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MLC1 modulator of VRAC current 1 [ Homo sapiens (human) ]

Gene ID: 23209, updated on 12-Oct-2019

Summary

Official Symbol
MLC1provided by HGNC
Official Full Name
modulator of VRAC current 1provided by HGNC
Primary source
HGNC:HGNC:17082
See related
Ensembl:ENSG00000100427 MIM:605908
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]
Expression
Biased expression in brain (RPKM 57.6) and bone marrow (RPKM 11.2) See more
Orthologs

Genomic context

See MLC1 in Genome Data Viewer
Location:
22q13.33
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 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 8 Neighboring gene Mov10 like RISC complex RNA helicase 1 Neighboring gene pannexin 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat increases permeability of human glomerular endothelial cells by activating Rho-A, pMLC, and c-Src pathways, which involves VEGF-A or FGF-2. PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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-containing complex binding IDA
Inferred from Direct Assay
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 complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of response to osmotic stress IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of response to osmotic stress IMP
Inferred from Mutant Phenotype
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
membrane protein MLC1
Names
megalencephalic leukoencephalopathy with subcortical cysts 1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_015166.3NP_055981.1  membrane protein MLC1

    See identical proteins and their annotated locations for 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
    UniProtKB/TrEMBL
    A0A024R4V4
    Related
    ENSP00000310375.5, ENST00000311597.9
  2. NM_139202.2NP_631941.1  membrane protein MLC1

    See identical proteins and their annotated locations for 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
    UniProtKB/TrEMBL
    A0A024R4V4
    Related
    ENSP00000379216.2, ENST00000395876.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011530678.2XP_011528980.1  membrane protein MLC1 isoform X2

  2. XM_017028671.1XP_016884160.1  membrane protein MLC1 isoform X1

    UniProtKB/Swiss-Prot
    Q15049
    UniProtKB/TrEMBL
    A0A024R4V4

RNA

  1. XR_001755180.2 RNA Sequence

  2. XR_001755181.2 RNA Sequence

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