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    SDHAF1 succinate dehydrogenase complex assembly factor 1 [ Homo sapiens (human) ]

    Gene ID: 644096, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SDHAF1provided by HGNC
    Official Full Name
    succinate dehydrogenase complex assembly factor 1provided by HGNC
    Primary source
    HGNC:HGNC:33867
    See related
    Ensembl:ENSG00000205138 MIM:612848; AllianceGenome:HGNC:33867
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LYRM8; MC2DN2
    Summary
    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]
    Orthologs
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    Genomic context

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    See SDHAF1 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35995188..35996312)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38540986..38542110)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36486090..36487214)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene leucine rich repeat and fibronectin type III domain containing 3 Neighboring gene uncharacterized LOC105372383 Neighboring gene Sharpr-MPRA regulatory region 3529 Neighboring gene Sharpr-MPRA regulatory region 1826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14510 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:36453209-36453373 Neighboring gene MPRA-validated peak3453 silencer Neighboring gene MPRA-validated peak3454 silencer Neighboring gene MPRA-validated peak3455 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36485053-36485552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36498887-36499428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36499429-36499968 Neighboring gene spectrin repeat containing nuclear envelope family member 4 Neighboring gene alkB homolog 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. Ohlenbusch A, et al. Orphanet J Rare Dis, 2012 Sep 20. PMID 22995659, Free PMC Article
    2. Impact of a polymorphism in the IL-12p40 gene on the outcome of kidney transplantation. Hoffmann TW, et al. Transplant Proc, 2009 Mar. PMID 19328947
    3. Parallel functional assessment of m(6)A sites in human endodermal differentiation with base editor screens. Cheng W, et al. Nat Commun, 2022 Jan 25. PMID 35078991, Free PMC Article
    4. SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Ghezzi D, et al. Nat Genet, 2009 Jun. PMID 19465911
    5. Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB. Maio N, et al. Cell Metab, 2016 Feb 9. PMID 26749241, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Parallel functional assessment of m(6)A sites in human endodermal differentiation with base editor screens.
      Title: Parallel functional assessment of m(6)A sites in human endodermal differentiation with base editor screens.
    2. that SDHAF1 contributes to iron-sulfur (Fe-S) cluster incorporation into the Fe-S subunit of CII, SDHB.
      Title: Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.
    3. Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade.
      Title: The role of complex II in disease.
    4. Leukoencephalopathy with accumulated succinate is a key symptom of defective complex II assembly due to SDHAF1 mutations
      Title: Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial complex 2 deficiency, nuclear type 2
    MedGen: C5436933 OMIM: 619166 GeneReviews: Not available
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    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial respiratory chain complex II assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex II assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    succinate dehydrogenase assembly factor 1, mitochondrial
    Names
    LYR motif containing 8
    LYR motif-containing protein 8
    SDH assembly factor 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016869.2 RefSeqGene

      Range
      5002..6126
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042631.3 → NP_001036096.2  succinate dehydrogenase assembly factor 1, mitochondrial

      Status: REVIEWED

      Source sequence(s)
      AF038458, BC007205, BM695501
      Consensus CDS
      CCDS32999.1
      UniProtKB/Swiss-Prot
      A6NFY7, B2RPM7
      Related
      ENSP00000368165.2, ENST00000378887.4
      Conserved Domains (1) summary
      cd20268
      Location:5 → 63
      Complex1_LYR_SDHAF1_LYRM8; LYR (leucine-tyrosine-arginine) motif found in mitochondrial succinate dehydrogenase assembly factor 1 (SDHAF1) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      35995188..35996312
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      38540986..38542110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NFY7.1 GenPept UniProtKB/Swiss-Prot:A6NFY7

    Gene LinkOut

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