Biology:MLC1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Membrane protein MLC1 (also called WKL1[1][2]) is a protein that in humans is encoded by the MLC1 gene.[3][4]
MLC1 is one of four major genes associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC).[5] The other three are GPRC5B, HEPACAM, and AQP4.[6]
Function
The function of this gene product is not known; however, homology to other proteins suggests that it may be an integral membrane transport protein.[1] Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder.[5]
The MLC1 protein contains six putative transmembrane domains (S1–S6) and a pore region (P) between S5 and S6. Furthermore, MLC1 has highest homology with the KCNA1 shaker-related voltage-gated potassium channel (Kv1.1). This analysis suggests that MLC1 may be a cation channel.[1][needs update]
References
- ↑ 1.0 1.1 1.2 "A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree". Mol. Psychiatry 6 (3): 302–6. May 2001. doi:10.1038/sj.mp.4000869. PMID 11326298.
- ↑ "A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia". Eur. J. Hum. Genet. 10 (8): 491–4. August 2002. doi:10.1038/sj.ejhg.5200837. PMID 12111645.
- ↑ "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1". DNA Res. 1 (1): 27–35. 1994. doi:10.1093/dnares/1.1.27. PMID 7584026.
- ↑ "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts". Am. J. Hum. Genet. 68 (4): 831–8. April 2001. doi:10.1086/319519. PMID 11254442.
- ↑ 5.0 5.1 "Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=23209.
- ↑ "Megalencephalic Leukoencephalopathy with Subcortical Cysts". University of Washington, Seattle. 2023-07-27. https://www.ncbi.nlm.nih.gov/books/NBK1535/.
Further reading
- "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99–106. 2003. doi:10.1093/dnares/9.3.99. PMID 12168954.
- "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement).". DNA Res. 1 (1): 47–56. 1995. doi:10.1093/dnares/1.1.47. PMID 7584028.
- "Death-associated protein kinase 2 is a new calcium/calmodulin-dependent protein kinase that signals apoptosis through its catalytic activity.". Oncogene 18 (23): 3471–80. 1999. doi:10.1038/sj.onc.1202701. PMID 10376525.
- "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. 1999. doi:10.1038/990031. PMID 10591208. Bibcode: 1999Natur.402..489D.
- "Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.". Hum. Genet. 110 (3): 279–83. 2002. doi:10.1007/s00439-002-0682-x. PMID 11935341.
- "Physical and functional interaction between myeloid cell leukemia 1 protein (MCL1) and Fortilin. The potential role of MCL1 as a fortilin chaperone.". J. Biol. Chem. 277 (40): 37430–8. 2002. doi:10.1074/jbc.M207413200. PMID 12149273.
- "Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.". Hum. Genet. 111 (2): 214–8. 2002. doi:10.1007/s00439-002-0770-y. PMID 12189496.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?". Hum. Mutat. 21 (1): 45–52. 2003. doi:10.1002/humu.10145. PMID 12497630.
- "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.". Nat. Biotechnol. 21 (5): 566–9. 2004. doi:10.1038/nbt810. PMID 12665801.
- "A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study.". Brain Dev. 25 (5): 362–6. 2003. doi:10.1016/S0387-7604(03)00006-8. PMID 12850517.
- "Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.". Neurology 61 (4): 534–7. 2004. doi:10.1212/01.wnl.0000076184.21183.ca. PMID 12939431.
- "A common mutation and a novel mutation in Japanese patients with van der Knaap disease.". J. Hum. Genet. 48 (12): 605–8. 2004. doi:10.1007/s10038-003-0085-4. PMID 14615938.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.". Neurology 62 (6): 878–82. 2004. doi:10.1212/01.wnl.0000115106.88813.5b. PMID 15037685.
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