ENSG00000140939


Homo sapiens

Features
Gene ID: ENSG00000140939
  
Biological name :NOL3
  
Synonyms : NOL3 / nucleolar protein 3 / O60936
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q22.1
Gene start: 67170154
Gene end: 67175735
  
Corresponding Affymetrix probe sets: 1558738_at (Human Genome U133 Plus 2.0 Array)   221566_s_at (Human Genome U133 Plus 2.0 Array)   221567_at (Human Genome U133 Plus 2.0 Array)   59625_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000463698
Ensembl peptide - ENSP00000457732
Ensembl peptide - ENSP00000463685
Ensembl peptide - ENSP00000268605
Ensembl peptide - ENSP00000454256
Ensembl peptide - ENSP00000454598
Ensembl peptide - ENSP00000455808
Ensembl peptide - ENSP00000457243
Ensembl peptide - ENSP00000457720
NCBI entrez gene - 8996     See in Manteia.
OMIM - 605235
RefSeq - XM_017023843
RefSeq - NM_001185057
RefSeq - NM_001276307
RefSeq - NM_001276309
RefSeq - NM_001276311
RefSeq - NM_001276312
RefSeq - NM_001276319
RefSeq - NM_003946
RefSeq - XM_005256217
RefSeq - XM_005256219
RefSeq - XM_011523424
RefSeq Peptide - NP_001171986
RefSeq Peptide - NP_001263236
RefSeq Peptide - NP_001263240
RefSeq Peptide - NP_001263241
RefSeq Peptide - NP_001263248
RefSeq Peptide - NP_003937
RefSeq Peptide - NP_001263238
swissprot - Q5TZN6
swissprot - O60936
swissprot - H3BM67
swissprot - H3BQJ5
swissprot - H3BUN4
swissprot - H3BUP2
swissprot - J3QLS5
swissprot - J3QLT7
Ensembl - ENSG00000140939
  
Related genetic diseases (OMIM): 614937 - Myoclonus, familial cortical, 614937
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
 Nol3ENSMUSG00000014776Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001315  CARD domain
 IPR011029  Death-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001974 blood vessel remodeling IEA
 biological_processGO:0002931 response to ischemia IEA
 biological_processGO:0006376 mRNA splice site selection IDA
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0008380 RNA splicing TAS
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0010659 cardiac muscle cell apoptotic process IEA
 biological_processGO:0010664 negative regulation of striated muscle cell apoptotic process IEA
 biological_processGO:0010667 negative regulation of cardiac muscle cell apoptotic process IEA
 biological_processGO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway IEA
 biological_processGO:0014736 negative regulation of muscle atrophy IEA
 biological_processGO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IDA
 biological_processGO:0014876 response to injury involved in regulation of muscle adaptation IEA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043066 negative regulation of apoptotic process TAS
 biological_processGO:0051259 protein complex oligomerization IDA
 biological_processGO:0060547 negative regulation of necrotic cell death IEA
 biological_processGO:0090201 negative regulation of release of cytochrome c from mitochondria IDA
 biological_processGO:0097193 intrinsic apoptotic signaling pathway IEA
 biological_processGO:1902109 negative regulation of mitochondrial membrane permeability involved in apoptotic process IEA
 biological_processGO:1902176 negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IDA
 biological_processGO:1903298 negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway ISS
 biological_processGO:1990001 inhibition of cysteine-type endopeptidase activity involved in apoptotic process IDA
 biological_processGO:2001237 negative regulation of extrinsic apoptotic signaling pathway IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005730 nucleolus TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion ISS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016528 sarcoplasm IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 molecular_functionGO:0003723 RNA binding TAS
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005123 death receptor binding IEA
 molecular_functionGO:0005509 calcium ion binding IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0035877 death effector domain binding IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0089720 caspase binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
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 HP:0002527 Falls 
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 HP:0003581 Onset in adulthood 
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 HP:0003677 Slow progression 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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