COLQ - collagen like tail subunit of asymmetric acetylcholinesterase Gene

Homo sapiens

Also known as EAD; CMS5

Gene ID: 8292 | Gene type: protein coding

About COLQ

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:15,450,133-15,521,706 (from NCBI)

This gene has 14 transcripts (splice variants), 229 orthologues, 37 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 7.4), lymph node (RPKM 2.8) and 19 other tissues.

Summary

This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the Enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

COLQ Products(3)

mRNA	Protein	Name
NM_005677.4	NP_005668.2	acetylcholinesterase collagenic tail peptide isoform I precursor
NM_080538.2	NP_536799.1	acetylcholinesterase collagenic tail peptide isoform II precursor
NM_080539.4	NP_536800.2	acetylcholinesterase collagenic tail peptide isoform III precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15526038	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COLQ Protein Structure

Collagen

0
100
200
300
400
455 a.a.

Protein Preferred Names

Protein Names

acetylcholinesterase collagenic tail peptide

AChE Q subunit

COLQ Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	COLQ	Q9Y215	ACHE	Homo sapiens	P22303	X-Ray Diffraction	15526038
Intra	COLQ	Q9Y215	SGTB	Homo sapiens	Q96EQ0	Y2H Prey Pooling	32296183
Intra	COLQ	Q9Y215	SGTB	Homo sapiens	Q96EQ0	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Myasthenic Syndrome, Congenital, 5

Endplate Acetylcholinesterase Deficiency	Congenital Myasthenic Syndrome 5
CMS5	Ead
Engel Congenital Myasthenic Syndrome	Myasthenic Syndrome, Congenital, Engel Type
Cms Ic	Congenital Myasthenic Syndrome Type Ic
Congenital Myasthenic Syndrome Type Ic, Formerly	Cms1c, Formerly
Cms Ic, Formerly	Congenital Myasthenic Syndrome Engel Type
End Plate Acetylcholinesterase Deficiency	Synaptic Congenital Myasthenic Syndromes
Cms1c	Cmse
Congenital Myasthenic Syndrome Type 1c	End-Plate Acetylcholinesterase Deficiency
Myasthenic Syndrome, Congenital, Type 5

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Myasthenic Syndrome, Congenital, 2a, Slow-Channel

CMS2A	Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel
Myasthenic Syndrome, Congenital, Type Iia	Sccms
Myasthenic Syndrome, Slow-Channel Congenital	Slow-Channel Congenital Myasthenic Syndrome
Cms Iia	Myasthenic Syndrome, Congenital, Slow-Channel
Slow Channel Congenital Myasthenic Syndrome	Myasthenic Syndrome, Congenital, Type 2a, Slow-Channel
Myasthenic Syndromes, Congenital, Slow Channel

Diverticulitis

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Myasthenic Syndrome, Congenital, 21, Presynaptic

Congenital Myasthenic Syndrome 21	CMS21
Congenital Myasthenic Syndrome 21, Presynaptic

Neonatal Myasthenia Gravis

Myasthenia Gravis, Neonatal

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Internuclear Ophthalmoplegia

Ophthalmoplegia Internuclearis	Bielschowsky-Lutz-Cogan Syndrome
Ino - [Internuclear Ophthalmoplegia]	Lhermitte Syndrome
Mlf - [Medial Longitudinal Fasciculus] Syndrome	Internuclear Paralysis

Megaesophagus

Esophageal Achalasia

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Myasthenic Syndrome, Congenital, 13

Congenital Myasthenic Syndrome 13	CMS13
Cmsta2	Myasthenic Syndrome, Congenital, With Tubular Aggregates 2
Myasthenic Syndrome, Congenital, 13, With Tubular Aggregates	Congenital Myasthenic Syndrome 13 With Tubular Aggregates
Congenital Myasthenic Syndrome With Tubular Aggregates 2	Myasthenic Syndrome, Congenital, With Tubular Aggregates, 2
Myasthenic Syndrome, Congenital, With Tubular Aggregates, Type 2

Conjugate Gaze Palsy

Palsy Of Conjugate Gaze	Supranuclear Ocular Palsy
Gaze Palsy

Myasthenic Syndrome, Congenital, 6, Presynaptic

Familial Infantile Myasthenia	CMS6
Cmsea	Congenital Myasthenic Syndrome 6
Familial Infantile Myasthenia Gravis 2	Fimg2
Myasthenic Syndrome, Congenital, Associated With Episodic Apnea	Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea
Congenital Myasthenic Syndrome Type Ia2, Formerly	Cms1a2, Formerly
Cms Ia2, Formerly	Myasthenia, Familial Infantile, Formerly
Fim, Formerly	Myasthenia Gravis, Familial Infantile, 2, Formerly
Fimg2, Formerly	Cms Ia2
Cms1a2	Congenital Myasthenic Syndrome 6, Presynaptic
Congenital Myasthenic Syndrome Type Ia2	Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea
Fim	Cms1a
Cms-Ea	Cms Ia
Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea	Congenital Myasthenic Syndrome Type 1a
Congenital Myasthenic Syndrome Type Ia	Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Nasopharyngeal Carcinoma

Malignant Neoplasm Of Nasopharynx	Npc
Nasopharyngeal Cancer	Nasopharyngeal Carcinoma 1
Nasopharynx Carcinoma	Nasopharyngeal Neoplasms
Npca	Carcinoma Of Nasopharynx
Malignant Nasopharyngeal Tumor	Nasopharynx Cancer
Squamous Cell Carcinoma Of The Nasopharynx	Nasopharyngeal Neoplasm
Cancer Of Nasopharynx

Myasthenic Syndrome, Congenital, 14

Congenital Myasthenic Syndrome 14	CMS14
Cmsta3	Myasthenic Syndrome, Congenital, With Tubular Aggregates 3
Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates	Congenital Myasthenic Syndrome 14, With Tubular Aggregates
Congenital Myasthenic Syndrome With Tubular Aggregates 3	Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3
Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates

Spinal Muscular Atrophy, Distal, X-Linked 3

SMAX3	Dsmax
X-Linked Distal Spinal Muscular Atrophy Type 3	X-Linked Distal Spinal Muscular Atrophy 3
Atp7a-Related Distal Motor Neuropathy	X-Linked Dhmn3
X-Linked Distal Hereditary Motor Neuropathy Type 3	X-Linked Dsma3
Spinal Muscular Atrophy, Distal, X-Linked Recessive	X-Linked Recessive Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy, X-Linked, 3	DSMAX3
Spinal Muscular Atrophy Distal X-Linked Recessive	Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03008	COLQ Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COLQ	RGD	RGD:2377
Mus musculus	COLQ	MGD	MGI:1338761
Bos taurus	COLQ	VGNC	VGNC:27580
Felis catus	COLQ	VGNC	VGNC:61073

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