ENSG00000169599


Homo sapiens

Features
Gene ID: ENSG00000169599
  
Biological name :NFU1
  
Synonyms : NFU1 / NFU1 iron-sulfur cluster scaffold / Q9UMS0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p13.3
Gene start: 69395750
Gene end: 69437628
  
Corresponding Affymetrix probe sets: 218946_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000418598
Ensembl peptide - ENSP00000417693
Ensembl peptide - ENSP00000418882
Ensembl peptide - ENSP00000306965
Ensembl peptide - ENSP00000377842
Ensembl peptide - ENSP00000387219
Ensembl peptide - ENSP00000393338
Ensembl peptide - ENSP00000405495
Ensembl peptide - ENSP00000415102
NCBI entrez gene - 27247     See in Manteia.
OMIM - 608100
RefSeq - XM_017003808
RefSeq - NM_001002755
RefSeq - NM_001002756
RefSeq - NM_015700
RefSeq Peptide - NP_056515
RefSeq Peptide - NP_001002755
RefSeq Peptide - NP_001002756
swissprot - F8W9P7
swissprot - F8WAV1
swissprot - H7C537
swissprot - F8WET4
swissprot - Q9UMS0
swissprot - C9J8Q1
Ensembl - ENSG00000169599
  
Related genetic diseases (OMIM): 605711 - Multiple mitochondrial dysfunctions syndrome 1, 605711
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
 nfu1ENSDARG00000068125Danio rerio
 NFU1ENSGALG00000030200Gallus gallus
 Nfu1ENSMUSG00000029993Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001075  NIF system FeS cluster assembly, NifU, C-terminal
 IPR014824  Scaffold protein Nfu/NifU, N-terminal
 IPR034904  Fe-S cluster assembly domain superfamily
 IPR035433  NFU1-like
 IPR036498  Scaffold protein Nfu/NifU, N-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016226 iron-sulfur cluster assembly IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005829 cytosol IEA
 molecular_functionGO:0005506 iron ion binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051539 4 iron, 4 sulfur cluster binding IDA


Pathways (from Reactome)
Pathway description
No match


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:0001254 Lethargy 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0002092 Pulmonary hypertension 
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 HP:0002878 Early respiratory failure 
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 HP:0003128 Lactic acidemia "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson]
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 HP:0008972 Decreased activities of mitochondrial-encoded respiratory chain complexes 
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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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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