QuickView for MCOLN1;jsessionid=C50E84B82264B1B97ECC6852F1CA00EC (gene)

Gene Symbol:

MCOLN1 Homo sapiens

Full name:

mucolipin 1

Synonyms:

MG-2, ML1, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1, mucolipin-1, mucolipidin, mucolipidosis type IV protein, transient receptor potential channel mucolipin 1

Genomic Location:

Chr 19: 7493512-7504864

Description:

This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), an...

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This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

USF_Q6 ,  TCANNTGAY_SREBP1_01 ,  CACGTG_MYC_Q2 ,  USF_01 ,  USF_Q6_01 ,  CAGCTG_AP4_Q5

Cytogenetic Map:

19p13.2

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