likely benign 35,995,607(+) ACCCG(C/G)CCCGA reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv51n68 CNV loss 17160897

Variation tolerance for SDHAF1 Gene

Gene Damage Index Score: 0.48; 10.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SDHAF1 Gene

Human Gene Mutation Database (HGMD)
SDHAF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SDHAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDHAF1 Gene

Disorders for SDHAF1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SDHAF1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex ii deficiency
  • mitochondrial respiratory chain complex ii deficiency
mitochondrial respiratory chain complex ii deficiency, sdhaf1-related
  • sdhaf1-related succinate coq reductase deficiency
spastic quadriplegia
  • quadriplegic infantile cerebral palsy
quadriplegia
  • tetraplegia
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards

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. {ECO:0000269 PubMed:19465911}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SDHAF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SDHAF1
genes like me logo Genes that share disorders with SDHAF1: view

No data available for Genatlas for SDHAF1 Gene

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 (Nature genetics 2009) 2 3 4 60
  2. A Single Adaptable Cochaperone-Scaffold Complex Delivers Nascent Iron-Sulfur Clusters to Mammalian Respiratory Chain Complexes I-III. (PMID: 28380382) Maio N … Rouault TA (Cell metabolism 2017) 3 60
  3. Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB. (PMID: 26749241) Maio N … Rouault TA (Cell metabolism 2016) 3 60
  4. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 60
  5. Cochaperone binding to LYR motifs confers specificity of iron sulfur cluster delivery. (PMID: 24606901) Maio N … Rouault TA (Cell metabolism 2014) 3 60

Products for SDHAF1 Gene

Sources for SDHAF1 Gene

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