CHAT
entrez
1103
canonical
uniprot
P28329
canonical
ensembl
ENSG00000070748
resolver
ensp
ENSP00000337103
resolver
ensp
ENSP00000343486
resolver
ensp
ENSP00000345878
resolver
ensp
ENSP00000378926
resolver
ensp
ENSP00000378929
resolver
genesymbol
CHAT
resolver
genesymbol
ChAT
resolver
hgnc
HGNC:1912
resolver
uniprot
A2BDF4
resolver
uniprot
A2BDF5
resolver
uniprot
Q16488
resolver
uniprot
Q6LEN5
resolver
uniprot
Q6LEN6
resolver
uniprot
Q9BQ23
resolver
uniprot
Q9BQ35
resolver
uniprot
Q9BQE1
resolver
uniprot_entry
CLAT_HUMAN
resolver
uniprot_entry
Q6LEN5_HUMAN
resolver
uniprot_entry
Q6LEN6_HUMAN
resolver
uniprot_sec
A2BDF4
resolver
uniprot_sec
A2BDF5
resolver
uniprot_sec
Q16488
resolver
uniprot_sec
Q9BQ23
resolver
uniprot_sec
Q9BQ35
resolver
uniprot_sec
Q9BQE1
resolver
amino_acid_sequence
MGLRTAKKRGLGGGGKWKREEGGGTRGRREVRPACFLQSGGRGDPGDVGGPAGNPGCSPHPRAATRPPPLPAHTPAHTPEWCGAASAEAAEPRRAGPHLCIPAPGLTKTPILEKVPRKMAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAVIFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIMPEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGANRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHVTQSSRKLIRADSVSELPAPRRLRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLLLLKDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCKETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKATRPSQGHQP
uniprot
proteins
disease_involvement
DISEASE: Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS6 affected individuals have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. CMS6 inheritance is autosomal recessive. {ECO:0000269|PubMed:11172068, ECO:0000269|PubMed:12756141}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.6
uniprot
proteins
function
FUNCTION: Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. {ECO:0000269|PubMed:17144655}.
uniprot
proteins
mass_dalton
82536
uniprot
proteins
protein_family
Carnitine/choline acetyltransferase family
uniprot
proteins
pubmed
11172068
uniprot
proteins
pubmed
12756141
uniprot
proteins
pubmed
1337937
uniprot
proteins
pubmed
1339386
uniprot
proteins
pubmed
1388731
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17144655
uniprot
proteins
pubmed
1784419
uniprot
proteins
pubmed
3183663
uniprot
proteins
sequence_length
748
uniprot
proteins