BACE1 (GeneID: 23621) | Homo sapiens
Description: beta-secretase 1 [Source:HGNC Symbol;Acc:HGNC:933]
Synonyms: ASP2, HSPC104, BACE
Other ID(s): ENSG00000186318, HGNC:933
Protein Accession Numbers: ENST00000392937, NP_001193977, ENST00000510915, NP_620429, ENST00000445823, NP_036236, ENST00000313005, ENST00000528053, ENST00000510630, NP_620428, ENST00000428381, NP_001193978, ENST00000513780, ENST00000504995, NP_620427
Statistics: gnomAD(36)
gnomAD Variants By Annotation

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000313005 ENST00000392937 ENST00000428381 ENST00000445823 ENST00000504995 ENST00000510630 ENST00000510915 ENST00000513780 ENST00000528053 NP_001193977 NP_001193978 NP_036236 NP_620427 NP_620428 NP_620429


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00026 Asp Eukaryotic aspartyl protease 74-285 CL0129 Peptidase_AA Mus musculus
PF00026 Asp Eukaryotic aspartyl protease 308-384 CL0129 Peptidase_AA Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.616 0.517
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.616 0.517
Schizophrenia Mental Disorders ; 0.616 0.517
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.616 0.517
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.616 0.517
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.616 0.517
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.616 0.517
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.616 0.517
NO RESULT FOUND
feedback