Details for: SDHA

Gene ID: 6389

Symbol: SDHA

Ensembl ID: ENSG00000073578

Description: succinate dehydrogenase complex flavoprotein subunit A

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 257.5457
    Cell Significance Index: -40.0600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 155.5333
    Cell Significance Index: -39.4500
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 111.1064
    Cell Significance Index: -45.7700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 101.9544
    Cell Significance Index: -48.1400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 101.3644
    Cell Significance Index: -41.1800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 93.7041
    Cell Significance Index: -48.2000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 43.4672
    Cell Significance Index: -41.5000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 38.0792
    Cell Significance Index: -46.9500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 13.7708
    Cell Significance Index: -36.8900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.3161
    Cell Significance Index: -48.6000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 11.1576
    Cell Significance Index: -34.2700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.5420
    Cell Significance Index: -18.7000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.4854
    Cell Significance Index: 715.1200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.4552
    Cell Significance Index: 128.9100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.6152
    Cell Significance Index: 123.9500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.5202
    Cell Significance Index: 91.2700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.4301
    Cell Significance Index: 98.9000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2720
    Cell Significance Index: 206.8800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2358
    Cell Significance Index: 247.9000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.1569
    Cell Significance Index: 31.4900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.0312
    Cell Significance Index: 204.6400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.9490
    Cell Significance Index: 14.0100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.8412
    Cell Significance Index: 22.4600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.8333
    Cell Significance Index: 52.5200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8203
    Cell Significance Index: 448.0000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8086
    Cell Significance Index: 99.4300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8016
    Cell Significance Index: 41.6400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7985
    Cell Significance Index: 17.3000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7106
    Cell Significance Index: 128.0900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.6936
    Cell Significance Index: 44.7500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6877
    Cell Significance Index: 246.6800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6750
    Cell Significance Index: 92.6900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.6168
    Cell Significance Index: 32.1300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.4910
    Cell Significance Index: 12.9100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4800
    Cell Significance Index: 22.3800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.4794
    Cell Significance Index: 14.0800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4337
    Cell Significance Index: 12.5000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4254
    Cell Significance Index: 80.9500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.4136
    Cell Significance Index: 4.9300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4065
    Cell Significance Index: 179.7400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3634
    Cell Significance Index: 46.5800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3545
    Cell Significance Index: 16.0700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.3517
    Cell Significance Index: 5.9300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2784
    Cell Significance Index: 32.8300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2715
    Cell Significance Index: 35.0800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2389
    Cell Significance Index: 17.8100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.2334
    Cell Significance Index: 6.6900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2057
    Cell Significance Index: 14.5500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1996
    Cell Significance Index: 9.3800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1950
    Cell Significance Index: 176.0900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1702
    Cell Significance Index: 16.8400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1532
    Cell Significance Index: 26.1600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1010
    Cell Significance Index: 3.5100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0871
    Cell Significance Index: 3.0600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0720
    Cell Significance Index: 52.8200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0028
    Cell Significance Index: 0.1700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0141
    Cell Significance Index: -10.4600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0157
    Cell Significance Index: -9.8200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0259
    Cell Significance Index: -48.6900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0281
    Cell Significance Index: -21.2600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0295
    Cell Significance Index: -54.4300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0315
    Cell Significance Index: -0.8800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0329
    Cell Significance Index: -1.0600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0354
    Cell Significance Index: -54.5700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0386
    Cell Significance Index: -3.9400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0402
    Cell Significance Index: -54.7200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0519
    Cell Significance Index: -29.2900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0709
    Cell Significance Index: -45.0600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0748
    Cell Significance Index: -4.2000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1064
    Cell Significance Index: -48.2700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1157
    Cell Significance Index: -24.3700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1168
    Cell Significance Index: -1.9600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1230
    Cell Significance Index: -14.0900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1448
    Cell Significance Index: -3.0300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1745
    Cell Significance Index: -4.6800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2129
    Cell Significance Index: -24.8100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2130
    Cell Significance Index: -9.4200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2719
    Cell Significance Index: -2.8200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2763
    Cell Significance Index: -31.5400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2772
    Cell Significance Index: -4.7500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2914
    Cell Significance Index: -11.0400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3030
    Cell Significance Index: -4.5400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3080
    Cell Significance Index: -3.8200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3323
    Cell Significance Index: -48.3100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3350
    Cell Significance Index: -26.5300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3613
    Cell Significance Index: -9.2300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3780
    Cell Significance Index: -10.1100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3864
    Cell Significance Index: -8.2300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.4496
    Cell Significance Index: -10.9700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4694
    Cell Significance Index: -48.8800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5175
    Cell Significance Index: -7.0600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.5501
    Cell Significance Index: -8.1200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.6177
    Cell Significance Index: -14.2700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6704
    Cell Significance Index: -41.1000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.6751
    Cell Significance Index: -5.3900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.7029
    Cell Significance Index: -17.5700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.7194
    Cell Significance Index: -48.3700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.7322
    Cell Significance Index: -14.2900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.7508
    Cell Significance Index: -37.9500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.7732
    Cell Significance Index: -6.3100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The SDHA gene is a mitochondrial gene, with its primary function being the production of the SDHA protein, which is a subunit of the SDH complex. SDHA is a flavoprotein, containing a flavin adenine dinucleotide (FAD) cofactor that is essential for the enzyme's catalytic activity. The SDHA protein is a transmembrane protein, embedded in the inner mitochondrial membrane, where it plays a critical role in the electron transport chain. The SDHA gene exhibits a high degree of tissue specificity, with its expression being highest in cardiac myocytes, enterocytes, and placental villous trophoblasts. This suggests that the SDHA protein plays a vital role in maintaining the energy homeostasis of these tissues, particularly during periods of high energy demand. **Pathways and Functions** The SDHA gene is involved in several key metabolic pathways, including: 1. **Citric Acid Cycle (TCA Cycle)**: The SDHA protein is a critical component of the TCA cycle, where it catalyzes the conversion of succinate to fumarate, generating electrons that are passed through the electron transport chain. 2. **Electron Transfer Activity**: SDHA is a key player in the electron transport chain, where it facilitates the transfer of electrons from succinate to ubiquinone, ultimately contributing to the production of ATP. 3. **Flavin Adenine Dinucleotide Binding**: The SDHA protein contains a FAD cofactor, which is essential for its catalytic activity. 4. **Metabolism**: SDHA is involved in the metabolism of various substrates, including succinate, which is converted to fumarate through the action of the SDH complex. **Clinical Significance** Dysregulation of the SDHA gene has been implicated in various diseases, including: 1. **Mitochondrial Myopathies**: Mutations in the SDHA gene have been associated with mitochondrial myopathies, such as MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes) and Kearns-Sayre syndrome. 2. **Cancer**: Alterations in the SDHA gene have been observed in various types of cancer, including breast, lung, and colon cancer. 3. **Neurodegenerative Diseases**: SDHA has been implicated in the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. In conclusion, the SDHA gene plays a critical role in maintaining cellular energy homeostasis, particularly in tissues with high energy demands. Dysregulation of the SDHA gene has been implicated in various diseases, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 2260173416

Symbol: SDHA_HUMAN

Name: Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial

UniProtKB Accession Codes:

P31040 A8K5J6 B4DJ60 E9PBJ5 Q16395 Q59GW8 Q8IW48 Q9UMY5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CPTAC 1 CTD 1 ChEBI 30 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 DrugCentral 1 EC 1 EMBL 25 EMDB 1 Ensembl 2 ExpressionAtlas 1 GO 15 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 11 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 2 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 2 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 3 RefSeq 2 Rhea 5 SIGNOR 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7798181

Title: Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the flavoprotein (Fp) subunit of liver mitochondria.

PubMed ID: 7798181

DOI: 10.1093/oxfordjournals.jbchem.a124497

PubMed ID: 8142412

Title: The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase.

PubMed ID: 8142412

DOI: 10.1016/0005-2728(94)90203-8

PubMed ID: 10746566

Title: Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

PubMed ID: 10746566

DOI: 10.1007/s004390051033

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7550341

Title: Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.

PubMed ID: 7550341

DOI: 10.1038/ng1095-144

PubMed ID: 15242332

Title: Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes.

PubMed ID: 15242332

DOI: 10.1042/bj20040647

PubMed ID: 19628817

Title: SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.

PubMed ID: 19628817

DOI: 10.1126/science.1175689

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20484225

Title: SDHA is a tumor suppressor gene causing paraganglioma.

PubMed ID: 20484225

DOI: 10.1093/hmg/ddq206

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22823520

Title: Mitochondrial c-Src regulates cell survival through phosphorylation of respiratory chain components.

PubMed ID: 22823520

DOI: 10.1042/bj20120509

PubMed ID: 23747254

Title: The mitochondrial chaperone TRAP1 promotes neoplastic growth by inhibiting succinate dehydrogenase.

PubMed ID: 23747254

DOI: 10.1016/j.cmet.2013.04.019

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 28593945

Title: Human LACC1 increases innate receptor-induced responses and a LACC1 disease-risk variant modulates these outcomes.

PubMed ID: 28593945

DOI: 10.1038/ncomms15614

PubMed ID: 32887801

Title: The roles of SDHAF2 and dicarboxylate in covalent flavinylation of SDHA, the human complex II flavoprotein.

PubMed ID: 32887801

DOI: 10.1073/pnas.2007391117

PubMed ID: 37098072

Title: Structure of the human respiratory complex II.

PubMed ID: 37098072

DOI: 10.1073/pnas.2216713120

PubMed ID: 10976639

Title: Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene.

PubMed ID: 10976639

DOI: 10.1002/1531-8249(200009)48:3<330::aid-ana7>3.3.co;2-1

PubMed ID: 12794685

Title: Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.

PubMed ID: 12794685

DOI: 10.1002/ajmg.a.10202

PubMed ID: 20551992

Title: Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.

PubMed ID: 20551992

DOI: 10.1038/ejhg.2010.83

PubMed ID: 24781757

Title: SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

PubMed ID: 24781757

DOI: 10.1038/ejhg.2014.80

PubMed ID: 22972948

Title: Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

PubMed ID: 22972948

DOI: 10.1136/jmedgenet-2012-101146

PubMed ID: 26642834

Title: Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

PubMed ID: 26642834

DOI: 10.1002/ana.24572

PubMed ID: 27683074

Title: SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.

PubMed ID: 27683074

DOI: 10.1002/ajmg.a.37986

Sequence Information:

  • Length: 664
  • Mass: 72692
  • Checksum: 180B664E3FFD0B34
  • Sequence:
    • MSGVRGLSRL LSARRLALAK AWPTVLQTGT RGFHFTVDGN KRASAKVSDS ISAQYPVVDH 
EFDAVVVGAG GAGLRAAFGL SEAGFNTACV TKLFPTRSHT VAAQGGINAA LGNMEEDNWR 
WHFYDTVKGS DWLGDQDAIH YMTEQAPAAV VELENYGMPF SRTEDGKIYQ RAFGGQSLKF 
GKGGQAHRCC CVADRTGHSL LHTLYGRSLR YDTSYFVEYF ALDLLMENGE CRGVIALCIE 
DGSIHRIRAK NTVVATGGYG RTYFSCTSAH TSTGDGTAMI TRAGLPCQDL EFVQFHPTGI 
YGAGCLITEG CRGEGGILIN SQGERFMERY APVAKDLASR DVVSRSMTLE IREGRGCGPE 
KDHVYLQLHH LPPEQLATRL PGISETAMIF AGVDVTKEPI PVLPTVHYNM GGIPTNYKGQ 
VLRHVNGQDQ IVPGLYACGE AACASVHGAN RLGANSLLDL VVFGRACALS IEESCRPGDK 
VPPIKPNAGE ESVMNLDKLR FADGSIRTSE LRLSMQKSMQ NHAAVFRVGS VLQEGCGKIS 
KLYGDLKHLK TFDRGMVWNT DLVETLELQN LMLCALQTIY GAEARKESRG AHAREDYKVR 
IDEYDYSKPI QGQQKKPFEE HWRKHTLSYV DVGTGKVTLE YRPVIDKTLN EADCATVPPA 
IRSY

Genular Protein ID: 894893134

Symbol: D6RFM5_HUMAN

Name: N/A

UniProtKB Accession Codes:

D6RFM5

Database IDs:

ARBA 15 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 13 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 7 Gene3D 3 GeneTree 1 HGNC 1 HOGENOM 1 IntAct 1 InterPro 8 MassIVE 1 NCBI Taxonomy 1 NCBIfam 2 OrthoDB 1 PANTHER 2 PIRSR 2 PROSITE 1 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 Rhea 5 RuleBase 1 SMR 1 SUPFAM 3 UCSC 1 UniPathway 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 583
  • Mass: 63567
  • Checksum: 0ED1155D7A99BA9A
  • Sequence:
    • MSGVRGLSRL LSARRLALAK AWPTVLQTGT RGFHFTVDGN KRASAKVSDS ISAQYPVVDH 
EFDAVVVGAG GAGLRAAFGL SEAGFNTACV TKLFPTRSHT VAAQGGINAA LGNMEEDNWR 
WHFYDTVKGS DWLGDQDAIH YMTEQAPAAV VELENYGMPF SRTEDGKIYQ RAFGGQSLKF 
GKGGQAHRCC CVADRTGHSL LHTLYGRSLR YDTSYFVEYF ALDLLMENGE CRGVIALCIE 
DGSIHRIRAK NTVVATGGYG RTYFSCTSAH TSTGDGTAMI TRAGLPCQDL EFVQFHPTGI 
YGAGCLITEG CRGEGGILIN SQGERFMERY APVAKDLASR DVVSRSMTLE IREGRGCGPE 
KDHVYLQLHH LPPEQLATRL PGISETAMIF AGVDVTKEPI PVLPTVHYNM GGIPTNYKGQ 
VLRHVNGQDQ IVPGLYACGE AACASVHGAN RLGANSLLDL VVFGRACALS IEESCRPGDK 
VPPIKPNAGE ESVMNLDKLR FADGSIRTSE LRLSMQKVRI DEYDYSKPIQ GQQKKPFEEH 
WRKHTLSYVD VGTGKVTLEY RPVIDKTLNE ADCATVPPAI RSY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.