ENSG00000078114


Homo sapiens

Features
Gene ID: ENSG00000078114
  
Biological name :NEBL
  
Synonyms : NEBL / nebulette / O76041
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: p12.31
Gene start: 20779973
Gene end: 21174187
  
Corresponding Affymetrix probe sets: 203961_at (Human Genome U133 Plus 2.0 Array)   203962_s_at (Human Genome U133 Plus 2.0 Array)   207279_s_at (Human Genome U133 Plus 2.0 Array)   216882_s_at (Human Genome U133 Plus 2.0 Array)   217585_at (Human Genome U133 Plus 2.0 Array)   241782_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000396512
Ensembl peptide - ENSP00000393896
Ensembl peptide - ENSP00000489224
Ensembl peptide - ENSP00000489562
Ensembl peptide - ENSP00000489545
Ensembl peptide - ENSP00000366326
NCBI entrez gene - 10529     See in Manteia.
OMIM - 605491
RefSeq - XM_017015469
RefSeq - NM_006393
RefSeq - NM_213569
RefSeq - XM_005252342
RefSeq - XM_005252343
RefSeq - XM_005252344
RefSeq - XM_011519291
RefSeq - XM_017015467
RefSeq - XM_017015468
RefSeq - NM_001173484
RefSeq Peptide - NP_001166955
RefSeq Peptide - NP_006384
RefSeq Peptide - NP_998734
swissprot - Q5JUU7
swissprot - A0A0U1RRK0
swissprot - A0A0U1RQY0
swissprot - A0A0U1RRI4
swissprot - O76041
Ensembl - ENSG00000078114
  
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
 NEBLENSGALG00000031565Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NEB / P20929 / nebulinENSG0000018309139
NRAP / Q86VF7 / nebulin related anchoring proteinENSG0000019789318
LASP1 / Q14847 / LIM and SH3 protein 1ENSG0000000283412


Protein motifs (from Interpro)
Interpro ID Name
 IPR000900  Nebulin repeat
 IPR001452  SH3 domain
 IPR001781  Zinc finger, LIM-type
 IPR035631  Nebulette, SH3 domain
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0071691 cardiac muscle thin filament assembly IMP
 cellular_componentGO:0001725 stress fiber IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0030018 Z disc IDA
 cellular_componentGO:0031674 I band NAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005523 tropomyosin binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding IPI
 molecular_functionGO:0008307 structural constituent of muscle NAS
 molecular_functionGO:0031005 filamin binding IPI
 molecular_functionGO:0051015 actin filament binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000982 Palmoplantar keratoderma 
Show

 HP:0001644 Dilated cardiomyopathy 
Show

 HP:0001874 Abnormality of neutrophil 
Show

 HP:0003198 Myopathy 
Show

 HP:0003236 Elevated serum creatine phosphokinase 
Show

 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
Show

 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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