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MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 [ Homo sapiens (human) ]

Gene ID: 23209, updated on 26-Aug-2014
Official Symbol
MLC1provided by HGNC
Official Full Name
megalencephalic leukoencephalopathy with subcortical cysts 1provided by HGNC
Primary source
HGNC:17082
Locus tag
RP3-355C18.4
See related
Ensembl:ENSG00000100427; HPRD:05800; MIM:605908; Vega:OTTHUMG00000150236
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VL; LVM; MLC
Summary
The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
See MLC1 in Epigenomics, MapViewer
Location:
22q13.33
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 22 NC_000022.11 (50059391..50085929, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50497820..50524358, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene interleukin 17 receptor E-like Neighboring gene tubulin tyrosine ligase-like family, member 8 Neighboring gene Mov10 RISC complex RNA helicase like 1 Neighboring gene pannexin 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0027

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding IDA
Inferred from Direct Assay
more info
PubMed 
protein transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
caveolin-mediated endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to cholesterol ISS
Inferred from Sequence or Structural Similarity
more info
 
ion transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of intracellular transport IDA
Inferred from Direct Assay
more info
PubMed 
protein oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of response to osmotic stress IMP
Inferred from Mutant Phenotype
more info
 
transport NAS
Non-traceable Author Statement
more info
PubMed 
vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
caveola ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
NOT clathrin-coated vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
early endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosome ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
membrane protein MLC1
Names
membrane protein MLC1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009162.1 

    Range
    5001..31539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015166.3NP_055981.1  membrane protein MLC1

    See proteins identical to NP_055981.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL022327, BC010518, D25217, DA212966
    Consensus CDS
    CCDS14083.1
    UniProtKB/Swiss-Prot
    Q15049
    Related
    ENSP00000310375, OTTHUMP00000196707, ENST00000311597, OTTHUMT00000316979
  2. NM_139202.2NP_631941.1  membrane protein MLC1

    See proteins identical to NP_631941.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a different 5' noncoding exon compared to transcript variant 1, thus has a distinct 5' UTR. Both variants encode the same protein.
    Source sequence(s)
    AL022327, BC010518, BC028425, CB155740, D25217
    Consensus CDS
    CCDS14083.1
    UniProtKB/Swiss-Prot
    Q15049
    Related
    ENSP00000379216, OTTHUMP00000196708, ENST00000395876, OTTHUMT00000316980

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000022.11 

    Range
    50059391..50085929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_430476.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000154.1 

    Range
    33395631..33422559
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 

    Range
    50456560..50483100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)