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

    Gene ID: 644096, updated on 10-Dec-2024

    Summary

    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

    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

    Bibliography

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in mitochondrial matrix  
    located_in mitochondrion PubMed 
    is_active_in mitochondrion  
    located_in mitochondrion PubMed 
    located_in nucleoplasm  

    General protein information

    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_001042631.3NP_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:563
      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)
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