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

Summary

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
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.
Title: SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.
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.
SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
Title: SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
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.
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.
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.
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.
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.
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.
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

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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
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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G33146 (e-PCR)
- UniSTS:20269

A002R37 (e-PCR)
- UniSTS:63069

PMC152246P1 (e-PCR)
- UniSTS:271203

STS-L21936 (e-PCR)
- UniSTS:34691

RH124597 (e-PCR)
- UniSTS:161419

PMC153210P1 (e-PCR)
- UniSTS:271251

RH125423 (e-PCR)
- UniSTS:162245

PMC126239P2 (e-PCR)
- UniSTS:270534

RH63773 (e-PCR)
- UniSTS:84722

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 more info	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

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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

EC 1.3.5.1

NP_001317687.1

EC 1.3.5.1

NP_004159.2

EC 1.3.5.1

XP_011512374.1

EC 1.3.5.1

XP_011512375.1

EC 1.3.5.1

XP_047273423.1

EC 1.3.5.1

XP_054209018.1

EC 1.3.5.1

XP_054209019.1

EC 1.3.5.1

XP_054209020.1

EC 1.3.5.1

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

NG_012339.1 RefSeqGene

Range

5080..43842

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_315

mRNA and Protein(s)

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
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
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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

218320..268746

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

RNA

XR_007058614.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

209363..254841

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054353043.1 → XP_054209018.1 succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform X1
XM_054353045.1 → XP_054209020.1 succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform X3
XM_054353044.1 → XP_054209019.1 succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform X2