Product Name
MCOLN1, cDNA Clone
Full Product Name
MCOLN1 cDNA Clone
Product Gene Name
MCOLN1 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atgacagccc cggcgggtcc gcgcggctca gagaccgagc ggcttctgac ccccaacccc gggtatggga cccaggcggg gccttcaccg gcccctccga cacccccaga agaggaagac cttcgccgtc gtctcaaata ctttttcatg agtccctgcg acaagtttcg agccaagggc cgcaagccct gcaagctgat gctgcaagtg gtcaagatcc tggtggtcac ggtgcagctc atcctgtttg ggctcagtaa tcagctggct gtgacattcc gggaagagaa caccatcgcc ttccgacacc tcttcctgct gggctactcg gacggagcgg atgacacctt cgcagcctac acgcgggagc agctgtacca ggccatcttc catgctgtgg accagtacct ggcgttgcct gacgtgtcac tgggccggta tgcgtatgtc cgtggtgggg gtgacccttg gaccaatggc tcagggcttg ctctctgcca gcggtactac caccgaggcc acgtggaccc ggccaacgac acatttgaca ttgatccgat ggtggttact gactgcatcc aggtggatcc ccccgagcgg ccccctccgc cccccagcga cgatctcacc ctcttggaaa gcagctccag ttacaagaac ctcacgctca aattccacaa gctggtcaat gtcaccatcc acttccggct gaagaccatt aacctccaga gcctcatcaa taatgagatc ccggactgct ataccttcag cgtcctgatc acgtttgaca acaaagcaca cagtgggcgg atccccatca gcctggagac ccaggcccac atccaggagt gtaagcaccc cagtgtcttc cagcacggag acaacagctt ccggctcctg tttgacgtgg tggtcatcct cacctgctcc ctgtccttcc tcctctgcgc ccgctcactc cttcgaggct tcctgctgca gaacgagttt gtggggttca tgtggcggca gcggggacgg gtcatcagcc tgtgggagcg gctggaattt gtcaatggct ggtacatcct gctcgtcacc agcgatgtgc tcaccatctc gggcaccatc atgaagatcg gcatcgaggc caagaacttg gcgagctacg acgtctgcag catcctcctg ggcacctcga cgctgctggt gtgggtgggc gtgatccgct acctgacctt cttccacaac tacaatatcc tcatcgccac actgcgggtg gccctgccca gcgtcatgcg cttctgctgc tgcgtggctg tcatctacct gggctactgc ttctgtggct ggatcgtgct ggggccctat catgtgaagt tccgctcact ctccatggtg tctgagtgcc tgttctcgct catcaatggg gacgacatgt ttgtgacgtt cgccgccatg caggcgcagc agggccgcag cagcctggtg tggctcttct cccagctcta cctttactcc ttcatcagcc tcttcatcta catggtgctc agcctcttca tcgcgctcat caccggcgcc tacgacacca tcaagcatcc cggcggcgca ggcgcagagg agagcgagct gcaggcctac atcgcacagt gccaggacag ccccacctcc ggcaagttcc gccgcgggag cggctcggcc tgcagccttc tctgctgctg cggaagggac ccctcggagg agcattcgct gctggtgaat tga
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of MCOLN1 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for MCOLN1. It may not necessarily be applicable to this product.
NCBI Accession #
BC005149
[Other Products]
UniProt Secondary Accession #
Q7Z4F7; Q9H292; Q9H4B3; Q9H4B5; D6W647[Other Products]
UniProt Related Accession #
Q9GZU1[Other Products]
Molecular Weight
65,022 Da
NCBI Official Full Name
Homo sapiens mucolipin 1, mRNA
NCBI Official Synonym Full Names
mucolipin 1
NCBI Official Symbol
MCOLN1??[Similar Products]
NCBI Official Synonym Symbols
ML4; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1
??[Similar Products]
NCBI Protein Information
mucolipin-1
UniProt Protein Name
Mucolipin-1
UniProt Synonym Protein Names
MG-2; Mucolipidin
UniProt Gene Name
MCOLN1??[Similar Products]
UniProt Synonym Gene Names
ML4??[Similar Products]
UniProt Entry Name
MCLN1_HUMAN
NCBI Summary for MCOLN1
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. [provided by RefSeq, Oct 2009]
UniProt Comments for MCOLN1
mucolipin 1: Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis. Defects in MCOLN1 are the cause of mucolipidosis type IV (MLIV); also known as sialolipidosis. MLIV is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels. MLIV may be due to a defect in sorting and/or transport along the late endocytic pathway. MLIV is found at relatively high frequency among Ashkenazi Jews. Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily.
Protein type: Membrane protein, multi-pass; Channel, cation; Transporter, ion channel; Membrane protein, integral
Chromosomal Location of Human Ortholog: 19p13.2
Cellular Component: cytoplasm; endosome membrane; lysosomal membrane; plasma membrane; receptor complex
Molecular Function: calcium channel activity; iron ion transmembrane transporter activity
Biological Process: transferrin transport
Disease: Mucolipidosis Iv
Research Articles on MCOLN1
1. This review summarizes the current understanding of TRPML1 activation and regulation
Precautions
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Disclaimer
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