ENSG00000186318


Homo sapiens

Features
Gene ID: ENSG00000186318
  
Biological name :BACE1
  
Synonyms : BACE1 / beta-secretase 1 / P56817
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q23.3
Gene start: 117285207
Gene end: 117316259
  
Corresponding Affymetrix probe sets: 217904_s_at (Human Genome U133 Plus 2.0 Array)   222462_s_at (Human Genome U133 Plus 2.0 Array)   222463_s_at (Human Genome U133 Plus 2.0 Array)   224335_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000318585
Ensembl peptide - ENSP00000475405
Ensembl peptide - ENSP00000475171
Ensembl peptide - ENSP00000434486
Ensembl peptide - ENSP00000431848
Ensembl peptide - ENSP00000424536
Ensembl peptide - ENSP00000422461
Ensembl peptide - ENSP00000403685
Ensembl peptide - ENSP00000402228
NCBI entrez gene - 23621     See in Manteia.
OMIM - 604252
RefSeq - NM_138973
RefSeq - NM_138972
RefSeq - NM_001207048
RefSeq - NM_001207049
RefSeq - NM_012104
RefSeq - NM_138971
RefSeq Peptide - NP_620429
RefSeq Peptide - NP_001193977
RefSeq Peptide - NP_001193978
RefSeq Peptide - NP_036236
RefSeq Peptide - NP_620427
RefSeq Peptide - NP_620428
swissprot - U3KPS1
swissprot - B7Z3Z4
swissprot - B7Z3K2
swissprot - A0A024R3F9
swissprot - A0A024R3E8
swissprot - A0A024R3D7
swissprot - A0A024R3D5
swissprot - H0YDX0
swissprot - P56817
swissprot - E9PJG7
Ensembl - ENSG00000186318
  
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
 BACE1ENSDARG00000101716Danio rerio
 BACE1ENSGALG00000007298Gallus gallus
 Bace1ENSMUSG00000032086Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
BACE2 / Q9Y5Z0 / beta-site APP-cleaving enzyme 2ENSG0000018224046


Protein motifs (from Interpro)
Interpro ID Name
 IPR001461  Aspartic peptidase A1 family
 IPR001969  Aspartic peptidase, active site
 IPR009119  Beta-secretase BACE
 IPR009120  Beta-secretase BACE1
 IPR021109  Aspartic peptidase domain superfamily
 IPR032799  Xylanase inhibitor, C-terminal
 IPR033121  Peptidase family A1 domain
 IPR033874  Memapsin-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006509 membrane protein ectodomain proteolysis TAS
 biological_processGO:0030163 protein catabolic process IBA
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0050435 amyloid-beta metabolic process IDA
 biological_processGO:0050804 modulation of chemical synaptic transmission IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005770 late endosome IDA
 cellular_componentGO:0005771 multivesicular body IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005802 trans-Golgi network IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0010008 endosome membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0070931 Golgi-associated vesicle lumen TAS
 molecular_functionGO:0001540 amyloid-beta binding IPI
 molecular_functionGO:0004175 endopeptidase activity IEA
 molecular_functionGO:0004190 aspartic-type endopeptidase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IDA
 molecular_functionGO:0008798 beta-aspartyl-peptidase activity TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019899 enzyme binding IPI


Pathways (from Reactome)
Pathway description
Amyloid fiber formation


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000142192 APP / P05067 / amyloid beta precursor protein  / reaction
 ENSG00000103365 GGA2 / Q9UJY4 / golgi associated, gamma adaptin ear containing, ARF binding protein 2  / complex / reaction
 ENSG00000144035 NAT8 / Q9UHE5 / N-acetyltransferase 8 (putative)  / reaction
 ENSG00000100083 GGA1 / Q9UJY5 / golgi associated, gamma adaptin ear containing, ARF binding protein 1  / complex / reaction
 ENSG00000125447 GGA3 / Q9NZ52 / golgi associated, gamma adaptin ear containing, ARF binding protein 3  / complex / reaction






 

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