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FLASH GENE

Symbol

COLQ

contributors: mct/npt - updated : 19-09-2023

HGNC name	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
HGNC id	2226

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMS1C congenital myasthenic syndrome, type 1C
Location	3p25.1      Physical location : 15.491.640 - 15.563.258
Synonym name	collagenic tail of endplate acetylcholinesterase
	AChE Q subunit
	acetylcholinesterase-associated collagen
	collagenic tail of endplate acetylcholinesterase
	single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
Synonym symbol(s)	EAD, FLJ55041, CMS5

DNA

TYPE	functioning gene
STRUCTURE	71.62 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	pter - D3S1597 - [D3S3589 - D3S1263 - D3S1259 - D3S3701 - D3S3610 - D3S1585 - D3S1554 - D3S3608 - D3S3473 - D3S3595 - D3S1286 ] - D3S2338 - D3S1293 - cen
Authors	Donger (98)
Text	[COLQ ]

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005677 17 splicing 3007 NP_005668 48 455 - 2023 37356721 also called COLQ - variant I NM_080538 17 splicing 3136 NP_536799 46.4 445 - 2023 37356721 also called COLQ - variant II NM_080539 16 splicing 2905 NP_536800 - 421 - 2023 37356721 also called COLQ - variant III missing exon 3 variant 4 - splicing 2999 isoform 4 - 451 - 2023 37356721

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Lymphoid/Immune spleen           thymus         Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Muscular myoblast

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a high conserved proline-rich attachment domain (PRAD) that interacts with AChE(T)
	two cysteines that form disulfide bonds with AChE(T)
	a collagen domain
	a central helicoidal domain
	a secretion signal peptide
	a proteoglycan binding domains that anchor the tripal helical domain to the basal lamina
	a C terminal conserved domain

secondary structure

triple helix stabilized by disulfide bonds

mono polymer

homomer , trimer

HOMOLOGY

interspecies

homolog to murine Colq

Homologene

FAMILY

COLQ family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	synapses and basal lamina
	expressed in slow and fast muscle fibers

basic FUNCTION	collagen-like tail responsible for the anchorage of ACHE to the synaptic basal lamina (Deprez 2000)
	could be limiting in the assembly of synaptic COLQ-ACHE during development and differentiation (Ruiz 2009)
	in addition to its structural role, has important regulatory functions at the synapse by controlling ACHR clustering and synaptic gene expression through its interaction with MUSK (Sigoillot 2010)
	anchors and accumulates ACHE in the extracellular matrix (Sigoillot 2010)
	plays an important structural role at vertebrate neuromuscular junctions (NMJs) by anchoring and accumulating acetylcholinesterase (AChE) in the extracellular matrix (ECM)(Sigoillot 2010)
	COLQ controls the development and the maturation of the postsynaptic domain by regulating synaptic gene expression
	nonfibrillar collagen that plays a crucial role at the vertebrate neuromuscular junction (NMJ) by anchoring acetylcholinesterase to the synapse

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

anchoring into the basal lamina

INTERACTION

DNA

RNA

small molecule

protein	interacts with perlecan/dystroglycan and the muscle-specific receptor tyrosine kinase (MUSK), key molecules in the NMJ formation (Sigoillot 2010)
	interaction of COLQ to perlecan and MUSK is crucial for anchoring ACHE to the neuromuscular junction (NMJ)
	SRSF1 and HNRNPH1 antagonistically modulate splicing by binding exclusively to the target in exon 16 of COLQ (
	COLQ anchors acetylcholinesterase (ACHE) in the synaptic cleft of the neuromuscular junction (NMJ)
	COLQ binds directly to LRP4 but not to MUSK and COLQ interacts indirectly with MUSK through LRP4

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMS1C

related resource

ESTHER wwwserver:ESTerases and alpha/beta Hydrolase Enzymes and Relatives

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in ColQ-CTD cause endplate ACHE deficiency by compromising COLQ-MUSK interaction at the neuromuscular junction (NMJ)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS