| Type | Description |
|---|---|
| Definition | collagen like tail subunit of asymmetric acetylcholinesterase |
| Date | Results | Publications |
|---|---|---|
| 2018-12-29 12:01:00 | To study cholinesterase distribution in patients with COLQ gene mutation, immunohistochemical staining and indirect immunofluorescence method was used to detect cholinesterase lack of disease in patients with resectable pancreatic or lung tissue samples, confirmed cholinesterase distribution in nerve fibers surrounding the vessels. Expression of cholinesterase in mutant patients was significantly higher than wildtype. | 29630557 |
| 2018-12-22 11:54:00 | COLQ rs7609897-T association with diverticular disease in Iceland and Denmark population. | 28585551 |
| 2018-11-24 11:11:00 | This data highlight COLQ (R410W) as a variant to initially test for in patients who have isolated limb-girdle myasthenia and are not responsive to acetylcholine receptor inhibitors, especially those from southern India. | 30124556 |
| 2018-02-17 10:32:00 | Mutations in RAPSN and COLQ are the most common causes of congenital myasthenic syndrome in Israel. | 28024842 |
| 2016-08-06 11:15:00 | Global splicing analysis with RNA-seq revealed that exons carrying the hnRNP H-binding GGGGG motif are predisposed to be skipped compared to those carrying the SRSF1-binding GGAGG motif in both human and mouse brains. | 26282582 |
| Type | IDs |
|---|---|
| Synonymous | CMS5, EAD |
| Gene |
UniProtKB-ID:
COLQ_HUMAN
UniprotKB:
Q9Y215
UniParc:
UPI000013F74C,
UPI000002A70B,
UPI000002A709,
UPI000013E8AE,
UPI000013F748,
UPI0000169ACD,
UPI000013F743,
UPI000002A70A
EMBL:
AF229122,
AF229120,
AK128401,
AY150337,
AY150339,
AF229123,
AF229119,
AY150334,
AF229121,
AF229117,
BC074828,
AF229126,
AF057036,
AF229118,
AY150336,
AY150338,
AF229125,
AF229124,
BC074829,
AJ225895,
CH471055
Ensembl:
ENSG00000206561
KO:
hsa:8292
|
| Nucleutide sequences |
EMBL-CDS:
AAF43195.1,
AAO06818.1,
AAO06817.1,
AAF43199.1,
AAO06819.1,
AAH74829.1,
AAF43198.1,
CAA12648.1,
AAF43201.1,
AAF43200.1,
AAF43196.1,
AAF43197.1,
BAG54671.1,
AAH74828.1,
AAO06816.1,
AAO06814.1,
EAW64250.1,
AAC39927.1,
AAF43202.1
Ensembl_TRS:
ENST00000383788,
ENST00000383786,
ENST00000383781
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000373296,
ENSP00000373291,
ENSP00000373298
RefSeq:
NP_536800.2,
NP_005668.2,
NP_536799.1
|
| Others |
UniRef100:
UniRef100_Q9Y215
UniRef90:
UniRef90_Q9Y215
UniRef50:
UniRef50_Q9Y215
UniGene:
Hs.146735
CCDS:
CCDS46768.1,
CCDS33709.1,
CCDS43057.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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