QuickView for COLQ;jsessionid=6193DA861AE0896D96BCD5C3F36A0BE5 (gene)

Gene Symbol:

COLQ Homo sapiens

Full name:

collagen like tail subunit of asymmetric acetylcholinesterase

Synonyms:

CMS5, EAD, acetylcholinesterase collagenic tail peptide, AChE Q subunit, acetylcholinesterase-associated collagen, collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase, collagenic tail of endplate acetylcholinesterase, single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase

Genomic Location:

Chr 3: 15466644-15538262

Description:

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. Mutatio...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Bos taurus ,  Canis lupus familiaris ,  Pan troglodytes ,  Gallus gallus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  GATTGGY_NFY_Q6_01 ,  ACAACTT_MIR382 ,  RYTTCCTG_ETS2_B ,  TGGNNNNNNKCCAR_UNKNOWN ,  GATA_C ,  YATTNATC_UNKNOWN ,  CTTTGA_LEF1_Q2 ,  TGACCTY_ERR1_Q2 ,  GR_Q6 ,  NERF_Q2 ,  GCM_Q2 ,  HMEF2_Q6 ,  YCATTAA_UNKNOWN ,  RORA1_01 ,  STAT_01 ,  RNGTGGGC_UNKNOWN ,  GFI1_01 ,  AATGTGA_MIR23A_MIR23B ,  SREBP_Q3 ,  STAT5A_01 ,  MMEF2_Q6 ,  GTCAACC_MIR3805P ,  MEF2_Q6_01

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-132 ,  Predicted Gene Targets for miR-145 ,  Predicted Gene Targets for miR-208 ,  Predicted Gene Targets for miR-499

Cytogenetic Map:

3p25.1

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