ENSG00000160688


Homo sapiens

Features
Gene ID: ENSG00000160688
  
Biological name :FLAD1
  
Synonyms : FLAD1 / flavin adenine dinucleotide synthetase 1 / Q8NFF5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q21.3
Gene start: 154983338
Gene end: 154993111
  
Corresponding Affymetrix probe sets: 205661_s_at (Human Genome U133 Plus 2.0 Array)   212541_at (Human Genome U133 Plus 2.0 Array)   221115_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000357418
Ensembl peptide - ENSP00000357416
Ensembl peptide - ENSP00000357417
Ensembl peptide - ENSP00000292180
Ensembl peptide - ENSP00000295530
Ensembl peptide - ENSP00000317296
Ensembl peptide - ENSP00000357413
NCBI entrez gene - 80308     See in Manteia.
OMIM - 610595
RefSeq - NM_001184892
RefSeq - NM_001184891
RefSeq - NM_025207
RefSeq - NM_201398
RefSeq Peptide - NP_001171820
RefSeq Peptide - NP_001171821
RefSeq Peptide - NP_079483
RefSeq Peptide - NP_958800
swissprot - Q5T190
swissprot - Q5T191
swissprot - Q5T196
swissprot - Q8NFF5
Ensembl - ENSG00000160688
  
Related genetic diseases (OMIM): 255100 - Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 flad1ENSDARG00000070390Danio rerio
 FLAD1ENSGALG00000027700Gallus gallus
 Flad1ENSMUSG00000042642Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001453  MoaB/Mog domain
 IPR002500  Phosphoadenosine phosphosulphate reductase
 IPR012183  FAD synthetase with the MoaB/Mog domain
 IPR014729  Rossmann-like alpha/beta/alpha sandwich fold
 IPR036425  MoaB/Mog-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006747 FAD biosynthetic process IBA
 biological_processGO:0006771 riboflavin metabolic process TAS
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0055114 oxidation-reduction process IBA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003919 FMN adenylyltransferase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016779 nucleotidyltransferase activity IEA


Pathways (from Reactome)
Pathway description
Vitamin B2 (riboflavin) metabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001638 Cardiomyopathy 
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 HP:0001992 Organic aciduria 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002093 Respiratory insufficiency 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0003198 Myopathy 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003546 Exercise intolerance 
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 HP:0003701 Proximal muscle weakness "A lack of strength of the proximal muscles." [HPO:curators]
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 HP:0003812 Phenotypic variability 
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 HP:0004755 Supraventricular tachyarrhythmias 
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0012548 Skeletal muscle fatty infiltration "Deposition of fat within muscles." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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