U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 6389, updated on 3-Nov-2024

Summary

Go to the top of the page Help
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See SDHA in Genome Data Viewer
Location:
5p15.33
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (218320..268746)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (209363..254841)
RS_2024_09 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues 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

Go to the top of the pageHelp

Related articles in PubMed

  1. SDHA mutated paragangliomas may be at high risk of metastasis. Tufton N, et al. Endocr Relat Cancer, 2017 Jul. PMID 28500238
  2. SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update. Schipani A, et al. Genes (Basel), 2023 Mar 4. PMID 36980917, Free PMC Article
  3. SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors. Oudijk L, et al. Mod Pathol, 2013 Mar. PMID 23174939
  4. Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations. Pantaleo MA, et al. Genet Med, 2015 May. PMID 25188872
  5. 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

See all (249) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.
    Title: SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.
  2. Succinate dehydrogenase A deficient renal cell carcinoma: A rare renal tumor distinct from typical Succinate dehydrogenase deficient renal cell carcinoma.
    Title: Succinate dehydrogenase A deficient renal cell carcinoma: A rare renal tumor distinct from typical Succinate dehydrogenase deficient renal cell carcinoma.
  3. SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
    Title: SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (64)

Phenotypes

Go to the top of the page Help

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
Dilated cardiomyopathy 1GG
MedGen: C3150898 OMIM: 613642 GeneReviews: Not available
not available
Mitochondrial complex II deficiency, nuclear type 1
MedGen: C5700310 OMIM: 252011 GeneReviews: Not available
not available
Neurodegeneration with ataxia and late-onset optic atrophy
MedGen: C5543254 OMIM: 619259 GeneReviews: Not available
not available
Paragangliomas 5
MedGen: C3279992 OMIM: 614165 GeneReviews: Hereditary Paraganglioma-Pheochromocytoma Syndromes
not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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
  
contributes_to succinate dehydrogenase (quinone) activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables succinate dehydrogenase (quinone) 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 matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
part_of respiratory chain complex II (succinate dehydrogenase) IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of respiratory chain complex II (succinate dehydrogenase) IDA
Inferred from Direct Assay
more info
 PubMed 
part_of respiratory chain complex II (succinate dehydrogenase) ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of respiratory chain complex II (succinate dehydrogenase) TAS
Traceable Author Statement
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
Names
flavoprotein subunit of complex II
malate dehydrogenase [quinone] flavoprotein subunit
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)

Go to the top of the page Help

NEW Try the new Transcript table

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_2024_08

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

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous