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FLASH GENE
Symbol NDUFS4 contributors: mct - updated : 29-09-2010
HGNC name NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
HGNC id 7711
Corresponding disease
CMTND1 mitochondrial complex 1 deficiency 1
NDUFS4 mitochondrial encephalomyopathy, Leigh like syndrome or Leigh syndrome
Location 5q11.2      Physical location : 52.856.464 - 52.979.171
Synonym name
  • iron-sulfur protein 4/18kDa subunit of complex 1of respiratory chain
  • mitochondrial respiratory chain, complex 1, 18kDa subunit
  • complex I 18kDa subunit
  • complex I-AQDQ
  • Synonym symbol(s) AQDQ, NUYM, CI-18, CI-AQDQ
    EC.number 1.6.99.3
    DNA
    TYPE functioning gene
    STRUCTURE 122.71 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC133569 5q11.2 similar to 40S ribosomal protein S10 ISL1 5q11.1 ISL1 transcription factor, LIM/homeodomain, (islet-1) PELO 5q11.2 pelota homolog (Drosophila) ITGA1 5p15-p11 integrin, alpha 1 ITGA2 5q23-q31 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) MOCS2 5q11 molybdenum cofactor synthesis 2 LOC391781 5 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein LOC391782 5 similar to ribosomal protein S19; 40S ribosomal protein S19 FST 5p11.2 follistatin NDUFS4 5q11.1 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) ASSP9 5q11-q12 argininosuccinate synthetase pseudogene 9 FLJ20051 HSPB3 5q11.2 heat shock 27kDa protein 3 SNAG1 5q11.2 sorting nexin associated golgi protein 1 LOC389290 5 LOC389290 LOC391783 5 similar to membrane-spanning proteoglycan NG2 LOC391784 5 similar to CG12279-PA LOC153134 5q11.2 hypothetical LOC153134 ESM1 5q11.2 endothelial cell-specific molecule 1 GZMK 5q11-q12 granzyme K (serine protease, granzyme 3; tryptase II) GZMA 5q11-q12 granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) FLJ37927 5q11.2 CDC20-like protein LOC345643 5q11.2 similar to geminin UNG2 5p15.2-p13.1 uracil-DNA glycosylase 2 DHX29 5q11.2 DEAH (Asp-Glu-Ala-His) box polypeptide 29 PPAP2A 5q11 phosphatidic acid phosphatase type 2A LOC379013  ring finger protein 138 pseudogene LOC391785 5 similar to Adenylate kinase isoenzyme 4, mitochondrial (ATP-AMP transphosphorylase) FLJ90709 5q11.2 hypothetical protein FLJ90709 DDX4 5q11.2-q12 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 LOC391786 5 similar to heterogeneous nuclear ribonucleoprotein H CRL3 5q11.2 gp130-like monocyte receptor
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 676 20.1 175 - 2002 PMID: 119434
    also called NDUFS4N
    - - - - - . mitochondrial . subunit 2002 PMID: 119434
    also called NDUFS4M
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text pancreas
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • extrinsic domain, mitochondrial signal peptide
  • secondary structure seven subunit mitochondrial, 34 subunit nuclear, forty different subunits
    mono polymer polymer
    isoforms Precursor precursor of 18kDa
    HOMOLOGY
    interspecies homolog to murine Ndufs4
    Homologene
    FAMILY
  • complex I NDUFS4 subunit family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    basic FUNCTION
  • NADH ubiquitine dehydrogenase (Q reductase), assembly of a functional complex 1
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFS4 , CMTND1
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS