ACHE (GeneID: 43) | Homo sapiens
Description: acetylcholinesterase (Cartwright blood group) [Source:HGNC Symbol;Acc:HGNC:108]
Synonyms: YT, ACEE, N-ACHE, ARACHE
Other ID(s): HGNC:108, ENSG00000087085
Protein Accession Numbers: ENST00000440755, NP_001289551, ENST00000241069, NP_000656, NP_056646, ENST00000426415, ENST00000442452, NP_001354846, ENST00000411582, ENST00000430554, NP_001289550, ENST00000454485, NP_001354848, ENST00000419336, ENST00000441605, NP_001354844, ENST00000302913, ENST00000428317, NP_001269378, ENST00000445236, NP_001354847, ENST00000412389
Statistics: ClinVar(11)
ClinVar Pathogenicity of Variations help

∙ 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.
ENST00000241069 ENST00000302913 ENST00000411582 ENST00000412389 ENST00000419336 ENST00000426415 ENST00000428317 ENST00000430554 ENST00000440755 ENST00000441605 ENST00000442452 ENST00000445236 ENST00000454485 NP_000656 NP_001269378 NP_001289550 NP_001289551 NP_001354844 NP_001354846 NP_001354847 NP_001354848 NP_056646


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
NO DOMAINS EXIST

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 ; 0.494 0.793
Amyloidosis Nutritional and Metabolic Diseases ; 0.494 0.793
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.494 0.793
Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.494 0.793
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.494 0.793
Drug toxicity Chemically-Induced Disorders ; 0.494 0.793
Growth Disorders Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Jacksonian Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.494 0.793
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.494 0.793
Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.494 0.793
Movement Disorders Nervous System Diseases ; 0.494 0.793
Muscular Dystrophy Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.494 0.793
nervous system disorder Nervous System Diseases ; 0.494 0.793
Obesity Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Poisoning Chemically-Induced Disorders ; 0.494 0.793
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.494 0.793
Schizophrenia Mental Disorders ; 0.494 0.793
Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Saturnine Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Adverse reaction to drug Chemically-Induced Disorders ; 0.494 0.793
Prenatal Injuries Female Urogenital Diseases and Pregnancy Complications ; 0.494 0.793
Senile Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Complex partial seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Memory impairment Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.494 0.793
Persistent Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Continuous Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Intermittent Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Fine Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Coarse Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Massive Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Action Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Passive Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Static Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Resting Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Darkness Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Generalized seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Seizures, Clonic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Tremor, Perioral Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Tremor, Limb Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Tremor, Muscle Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Nerve Tremors Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Tremor, Neonatal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Amphetamine-Related Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.494 0.793
Amphetamine Addiction Chemically-Induced Disorders ; Mental Disorders ; 0.494 0.793
Amphetamine Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.494 0.793
Etat Marbre Nervous System Diseases ; 0.494 0.793
Visual seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Tonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Epileptic drop attack Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.494 0.793
Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.494 0.793
Organophosphorus Poisoning Chemically-Induced Disorders ; 0.494 0.793
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.494 0.793
Seizures, Somatosensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Seizures, Auditory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Olfactory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Gustatory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Vertiginous seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.494 0.793
Tonic - clonic seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.494 0.793
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.494 0.793
Organophosphate poisoning Chemically-Induced Disorders ; 0.494 0.793
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.494 0.793
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.494 0.793
Non-epileptic convulsion Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Single Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Atonic Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Adult Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.494 0.793
Learning Disturbance Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.494 0.793
Learning Disabilities Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.494 0.793
Age-Related Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.494 0.793
Memory Disorder, Semantic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.494 0.793
Memory Disorder, Spatial Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.494 0.793
Memory Loss Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.494 0.793
Convulsive Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Seizures, Focal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Seizures, Sensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Pill Rolling Tremor Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Tremor, Semirhythmic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.494 0.793
Chromophobe Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.494 0.793
Sarcomatoid Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.494 0.793
Collecting Duct Carcinoma of the Kidney Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.494 0.793
Papillary Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.494 0.793
Developmental Academic Disorder Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.494 0.793
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.494 0.793
Involuntary Quiver Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Organothiophosphonate Poisoning Chemically-Induced Disorders ; 0.494 0.793
Organothiophosphate Poisoning Chemically-Induced Disorders ; 0.494 0.793
Nonepileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Convulsions Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Epileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Myoclonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
Generalized Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.494 0.793
NO RESULT FOUND
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