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Gene: ACHE (acetylcholinesterase (Cartwright blood group)) Homo sapiens
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Symbol: ACHE
Name: acetylcholinesterase (Cartwright blood group)
Description: Exhibits several functions, including acetylcholine binding activity; acetylcholinesterase activity; and protein homodimerization activity. Involved in acetylcholine catabolic process; cell adhesion; and osteoblast development. Localizes to several cellular components, including the Golgi apparatus; perinuclear region of cytoplasm; and synapse. Implicated in Alzheimer's disease; epilepsy; and myasthenia gravis. Biomarker of Hirschsprung's disease; bacterial meningitis; neurodegenerative disease (multiple); and type 1 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACEE; acetylcholinesterase; acetylcholinesterase (Yt blood group); apoptosis-related acetylcholinesterase; ARACHE; N-ACHE; YT; Yt blood group
Orthologs:
Mus musculus (house mouse) : Ache (acetylcholinesterase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ache (acetylcholinesterase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ache (acetylcholinesterase (Cartwright blood group))
Pan paniscus (bonobo/pygmy chimpanzee) : ACHE (acetylcholinesterase (Cartwright blood group))
Canis lupus familiaris (dog) : ACHE (acetylcholinesterase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ache (acetylcholinesterase (Cartwright blood group))
Sus scrofa (pig) : ACHE (acetylcholinesterase (Cartwright blood group))
Chlorocebus sabaeus (green monkey) : ACHE (acetylcholinesterase (Cartwright blood group))
Heterocephalus glaber (naked mole-rat) : Ache (acetylcholinesterase (Cartwright blood group))
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl7100,889,994 - 100,896,974 (-)Ensembl
GRCh387100,889,994 - 100,896,994 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377100,487,615 - 100,493,754 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367100,325,551 - 100,331,477 (-)NCBINCBI36hg18NCBI36
Build 347100,132,268 - 100,138,147NCBI
Celera795,218,191 - 95,224,120 (-)NCBI
Cytogenetic Map7q22.1NCBI
HuRef795,117,968 - 95,123,900 (-)NCBIHuRef
CHM1_17100,418,205 - 100,424,356 (-)NCBICHM1_1
CRA_TCAGchr7v2799,847,220 - 99,853,146 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ACHE
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 735878
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.