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

Gene ID: 644096, updated on 2-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 Variation Viewer (GRCh37.p13)

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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