Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ETFA Gene

protein-coding   GIFtS: 62
GCID: GC15M076508

electron-transfer-flavoprotein, alpha polypeptide

 Explore 15 diseases affiliated with
ETFA via our new
 Human Malady Compendium 
Biological research products
for ETFA
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Electron-Transfer-Flavoprotein, Alpha Polypeptide1 2     Electron Transfer Flavoprotein Alpha-Subunit2
GA21 2 5     Electron Transfer Flavoprotein Subunit Alpha, Mitochondrial2
MADD1 2 5     Electron Transfer Flavoprotein, Alpha Polypeptide2
EMA1 2     Glutaric Aciduria II2
Alpha-ETF3     Alpha-ETF3

External Ids:    HGNC: 34811   Entrez Gene: 21082   Ensembl: ENSG000001403747   OMIM: 6080535   UniProtKB: P138043   

Export aliases for ETFA gene to outside databases

Previous GC identifers: GC15M072396 GC15M069598 GC15M074084 GC15M074224 GC15M074295 GC15M053265


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ETFA:
ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons
between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone
oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which
multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric,
isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ETFA_HUMAN, P13804
Function: The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases,
including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the
main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase)

Gene Wiki entry for ETFA


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ETFA gene promoter:
         HTF   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   Tal-1beta   POU2F1   POU2F1a   Cart-1   ITF-2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidETFA promoter sequence
   Search SABiosciences Chromatin IP Primers for ETFA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ETFA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q23-q25   Ensembl cytogenetic band:  15q24.3   HGNC cytogenetic band: 15q23-q25

ETFA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ETFA gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M076508:  view genomic region     (about GC identifiers)

Start:
76,507,696 bp from pter      End:
76,603,813 bp from pter
Size:
96,118 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ETFA_HUMAN, P13804 (See protein sequence)
Recommended Name: Electron transfer flavoprotein subunit alpha, mitochondrial precursor  
Size: 333 amino acids; 35080 Da
Cofactor: Binds 1 FAD per dimer
Subunit: Heterodimer of an alpha and a beta subunit
Subcellular location: Mitochondrion matrix
4 PDB 3D structures from and Proteopedia for ETFA:
1EFV (3D)        1T9G (3D)        2A1T (3D)        2A1U (3D)    
Secondary accessions: B4DT43 Q53XN3
Alternative splicing: 2 isoforms:  P13804-1   P13804-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ETFA: NX_P13804

Post-translational modifications:

  • The N-terminus is blocked1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P13804

  • ETFA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_000117.1  NP_001121188.1  

    ENSEMBL proteins: 
     ENSP00000452762   ENSP00000399273   ENSP00000267950   ENSP00000458001   ENSP00000453098  
     ENSP00000452659   ENSP00000454194   ENSP00000453345   ENSP00000453422   ENSP00000452942  
     ENSP00000453017   ENSP00000452777   ENSP00000453753  
    Reactome Protein details: P13804
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate (see all 2): ETFA
    OriGene Custom Protein Services for ETFA 
    GenScript Custom Purified and Recombinant Proteins Services for ETFA
    Novus Biologicals ETFA Proteins
    Novus Biologicals ETFA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ETFA

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS3170610
    GO:0005759mitochondrial matrix TAS--


    ETFA for ontologies           About GeneDecksing



    ETFA Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ETFA 
    GenScript Custom Superior Antibodies Services for ETFA
    Novus Biologicals ETFA Antibodies
    Search for Antibodies for ETFA at Abcam  
    Uscn Antibodies for ETFA
    ThermoFisher Antibodies for ETFA

    Assay Products for ETFA: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ETFA
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ETFA


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ETFA for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR001308 ETF_a
     IPR014731 ETF_asu_C
     IPR014729 Rossmann-like_a/b/a_fold
     IPR014730 ETF_a/b_N
     IPR018206 ETF_asu_C_CS

    Graphical View of Domain Structure for InterPro Entry P13804

    ProtoNet protein and cluster: P13804

    2 Blocks protein families:
    IPB001308 Electron transfer flavoprotein
    IPB014731 Electron transfer flavoprotein


    UniProtKB/Swiss-Prot: ETFA_HUMAN, P13804
    Similarity: Belongs to the ETF alpha-subunit/FixB family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ETFA_HUMAN, P13804
    Function: The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases,
    including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the
    main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase)

         Genatlas biochemistry entry for ETFA:
    electron transfer flavoprotein,alpha (32kDa),with the unstable variant T171I overreprinted in ACADVL deficient patients
    with mild childhood presentation

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 2): ETFA
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ETFA
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ETFA
    SwitchGear 3'UTR luciferase reporter plasmidETFA 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ETFA (see all 7)
    OriGene shRNA RFP: ETFA
    OriGene siRNA: ETFA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ETFA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ETFA

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ETFA (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ETFA (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): ETFA (NM_000126)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ETFA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ETFA 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ETFA
    Search LifeMap BioReagents cell lines for ETFA

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETFA

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009055electron carrier activity IDA10423253
    GO:0016491oxidoreductase activity IDA10423253
    GO:0050660flavin adenine dinucleotide binding IDA10423253


    ETFA for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for ETFA:
     Decreased viability of wild-ty  Increased HPV18 LCR reporter a  Increased homologous recombina 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.1.00
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Respiratory electron transport0.81
    2Metabolism
    Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for ETFA
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport



    ETFA for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ETFA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/321 Interacting proteins for ETFA (P138042, 3 ENSP000002679504) via UniProtKB, MINT, STRING, and/or I2D (see all 321)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETFBP381172, 3, ENSP000003461734MINT-24939 I2D: score=5 STRING: ENSP00000346173
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    SARS2Q9NP812, 3, ENSP000002214314MINT-8079030 I2D: score=5 STRING: ENSP00000221431
    C12orf44Q9BSB43, ENSP000003389904I2D: score=3 STRING: ENSP00000338990
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0022904respiratory electron transport chain TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0055114oxidation-reduction process ----


    ETFA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ETFA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ETFA

    1 HMDB Compound for ETFA    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    1 Novoseek chemical compound relationship for ETFA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 66.9 3 19265687 (1), 16527485 (1)

    Search CenterWatch for drugs/clinical trials and news about ETFA 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ETFA gene (2 alternative transcripts): 
    NM_000126.3  NM_001127716.1  

    Unigene Cluster for ETFA:

    Electron-transfer-flavoprotein, alpha polypeptide
    Hs.39925  [show with all ESTs]
    Unigene Representative Sequence: AK292979
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000557943(uc002bbt.2 uc010bkq.1) ENST00000433983 ENST00000557975
    ENST00000267950 ENST00000565910 ENST00000560179 ENST00000560726 ENST00000559602
    ENST00000559973 ENST00000560595 ENST00000560899 ENST00000559075 ENST00000560044
    ENST00000560816 ENST00000558803 ENST00000559758 ENST00000560345 ENST00000559386


    miRNA
    Products:
         
    OriGene 3'-UTR Clone (see all 2): ETFA
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ETFA
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ETFA
    SwitchGear 3'UTR luciferase reporter plasmidETFA 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ETFA (see all 7)
    OriGene shRNA RFP: ETFA
    OriGene siRNA: ETFA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ETFA
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ETFA (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ETFA (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): ETFA (NM_000126)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ETFA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ETFA 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ETFA
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ETFA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ETFA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ETFA

    Additional cDNA sequence: 

    AK292979.1 AK300044.1 BC015526.1 BC029995.1 BC034156.1 BC095457.1 BT009796.1 J04058.1 

    24/28 DOTS entries (see all 28):

    DT.452682  DT.100845847  DT.100845842  DT.121019654  DT.100845838  DT.121019723  DT.100845840  DT.97862432 
    DT.100845841  DT.86853568  DT.100845839  DT.100845844  DT.102833401  DT.449350  DT.92452763  DT.95362494 
    DT.121019693  DT.92452760  DT.100717416  DT.100845833  DT.100845834  DT.121019667  DT.121019669  DT.92452756 

    24/444 AceView cDNA sequences (see all 444):

    CB141761 CF127663 BU195820 BC029995 BG742919 BI767335 BM451068 BM452381 
    CF139853 BU657307 CR592726 BG698699 NM_000126 BM804215 AI056817 BQ893479 
    CB139263 CB138162 CR608419 AV660860 CD695625 BM745538 BQ216165 BQ436599 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ETFA    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c
    SP1:                    -                                         -           -     -     -                           
    SP2:                    -                                         -                                                   
    SP3:                                                                                                                  
    SP4:                                                                                      -                           
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for ETFA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ETFA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGAGCTACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ETFA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ETFA

    SOURCE GeneReport for Unigene cluster: Hs.39925
        SABiosciences Custom PCR Arrays for ETFA
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ETFA
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ETFA
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ETFA
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ETFA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETFA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ETFA gene from 11/41 species (see all 41)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Etfa1 , 5 electron transferring flavoprotein, alpha polypeptide1, 5 91.69(n)1
    95.8(a)1
      9 (30.13 cM)5
    1108421  NM_145615.41  NP_663590.31 
     554545085 
    chicken
    (Gallus gallus)
    Aves ETFA1 electron-transfer-flavoprotein, alpha polypeptide 78.47(n)
    84.78(a)
      415353  NM_001030543.1  NP_001025714.1 
    lizard
    (Anolis carolinensis)
    Reptilia ETFA6
    --
    85(a)
    1 ↔ 1
    AAWZ02039250(550-6297)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.242462 Xenopus laevis transcribed sequence with moderate similarity more 74.56(n)    CA793847.1 
    zebrafish
    (Danio rerio)
    Actinopterygii etfa2 electron-transfer-flavoprotein, alpha polypeptide 74.29(n)   325724  BC047845.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta wal1 , 3 electron carrier3
    walrus1
    70(a)3
    63.31(n)1
    71.07(a)1
      362521  NM_057627.31  NP_476975.11 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F27D4.11 Protein F27D4.1 62.94(n)
    64.54(a)
      172535  NM_059745.4  NP_492146.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AIM45(YPR004C)4
    AIM451
    Putative ortholog of mammalian electron transfer flavoprotein more4
    Aim45p1
    52.34(n)1
    47.77(a)1
      16(565041-564007)4
    8561121, 4  NP_015329.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ETFALPHA1 Electron transfer flavoprotein subunit alpha 56.99(n)
    52.05(a)
      841516  NM_103974.5  NP_175507.1 
    rice
    (Oryza sativa)
    Liliopsida Os.140842 Oryza sativa (japonica cultivar-group) cDNA clone0 more 69.88(n)    AK061773.1 


    ENSEMBL Gene Tree for ETFA (if available)
    TreeFam Gene Tree for ETFA (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1595 NCBI SNPs in ETFA are shown (see all 1595    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1194589701,2
    C,Fpathogenic53323425(-) ACAGAC/TGGGAA 4 T M mis12Minor allele frequency- T:0.00NA EU 5847
    rs802923191,2
    C,--53265223(+) ATTTCT/CGATAG 2 -- ut312Minor allele frequency- C:0.08NA 122
    rs788937241,2
    --53265768(+) GCCTTT/CTGCCT 2 -- int11Minor allele frequency- C:0.01NA 120
    rs620301951,2
    --53266123(+) TTTCTC/TGTCTG 2 -- int11Minor allele frequency- T:0.50NA 2
    rs791954171,2
    C,F,--53266834(+) GACATG/ATTGTT 2 -- int11Minor allele frequency- A:0.06WA 118
    rs1121625871,2
    --53267067(+) ACCACG/AAAGTG 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs19965481,2
    H,--53267607(-) CCAGAT/CCTTTC 2 -- int11Minor allele frequency- C:0.00NS 120
    rs767702881,2
    F,--53267895(+) TTATAC/TTGGAA 2 -- int11Minor allele frequency- T:0.02NA 120
    rs801541521,2
    C,F,--53267998(+) ACTAAA/GGAAGA 2 -- int11Minor allele frequency- G:0.08WA 118
    rs796415221,2
    C,F,--53268574(+) AAACAG/ACCCAA 2 -- int11Minor allele frequency- A:0.08WA 118

    HapMap Linkage Disequilibrium report for ETFA (76507696 - 76603813 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ETFA: --
    Human Gene Mutation Database (HGMD): ETFA

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ETFA
    DNA2.0 Custom Variant and Variant Library Synthesis for ETFA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ETFA for disorders           About GeneDecksing

    OMIM gene information: 608053   
    OMIM disorders: 231680  
    UniProtKB/Swiss-Prot: ETFA_HUMAN, P13804
  • Defects in ETFA are the cause of glutaric aciduria type 2A (GA2A) [MIM:231680]; also known as glutaricaciduria
  • IIA. GA2A is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is
    characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid,
    but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids

    15 diseases for ETFA:    About MalaCards
    acyl-coa dehydrogenase    glutaricaciduria    glutaricaciduria, type iia    glutaric acidemia type ii
    diffuse large b-cell lymphoma    b-cell lymphomas    benign mesothelioma    gangliosidosis
    celiac disease    hemangioma    myopathy    tuberculosis
    carcinoma    hepatitis    mycobacterium tuberculosis

    1 disease from the University of Copenhagen DISEASES database for ETFA:
    Gangliosidosis

    1 Novoseek disease relationship for ETFA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shock 10.9 2 17196136 (1), 17244485 (1)

    Genatlas disease: ETFA
    glutaric aciduria IIA,early onset

    Human Genome Epidemiology (HuGE) Navigator: ETFA (2 documents)

    Export disorders for ETFA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ETFA gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with ETFA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II -- and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. (PubMed id 1882842)1, 2, 9 Indo Y.... Tanaka K. (1991)
    2. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. (PubMed id 12815589)1, 2, 9 Olsen R.K.J....Gregersen N. (2003)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation. (PubMed id 10356313)1, 2 Bross P....Gregersen N. (1999)
    5. Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution. (PubMed id 8962055)1, 2 Roberts D.L.... Kim J.-J.P. (1996)
    6. Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. (PubMed id 1430199)1, 2 Freneaux E.... Rhead W. (1992)
    7. Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein. (PubMed id 3170610)1, 2 Finocchiaro G.... Tanaka K. (1988)
    8. Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human. (PubMed id 8617498)1, 9 White R.A....Koeller D.M. (1996)
    9. Electron transfer flavoprotein deficiency: functional and molecular aspects. (PubMed id 16510302)1, 9 Schiff M....Vianey-Saban C. (2006)
    10. Genome-wide association analysis implicates the involv ement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PubMed id 22491018)1 Wang J....Platt A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2108 HGNC: 3481 AceView: ETFA Ensembl:ENSG00000140374 euGenes: HUgn2108
    ECgene: ETFA H-InvDB: ETFA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ETFA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ETFA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ETFA gene:
    Search GeneIP for patents involving ETFA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for ETFA  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ETFA   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ETFA  
     OriGene Protein Over-expression Lysate for ETFA   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for ETFA   OriGene 3'-UTR Clone for ETFA  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ETFA   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ETFA  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ETFA   OriGene Custom Protein Services for ETFA  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ETFA
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ETFA
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ETFA
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ETFA
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ETFA
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ETFA
     GenScript Custom Purified and Recombinant Proteins Services for ETFA GenScript cDNA clones with any tag delivered in your preferred vector for ETFA
     GenScript Custom Assay Services for ETFA GenScript Custom Superior Antibodies Services for ETFA
     GenScript Custom overexpressing Cell Line Services for ETFA CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ETFA promoter
     Search Chromatin IP Primers for ETFA
     RT2 qPCR Primer Assay in human, mouse, rat ETFA
     Search GNC Networks for ETFA
     SABiosciences Custom PCR Arrays for ETFA
     Search Tocris compounds for ETFA
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ETFA antibodies
     ETFA proteins
     ETFA lysates
     Search for Antibodies for ETFA at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for ETFA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     ETFA Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for ETFA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETFA
     SwitchGear 3'UTR luciferase reporter plasmids for ETFA
     SwitchGear Promoter luciferase reporter plasmids for ETFA
     ThermoFisher Antibodies for ETFA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ETFA
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ETFA gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4