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FLASH GENE
Symbol NDUFV1 contributors: mct - updated : 27-06-2018
HGNC name NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
HGNC id 7716
Corresponding disease
ALXD2 Alexander disease
NDUFV1D NDUFV1 deficiency
Location 11q13      Physical location : 67.374.322 - 67.380.012
Synonym symbol(s) UOR1, UQOR1
EC.number 1.6.5.3, 1.6.99.3
DNA
TYPE functioning gene
STRUCTURE 5.00 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
ADRBK1 11q13.3 adrenergic, beta, receptor kinase 1 LOC338692 11q13.1 hypothetical protein LOC338692 SSH-3 11q13.1 slingshot 3 POLD4 11q13 polymerase (DNA-directed), delta 4 CLC 19q13.1 Charot-Leyden crystal protein RAD9A 11q13.1-q13.2 RAD9 homolog (S. pombe) PPP1CA 11q13.3 protein phosphatase 1, catalytic subunit, alpha isoform RPS6KB2 11q13.3 ribosomal protein S6 kinase, 70kDa, polypeptide 2 FLJ00332 11q13.1 FLJ00332 protein KIAA1394 11q13.1 KIAA1394 protein PTPRCAP 11q13 protein tyrosine phosphatase, receptor type, C-associated protein CORO1B 11q12.2 coronin, actin-binding protein, 1B LOC390212 11 similar to putative G-protein coupled receptor CABP4 11q13.1-q13.4 calcium binding protein 4 FLJ21749 11q13.1 hypothetical protein FLJ21749 AIP 11q13.3 aryl hydrocarbon receptor interacting protein PITPNM1 11q13 phosphatidylinositol transfer protein, membrane-associated 1 DOC-1R 11q13 tumor suppressor deleted in oral cancer-related 1 CABP2 11q13.1 calcium binding protein 2 GSTP1 11q13.3 glutathione S-transferase pi FLJ90834 11q13.1 hypothetical protein FLJ90834 NDUFV1 11q13 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa LOC390213 11 similar to Double C2, gamma NUDT8 11q13.1 nudix (nucleoside diphosphate linked moiety X)-type motif 8 TBX10 11q13 T-box 10 ACY-3 11q13.1 aspartoacylase-3 ALDH3B2 11q13 aldehyde dehydrogenase 3 family, member B2 RPL37P2 11q13 ribosomal protein L37 pseudogene 2 LOC132740 11q13.1 similar to unc-93 homolog B1; unc93 (C.elegans) homolog B; unc-93 related protein LOC390215 11 similar to seven transmembrane helix receptor OR7E11P 11q11 olfactory receptor, family 7, subfamily E, member 11 pseudogene LOC390216 11 similar to mannosyltransferase LOC158490 11q13.1 similar to hypothetical protein FLJ10661 LOC387785 11 LOC387785
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas    
Reproductivemale systemtestis   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a NADH binding site
  • a FMN and a tetranuclear iron-sulfur cluster
  • mono polymer polymer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • NADH ubiquinone dehydrogenase (Q reductase)
  • NADH-CoQ reductase (complex I), transfer of electrons from NADH to the respiratory chain
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFV1D , ALXD2
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS