MLC1

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MLC1
Identifiers
Aliases MLC1, LVM, MLC, VL, megalencephalic leukoencephalopathy with subcortical cysts 1
External IDs MGI: 2157910 HomoloGene: 15775 GeneCards: MLC1
RNA expression pattern
PBB GE MLC1 213395 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015166
NM_139202

NM_133241

RefSeq (protein)

NP_055981
NP_631941

NP_573504.1
NP_573504

Location (UCSC) Chr 22: 50.06 – 50.09 Mb Chr 15: 88.96 – 88.98 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Membrane protein MLC1 is a protein that in humans is encoded by the MLC1 gene.[3][4]

MLC1 (also called WKL1[5][6]) is the only human gene currently associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC).[7] Evidence exists for at least one other gene for MLC, but it has not been mapped or identified.

Function[edit]

The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transport protein.[5] Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder.[7]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S (1994). "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. doi:10.1093/dnares/1.1.27. PMID 7584026. 
  4. ^ Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS (April 2001). "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts". Am. J. Hum. Genet. 68 (4): 831–8. doi:10.1086/319519. PMC 1275636Freely accessible. PMID 11254442. 
  5. ^ a b c Meyer J, Huberth A, Ortega G, Syagailo YV, Jatzke S, Mössner R, Strom TM, Ulzheimer-Teuber I, Stöber G, Schmitt A, Lesch KP (May 2001). "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. doi:10.1038/sj.mp.4000869. PMID 11326298. 
  6. ^ McQuillin A, Kalsi G, Moorey H, Lamb G, Mayet S, Quested D, Baker P, Curtis D, Gurling HM (August 2002). "A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia". Eur. J. Hum. Genet. 10 (8): 491–4. doi:10.1038/sj.ejhg.5200837. PMID 12111645. 
  7. ^ a b "Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1". 

Further reading[edit]

  • Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954. 
  • Nomura N, Miyajima N, Sazuka T, et al. (1995). "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. doi:10.1093/dnares/1.1.47. PMID 7584028. 
  • Kawai T, Nomura F, Hoshino K, et al. (1999). "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. doi:10.1038/sj.onc.1202701. PMID 10376525. 
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature. 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208. 
  • Leegwater PA, Boor PK, Yuan BQ, et al. (2002). "Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.". Hum. Genet. 110 (3): 279–83. doi:10.1007/s00439-002-0682-x. PMID 11935341. 
  • Zhang D, Li F, Weidner D, et al. (2002). "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. doi:10.1074/jbc.M207413200. PMID 12149273. 
  • Ben-Zeev B, Levy-Nissenbaum E, Lahat H, et al. (2002). "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. doi:10.1007/s00439-002-0770-y. PMID 12189496. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241Freely accessible. PMID 12477932. 
  • Rubie C, Lichtner P, Gärtner J, et al. (2003). "Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?". Hum. Mutat. 21 (1): 45–52. doi:10.1002/humu.10145. PMID 12497630. 
  • Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. 
  • Saijo H, Nakayama H, Ezoe T, et al. (2003). "A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study.". Brain Dev. 25 (5): 362–6. doi:10.1016/S0387-7604(03)00006-8. PMID 12850517. 
  • Patrono C, Di Giacinto G, Eymard-Pierre E, et al. (2004). "Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.". Neurology. 61 (4): 534–7. doi:10.1212/01.wnl.0000076184.21183.ca. PMID 12939431. 
  • Tsujino S, Kanazawa N, Yoneyama H, et al. (2004). "A common mutation and a novel mutation in Japanese patients with van der Knaap disease.". J. Hum. Genet. 48 (12): 605–8. doi:10.1007/s10038-003-0085-4. PMID 14615938. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • Gorospe JR, Singhal BS, Kainu T, et al. (2004). "Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.". Neurology. 62 (6): 878–82. doi:10.1212/01.wnl.0000115106.88813.5b. PMID 15037685. 

External links[edit]