AutismKB 2.0

Annotation Details for MLC1


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Basic Information Top
Gene Symbol:MLC1 ( KIAA0027,LVM,MLC,VL )
Gene Full Name: megalencephalic leukoencephalopathy with subcortical cysts 1
Band: 22q13.33
Quick LinksEntrez ID:23209; OMIM: 605908; Uniprot ID:MLC1_HUMAN; ENSEMBL ID: ENSG00000100427; HGNC ID: 17082
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm15892299
GO:0005764ISS-lysosome-
GO:0005768IDA-endosome18165104
GO:0005769ISS-early endosome-
GO:0005783IDA-endoplasmic reticulum15367490
GO:0005886IDA-plasma membrane15367490
GO:0005901ISS-caveola-
GO:0005911IEA-cell-cell junction-
GO:0016021IDA-integral component of membrane17628813
GO:0016323IDA-basolateral plasma membrane18165104
GO:0016324IEA-apical plasma membrane-
GO:0030136ISSNOTclathrin-coated vesicle-
GO:0031410IDA-cytoplasmic vesicle15892299
GO:0045121ISS-membrane raft-
GO:0048471IDA-perinuclear region of cytoplasm19931615
GO:0055037ISS-recycling endosome-
GO ID Evidence Qualifier GO_term References
GO:0005215NAS-transporter activity11254442
GO:0005515IPI-protein binding17628813
GO:0008565ISS-protein transporter activity-
GO:0032403IDA-protein complex binding17628813
GO ID Evidence Qualifier GO_term References
GO:0006810NAS-transport11254442
GO:0006811IEA-ion transport-
GO:0015031IEA-protein transport-
GO:0016192ISS-vesicle-mediated transport-
GO:0032388IDA-positive regulation of intracellular transport19931615
GO:0047484IMP-regulation of response to osmotic stress22328087
GO:0051259IDA-protein oligomerization15367490
GO:0071397ISS-cellular response to cholesterol-
GO:0072584ISS-caveolin-mediated endocytosis-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MLC1MYLK11072210092231 Biochemical Activity
MLC1MYLK11681610092231 Biochemical Activity
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
MLC1MLC1_1040C/A, MLC1_268G/A, MLC1_549C/T, MLC1_IVS11+16G/A, MLC1_IVS4+50C/T, MLC1_IVS6+22C/T, MLC1_IVS8+28G/A, MLC1_IVS9+59C/A, MLC1_IVS9+61T/C, MLC1_IVS9-110A/G, rs11568189, rs137928, rs137930, rs137931, rs137932, rs137936, rs2076127, rs2076137, rs2235349, rs2294376, rs2294377, rs2294394, rs3817810, rs41302601, rs6010165, rs6010260, rs713809, rs738490, ss16339163, ss16339168, ss16339182 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:2157910
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-050419-145'