1: SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) [ Homo sapiens ]

GeneID: 6389 updated 4-Dec-2009

[Top][Help]Summary

Official Symbol
SDHAprovided by HGNC
Official Full Name
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)provided by HGNC
Primary Source
HGNC:10680
See related
Ensembl:ENSG00000073578; HPRD:02914; MIM:600857
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; SDH1; SDH2; SDHF; SDHA
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. [provided by RefSeq]

[Top][Help]Genomic regions, transcripts, and products

(plus) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Genomic context

chromosome: 5; Location: 5p15See SDHA in MapViewer

[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. Phosphorylation of flavoprotein subunit ofsuccinate-ubiquinone reductase might be important for maintaining mitochondrial energy metabolism within the tumor microenvironment.
PubMed 2. Observational study of gene-disease association. (HuGE Navigator)
PubMed 3. Review. Succinate dehydrogenase catalyses a step in the Krebs tricarboxylic-acid cycle. Inherited heterozygous mutations in the gene encoding this enzyme causes a predisposition to inherited neoplasia syndromes.
PubMed 4. The SDHA variants that have increased in frequency during human evolution might, by influencing the regulation of cellular oxygen homeostasis, confer protection against certain environmental toxins or pathogens that are prevalent in Africa.

[Top][Help]General gene information

Markers

G33146(e-PCR)
Links: UniSTS:20269
A002R37(e-PCR)
Links: UniSTS:63069
PMC152246P1(e-PCR)
Links: UniSTS:271203
STS-L21936(e-PCR)
Links: UniSTS:34691
RH124597(e-PCR)
Links: UniSTS:161419
PMC153210P1(e-PCR)
Links: UniSTS:271251
SDHA_2868(e-PCR)
Links: UniSTS:462515
RH125423(e-PCR)
Links: UniSTS:162245
PMC126239P2(e-PCR)
Links: UniSTS:270534
RH63773(e-PCR)
Links: UniSTS:84722

Phenotypes

Leigh syndrome
MIM: 256000
Mitochondrial respiratory chain complex II deficiency
MIM: 252011

Related pseudogene(s)

4 foundReview record(s) in Gene

Homology

Homologs of the SDHA gene The SDHA gene is conserved in chimpanzee, dog, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.pombe, S.cerevisiae, K.lactis, E.gossypii, M.grisea, N.crassa, A.thaliana, and P.falciparum.


Map Viewer (Mouse, Rat)

Pathways

KEGG pathway: Alzheimer's disease
05010
KEGG pathway: Citrate cycle (TCA cycle)
00020
KEGG pathway: Huntington's disease
05016
KEGG pathway: Metabolic pathways
01100
KEGG pathway: Oxidative phosphorylation
00190
KEGG pathway: Parkinson's disease
05012
Reactome Event:Diabetes pathways
REACT_15380
Reactome Event:Electron Transport Chain
REACT_6305
Reactome Event:Integration of energy metabolism
REACT_1505
Reactome Event:Pyruvate metabolism and TCA cycle
REACT_1046

[Top][Help]General protein information

Preferred Names
succinate dehydrogenase complex, subunit A, flavoprotein
Names
succinate dehydrogenase complex, subunit A, flavoprotein
succinate dehydrogenase complex flavoprotein subunit
NP_004159.2
EC 1.3.5.1

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

Genomic

  1. NG_012339.1 RefSeqGene

    Range
    5000..43459
    Download
    GenBank FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004168.2NP_004159.2  succinate dehydrogenase complex, subunit A, flavoprotein precursor

    Source sequence(s)
    BC001380,CA427314,D30648,DA160919
    Consensus CDS
    CCDS3853.1
    UniProtKB/Swiss-Prot
    P31040
    Related Ensembl
    ENSP00000264932, ENST00000264932
    Conserved Domains (3) summary
    pfam02910
    Location:512664
    Blast Score: 523
    Succ_DH_flav_C; Fumarate reductase/succinate dehydrogenase flavoprotein C-terminal domain
    PTZ00139
    Location:53664
    Blast Score: 2780
    PTZ00139; succinate dehydrogenase (flavoprotein) subunit; Provisional
    cl11411
    Location:85471
    Blast Score: 591
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase

RefSeqs of Annotated Genomes: Build 37.1

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

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000005.9

    Range
    218355..256814
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NT_006576.16 

    Range
    208355..246814
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000048.1

    Range
    317917..356376
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_922496.1 

    Range
    205845..244304
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000137.1

    Range
    208246..246713, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_001838923.2 

    Range
    1876257..1914724, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AC021087.5  (73920..112265)   None
  genomic   AF171017.1   AAD51006.1
  genomic   CH471235.1   EAW50982.1
       EAW50983.1
       EAW50984.1
  genomic   S79641.1   AAB35332.1
  mRNA   AB208991.1   BAD92228.1
  mRNA   AK094879.1   BAG52946.1
  mRNA   AK131350.1   BAG54767.1
  mRNA   AK131478.1   None
  mRNA   AK225027.1   None
  mRNA   AK291311.1   BAF84000.1
  mRNA   AK295937.1   BAG58722.1
  mRNA   AK302524.1   BAG63797.1
  mRNA   BC001380.2   AAH01380.1
  mRNA   BC004328.1   None
  mRNA   BC041016.1   AAH41016.1
  mRNA   CA427314.1   None
  mRNA   CR592508.1   None
  mRNA   CR616767.1   None
  mRNA   CR624138.1   None
  mRNA   D30648.1   BAA06332.1
  mRNA   DA160919.1   None
  mRNA   DQ402982.1   ABD77315.1
  mRNA   L21936.1   AAA20683.1
Protein Accession   Links
P31040.2   GenPept   UniProtKB/Swiss-Prot:P31040
Q0QF12   GenPept   UniProtKB/TrEMBL:Q0QF12
Q59GW8   GenPept   UniProtKB/TrEMBL:Q59GW8
Q8IW48   GenPept   UniProtKB/TrEMBL:Q8IW48

[Top][Help]Additional Links