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SDHA succinate dehydrogenase complex flavoprotein subunit A [ Homo sapiens (human) ]

Gene ID: 6389, updated on 11-Apr-2024

Summary

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Official Symbol
SDHAprovided by HGNC
Official Full Name
succinate dehydrogenase complex flavoprotein subunit Aprovided by HGNC
Primary source
HGNC:HGNC:10680
See related
Ensembl:ENSG00000073578 MIM:600857; AllianceGenome:HGNC:10680
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
FP; PGL5; SDH1; SDH2; SDHF; PPGL5; CMD1GG; MC2DN1; NDAXOA
Summary
This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Expression
Ubiquitous expression in heart (RPKM 63.7), kidney (RPKM 34.3) and 24 other tissues See more
Orthologs
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Genomic context

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See SDHA in Genome Data Viewer
Location:
5p15.33
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (218320..268746)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (209363..254841)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (218435..257197)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900929 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:207882-208207 Neighboring gene leucine rich repeat containing 14B Neighboring gene coiled-coil domain containing 127 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:218445-219253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:270110-270802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15861 Neighboring gene PDCD6-AHRR readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:278988-279488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:279489-279989 Neighboring gene PDCD6 divergent transcript Neighboring gene programmed cell death 6 Neighboring gene PPP4R2 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update. Schipani A, et al. Genes (Basel), 2023 Mar 4. PMID 36980917, Free PMC Article
  2. PIKE-A Modulates Mitochondrial Metabolism through Increasing SDHA Expression Mediated by STAT3/FTO Axis. Sun M, et al. Int J Mol Sci, 2022 Sep 25. PMID 36232604, Free PMC Article
  3. Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma. Kamai T, et al. Cancer Sci, 2021 Aug. PMID 34014604, Free PMC Article
  4. Upregulation of SDHA inhibited proliferation, migration, and invasion of clear cell renal cell carcinoma cells via inactivation of the Wnt/β-catenin pathway. Xu X, et al. J Recept Signal Transduct Res, 2022 Apr. PMID 33602019
  5. A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment. Zehavi Y, et al. Metab Brain Dis, 2021 Apr. PMID 33471299

See all (215) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
    Title: SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
  2. PIKE-A Modulates Mitochondrial Metabolism through Increasing SDHA Expression Mediated by STAT3/FTO Axis.
    Title: PIKE-A Modulates Mitochondrial Metabolism through Increasing SDHA Expression Mediated by STAT3/FTO Axis.
  3. Upregulation of SDHA inhibited proliferation, migration, and invasion of clear cell renal cell carcinoma cells via inactivation of the Wnt/beta-catenin pathway.
    Title: Upregulation of SDHA inhibited proliferation, migration, and invasion of clear cell renal cell carcinoma cells via inactivation of the Wnt/β-catenin pathway.
  4. Subcellular Proteome Analysis Reveals Apoptotic Vulnerability of T-Cell Acute Lymphoblastic Leukemia.
    Title: Subcellular Proteome Analysis Reveals Apoptotic Vulnerability of T-Cell Acute Lymphoblastic Leukemia.
  5. Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
    Title: Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
  6. A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
    Title: A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
  7. Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.
    Title: Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.
  8. Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.
    Title: Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.
  9. The genetic basis of isolated mitochondrial complex II deficiency.
    Title: The genetic basis of isolated mitochondrial complex II deficiency.
  10. Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.
    Title: Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.
Submit: New GeneRIF Correction See all GeneRIFs (62)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef is identified to have a physical interaction with succinate dehydrogenase complex, subunit A, flavoprotein (SDHA) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of succinate dehydrogenase complex, subunit A (SDHA) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

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 electron transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables succinate dehydrogenase (quinone) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables succinate dehydrogenase (quinone) activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
contributes_to succinate dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitochondrial electron transport, succinate to ubiquinone IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial electron transport, succinate to ubiquinone NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in nervous system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in proton motive force-driven mitochondrial ATP synthesis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in respiratory electron transport chain IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in succinate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tricarboxylic acid cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in tricarboxylic acid cycle NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in tricarboxylic acid cycle TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
part_of mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) NAS
Non-traceable Author Statement
more info
 PubMed 
part_of mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) TAS
Traceable Author Statement
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
Names
flavoprotein subunit of complex II
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
NP_001281261.1
NP_001317687.1
NP_004159.2
XP_011512374.1
XP_011512375.1
XP_047273423.1
XP_054209018.1
XP_054209019.1
XP_054209020.1

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_012339.1 RefSeqGene

    Range
    5080..43842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_315

mRNA and Protein(s)

  1. NM_001294332.2 → NP_001281261.1  succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC021087, AK291311, AK295937, DA160919, HY265959
    Consensus CDS
    CCDS77992.1
    UniProtKB/TrEMBL
    Q0QF12
    Related
    ENSP00000427703.1, ENST00000510361.5
    Conserved Domains (3) summary
    PTZ00139
    Location:40 → 616
    PTZ00139; Succinate dehydrogenase [ubiquinone] flavoprotein subunit; Provisional
    pfam02910
    Location:467 → 616
    Succ_DH_flav_C; Fumarate reductase flavoprotein C-term
    cl21454
    Location:104 → 423
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  2. NM_001330758.2 → NP_001317687.1  succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC021087
    Consensus CDS
    CCDS82985.1
    UniProtKB/TrEMBL
    D6RFM5
    Related
    ENSP00000426514.1, ENST00000504309.5
    Conserved Domains (3) summary
    PTZ00139
    Location:40 → 583
    PTZ00139; Succinate dehydrogenase [ubiquinone] flavoprotein subunit; Provisional
    pfam02910
    Location:539 → 583
    Succ_DH_flav_C; Fumarate reductase flavoprotein C-term
    cl21454
    Location:85 → 471
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  3. NM_004168.4 → NP_004159.2  succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_004159.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC021087, AK291311, BC001380, DA160919, HY265959
    Consensus CDS
    CCDS3853.1
    UniProtKB/Swiss-Prot
    A8K5J6, B4DJ60, E9PBJ5, P31040, Q16395, Q59GW8, Q8IW48, Q9UMY5
    UniProtKB/TrEMBL
    Q0QF12
    Related
    ENSP00000264932.6, ENST00000264932.11
    Conserved Domains (1) summary
    PTZ00139
    Location:40 → 664
    PTZ00139; Succinate dehydrogenase [ubiquinone] flavoprotein subunit; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    218320..268746
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514072.3 → XP_011512374.1  succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform X1

    UniProtKB/TrEMBL
    Q0QF12
    Conserved Domains (3) summary
    PTZ00139
    Location:40 → 636
    PTZ00139; Succinate dehydrogenase [ubiquinone] flavoprotein subunit; Provisional
    pfam02910
    Location:515 → 635
    Succ_DH_flav_C; Fumarate reductase flavoprotein C-term
    cl21454
    Location:85 → 471
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  2. XM_011514073.3 → XP_011512375.1  succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform X3

    Conserved Domains (2) summary
    TIGR01816
    Location:80 → 555
    sdhA_forward; succinate dehydrogenase, flavoprotein subunit, E. coli/mitochondrial subgroup
    cl21454
    Location:85 → 471
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  3. XM_047417467.1 → XP_047273423.1  succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform X2

RNA

  1. XR_007058614.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    209363..254841
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353043.1 → XP_054209018.1  succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform X1

  2. XM_054353045.1 → XP_054209020.1  succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform X3

  3. XM_054353044.1 → XP_054209019.1  succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P31040.2 GenPept UniProtKB/Swiss-Prot:P31040

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