COLQ
entrez
8292
canonical
uniprot
Q9Y215
canonical
ensembl
ENSG00000206561
resolver
ensp
ENSP00000373291
resolver
ensp
ENSP00000373296
resolver
ensp
ENSP00000373298
resolver
genesymbol
COLQ
resolver
hgnc
HGNC:2226
resolver
uniprot
B3KY09
resolver
uniprot
Q6DK18
resolver
uniprot
Q6YH18
resolver
uniprot
Q6YH19
resolver
uniprot
Q6YH20
resolver
uniprot
Q6YH21
resolver
uniprot
Q9NP18
resolver
uniprot
Q9NP19
resolver
uniprot
Q9NP20
resolver
uniprot
Q9NP21
resolver
uniprot
Q9NP22
resolver
uniprot
Q9NP23
resolver
uniprot
Q9NP24
resolver
uniprot
Q9UP88
resolver
uniprot_entry
COLQ_HUMAN
resolver
uniprot_sec
B3KY09
resolver
uniprot_sec
Q6DK18
resolver
uniprot_sec
Q6YH18
resolver
uniprot_sec
Q6YH19
resolver
uniprot_sec
Q6YH20
resolver
uniprot_sec
Q6YH21
resolver
uniprot_sec
Q9NP18
resolver
uniprot_sec
Q9NP19
resolver
uniprot_sec
Q9NP20
resolver
uniprot_sec
Q9NP21
resolver
uniprot_sec
Q9NP22
resolver
uniprot_sec
Q9NP23
resolver
uniprot_sec
Q9NP24
resolver
uniprot_sec
Q9UP88
resolver
amino_acid_sequence
MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKKRGGHKACCLLTPPPPPLFPPPFFRGGRSPLLSPDMKNLMLELETSQSPCMQGSLGSPGPPGPQGPPGLPGKTGPKGEKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGPRGEKGDLGMMGLPGSRGPMGSKGYPGSRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGEMGPKGEPGIAGHRGPTGRPGKRGKQGQKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQLIMGPKGERGFPGPPGRCLCGPTMNVNNPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQNAIAFRRDQRSLYFKDSLGWLPIQLTPFYPVDYTADQHGTCGDGLLQPGEECDDGNSDVGDDCIRCHRAYCGDGHRHEGVEDCDGSDFGYLTCETYLPGSYGDLQCTQYCYIDSTPCRYFT
uniprot
proteins
disease_involvement
DISEASE: Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]: 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. CMS5 inheritance is autosomal recessive. {ECO:0000269|PubMed:10441569, ECO:0000269|PubMed:10665486, ECO:0000269|PubMed:11865139, ECO:0000269|PubMed:14702351, ECO:0000269|PubMed:15159418, ECO:0000269|PubMed:24938146, ECO:0000269|PubMed:9689136, ECO:0000269|PubMed:9758617}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Anchors the catalytic subunits of asymmetric AChE to the synaptic basal membrane, and is therefore involved in the down-regulation of colinergic synaptic transmission. {ECO:0000269|PubMed:14702351}.
uniprot
proteins
mass_dalton
47766
uniprot
proteins
post_translational_modification
PTM: The triple-helical tail is stabilized by disulfide bonds at each end.
uniprot
proteins
protein_family
COLQ family
uniprot
proteins
pubmed
10441569
uniprot
proteins
pubmed
10665486
uniprot
proteins
pubmed
11865139
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14702351
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15159418
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15526038
uniprot
proteins
pubmed
24938146
uniprot
proteins
pubmed
9689136
uniprot
proteins
pubmed
9758617
uniprot
proteins
sequence_length
455
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Synapse {ECO:0000269|PubMed:14702351}.
uniprot
proteins