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

Gene ID: 644096, updated on 7-Jun-2020

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
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
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

Genomic context

See SDHAF1 in Genome Data Viewer
Location:
19q13.12
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35995188..35996312)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36486090..36487220)

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 1826 Neighboring gene spectrin repeat containing nuclear envelope family member 4 Neighboring gene alkB homolog 6

Genomic regions, transcripts, and products

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial respiratory chain complex II assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex II assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

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)

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_016869.1 RefSeqGene

    Range
    5001..6131
    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
    Related
    ENSP00000368165.2, ENST00000378887.3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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