Seroatlas · Human Serome Atlas

SDHAF1

Succinate dehydrogenase assembly factor 1, mitochondrial

Also known as: LYRM8, SDHF1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
A6NFY7
Gene
SDHAF1
Ensembl
ENSG00000205138
Chromosome
19
Canonical length
115 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

115 residues, UniProt reviewed canonical sequence.

>A6NFY7|SDHAF1
     1  MSRHSRLQRQ VLSLYRDLLR AGRGKPGAEA RVRAEFRQHA GLPRSDVLRI EYLYRRGRRQ
    61  LQLLRSGHAT AMGAFVRPRA PTGEPGGVGC QPDDGDSPRN PHDSTGAPET RPDGR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SDHAF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.51
Highest tissue expression
32 nTPM

Expression across tissuesHPA

Tissue

  • liver: 32 nTPM
  • cerebellum: 30 nTPM
  • pancreas: 24 nTPM
  • choroid plexus: 23 nTPM
  • cerebral cortex: 21 nTPM
  • colon: 20 nTPM

Single-cell type

  • enterocytes: 47 nCPM
  • extravillous trophoblasts: 45 nCPM
  • esophageal suprabasal cells: 45 nCPM
  • esophageal basal cells: 43 nCPM
  • megakaryocytes: 37 nCPM
  • epididymal principal cells: 36 nCPM

Immune cell

  • NK-cell: 58 nTPM
  • eosinophil: 55 nTPM
  • T-reg: 50 nTPM
  • naive CD4 T-cell: 48 nTPM
  • naive B-cell: 47 nTPM
  • non-classical monocyte: 46 nTPM

Brain region

  • white matter: 25 nTPM
  • cerebellum: 25 nTPM
  • pons: 22 nTPM
  • medulla oblongata: 21 nTPM
  • spinal cord: 20 nTPM
  • basal ganglia: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SDHAF1.

Disease | AllUniProt

Conditions SDHAF1 is implicated in, by any mechanism.

  • Mitochondrial complex II deficiency, nuclear type 2 (MC2DN2) MIM:619166

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 87 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.9
gnomAD pLI
0.09
gnomAD missense Z
0.38
DepMap mean gene effect
-0.26
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SDHAF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SDHAF1 as an antibody target. Whether an autoantibody or antibody against SDHAF1 could matter depends on whether native SDHAF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SDHAF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SDHAF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SDHAF1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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