ENSG00000172915


Homo sapiens

Features
Gene ID: ENSG00000172915
  
Biological name :NBEA
  
Synonyms : NBEA / neurobeachin / Q8NFP9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: 1
Band: q13.3
Gene start: 34942287
Gene end: 35673022
  
Corresponding Affymetrix probe sets: 221207_s_at (Human Genome U133 Plus 2.0 Array)   226439_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000440233
Ensembl peptide - ENSP00000383295
Ensembl peptide - ENSP00000486239
Ensembl peptide - ENSP00000308534
Ensembl peptide - ENSP00000369254
Ensembl peptide - ENSP00000369271
NCBI entrez gene - 26960     See in Manteia.
OMIM - 604889
RefSeq - XM_017020546
RefSeq - XM_006719805
RefSeq - XM_006719806
RefSeq - XM_011535046
RefSeq - XM_011535047
RefSeq - XM_017020544
RefSeq - XM_017020545
RefSeq - NM_001204197
RefSeq - NM_015678
RefSeq - XM_005266346
RefSeq - XM_005266347
RefSeq - XM_005266348
RefSeq - XM_006719803
RefSeq Peptide - NP_001191126
RefSeq Peptide - NP_056493
swissprot - F5GXV7
swissprot - Q8NFP9
swissprot - A0A0D9SF28
swissprot - Q5T321
Ensembl - ENSG00000172915
  
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
 nbeaaENSDARG00000070080Danio rerio
 nbeabENSDARG00000105184Danio rerio
 ENSGALG00000017062Gallus gallus
 ENSGALG00000045592Gallus gallus
 NbeaENSMUSG00000027799Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LRBA / P50851 / LPS responsive beige-like anchor proteinENSG0000019858963
NBEAL2 / Q6ZNJ1 / neurobeachin like 2ENSG0000016079619
NBEAL1 / Q6ZS30 / neurobeachin like 1ENSG0000014442618
LYST / Q99698 / lysosomal trafficking regulatorENSG0000014366917
WDFY3 / Q8IZQ1 / WD repeat and FYVE domain containing 3ENSG0000016362515
WDFY4 / Q6ZS81 / WDFY family member 4ENSG0000012881515
WDR81 / Q562E7 / WD repeat domain 81ENSG000001677169
NSMAF / Q92636 / neutral sphingomyelinase activation associated factorENSG000000356819


Protein motifs (from Interpro)
Interpro ID Name
 IPR000409  BEACH domain
 IPR001680  WD40 repeat
 IPR010508  Domain of unknown function DUF1088
 IPR011989  Armadillo-like helical
 IPR011993  PH-like domain superfamily
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR016024  Armadillo-type fold
 IPR017986  WD40-repeat-containing domain
 IPR023362  PH-BEACH domain
 IPR031570  Domain of unknown function DUF4704
 IPR036322  WD40-repeat-containing domain superfamily
 IPR036372  BEACH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008104 protein localization IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005802 trans-Golgi network ISS
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0005886 plasma membrane ISS
 cellular_componentGO:0012505 endomembrane system ISS
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0019901 protein kinase binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


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






 

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