RBCC Red Blood Cell Collection

COLQ_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: COLQ
Protein names and data: COLQ_HUMAN , Acetylcholinesterase collagenic tail peptide , AChE Q subunit; Acetylcholinesterase-associated collagen; Flags: Precursor Lenght: 455 a.a.
Mass: 47766 Da
fasta formatted sequence
Function: Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.
Disease: ( OMIM: 603033 603034 ) Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034]: A rare autosomal recessive congenital myasthenic syndrome characterized by onset during childhood, generalized weakness, abnormal fatigability on exertion, refrectoriness to acetylcholinesterase drugs, decremental electromyographic response and morphological abnormalities of the neuromuscular junctions. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell junction, synapse.
Tissue specificity: Found at the end plate of skeletal muscle.

Genetic variants

59 - 59 P -> Q (in CMSE; abrogates binding to T subunit). VAR_010133
312 - 312 S -> G (in dbSNP:rs6782980). VAR_048809 6782980
342 - 342 D -> E (in CMSE; impairs anchoring to the basal lamina). VAR_010134
410 - 410 R -> Q (in CMSE). VAR_010135
430 - 430 Y -> S (in CMSE). VAR_010136
444 - 444 C -> Y (in CMSE). VAR_010137

Database cross-references

UniProt: Q9Y215
Ensembl: ENST00000383781
Ensembl: ENST00000383786
Ensembl: ENST00000383787
Ensembl: ENST00000383788
Ensembl: ENST00000603808
MIM: 603033
MIM: 603034
neXtProt: NX_Q9Y215
Antibodypedia: Q9Y215 (may not find the protein thus also not any antibody)
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