Details for: COLQ

Gene ID: 8292

Symbol: COLQ

Ensembl ID: ENSG00000206561

Description: collagen like tail subunit of asymmetric acetylcholinesterase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 103.6676
    Cell Significance Index: -16.1300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 64.1452
    Cell Significance Index: -16.2700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.1027
    Cell Significance Index: -16.1600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.8266
    Cell Significance Index: 525.5700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.6005
    Cell Significance Index: 321.0600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.2886
    Cell Significance Index: 462.1900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.2313
    Cell Significance Index: 54.4700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.1841
    Cell Significance Index: 44.8400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.0592
    Cell Significance Index: 81.2800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.8182
    Cell Significance Index: 23.3500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.7092
    Cell Significance Index: 47.6900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.4881
    Cell Significance Index: 11.9100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4695
    Cell Significance Index: 324.7300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.4135
    Cell Significance Index: 10.6300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4034
    Cell Significance Index: 76.7700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.3790
    Cell Significance Index: 9.0900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3438
    Cell Significance Index: 68.2400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2768
    Cell Significance Index: 15.5300
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.2541
    Cell Significance Index: 3.2000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2479
    Cell Significance Index: 15.2400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2254
    Cell Significance Index: 203.5000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2181
    Cell Significance Index: 21.5800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1907
    Cell Significance Index: 6.7000
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.1890
    Cell Significance Index: 1.4500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1728
    Cell Significance Index: 78.4300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.1241
    Cell Significance Index: 1.6100
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: 0.1171
    Cell Significance Index: 1.5800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.1158
    Cell Significance Index: 1.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0972
    Cell Significance Index: 17.5300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0891
    Cell Significance Index: 14.4900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0698
    Cell Significance Index: 1.9500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0632
    Cell Significance Index: 1.5800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0606
    Cell Significance Index: 114.1400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0590
    Cell Significance Index: 80.1600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0363
    Cell Significance Index: 66.9800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0324
    Cell Significance Index: 49.8500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0248
    Cell Significance Index: 15.7600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0245
    Cell Significance Index: 0.4200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0229
    Cell Significance Index: 2.5000
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.0187
    Cell Significance Index: 0.2800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0059
    Cell Significance Index: 0.1700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0124
    Cell Significance Index: -0.7600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0136
    Cell Significance Index: -7.4200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0139
    Cell Significance Index: -2.0200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0189
    Cell Significance Index: -13.8900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0212
    Cell Significance Index: -15.6900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0228
    Cell Significance Index: -10.0600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0240
    Cell Significance Index: -18.1900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0301
    Cell Significance Index: -18.8200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0310
    Cell Significance Index: -17.4900
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0386
    Cell Significance Index: -0.4200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0388
    Cell Significance Index: -1.7600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0433
    Cell Significance Index: -1.1600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0496
    Cell Significance Index: -2.1600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0537
    Cell Significance Index: -6.6100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0681
    Cell Significance Index: -1.3300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0795
    Cell Significance Index: -1.7400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0820
    Cell Significance Index: -14.0000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0826
    Cell Significance Index: -8.6000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0837
    Cell Significance Index: -5.7900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0870
    Cell Significance Index: -18.3300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0950
    Cell Significance Index: -13.0500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0995
    Cell Significance Index: -12.7500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1014
    Cell Significance Index: -2.1900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1073
    Cell Significance Index: -6.4400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1157
    Cell Significance Index: -13.4800
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.1188
    Cell Significance Index: -1.1300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1223
    Cell Significance Index: -15.8000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1258
    Cell Significance Index: -4.1200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1285
    Cell Significance Index: -13.1300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1341
    Cell Significance Index: -15.8200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1371
    Cell Significance Index: -2.9100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1422
    Cell Significance Index: -4.5300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1452
    Cell Significance Index: -16.6300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1676
    Cell Significance Index: -3.3700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1676
    Cell Significance Index: -3.6300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1805
    Cell Significance Index: -3.5700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1851
    Cell Significance Index: -14.6600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1994
    Cell Significance Index: -14.1100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2010
    Cell Significance Index: -12.9700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2094
    Cell Significance Index: -15.6100
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.2099
    Cell Significance Index: -1.9900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2102
    Cell Significance Index: -3.0100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2104
    Cell Significance Index: -13.2600
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: -0.2134
    Cell Significance Index: -2.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2148
    Cell Significance Index: -11.1600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2221
    Cell Significance Index: -2.7700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2226
    Cell Significance Index: -3.3600
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.2548
    Cell Significance Index: -3.8700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2578
    Cell Significance Index: -9.0300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2676
    Cell Significance Index: -12.5800
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2733
    Cell Significance Index: -3.4500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2776
    Cell Significance Index: -8.8900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2828
    Cell Significance Index: -4.8900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2861
    Cell Significance Index: -15.0200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2864
    Cell Significance Index: -7.1500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2975
    Cell Significance Index: -3.6900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3134
    Cell Significance Index: -14.6100
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3150
    Cell Significance Index: -6.5800
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.3266
    Cell Significance Index: -3.8100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The COLQ gene is a unique gene that encodes a collagen-like tail subunit of asymmetric acetylcholinesterase, a protein essential for the breakdown of the neurotransmitter acetylcholine. This subunit is characterized by its structural similarity to collagen, which suggests its role in maintaining the integrity of the extracellular matrix. The COLQ gene is specifically expressed in various cell types, including retinal bipolar neurons, cortical interneurons, and goblet cells, highlighting its diverse functional roles. **Pathways and Functions:** The COLQ gene is involved in several cellular pathways, including: 1. **Acetylcholine catabolic process in synaptic cleft**: COLQ plays a crucial role in the degradation of acetylcholine, a neurotransmitter essential for muscle contraction and neurotransmission. 2. **Extracellular matrix organization**: The COLQ protein contributes to the structural integrity of the extracellular matrix, which is essential for maintaining tissue architecture and function. 3. **Protein localization**: The collagen-like tail subunit of COLQ is involved in regulating protein localization to the plasma membrane, which is critical for cellular signaling and function. 4. **Regulation of synaptic assembly at neuromuscular junction**: COLQ has been shown to play a role in regulating synaptic assembly at the neuromuscular junction, which is essential for muscle function. **Clinical Significance:** The COLQ gene has been implicated in several neurological and immunological disorders, including: 1. **Myasthenia gravis**: A autoimmune disorder characterized by muscle weakness and fatigue, which has been linked to COLQ mutations. 2. **Epilepsy**: COLQ has been shown to play a role in regulating synaptic assembly at the neuromuscular junction, which may contribute to the development of epilepsy. 3. **Autoimmune diseases**: The COLQ protein has been implicated in the regulation of immune cell function and the development of autoimmune diseases, such as multiple sclerosis. In conclusion, the COLQ gene is a complex gene with diverse functional roles in the immune system. Further research is needed to fully elucidate the mechanisms by which COLQ regulates cellular processes and to explore its potential implications in neurological and immunological disorders.

Genular Protein ID: 3699049979

Symbol: COLQ_HUMAN

Name: Acetylcholinesterase collagenic tail peptide

UniProtKB Accession Codes:

Q9Y215 B3KY09 Q6DK18 Q6YH18 Q6YH19 Q6YH20 Q6YH21 Q9NP18 Q9NP19 Q9NP20 Q9NP21 Q9NP22 Q9NP23 Q9NP24 Q9UP88

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 80 Ensembl 4 ExpressionAtlas 1 GO 15 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 3 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9758617

Title: Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).

PubMed ID: 9758617

DOI: 10.1086/302059

PubMed ID: 9689136

Title: Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.

PubMed ID: 9689136

DOI: 10.1073/pnas.95.16.9654

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11865139

Title: Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

PubMed ID: 11865139

DOI: 10.1212/wnl.58.4.603

PubMed ID: 14759258

Title: An unappreciated role for RNA surveillance.

PubMed ID: 14759258

DOI: 10.1186/gb-2004-5-2-r8

PubMed ID: 15526038

Title: The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix.

PubMed ID: 15526038

DOI: 10.1038/sj.emboj.7600425

PubMed ID: 10665486

Title: The spectrum of mutations causing end-plate acetylcholinesterase deficiency.

PubMed ID: 10665486

DOI: 10.1002/1531-8249(200002)47:2<162::aid-ana5>3.3.co;2-h

PubMed ID: 24938146

Title: Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.

PubMed ID: 24938146

DOI: 10.1016/j.pediatrneurol.2014.03.012

Sequence Information:

  • Length: 455
  • Mass: 47766
  • Checksum: A95D3E5D5ECDBE55
  • Sequence:
    • MVVLNPMTLG IYLQLFFLSI VSQPTFINSV LPISAALPSL DQKKRGGHKA CCLLTPPPPP 
LFPPPFFRGG RSPLLSPDMK NLMLELETSQ SPCMQGSLGS PGPPGPQGPP GLPGKTGPKG 
EKGELGRPGR KGRPGPPGVP GMPGPIGWPG PEGPRGEKGD LGMMGLPGSR GPMGSKGYPG 
SRGEKGSRGE KGDLGPKGEK GFPGFPGMLG QKGEMGPKGE PGIAGHRGPT GRPGKRGKQG 
QKGDSGVMGP PGKPGPSGQP GRPGPPGPPP AGQLIMGPKG ERGFPGPPGR CLCGPTMNVN 
NPSYGESVYG PSSPRVPVIF VVNNQEELER LNTQNAIAFR RDQRSLYFKD SLGWLPIQLT 
PFYPVDYTAD QHGTCGDGLL QPGEECDDGN SDVGDDCIRC HRAYCGDGHR HEGVEDCDGS 
DFGYLTCETY LPGSYGDLQC TQYCYIDSTP CRYFT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.